LMCHK PART 1

Paediatrics 儿科学 Miscellaneous混杂的

2018.02.10 Dr. Kenneth

 Neurocutaneous Syndromes神经皮肤综合征
Scenario 1. A child has facial naevus面部痣 at birth on R side involving upper A Sturge Weber Syndrome脑颜面血管瘤综合征
face and eyelid上的脸,眼睑. At 8 months she develops L sided focal tonic B Neurofibromatosis多发性神经纤维瘤 2
clonic convulsions强直阵挛发作, resistant to anticonvulsants抗痉挛药. C Neurofibromatosis 多发性神经纤维瘤1
D Tuberous sclerosis结节性脑硬化
Following this she is found to develop L sided hemiparesis and developmental
E Von Hippel Lindau小脑及脊髓血管瘤症
regression轻偏瘫和发育回归 in 2nd year of life. CT Scan head was done and F Hypomelanosis of Ito伊藤色素减少症
there was evidence of intracranial calcification颅内钙化 showing railtrack 铁路
线路appearance.

Scenario 2

4-year-old Harry has numerous cafe-au-lait spots牛奶咖啡斑 on his body. On

slit lamp examination of his eyes, hamartomatous lesions consistent with Lisch
nodules 虹膜色素缺陷瘤are found. His father was diagnosed to have a similar
condition.
Scenario 3
14-year-old Jack has bilateral 8th nerve masses consistent with acoustic neuroma听神经瘤 as seen on MRI.
Scenario 4
8-month-old Charlotte has infantile spasms 婴儿点头痉挛with hypsarrythmic EEG. On careful examination she is found to
have ash leaf like白蜡树斑纹病 hypopigmented lesions色素减退型 on the skin. A CT scan of the head shows tubers in the
subependymal region室管膜下区域.
Which of the followings is not a component in a cardiopulmonary bypass 心肺转流术
(CPB) circuit?
A Arterial line filter动脉管路滤器
B Heat exchanger热交换器
C Oxygenator 氧合器
D Roller pump 滚子泵
E Ventilator呼吸机
 液体复苏
If there is no improvement following initial fluid
resuscitation 最初的液体复苏or there is progression of
shock and respiratory failure, a paediatric intensive care
unit should be involved and transfer arranged as the
child may need: 血容量减少
• Tacheal intubation and mechanical ventilation气管插
管和机械通气 了解重症监护病房

•Invasive monitoring of blood pressure有创血压监测

What is the recommended volume that
•Inotropic support强心剂 should be given as a fluid bolus to a child in
anaphylaxis过敏性反应?
• Correction of haematological, biochemical and A. 5ml/kg body weight
B. 10ml/kg body weight
metabolic derangements 血液学、生物化学和代谢性 C. 15ml/kg body weight
错乱的修正 D. 20ml/kg body weight
E. 25ml/kg body weight
• Support for renal failure对肾功能衰竭的支持.
Definitions of SIRS全身炎症反应综合症, sepsis败血症, severe sepsis重症脓毒症 and
septic shock感染性休克。SIRS has many causes, including infection, trauma, burns and
pancreatitis包括感染，创伤，烧伤和胰腺炎 and is defined by changes in
temperature>38.5, heart rate, respiratory rate and white cell count. ‘Septic shock’ is
inadequate organ perfusion 器官灌注不足in addition to the above changes. The
characteristic pattern of worsening cardiovascular心血管疾病的恶化, respiratory and
subsequently other organ system dysfunction is termed ‘severe sepsis’重症脓毒症when
due to infection.
 Sepsis败血症
A 21-day-old presents to your resus with a 24 hour history of fever 39c, lethargy 发热、嗜睡and reduced feeds. On examination he is hypotonic低渗的,
tachypnoeic and has a CRT 毛细血管再灌注时间of 4 seconds, his femoral pulses股动脉脉搏 are just palpable. You struggle to get access but eventually
manage to site an intraosseous needle 议放置髓内输液针and obtain a blood sugar which is high. His observations show his saturations in air to be 98%.

What is the most likely diagnosis?

A. Duct dependent lesion

B. Metabolic disorder The fever, alongside the clinical presentation, make sepsis the likely
diagnosis. A temperature >38 degrees in an infant <3months of age
C. Reye’s syndrome
warrants investigation.The elevated sugar in this case is a stress
D. Sepsis response to the illness and repeated cannulation attempts.
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E. Type 1 Diabetes Mellitus

核心温度小于36 c或大于38.5 c
不适宜的心动过速(或心动过速)
改变的精神状态(包括睡眠/易怒/
嗜睡/松软 减少的外周灌注/延长
的毛细血管再充盈/减少尿片或湿
尿布
 Insight
The mechanisms by which adrenaline acts
are likely to include:
• Alpha-adrenergic α1肾上腺素受体的
effects resulting in vasoconstriction血管
收缩, increasing blood pressure and
reducing plasma extravasation降低血浆
外渗
A child is at a birthday party when she suddenly
complains of an itchy tongue, starts scratching her
throat, sneezes, develops lip swelling, difficulty
swallowing and urticaria. On arrival of the
paramedics, what is the next BEST step?
A. Give intramuscular adrenaline
B. Give intramuscular antihistamine抗组胺剂
C. Give intravenous adrenaline静脉注射肾上腺素
D. Give oral Chlorphenamine氯苯那敏
E. Give subcutaneous adrenaline

• Beta-adrenergic effectsβ2肾上腺素能的
影响, causing broncho dilatation 支气管
扩张in the airways
• Mast cell stabilization肥大细胞稳定,
preventing further degranulation防止进 A. 4 days
一步的脱粒 and release of vasoactive B. 4 months
C. 4 weeks
mediators血管活性物质. 150 micrograms of adrenaline IM Anterolateral thigh前侧股部 D. 4 years
E. 14 years
 高热 三环抗忧郁药
抗抑郁药(三环抗抑郁 瞳孔放大
药), 环苯扎林 干燥的皮肤
卡马西平,抗组胺药(如 血管舒张 苯海拉明
苯海拉明),抗帕金森病
的抗精神病药物
治疗精神病的
抗痉挛 搅拌/幻觉
颠茄生物碱(如阿托品)
肠梗阻, 尿潴留 阿托品

心动过速
天然植物:蘑菇，
喇叭花
抗胆碱酯酶:毒扁
豆碱
杀虫剂(有机磷、 发汗,腹泻,降低BP
氨基甲酸盐) 排尿,瞳孔缩小,支气管痉挛,心动过缓
神经毒气 呕吐、流泪、流涎症、癫痫发作
Toxic doses of atropine typically cause all of the following effects EXCEPT?
A. Blurred vision
中毒劑量的阿托品會產生以下所有典型效應，除了
B. Bronchospasms A. 視力模糊
B. 支氣管痙攣
C. Hallucinations C. 幻覺
D. 體温升高
D. Hyperthermia E. 尿儲留
E. Urinary retention
昏迷指数
A 26-year-old man is assaulted, receiving direct blows to his head
直接打击他的头部. He is brought to his local Emergency
department where he is assessed by the emergency doctor. On
initial examination, he opens his eyes to speech说话他睁开眼
睛, reaches up to his head as you put pressure on his
supraorbital notch 眶上切迹and answers questions with
confused conversation困惑的谈话. What is his Glasgow coma
scale (GCS) score?
A 9.0
Accurate recording of the patient's GCS is
B 10.0 necessary so that any further change can be
accurately assessed and information can be
C 11.0 easily communicated to other health care
professionals.
D 12.0 In this case, the patient scores:
3 out of 4 as he opens his eyes to voice
E 13.0 5 out of 6 as he localises to pain
4 out of 5 as his conversation is confused
 婴儿瘁死综合症
Risk factors for sudden infant death syndrome婴儿瘁死综合症 (SIDS) include:3 options

A. Female sex女性

B. Twins双胞胎

C. Bottle-feeding人工喂奶

D. Previous history of a sibling dying 兄弟姐妹死亡from SIDS

E. Supine sleeping position仰卧的睡姿

SIDS is defined as death of an infant or young child that is unexpected by history and in whom a thorough
postmortem examination 尸体剖检fails to reveal an adequate explanation. The incidence varies worldwide with
marked seasonal variation (increases in winter增加在冬天 months) and is the leading cause of death in infants
aged over 1 week. Risk factors include male sex, multiple births, low-birthweight babies, associated respiratory
infection, bottlefeeding, social classes IV and V and the prone sleeping position (the supine position仰卧位
helps reduce the risk). A history of a sibling dying of SIDS increases the risk 10-fold, whereas maternal
substance abuse物质滥用 increases the risk 30-fold. Management involves support and reassuring the parents
that they are not to blame. The need for a postmortem examination should be explained and, if a twin, the
sibling should be investigated and observed. The GP should visit the same day and follow up regularly over the
next few weeks because, once the acute shock is over, depression may ensue.

Contraindication to lumbar puncture EXCEPT? 2 options
A. Papilloedema视乳头水肿
B. Epidural abscess硬脑膜外脓肿
C. Thrombocytosis血小板增多
D. Infection at local site of LP
E. INR 1.0
Insight
A lumbar puncture (LP) is contraindicated in the following
scenarios:
1.Patients with bleeding diathesis, e.g. severe coagulopathy严重
凝血病 (INR >1.4) and thrombocytopenia (platelet <50 x 109/L). If
coagulopathy or thrombocytopenia is not corrected prior to the
procedure, spinal hematomas脊髓血肿 resulting in spinal cord
compromise脊髓 may result.
2.Patients with increased intracranial pressure due to an
intracranial lesion causing mass effect or significant cerebral
oedema. In these circumstances, a LP may cause cerebral
herniation脑疝脱.
3.Patients with an epidural abscess
硬脑膜外脓肿.
 Insight
A 3-year-old presents with fever and irritability发 去大脑姿势
烧和易怒 you suspect meningitis脑膜炎 and start
to undertake a full septic screen 全败血性屏幕
prior to starting Ceftriaxone头孢三嗪.Which of
the following is a relative contraindication to
lumbar puncture禁忌腰椎穿刺?
A. Blanching rash转白皮疹
B. GCS 14格拉斯哥昏迷评分
C. Haemoglobin <100g/l
D. Posture of flexed arms and extended legs弯曲
的手臂和伸展的腿
E. Tachycardia with hypotension心动过速和低 去皮层强直
血压
 Insight
This is a decorticate posture and suggests raised intracranial pressure (RICP) Cardiorespiratory instability心和肺的不稳定
• Focal neurological signs局部性神经系统表征
颅内压增高, performing a LP in this situation may result in coning锥进.
• Signs of raised intracranial pressure,
A - A purpuric rash紫癜性皮疹 in an unwell child is a contraindication and e.g. coma, high BP, low heart rate or
instead requires antibiotics to be given immediately after collecting blood papilloedema
• Coagulopathy凝血病
cultures
• Thrombocytopenia血小板减少
B - A GCS of less than 13 is a contraindication as drowsiness 睡意may be a • Local infection 局部感染at the site of LP
sign of RICP颅内压增高. • If it causes undue delay in starting antibiotics

C - Thrombocytopenia 血小板减少or having a coagulation disorder凝固障碍

are contraindications, low haemoglobin level is not.

E - The reverse of this, hypertension with bradycardia高血压与心动过缓

forms part of Cushing's triad：氏三病征 with abnormal respirations and
suggests RICP.
 Insight
A 3-month-old unimmunised infant was brought by a mother with complaints of an inconsolable cry无法安慰地
and less activity than normal for 3 days. He was resuscitated and admitted . A CT brain showed acute
hydrocephalus 脑积水and he was planned for an urgent extra-ventricular drainage.

What is the MOST likely causative organism?

A. Escherichia coli大肠杆菌

B. Group B streptococcusB型链球菌

C. Listeria monocytogenes单核细胞增生利斯特菌

D. Mycobacterium tuberculosis结核分支杆菌

E. Neisseria meningitides脑膜炎奈瑟菌
 儿科高级生命支持
8 yo male with known history of heart
disease falls down in street. He has poor
capillary refill毛细血管再充盈不佳 and
ECG shows irregular wide QRS
complexes. The most appropriate action is
A. Amiodarone胺碘酮
B. Defibrillation and CPR去心脏纤颤和
心肺复苏
C. Give IV fluids and oxygen给静脉输液
和氧气
Dermatology皮肤医学
Erythema nodusum结节性红斑
 Clinical Importance临床价值
脓疱病

丹毒

蜂窝组织炎
结节性红斑

坏死性筋膜炎
16
Erythema multiforme (EM) is a self-limited hypersensitivity reaction
过敏性反应 usually triggered by infections, most commonly herpes
simplex virus单纯性疱疹病毒. The herpes simplex infection usually
precedes the skin rash by a few days. Less than 10% of the cases are
due to drugs such as penicillins, non-steroidal anti-inflammatory
agents, and anti-convulsants青霉素，非甾体类抗炎药，抗惊厥剂.

EM is characterized by red papules红疹 which evolve into target

lesions目标病灶, with the tendency to recur. There is usually no
prodromal illness前驱 prior to the onset of the skin lesions. The skin
lesion has a sharp margin and three concentric rings 三个同心圆– a
dusky centre昏暗, a middle zone of pale oedema 苍白水肿and an
outer zone of erythema红斑. Usuallu resolves in 10 days
Causes of erythema multiforme
• Herpes simplex infection单纯疱疹感染
• Mycoplasma pneumoniae肺炎支原体 infection
• Other infections其他传染病
• Drug reaction药物反应
• Idiopathic
 史蒂芬斯-强森症候群
Stevens–Johnson syndrome (SJS) and toxic epidermal
necrolysis中毒性表皮坏死松解症 (TEN) are rare,
severe adverse cutaneous reactions usually due to
dr ugs 皮 肤 型 药 物 不 良 反 应 a n d l e s s c o m m o n l y
associated with infections and vaccinations感染和疫
苗. Infections are generally associated with less severe
disease 不严重的疾病than when drugs are the cause.
The most common drugs that cause SJS and TEN are
antibiotics (sulphonamide, penicillins, cephalosporins
磺胺、青霉素、头孢菌素), antivirals (nevirapine奈
韦拉平), antifungals (imidazole), allopurinol, non-
steroidal anti-inflammatory agents (ibuprofen), and
anti-convulsants (phenytoin, sodium valproate,
carbamazepine, phenobarbitone) 抗真菌药(咪咪唑)，
异丙酚，非甾体类抗炎药(布洛芬)和抗惊厥剂(苯妥
英，钠丙戊酸钠、卡马西平、苯巴比妥)
 史蒂芬斯-强森症候群
Pathogenesis of SJS-TEN is only partially understood. It is viewed as a cytotoxic
immune reaction细胞毒性免疫反应 aimed at the destruction of keratinocytes角
化细胞的破坏 expressing foreign (drug-related) antigens. Epidermal injury表皮
损伤 is based on the induction of apoptosis细胞凋亡.
The onset is usually within the first month of the use of the offending drug.
Clinically, SJS is characterized by tender压痛 macules斑点, target lesions目标损
伤, blisters with mucosal involvement粘膜参与的水泡， with less than 10% skin
detachment.
SJS is characterized by the same skin lesions with epidermal detachment of
between 10% and 30%, whilst TEN has greater than 30% skin detachment. There
is usually a prodromal illness前驱症状 and the patient is often very ill with fever,
malaise, cough, headache and rhinorrhoea发热、不舒服、咳嗽、头痛和鼻塞.
The Nikolsky sign棘层松解征 (blistered skin on rubbing) is usually positive. Skin
biopsy皮肤活体组织检查 is usually required to diagnose the condition and
typically shows keratinocyte necrosis角化细胞坏死 in the epidermal layer 表皮层
with minimal inflammatory infltrate最小的炎性浸润 in the dermis真皮.
Reported mortality of SJS is around 5%, whereas it is 30–50% with TEN中毒性表
皮坏死松解症. Management usually requires admission to the intensive care or
burns unit,重症监护或烧伤 prompt withdrawal of the culprit drug罪魁祸首的药
物, and installation of supportive treatment支持性治疗. The use of systemic
corticosteroids, ciclosporin and intravenous immunoglobulin 全身皮质激素，环
孢霉素和静脉注射免疫蛋白remains controversial.
 Dermatitis herpetiformis疱疹样皮炎
Coeliac disease乳糜泄 is an enteropathy肠下垂 in which the gliadin 醇溶蛋
白 fraction of gluten and other related prolamines in wheat, barley, and rye小
麦、大麦、黑麦 provoke a damaging immunological response有害的免疫
反应 in the proximal small intestinal mucosa近端小肠粘膜(Absoprtion of
Iron , calcium, folic acid >then B12.

Serological tests血清学检测-ƒSerum anti-tTG antibody抗组织转谷氨酰

胺酶抗体, IgA, is 90-98% sensitive, 94-97% specific IgA defcient patients
have false-negative anti-tTG therefore, measure serum IgA concomitantly
(via serum quantitative protein electrophoresis定量蛋白质电泳)

EMA- (endomysial antibodies肌内膜抗体), Biopsy

Dermatitis herpetiformis疱疹样皮炎 is associated with coeliac disease乳糜

泄 and other autoimmune conditions自身免疫状况, presenting as an itchy,
blistering rash over elbows, knees, shoulders and buttocks在肘部、膝盖、
肩膀和臀部都有发痒、起泡的疹子.
 Insight
A 15-month-old girl is brought to the office 舌炎 口疮性口炎
by her mother due to failure to thrive发育停
骨质疏松症
滞 . For the past three months , the child has
had foul-smelling , non-bloody loose stools
7 to 8 times daily. On examination , she is 脂肪碳水化合物和蛋白质
手足抽搐
irritable and has a protruding belly and trace
pre-tibial edema . There are erythematous 大量粪
vesicles symmetrically distributed over the
extensor surfaces of her elbows and 瘀斑
knees(疱疹样皮炎). Preliminary laboratory 脂肪痢
investigations are significant for
hypochromic microcytic anemia低色小红细 水肿
胞性贫血 , and stool examination is
a) Anti-centromere antibodies硬皮病CREST
negative for ova or parasites . Which of the
b) Serum anti-tTG antibody抗组织转谷氨酰胺酶抗体/endomysial
following is most likely to be associated antibodies肌内膜抗体
with this condition?? c) Anti-mitochodial antibodies 原发性胆汁性肝硬化PBC
d) Anti-smith antibodies (SLE)
e) C-ANCA antibodies(韦氏肉芽肿病WG)
 Treatment
The following skin lesions are correctly paired with the associated conditions? 3 options
A. Erythema multiforme - mycoplasma infection多孔性红斑-支原体感染
B. Shagreen patch 释义鲨革斑- neurofibromatosis type多发性神经纤维瘤 1
C. Cafe-au-Lait spots - tuberous sclerosis结节状硬化
D. Erythema Nodosum结节性红斑 - Crohn's disease
E. Dermatitis herpetiformis 疱疹样皮炎 - ulcerative colitis 溃疡性结肠炎
 Pityriasis rosea玫瑰糠疹
This acute, benign self-limiting condition
is thought to be of viral origin病毒的起
源. It usually begins with a single round
or oval scaly macule单圆形或椭圆形大
鳞斑点, the herald patch前驱斑, 2–5 cm
in diameter, on the trunk, upper arm, neck,
or thigh躯干，上臂，脖子，或大腿.
After a few days, numerous smaller dull
pink macules粉红色的斑点 develop on
the trunk, upper arms, and thighs. The
rash tends to follow the line of the ribs
posteriorly, described as the ‘fir tree
pattern’冷杉树的模式. Sometimes the
lesions are itchy. No treatment is required
and the rash resolves within 4–6 weeks
 Insight
The following rashes often resolve without
treatment: Choose 3 options

A. Erythema Multiforme多形性红斑

B. Pityriasis Rosea玫瑰糠疹 体癣
C. Eczema Herpeticum疱疹性湿疹

D. Stevens Johnson Syndrome史蒂芬斯-强森症

游走性红斑
候群

E. Molluscum Contagiosum接触传染性软疣

Eczema herpeticum疱疹性湿疹 can be lethal especially if around the eyes and can had secondary bacterial
infection. Both Pityriasis rose玫瑰糠疹a and molluscum contagiosum接触传染性软疣 often resolve
spontaneously, without treatment.
Break time
Neurology儿科神经学
 Central motor disorders
The three central movement control centres are:

• Motor cortex, lying along the precentral gyrus中央

前回 (the homunculus何蒙库鲁兹 reflects the body
upside down, legs superiorly and face inferiorly, just
above the Sylvian fissure大脑侧裂, with large areas
to govern fine movements精细动作 of the tongue,
fingers and thumb). Information from here passes
down the corticospinal (pyramidal) tracts to link with
the basal ganglia基底神经节.

• Bas al gangli a 基 底 神 经 节 , d e e p g r e y m a t t e r
structures, store patterns of movement存储的运动模
式存储的运动模式 so that we need not put conscious
effort into every movement we make. 威尔逊的疾病

亨廷顿病,链球菌感染后肾小球舞蹈病(风湿热)
单肢轻瘫
• Cerebellum, controls posture, balance, coordination
hemi轻偏瘫
弗里德赖希共济失调
and speech 控制姿势，平衡，协调和说话
共济失调毛细血管扩张
四肢瘫痪,侧轻偏瘫
身体的同侧的轻偏瘫
 基底神经节障碍
• Basal ganglia disorders – will lead either to
difficulty initiating movement难题发起运动,
with fluctuating (largely increased) tone – a
‘dystonia肌张力障碍’ or a ‘dyskinesia运动
障碍’ where packets of movement
information are released to give jerky
movement急跳运动 (chorea舞蹈病) or
writhing movement扭动运动 (athetosis手足
徐动症).

Chorea is caused by damage to the basal ganglia, especially the caudate

nucleus尾状核.
 The cerebral cortex大脑皮层 initiates movement via
excitatory (glutamatergic谷氨酸能的) projections to
STN=丘脑底核. the striatum(Putamen and caudate壳核和尾状),
谷氨酸盐
which then activate two pathways: direct and
indirect
新纹状体
Direct: cortex >striatum >GPi/SNr >thalamus
D2 >motor cortex
黑质致密部 -Activation of this pathway removes the inhibitory
D1
effect of the GPi on the thalamus, letting
the thalamus activate the cortex and ultimately
GPe =外侧苍白 球 allowing movement
丘脑腹外侧核

单侧抽搐 Indirect: cortex > striatum > GPe > STN >GPi/SNr
丘脑底核 > thalamus > motor cortex

SNr=黑质网状部 i
-Activation of this pathway causes nhibition of the
thalamus and ultimately prevents movement
GPi = 内侧苍白球
 The effects of disease of the extrapyramidal system锥体外系统 on movement can be
regarded as negative (hypokinetic) and positive (hyperkinetic运动过度的).
Negative features Positive features
Bradykinesia运动徐缓: - a loss or slowness of Involuntary movements:
voluntary movement. – tremor震颤；
A major feature of Parkinson’s disease and produces: – chorea舞蹈病 (irregular, repetitive, jerking movements).
– reduced facial expression面具脸 (mask-like) – athetosis手足徐动症 (irregular, repetitive, writhing
– reduced blinking减少闪烁 movements).
– reduced adjustments of posture when seated. – dystonia肌张力障碍 (slow, sustained, abnormal
movement).
– ballismus 投掷症(explosive, violent movement).
Postural disturbance姿势不稳定: most commonly
– myoclonus肌阵挛 (shock-like jerks).
seen in Parkinson’s disease. Chorea and athetosis may merge into one another –
Flexion of limbs and trunk is associated with a failure choreoathetosis.
to make quick postural or ‘righting’ adjustments to
correct imbalance. The patient falls whilst turning or if
pushed.
 Wilson's disease威尔逊氏病
Wilson's disease (hepatolenticular degeneration肝豆状
核变性) is a rare inherited autosomal recessive
disorder of copper metabolism铜代谢.caused by a
defect in the ATP7B gene located on chromosome 13.
The onset of symptoms is usually between 10 - 25
years.
The basic genetic defect is a combination of reduced
synthesis of caeruloplasmin血浆铜蓝蛋白 (the
copper-binding protein) and defective excretion of
copper in the bile, which leads to an accumulation of
copper in the liver, brain, kidney, and cornea.
Wilson disease rarely presents in children under the
age of 3 years. In those presenting in childhood, a
hepatic presentation is more likely.
 Wilson's disease威尔逊氏病
They may present with almost any form
of liver disease, including acute hepatitis,
fulminant hepatitis, cirrhosis, and portal
hypertension.急性肝炎、严重急性肝炎、
肝 硬 化 和 门 静 脉 高 血 压
Neuropsychiatric features are more
common in those presenting from the
second decade onwards and include
deterioration in school performance, mood
and behaviour change, and学校的表现，
情绪和行为的改变 extrapyramidal signs
锥体外征候 such as incoordination,
tremor, and dysarthria不协调、震颤、构
音障碍.

Renal tubular dysfunction肾小管功能障碍, with vitamin D-resistant rickets, and haemolytic anaemia溶血性贫血 also occur.
Copper accumulation in the cornea (Kayser–Fleischer rings) (Fig. 21.6) is not seen before 7 years of age.
 Wilson's disease威尔逊氏病
A low serum caeruloplasmin 血清铜蓝蛋白and copper is characteristic, but not universal. Urinary copper
excretion尿铜排泄 is increased and this further increases after administering the chelating agent penicillamine青
霉胺. However, the diagnosis is confirmed by the fnding of elevated hepatic copper on liver biopsy肝活肝活组
织检查 or identifcation of the gene mutation.
A 16-year-old girl presents with a resting
tremor静止性震颤, in her left arm. She is
dysarthric构音障碍的 and ataxic运动失调
的. An ECG reveals first-degree heart block.
Blood tests reveal deranged LFTs. Given
the most likely diagnosis, which of the
following is most useful in the treatment?
A. Penicillamine青霉胺
B. Tetrathiomolybdate四硫钼酸盐
C. Steroids 类固醇
D. Venesection 静脉切放血术
E. Selenium硒
Treatment is with penicillamine or trientine青霉胺或曲恩汀. Both
promote urinary copper excretion尿铜排泄的, reducing hepatic
and central nervous system copper. Zinc 锌is given to reduce copper
absorption. Pyridoxine维生素B6 is given to prevent peripheral
neuropathy. Zinc is used in asymptomatic children无症状的孩子
identifed by screening families with an index case. Neurological
improvement may take up to 12 months of therapy. About 30% of
children with Wilson disease will die from hepatic complications if
untreated.
Liver transplantation肝脏移植 is considered for children with
acute liver failure or severe end-stage liver disease
 亨廷顿舞蹈病
Huntington disease (HD) is inherited as
an autosomal dominant常染色体显性
disease that gives rise to progressive,
selective (localized) neural cell death 神
经细胞死亡associated with choreic
movements舞蹈症样运动 and dementia
痴呆. It is associated with increases in
the length of a CAG triplet repeat三联
体重复序列疾病 present in a gene
called ‘huntingtin’ located on
chromosome 4p16.3.The condition
shows ‘anticipation’, becoming more
severe in each succeeding generation.
Pathology: global cerebral atrophy大脑萎缩, especially affecting the striatum
纹状体, leading to increased activity of the direct pathway, and decreased
activity of the indirect pathway
Signs and Symptoms • typical progression: insidious onset
with clumsiness笨拙, fidgetiness尾状核 , and irritability易怒,
progressing over 15 yr to frank dementia痴呆, psychosis 精
神病, and chorea 舞蹈病
• Dementia痴呆: progressive memory impairment记忆缺陷
and loss of intellectual capacity智力
• Chorea舞蹈病: begins as movement of eyebrows and
forehead, shrugging of shoulders眉毛和前额, and
parakinesia运动倒错 (pseudo-purposeful movement to
mask involuntary limb jerking)
• Progresses to dance-like or ballism抛掷症, and in late
stage is replaced by dystonia肌张力障碍 and rigidity
• Mood changes: irritability, depression抑郁症, anhedonia
快感缺乏, impulsivity, bouts of violence 易怒，抑郁，
快感缺失，冲动，暴力
Onset under 18 years is rare, but patients may then present
with parkinsonism rather than chorea (the ‘Westphal
variant’). There is always a family history, although this
may be concealed
A 42 year old Caucasian male is brought to the ER by police. He has been “losing his temper”
And has threatened his wife with a gun several times during last year. His wife says that,
recently. He seems to grimace鬼脸 involuntarily and that his extremities move without control.
The patient’s father died of a neurological disorder at 55 years old. This patient most likely has
neuron damage in which of the following areas?
A.Substantia nigra黑质
B.Dentate nucleus齿状核 of the cerebellum
C.Nuclues ambiguus疑核 of the medulla
D.Nuclues caudatus 尾状核
E. Subthalamic nucleus丘脑底核
The diagnosis is confirmed by genetic
testing遗传检测; presymptomatic testing
for other family members is available but
must be preceded by appropriate
counselling . Brain imaging may show
caudate atrophy 尾状萎缩but is not a
reliable test.
Treatment
• No disease altering treatment
• Psychiatric symptoms: antidepressants
and antipsychotics抗抑郁药和抗精神病
药物
• Chorea: neuroleptics神经松驰剂
(risperidone 利培酮 or sulpiride) and
tetrabenazine四苯喹嗪.
• dystonia: botulinum toxin肉毒毒素
 Insight
A 16-year-old girl presents with a resting tremor静止性震颤 of both arms. She is dysarthric
and ataxic构音障碍的和混乱的 with some grimacing of facial musculature扮鬼脸的面部肌
肉组织. Physical examination revealed spider angioma蛛状痣 and patients is Jaundiced.What
is the most likely diagnosis?
A. Alzheimer's disease早老性痴呆
B. Functional illness功能性疾病
C. Huntington’s chorea亨廷顿氏舞蹈病
D. Neuroacanthocytosis神经棘红细胞增多症
E. Wilson's disease威尔逊氏病
 Rheumatic fever急性关节风湿病
•Infammatory disease due to antibody
cross-reactivity following GABHS
infectionA群链球菌
• Affects ~1:10,000 children in developed
world; much more prevalent in developing
nations?; peak incidence at 5-15 yr of age
 Jones Criteria Chorea- anti-streptococcal antibodies that
cross-react with the basal ganglia基底神经节
Major criteria: • Carditis心脏炎: 50% (pancarditis affecting the pericardium,
myocardium and endocardium心内膜炎会影响心包，心肌和心内膜)
• Chorea西登哈姆舞蹈病-: 15% (a late manifestation - purposeless and
involuntary movements无目的和无意识的动作 and emotional lability情绪不稳,
lasts >6 months but has no longterm neurological sequelae神经系统后遗症)
• Polyarthritis:游走性关节疼痛 70% (migratory, involves large joints, transient
with no long-term sequelae没有长期的后遗症)
• Erythema marginatum边缘性红斑: 10% (pink rings on trunk and extensor
surfaces of limbs)
• Subcutaneous nodules皮下结节: 1% painless, small (0.5–2 cm), mobile lumps
beneath the skin overlying bony prominences骨性隆起 •Mainly a clinical diagnosis based on Jones
Minor criteria: Criteria (revised)
• Arthralgia关节痛 ■ Requires 2 major OR 1 major and 2 minor
• Fever PLUS evidence of preceding strep infection
• Prolonged PR interval on ECG (history of scarlet fever猩红热, GAS pharyngitis
PR间隔长时间 咽炎 culture, positive rapid Ag detection test,
• Raised erythrocyte sedimentation ASOTs)抗链球菌抗体滴度
rate 红血球沉降速度(ESR) and C-
reactive protein c反应蛋白(CRP)
 Rheumatic fever急性关节风湿病
• Complications

■ Acute: myocarditis心肌炎, conduction system aberrations传导系统

畸变 (sinus tachycardia, atrial fibrillation窦性心动过速、心房纤颤),
valvulitis (acute MR), pericarditis心瓣炎(急性)先生,心包炎

■ Chronic: valvular heart disease心脏瓣膜病 (mitral and/or aortic

insufciency/stenosis), infectious endocarditis感染性心内膜炎±
thromboembolic phenomenon血栓栓塞现象

•Treatment: penicillin or erythromycin青霉素、红霉素 for acute

course x 10 d, Prednisone强的松 if severe carditis严重的心脏炎

• Secondary prophylaxis with daily Penicillin or Erythromycin青霉

素、红霉素

A 10 day course of penicillin is given for eradication of streptococci in the first instance and
antibiotic prophylaxis 抗生素预防should be continued long term as a 3 - 4 weekly
intramuscular dose of benzylpenicillin. It should continue for 10 years in those with carditis
or until aged 21 years (whichever is longer).
 Rheumatic Fever
A 9-year-old boy presents with fever and joint pains. Initially the pain affected his right wrist, but now
affects his left wrist and right ankle游走性关节疼痛. He had tonsillitis扁桃腺炎 four weeks previously
treated with oral penicillin. On examination temperature is 38.7°C, respiratory rate 15/min, heart rate
95/min. His left wrist and right ankle are exquisitely tender触痛, such that even the bed clothes cause pain.
He also has 2/6 Ejection systolic murmur.His ESR is 95 mm/hr(<20) and CRP 129 mg/l(<10). ECG shows a
prolonged PR interval. What is the mechanish of this disease?
A.Activation of exotoxin-induced T cell receptors
B. Cross-reactivity of antibodies against bacterial and host antigens A. 外毒素诱导T细胞受体的激活
C Embolization of an infected thrombus B. 对细菌和宿主抗原的抗体的交叉反应
D. Injury from immune complex deposition C. 被感染的血栓栓塞
E. Release of an erythrogemc toxin D. 免疫复合物沉积损伤
E. 释放红霉素毒素
What is the most likely cause of this child's symptoms?
A Group A streptococcus
B Mycoplasma pneumoniae A群链球菌
C. Respiratory syncytial virus B肺炎支原体
D. Paramyxovirus c .呼吸道合胞体病毒
E. Epstein-Barr virus d .副粘病毒
e·巴尔病毒
 Insight
An Asian boy with a known history of rheumatic heart disease风湿性心脏病 presents with
low-grade fever for the past month. He received a course of antibiotics from his GP a week ago.
Which of the following investigations would be most useful in the diagnosis?
A. Blood culture 血培养
血清学检测
B. Serological testing 超声心动图
c反应蛋白
C. Echocardiogram 全血细胞计数
D. C-reactive protein
E. Full blood count
 Insight
Which of the following statements about rheumatic fever急性关节
风湿病 is most factually correct?
A. PR prolongation 延长部分on the ECG is one of the major
diagnostic criteria主要诊断标准
B. Prophylactic antibiotics预防性抗生素, should be stopped after
3 months
C. Rheumatic fever急性关节风湿病 is caused by an infection
with group A alfa-haemolytic Streptococcus species A-阿尔法
溶血性
D. The most common cardiac manifestation of rheumatic fever is
an isolated endocarditis孤立的心内膜炎 , occurring in over
50% of cases
E. The most commonly occurring major criterion for diagnosing
rheumatic fever is polyarthritis风湿热是多发性关节炎
Pancarditis心包肌内膜炎 affecting the
pericardium, myocardium and endocardium心
包、心肌、心内膜 is the most commonly
occurring cardiac manifestation and is seen in
approximately 50% of cases. As a
consequence of this 12.4% develop
dysrhythmias节律障碍, and 6% develop heart
block, tachycardia, cardiomegaly,
congestive cardiac failure and valve disease
心传导阻滞,心动过速,心脏肥大,
充血性心衰和瓣膜病. Its sequelae include
mitral regurgitation, mitral stenosis, aortic
regurgitation and tricuspid
regurgitation二尖瓣瓣流，二尖瓣狭窄，主动
脉瓣流和三尖瓣
返流.
Break time
 小脑功能失调
Cerebellar disorders – will lead to diffculty holding a
posture难题保持一个姿势; past-pointing (dysmetria
辨距不良); poor alternating movements
(dysdiadochokinesis轮替运动障碍). The gait is wide-
based and ataxic共济失调步态. Posterior-column
sensory pathway后列感觉通路 problems may give a
similar clinical picture (but with even worse ataxia
when the eyes are closed), but are much rarer in
childhood. Associated nystagmus and a characteristic
scanning dysarthria扫描构音障碍 may be seen
DASHING: dysdiadochokinesis轮替运动障碍
(impaired rapidly alternating movements,)
and dysmetria辨距不良 (past-pointing); ataxia
共济失调(limb/truncal); slurred speech
(dysarthria构音障碍); hypotonia张力减退;
intention tremor意向震颤; nystagmus眼球震
颤; gait abnormality步态异常.
 This is an autosomal recessive 常染色体隐
形遗传condition. It is due to a triplet repeat
三个一组重复 GAA repeat in the X25 gene on
chromosome 9 (frataxin). It presents with
worsening ataxia and dysarthria恶化共济失
调和构音障碍, distal wasting 远端肌肉萎缩in
the lower limbs with absent reflexes and pes
cavus弓形足. It is similar to Charcot-Marie-
Tooth disease腓骨肌萎缩症, but in
Friedreich ataxia there is impairment of joint
position and vibration sense关节位置和振动
觉 (posterior-columns affected脊髓后柱),
extensor plantars伸肌足底 (indicating
pyramidal involvement锥体径) and typically
optic atrophy视神经束. The cerebellar
component becomes more apparent with
age. Evolving kyphoscoliosis, diabetes
mellitus脊柱侧凸，糖尿病 and
cardiomyopathy心肌症 can cause
Friedreich's ataxia is unusual amongst trinucleotide repeat disorders in cardiorespiratory compromise and death at
not demonstrating the phenomenon of anticipation早发现象. The age 40–50 years
typical age of onset is 10-15 years old
An 18-year-old girl presented at the age of 3 years with progressive ataxia. She is now
wheelchair-bound. On examination, she is now dysarthric 构音障碍的, with bilateral optic
atrophy视神经萎缩. There is ataxia in both upper limbs. Reflexes in her lower limbs 下肢
are absent with bilateral extensor plantar response足底伸肌反应. She has absent vibration
and impaired joint position in both feet. Bilateral pes cavus is apparent. ECG shows
inverted T waves. Echocardiogram reveals left ventricular hypertrophy左心室肥大. What
is the most likely diagnosis?
A Charcot–Marie–Tooth disease
B Friedreich’s ataxia
C Huntington’s disease
D Ataxic telangiectasia共济失调毛细血管扩张
E Vitamin B12 deficiency
 Ataxic telangiectasia共济失调毛细血管扩张
Ataxic telangiectasia共济失调毛细血管扩张 is an autosomal recessive disorder caused by a defect in the ATM
gene which encodes for DNA repair enzymes dna修复酶类. There is mild delay in motor development in infancy
and oculomotor problems眼球运动的问题 with incoordination and delay in ocular pursuits and saccades 眼部的追
求和跳阅(moving eyes to a target); diffculty with balance and coordination becoming evident at school age. There
is subsequent deterioration, with a combination of a complex eye movement disorder including nystagmus, dystonia,
spasms, jerks and tremors, cerebellar ataxia and dysarthria眼球震颤、肌张力障碍、痉挛、抽搐、震颤、小脑共
济失调和肌张力障碍。. Many children require a wheelchair for mobility in early adolescence. Telangiectasia
develop in the conjunctiva and may occur in theneck and shoulders from about 4 years of age.
These children:
•Have an increased susceptibility to infection, and deficiencies of IgA
and IgE
• Develop malignant disorders, such as lymphomas and acute
leukemias淋巴瘤、急性白血病
•Develop progressive pulmonary disease with bronchiectasis肺病与
支气管扩张
•Have a raised serum alpha-fetoprotein甲胎蛋白
•Have sensitivity to ionizing radiation.
Most will die of malignancy or chronic lung disease in
their twenties.
 Each one of the following is associated
with ataxic telangiectasia共济失调毛细血
管扩张, except:
A. Telangiectasia毛细管扩张
B. Cerebellar ataxia 小脑性共济失调
C. Autosomal dominant inheritance常染
色体显性遗传
脊柱后侧凸
D. Recurrent chest infections反复胸部
视神经萎缩 感染
E. Increased risk of malignancy
肥厚性梗阻型心肌病
 Insight
Which one of the following conditions is inherited in an autosomal recessive常染色体隐形遗
传 pattern and is associated with tri-nucleotide repeat expansion
A. Fragile X syndrome脆性X综合征
B. Friedriech's ataxia弗里德希氏共济失调
C. Huntington's disease亨廷顿氏舞蹈病
D. Myotonic dystrophy肌强直性营养不良
E. Spinocerebellar ataxia脊髓小脑性共济失调
Development Milestone
发展的里程碑
Developmental milestones发展里程碑
Estimated developmental age发展年龄
 Estimated developmental age发展年龄
A 2 years B 3 years C 4 years D 9 months E 8 months F 7 months
Scenario 1
Rides tricycle, dresses and undresses self when helped with buttons. Gives full name and knows own
sex. Sings some nursery rhymes. Identifies few colours, copies circle and plays with other children in a
group. 在按钮的帮助下，骑着三轮车、连衣裙和脱衣。说出自己的全名，知道自己的性别。唱一些儿歌。
识别很少的颜色，复制圆圈，和其他孩子一起玩耍
Scenario 2
Pulls self to standing position and stands steadily holding on to furniture. Sits on his own and steadily
without risk of falling. Has developed pincer grasp钳状抓握. Can release objects deliberately and let
them go. Plays peek-a-boo同位穿孔.
Scenario 3
Rolls from supine to prone and vice versa. Sits with hands forward for support. Transfers objects from
one hand to other将对象从一只手转移到另一只手上. Takes all objects to mouth. Respond to name.
Says "da" "ba " (monosyllable babble).
Developmental Screening
A child aged 18 months is referred to you for
developmental screening发育筛查. Which of the
following is the most important developmental
warning signal警报信号?

A. Inability to run 10 meters

B. Bottom shuffling

C. Inability to walk downstairs alone

D. Inability to walk upstairs alone

E. Inability to walk without support

中央前回 运动皮质 下运动神经元

神经根 前角细胞,脊髓
内囊

神经丛

末梢神经
锥体束,脑干

肌肉神经接点
锥体交叉,髓质
肌肉 弱点
萎缩
锥体交叉,髓质 自发性收缩
反射
巴宾斯基 肌张力
皮质脊髓侧束, 脊髓 痉挛性不全麻痹 折刀样痉挛
驰缓性麻痹
 Cerebral palsy大脑性麻痹
Cerebral palsy (CP) has been used as an umbrella term涵盖性术语 for
varying disorders. Loosely translated, CP means "brain paralysis脑瘫."
Generally, it refers to motor or postural abnormalities运动或姿势异常
that are noted during early development早期发育. These anomalies are
thought to be associated with prenatal, 产前的 perinatal, or postnatal
围产期或产后events of varying etiologies不同的病因.The motor
disorders of CP are often accompanied by disturbances of cognition,
communication, vision, perception, sensation, behaviour, seizure
disorder and secondary musculoskeletal problems认知，沟通，视觉，
知觉，感觉，行为，癫痫和继发性肌肉骨骼问题. Although the
causative lesion is non-progressive非进行性 and damage to the brain
is static停滞性脑病, clinical manifestations emerge over time,
reflecting the balance between normal and abnormal cerebral
maturation正常和异常大脑成熟之间的平衡. Motor dysfunction运动
功能障碍 is usually evident early, often from birth. If the brain injury
occurs after the age of 2 years, it is diagnosed as acquired brain injury.
 Cerebral palsy大脑性麻痹 Causes
About 80% of CP is antenatal 产前的in origin due to cerebrovascular haemorrhage or ischaemia脑血管出血或
局部贫血, cortical migration disorders or structural maldevelopment皮质迁移障碍或结构性发育不良 of the
brain during gestation. Some of these problems are linked to gene deletions基因缺失. Other antenatal causes
include congenital infection先天性感染(巨细胞病毒,弓形虫病CMV,toxoplasmosis).
Only about 10% of cases are thought to be due to hypoxic-ischaemic injury缺氧缺血性损伤 before or during
delivery and this proportion has remained relatively constant over the last decade. About 10% are postnatal出
生后的 in origin.
Preterm infants are especially vulnerable to brain damage from periventricular leukomalacia脑室周围白质软化
secondary to ischaemia and/or severe intraventricular haemorrhage and venous infarction血和/或严重的室内出
血和静脉梗塞. The improved survival of extremely preterm infants has been accompanied by an increase in
survivors with CP, although the number of such children is relatively small.
Postnatal causes are meningitis/encephalitis/ encephalopathy, head trauma from accidental or non-accidental
injury, symptomatic hypoglycaemia, hydrocephalus and hyperbilirubinemia.脑脊膜/脑炎/脑病，意外或非意
外伤害的头部外伤，有症状的低糖血症，脑积水和高胆血素血症
MRI brain scans may assist in identifying the cause of the CP, in directing further investigations and in
supporting explanations to the parents, but is not required to make the diagnosis.
 Cerebral palsy大脑性麻痹
Many children who develop CP will have
been identifed as being at risk in the neonatal
period新生儿期. Early features of CP are:
• Abnormal limb and/or trunk posture and
tone 异常肢体和/或躯干姿势和肌张力in
infancy with delayed motor milestones动作发
展指标 (Fig. 4.3); this may be accompanied
by slowing of head growth
• Feeding diffculties, with oromotor口部运 动
incoordination, slow feeding缓 慢 进 食 ,
gagging and vomiting
• Abnormal gait 步态异常once walking is
achieved
•Asymmetric hand function 不对称手功能
before 12 months of age
Persistance of primitive reflex原始反射

Cerebral palsy 大脑性麻痹

(hemiplegia or quadriplegia偏瘫或四
肢瘫痪) is the commonest cause of
developmental problems发展问题
 Common patterns of cerebral palsy
基底神经节

大脑中动脉

痉挛性大脑性麻痹

两大脑半球梗死 大范围的损坏,
脑发育不全 的室周的区域
开发大脑,包括
皮质

不随意运动型 基底神经节；
弗里德赖希共济失调
共济失调毛细血管扩张
共济失调性脑瘫
 Spastic cerebral palsy痉挛性大脑性麻痹
痉挛性大脑性麻痹In this type, there is damage to the upper motor neurone上位运动神经元 (pyramidal or
corticospinal tract皮层脊髓束) pathway. Limb tone is persistently increased (spasticity强直状态) with
associated brisk轻快的 deep tendon reflexes and extensor plantar responses.深部腱反射和伸肌反应.

Unilateral (hemiplegia)单边(偏瘫 – Unilateral involvement of the

arm and leg. The arm is usually affected more than the leg, with
the face spared. Affected children often present at 4–12 months of
age with fisting 拳打of the affected hand, a flexed arm, a pronated
forearm, asymmetric reaching, hand function弯曲的手臂，前臂，
不对称的手，手的功能 or toe pointing when lifting the child.
Subsequently, a tiptoe walk (toe–heel gait)用脚尖走路 on the
affected side may become evident. Affected limbs may initially be
flaccid and hypotonic, but increased tone soon emerges as the
predominant sign. The medical history may be normal, with an
unremarkable birth history and no evidence of hypoxic-ischaemic
encephalopathy giving rise to the possibility of a prenatal cause,
which is often silent. In some children, the condition is caused by
neonatal stroke. More severe vascular insults may cause a
hemianopia一侧视力缺失 (loss of half of visual feld) of the same
side as the affected limbs
 Basic Review 大脑动脉
Middle cerebral artery大脑中动脉: Supplies the lateral
part of each hemisphere.

• Occlusion may cause contralateral hemiparesis对

侧轻偏瘫,hemisensory loss(esp.face & arm), 内囊

• Contralateral homonymous hemianopia对侧 同向

偏盲due to involvement of the optic radiation视放 大脑前动脉
射线,

• Cognitive change认知改变 including dysphasia

with dominant hemisphere lesions, and 大脑中动脉
• Visuo-spatial disturbance视觉空间扰动 (eg cannot
dress; gets lost) with non-dominant lesions
 Middle cerebral artery
Middle cerebral artery大脑中动脉: Supplies the
lateral part of each hemisphere.
• Occlusion may cause contralateral hemiparesis对
侧轻偏瘫,hemisensory loss(esp.face & arm),
• Contralateral homonymous hemianopia对侧 同
向偏盲due to involvement of the optic radiation,
• Cognitive change认知改变 including dysphasia
视放射线
with dominant hemisphere lesions显性脑半球病
变, and
• Visuo-spatial disturbance视觉空间扰动 (eg
cannot dress; gets lost) with non-dominant
lesions
 Insight
You review a 70-year-old woman four days after she
was admitted with a suspected stroke. Unfortunately
she has been left with right sided sensory loss affecting
her arms more than the legs and a right sided
homonymous hemianopia同向偏盲. Functionally she
has difficulty dressing her self. Examination of her
cranial nerves is unremarkable. What area is the stroke
most likely to have affected?

A. Middle cerebral artery大脑中动脉

B. Lacunar动脉腔隙

C. Anterior cerebral artery大脑前动脉

D. Posterior cerebral artery大脑后动脉

E. Posterior inferior cerebellar artery后下小脑动脉

 痉挛形双边脑性麻痹
Bilateral (diplegia) – all four limbs, but the legs are affected to a much greater degree than the
arms, so that hand function may appear to be relatively normal. Motor diffculties in the arms are
most apparent with functional use of the hands. Walking is abnormal. Diplegia is one of the
patterns associated with preterm birth 早产 due to periventricular brain damage. The MRI brain
scan may show periventricular leukomalacia脑室周围白质软化.
 Spastic cerebral palsy
Bilateral (quadriplegia) – all four limbs are affected, often severely. The
trunk is involved with a tendency to opisthotonus 角弓反张(extensor
posturing), poor head control and low central tone (Fig. 4.4).
This more severe form of CP is often associated with seizures,
microcephaly and moderate or severe intellectual impairment癫痫发作，
小头畸形，中度或重度智力障碍. There may have been a history of
perinatal hypoxic-ischaemic围产期缺氧缺血性. Extensive damage to the
periventricular areas of the developing brain, including cortex大范围的损
坏, 的室周的区域 开发大脑,包括 皮质

髋脱位脊柱侧凸
 Insight
With regard to spastic hemiplegia痉挛
性偏瘫: 3 options

A. The legs are more severely affected

than the arms In spastic diplegia, the legs are more
severely affected than the arms; in
B. Diplegia is common in preterm.
spastic hemiplegia there is
C. Almost all affected children walk asymmetrical tone and reduced
movements不对称色调和减少运动
by school age on the affected side (arm relatively
weaker than leg) with the limbs on
D. One leg may be shorter than the
the affected side being smaller,
other一条腿可能比另一条腿短 colder and spastic, although almost
all children are usually walking by
E. It characteristically results in
school age.
learning difficulties学习困难

Spastic hemiplegia痉挛性偏瘫 may result from an infarct of the cortex or

internal capsule and only about 30% have an IQ < 70.
 Dyskinetic cerebral palsy运动障碍性脑瘫
Dyskinesia refers to movements that are involuntary, uncontrolled, occasionally stereotyped and often more evident with active
movement or stress.不自觉的，不受控制的，偶尔的刻板印象通常更明显的是积极的运动或压力 Muscle tone is variable
and primitive motor reflex patterns predominate. May be described as:

•Chorea 舞蹈病 – irregular, sudden and brief non-repetitive movements

• Athetosis手足徐动症 – slow writhing movements occurring more distally such as fanning of the fingers

• Dystonia肌张力障碍 – simultaneous contraction of agonist and antagonist muscles of the trunk and proximal muscles often
giving a twisting appearance
 Dyskinetic cerebral palsy运动障碍性脑瘫
Intellect may be relatively unimpaired. Affected
children often present with floppiness, poor
trunk control and delayed motor development in
infancy在婴儿时期，身体不发达，身体状况
不佳，发育迟缓. Abnormal movements may
only appear towards the end of the first year of
life. The signs are due to damage or dysfunction
in the basal ganglia 基底神经节or their
associated pathways (extra-pyramidal). In the
past, the most common cause was
hyperbilirubinemia高胆红素血 (kernicterus核
黄疽) due to rhesus disease of the newborn but
it is now hypoxic-ischaemic encephalopathy缺
氧缺血性脑病 at term. The MRI brain scan
will often show bilateral changes predominantly
in the basal ganglia
 混乱的(低渗的)脑瘫
Ataxic (hypotonic) cerebral palsy.
Most are genetically determined. When
due to acquired brain injury (cerebellum
or its connections), the signs occur on
the same side as the lesion but are
usually relatively symmetrical. There is
early trunk and limb hypotonia, poor
balance and delayed motor development.
Incoordinate movements, intention
tremor and an ataxic gait may be evident
later.有早期的躯干和四肢，不平衡，
和延迟的运动发展。不协调运动，意
图震颤和ataxic步态可能在后面很明显。
Clinical presentation
 Insight
Cerebral palsy: 2 options
A. Is a contraindication to the pertussis vaccine百日咳菌苗
B. May be secondary to hypoglycaemia in the perinatal period围产期
C. Features include the lack of primitive reflexes缺乏原始反射
D. Middle cerebral artery is commonly involved in Hemiplgic CP
E. Feeding difficulties arise from hypotonia

No vaccine is contraindicated in cerebral palsy and full immunisation

should be encouraged. Feeding difficulties occur due to hypertonia and
problems arise because of the persistence of primitive reflexes (e.g. Moro,
grasp and the asymmetric tonic neonatal reflexes拥抱, 掌握和不对称的补药新生儿反射).
 Management
There are recently developed novel treatments for treating hypertonia in CP such as botulinum toxin injections to
muscles(short term effect), selective dorsal rhizotomy脊神经后根切断术 (a proportion of the nerve roots in the
spinal cord are selectively cut to reduce spasticity), intrathecal baclofen囊内的because poor penetratin to blood
brain barrier (a skeletal muscle relaxant) and deep brain stimulation of the basal ganglia.

Diazepam 安定: Gamma-aminobutyric acid氨基丁酸 (GABA) is the principal inhibitory neurotransmitter

regulating neuronal excitability in the nervous system.Diazepam is a GABA agonist. Due to its central location of
action, it relieves spasticity and muscle spasms, cause sedation.

Tizanidine: Tizanidine盐酸替扎尼定 is an alpha-2 adrenergic receptor agonist and acts at the spinal level to help
relieve spasms. It is particularly useful in children who are severely disabled by cerebral palsy and in those with
night-time spasms, as it commonly has a sedative effect.

Dantrolene: Dantrolene 硝苯呋海因works on spasticity and spasms by affecting the calcium uptake into skeletal
muscles and decreasing the free intracellular calcium concentration. Sedation is less of a problem with dantrolene
than with the other drugs mentioned, but it should be used cautiously as it can cause hepatic dysfunction and blood
dyscrasias肝功能障碍和血液失调.
 Insight
Management of cerebral palsy大脑性麻痹.
Regarding the management of cerebral palsy, which of
the following statements are true (T) and which are
false (F)?
A. Baclofen passes freely across the blood–brain barrier
B.Botulinum toxin 肉毒毒素has permanent effects
C.Dantrolene 硝苯呋海因commonly causes sedation
D. Diazepam地西泮 mainly acts upon GABA receptors
within the muscle
E. Tizanidine 盐酸替扎尼定acts centrally, mainly
within the motor cortex, on alpha-2 receptors
 Insight
Children with cerebral palsy:
A. S h o u l d a l l h a v e a n E E G o n
diagnosis
B. Ataxic type运动失调型 is more
common than spastic
C. I s n e a r l y a l w a y s c a u s e d b y
perinatal asphyxia周产期窒息
D. K e r n i c t e r u s 核 黄 疽 c a n c a u s e
dyskinetic CP.
E. B o t u l i n u m t o x i n 肉 毒 毒 素 i s
contraindicated
 Insight
An 18-month-old child attends the child Particular care should be taken when there is a ‘family
history’ of cerebral palsy to check that there is not an
development centre for a thorough assessment underlying inheritable cause. One must also ensure that
with a suspected diagnosis of cerebral palsy大脑 a child who presents with ‘ataxic cerebral palsy’ does
性麻痹. Which of the following clinical features not have a treatable or definable underlying cause.
would be most likely to suggest an alternative
diagnosis?
Select ONE answer only.
A. Dystonia肌张力障碍
B. Family history of cerebral palsy脑瘫家族病史
C.Hyperkinesia运动机能亢进 脊髓肿瘤
•Channelopathies离子通道病
D. Prematurity早产儿 •桑迪弗氏综合征
•MECP2重复
E.Spasticity 痉挛状态 先天性多巴胺反应障碍
•遗传性痉挛性截瘫
一些代谢性疾病(谷氨脂酸，戊二酸 1)轴向血管扩张
A 2½-year-old boy was born at 26 weeks gestation with a birth weight of 900 gram. He
had a grade III intraventricular haemorrhage and developed hydrocephalus requiring a
ventriculo-peritoneal shunt at 3 months. He was discharged 5 months later. The mother
noticed that he could not lift up his head, roll over or even sit. He could not reach out for
toys. Physical examination showed that muscle tone was increased in all limbs. He did
not have any visual fixation. Which of the following is the most likely diagnosis?
A. Ataxic cerebral diplegia 一名 2.5 歲大男童，滿 26 周出生，體重 900 克。男童 3 個月大時有第
3 級腦出血，並出現腦積水，須進行腦膜分流。治療 5 個月後出院，
B. Global developmental delay 其母親發現兒子不能抬頭、轉身或甚至坐起來。他不能走開拿玩具。
身體檢查顯示其四肢旳肌張力有增加，眼神呆滯.下列哪項診斷 最為恰
C. Athetoid cerebral palsy 當？
A. 大腦性失調雙癱
D. Spastic diplegia B. 整體發展遲緩
C. 手足徐動型腦性癱瘓
D. 痙攣性雙癱
E Spastic tetraplegia E. 痙攣性四肢癱
Break time
 Vasculitis血管炎
Vasculitides血管炎 are characterised by inflammatory destruction
of blood vessels血管炎性破坏, occurring in veins静脉 (phlebitis静
脉炎) or arteries (arteritis动脉炎).

Some conditions have vasulitis 血管炎as their main

feature and include:
• HSP过敏性紫癜 ,• Kawasaki Disease川崎病 ,•
Polyarteritis nodosa结节性多动脉炎 , • Wegener's
granulomatosis韦格纳氏肉芽肿病, • Takayasu's
arteritis大动脉炎, • Giant cell arteritis 巨细胞动脉炎
(temporal arteritis 颞动脉炎)
 Kawasaki disease 川崎病
Kawasaki disease is a vasculitis of small to medium vessels of unknown aetiology and is a leading cause of acquired heart disease
in children. It most commonly affects children 6 months to 4 years of age and has clinical features of fever for more than 5 days,
associated with at least four of the following clinical features:

• Polymorphous exanthema多功能的疹

• Cervical lymphadenopathy颈淋巴结肿大• Conjunctivitis( Bilateral non-suppurative conjunctivitis非化脓性结膜炎)

• Mucositis (Inflammation of the tongue, lips and oral mucosa口腔黏膜)

• Oedema of hands and feet with subsequent desquamation

Coronary arteritis can occur and result in aneurysm formation

Illness not explained by a known disease process(Young infants).

Atypical Kawasaki非典型川崎 disease implies that not all the diagnostic criteria诊断标准 are met but clinically the child is felt
to have Kawasaki disease, and later coronary artery dilatation or other pathognomonic criteria develop. Atypical Kawasaki disease
is more common in infants than in older children. There are no diagnostic tests for Kawasaki disease and, although not part of the
clinical criteria, the following findings may aid diagnosis: • Perianal erythema , • Children are very miserable ,• Induration at
site of BCG ,• Gallbladder hydrops
 Kawasaki Disease川崎病
结膜炎

粘膜的变化
颈部淋巴结病
皮疹

四肢

The diagnostic features of Kawasaki disease include fever for more than 5 days plus 4/5 of:
• Cervical lymphadenopathy颈部淋巴结病
• Polymorphic generalised rash多态的全面皮疹
• Mucositis or oral changes粘膜炎或口头变更
• Conjunctivitis 结膜炎(non-purulent)
• Finger tip 指尖or extremity changes肢体的变化 (red early, peeling later)
 Insight
A 4 - y e a r- o l d g i r l p r e s e n t s t o t h e e m e rg e n c y
department急诊室 with a 7-day history of fever. She
also complains of abdominal pain腹痛. On
examination, she has a widespread rash广泛皮疹, red
conjunctiva红色结膜 and cervical lymphadenopathy
颈部淋巴结病. Bearing in mind the most likely
underlying cause of her symptoms, which one of her
features does not fulfil the diagnostic criteria?
A. Abdominal pain腹痛
B. Cervical lymphadenopathy 颈部淋巴结病
C. Conjunctivitis 结膜炎
D. Fever of at least 5 days duration
E. Polymorphous rash多功能的皮疹
 Insight
A 6 year old boy has Prolonged fever for 7 days, which is not responding to antibiotics不应对
抗生素. His mother commented he has been irritable and has coryzal 鼻伤风symptoms On
examination he ash bilateral conjunctivitis双边结膜炎, crackled and fissured lips爆裂和裂缝
性的嘴唇 and a maculopapular rash斑状丘疹 over die trunk and the limbs, fingers are swollen.
Cervical lymph nodes颈部淋巴结are enlarged Which of the following is the most likely
diagnosis?
A Herpes simplex virus type stomatitis单纯疱疹病毒型口炎
B Adenovirus infection腺病毒感染
C Hand , foot and mouth disease due to enterovirus由于肠病毒引起的手足口病
D Kawasaki disease川崎病
E Streptococci infection链球菌感染
Endocrinology
Basic Review
肾上腺皮质
球状带

束状带

肾上腺髓质 网状带

高醛甾酮症
醛固酮
血管紧张素II 盐皮质激素
皮质醇
糖皮质激素 皮质醇增多症
脱氢表雄酮
雄性激素
CAH先天性肾上腺皮质
 先天性肾上腺增生症
Congenital adrenal hyperplasia (CAH) is a consequence of autosomal recessively常染色体隐性-
inherited mutations of genes encoding enzymes involved in steroid hormone biosynthesis. It is the most
common disorder of sexual differentiation, accounting for 85% of all cases of neonates with ambiguous
genitalia外阴性别不明. 95% of cases are due to mutations (of the CYP21B gene on chromosome 6)
encoding 21-hydroxylase-羟化酶. Reduced enzyme function may result in impaired glucocorticoid 糖
皮质激素and mineralocorticoid盐皮质激素 synthesis. This results in virilization due to failure of
feedback inhibition of ACTH secretion from reduced cortisol levels and preservation保留 of the
androgen synthetic pathway雄激素的合成途径 and salt loss盐的损失, which may be severe.
 Clinical Features临床表现
Virilisation of the external genitalia in female infants, with clitoral
hypertrophy阴蒂肥大 and variable fusion 变量熔合of the labia阴唇 (see
Case History 26.3)
In the infant male, the penis may be enlarged and the scrotum pigmented, but
these changes are often only noted once the diagnosis has been made
• Salt-losing adrenal crisis in the 80% of males who are salt losers; this
occurs at 1 week to 3 weeks of age, presenting with vomiting and weight
loss, hypotonia and circulatory collapse循环抑制. A salt-losing crisis is
less common in girls as the virilization 女性男性化is noted early and
treatment started before salt loss is signifcant
•Tall stature高身材 in the 20% of non-salt losers; both male and female non-
salt losers also develop a muscular build, adult body odour, pubic hair, and
acne from excess androgen production, leading to precocious早熟 pubarche
阴毛初现.
There may be a family history of neonatal death if a salt-losing crisis had not
been recognized and treated.
 Insight
A 2-week-old infant attends the Emergency Department with the following blood test results from
a non-haemolysed sample: sodium 125 mmol/I, potassium 6.5 mmol/l, urea 7.9 mmol/l, creatinine
67 pmol/l. The parents report that the baby had been vomiting after their feeds, but they put this
down to simple possets. In addition, the midwife has accurately documented that the baby has lost
15% of its birth weight and not regained this. On examination of the baby's external genitalia area
you note what you think could be an enlarged penis. If the baby is a boy with 21-hydroxylase
deficiency, which of the following would be most in keeping with this diagnosis?
A. Ambiguous genitalia and a salt-losing crisis
Salt retention and hypertension are seen in
B. An enlarged penis and a salt-losing crisis 11-hydroxylase deficiency.
Female infants with congenital adrenal
C. An enlarged penis, salt retention and hypertension hyperplasia tend either to be masculinised or
to have ambiguous genitalia.
D. Masculinised and a salt-losing crisis
E. Masculinised , salt retention and hypertension
 Diffrential Diagnosis

In 11Beta-hydroxylase deficiency, the picture is similar to that of classic 21- hydroxylase deficiency in terms of
virilisation; this accounts for 5% of cases of CAH. However, owing to the accumulation of deoxycortisone,
there is no salt-wasting; if the accumulation is excessive, there may be hypertension.
Diffrential Diagnosis
Regarding congenital adrenal hyperplasia先天
性肾上腺皮质增生症 (CAH), which of the
following statements are correct EXCEPT?

A. The commonest type is 21-hydroxylase

deficiency21-羟化酶缺陷症

B. If the condition is caused by classic 21-

hydroxylase deficiency, virilisation of the
female is seen

C. If it results from 11Beta-hydroxylase,

virilisation is seen in the female

D. It can present with a high urinary K+ level

and dehydration

E. If due to 3 Beta-hydroxysteroid
dehyrogenase deficiency, the neonate can
present with clitoromegaly
 Diagnosis
A 2-week-old infant attends the Emergency Department with the This is made by fnding markedly raised
following blood test results from a non-haemolysed sample: sodium levels of the metabolic precursor 17α-
125 mmol/I, potassium 6.5 mmol/l, urea 7.9 mmol/l, creatinine 67 hydroxy-progesterone 17羟基孕酮in the
blood. In salt losers, the biochemical
pmol/l. The parents report that the baby has been vomiting after their
abnormalities are:
feeds, but they had been putting this down to simple possets. In • Low plasma sodium
addition, the midwife has accurately documented that the baby has lost • High plasma potassium
15% of its birth weight and not regained this. Given the most common • Metabolic acidosis代谢性酸中毒
enzyme deficiency that the baby could have, which one of the • Hypoglycaemia.血糖过低
following is likely to show reduced levels?
A. 11-deoxycortisol脱氧皮质醇
B. 17-alpha-hydroxyprogesterone羟基孕酮
C. 21-hydroxyprogesterone羟基孕酮
D. Cholesterol 胆固醇
E. Progesterone黄体酮
 Summary
Concerning 21-hydroxylase deficiency, select
the MOST appropriate statement from the
following.
A. A reduced serum 170H-progesterone is
characteristic
B. Hypertension is common
C. It can present as premature isosexual
development in boys
D. Its inheritance is autosomal dominant
E. Plasma potassium is low in salt losers
 Primary adrenal insuffciency(Addison disease)
This is rare in childhood and may result from: An autoimmune process, sometimes in
association with other autoimmune endocrine disorders, e.g. diabetes mellitus,
hypothyroidism甲状腺功能减退, hypoparathyroidism甲状旁腺功能减退
• Haemorrhage/infarction – neonatal(birth injury, meningococcal septicaemia脑膜炎球菌
败血症(Waterhouse-Friderichsen syndrome)
• X-linked adrenoleucodystrophy肾上腺白质营养不良, a rare neurodegenerative
metabolic disorder
• Tuberculosis
Adrenal insuffciency肾上腺功能不全 may also be secondary to pituitary dysfunction
from hypothalamic–pituitary disease or from hypothalamic–pituitary–adrenal suppression
following long-term corticosteroid therapy长期类固醇治疗. ( Steroid usage, Steroid
withdrawal)
• Congenital adrenal hypoplasia X linked (hypogonadotropic hypogonadism低促性腺素性功能减退症)
•Congenital adrenal hyperplasia
 Presentation
Infants present acutely (Box 26.10) with a salt-losing crisis失 Addison's disease is associated with
盐危机, hypotension 低血压and/or hypoglycaemia. which of the following? Choose 2
Dehydration may follow a gastroenteritis-like illness, from
which the child recovers until the next episode. In older
A. Hypoglycaemia
children, presentation is usually with nonspecifc symptoms, B. Vitiligo
such as fatigue, and pigmentation 色素淀积(Fig. 26.13). C. Hypertension
Postural hypotension can be a clue: check lying and standing D. Hypokalaemic
blood pressure. E. Hypocalcaemia
 Diagnosis
This is made by finding hyponatraemia The following statements refer to Addison disease
and hyperkalaemia, often associated 肾上腺皮质功能减退. Select the MOST
with a metabolic acidosis and appropriate.
hypoglycaemia. The plasma cortisol is A. Fatigue is a common presenting feature
B. It can present with hyperglycaemia if in crises
low and the plasma ACTH
C. It is more common in boys
concentration high (except in pituitary
D. Serum renin is characteristically low
dys func tion). With a n A C T H E. The short Synacthen test is normal
(Synacthen) test, plasma cortisol
concentrations remain low in both
primary adrenal dysfunction and in
long-standing pituitary/ hypothalamic
dysfunction. A normal response
excludes adrenal insuffciency
 Management
An adrenal crisis requires urgent treatment
with intravenous saline, glucose and
hydrocortisone. Long-term treatment is
with glucocorticoid and mineralocorticoid
replacement. The dose of glucocorticoid
needs to be increased by three times at
times of illness or for an operation.
Parents are taught how to inject
intramuscular hydrocortisone in an
emergency. All children at risk of an
adrenal crisis should wear a MedicAlert
bracelet or necklace and carry a steroid
card
A 16-year-old girl with Addison's disease is intolerant of her
hydrocortisone treatment, which she takes at a dose of 20 mg
in the morning and 5 mg in the evening.
Which of the following doses of prednisolone would provide an
approximate equivalent daily dose to her hydrocortisone?
A. 1 mg
B. 7.5 mg
C. 10 mg
D. 12.5 mg
E. 15 mg
Equivalent dose of prednisolone vs hydrocortisone therapy is
usually about 25% of the hydrocortisone dose. Adequacy of
steroid replacement is normally assessed by clinical well being
and restoration of normal (not excessive) weight. Cortisol levels
during the day are only a useful assessment if the patient is on
hydrocortisone. Patients normally require therapy with
mineralocorticoids as well as glucocorticoid therapy. Standard
therapy is with fludrocortisone 50-300 microgram/day, and
effectiveness is assessed by serum electrolytes, postural
change in blood pressure, and suppression of plasma renin
activity to normal levels.
 Insight
A 16-year-old teenage girl is admitted to A&E having collapsed at a nightclub. She is shocked
and unable to give a coherent history, but is found to have a card in her purse that indicates that
she is on steroids for adrenal failure. A clinical diagnosis of an addisonian crisis is made and a
blood sample is taken for cortisol measurement. Which of the following should be given the
most priority in her management?
A. Correction of any hypoglycaemia

B. Parenteral administration of hydrocortisone

C. Replacement of mineralocorticoid
D. Resuscitation with intravenous physiological saline and hydrocortisone
E. Treatment of any precipitating factor
 Basic Review
Regarding cortisol皮质醇, which of the following
statements is most accurate?

A. Decreases gluconeogenesis糖质新生

B. Is needed for the action of other hormones , e.g.

adrenaline, glucagon肾上腺素、胰高血糖素

C. Is under adrenal control肾上腺控制

D. Promotes the inflammatory response

E. Retains a water load

Cortisol is the principal glucocorticoid糖皮质激素

and it has a vital role in stress responses. As an
insulin counter-regulatory hormone it increases
gluconeogenesis糖质新生, hepatic glycogenolysis
肝糖分解and ketogenesis生酮作用. It inhibits the
inflammatory response following injury and
causes secretion of a water load. Cortisol is
under pituitary control from adrenocorticotrophic
hormone 促肾上腺皮质激素(ACTH).
 Cushing syndrome
Glucocorticoid 糖皮质激素excess in • 生长不足/
children is usually a side-effect of •红的脸颊 身材矮小
•多毛症 • 脸部和躯
long-term glucocorticoid treatment 干肥胖
•细沟
(intravenous, oral or, more rarely, •高血压 肌肉萎
inhaled, nasal, or topical) for •瘀伤 缩和虚
conditions such as nephrotic syndrome •碳水化合 弱
物不耐受
or asthma 肾病综合症、哮喘肌营养
•骨量减少
不良蛋白(Box 26.11 and Fig. 26.14). •心理问题
Corticosteroids are potent growth
suppressors and prolonged use in high
dosage will lead to reduced adult
height and osteopenia. 骨量减少. This
unwanted side-effect of systemic
corticosteroids is reduced by taking
corticosteroid medication in the
morning on alternate days.
 Cushing Syndrome
Other causes of glucocorticoid excess are rare. It may be Features of Cushing Syndrome due to adrenal
ACTH-driven, from a pituitary adenoma, usually in older carcinoma肾上腺癌 include which of the following?
children, or from ectopic ACTHproducing tumours, but 3 Options
A. Pigmentation色素淀积
these almost never occur in children. ACTH-independent
B. Proximal myopathy近端肌病
disease is usually from corticosteroid therapy, but may be C. Hypokalaemic alkalosis低钾血碱中毒症
from adrenocortical tumours肾上腺癌 (benign or D. Acne
malignant), when there may also be virilisation男性化; E. Normal ACTH circadian rhythm痤疮
these usually occur in young children.

A diagnosis of Cushing syndrome is often questioned in

obese children. Most obese children from dietary excess are
tall compared with their midparental height父母身高中值,
in contrast to children with Cushing syndrome, who are
short and have growth failure
 Cushing Syndrome
The 24-hour urine free cortisol is also high. After the If Cushing syndrome is a possibility, then the normal
diurnal variation of cortisol (high in the morning, low at
administration of dexamethasone at night time, there is
midnight) may be shown to be lost – in Cushing
failure to suppress the plasma 09.00 hour cortisol levels the syndrome the midnight concentration is also high（午夜
following morning. Adrenal tumours 肾上腺肿瘤are 唾液皮质醇）.
identifed on computed tomography or magnetic resonance
imaging (MRI) scan of the abdomen and a pituitary
adenoma垂体腺瘤 on MRI brain scan. Adrenal tumours are
usually unilateral and are treated by adrenalectomy肾上腺
切除术 and radiotherapy if indicated. Pituitary adenomas
releasing ACTH (Cushing disease) are best treated by
transsphenoidal resection经蝶窦手术, but radiotherapy can
be used
 Insight
In Cushing syndrome caused by ectopic
ACTH secretion异位促肾上腺皮质激素分
泌综合征, which of the following may
occur? 2 Options
A. S u p p r e s s i o n w i t h h i g h d o s e
dexamethasone大剂量地塞米松
B. Hypokalaemia低钾血症
C. Hypocalcaemia 低钙血症 (1.25 mg of
dexamethasone/m2)
D. Metabolic alkalosis代谢性碱中毒
E. Raised aldosterone醛固酮

There is no suppression 没有抑制of ACTH secretion with high dose dexamethasone when the ACTH is of an
ectopic nature. Dexamethasone will stimulate cortisol levels, including negative feedback on the pituitary gland.
When dexamethasone is administered and a blood sample is tested, high cortisol would be indicative of
Cushing syndrome because there is an ectopic source of cortisol or ACTH (e.g: adrenal adenoma) that is not
inhibited by the dexamethasone. Hypokalemic metabolic alkalosis低钾性代谢性碱中毒 may occur.
Which of the following is more commonly seen in Wilms' Tumour rather than
Neuroblastoma? 下列哪項更常見於腎母細胞瘤，而不是神經母細胞瘤？
A. 體重下降
A. Weight loss B. 骨痛
B. Bone pain C. 瘀傷
D. 紅色尿
C. Bruises E. 腹脹

D. Red urine
E Abdominal distension
 Differentiating between IgA nephropathy and post-streptococcal glomerulonephritis

• Post-streptococcal glomerulonephritis 链球菌感染后肾小球肾炎is associated with low

complement levels
• Main symptom in post-streptococcal glomerulonephritis is proteinuria (although haematuria
can occur)
• there is typically an interval between URTI and the onset of renal problems in post-
streptococcal glomerulonephritis
A 14-year old boy is admitted for passing red urine for 2 days. He has runny nose and sneezing
since 2 days ago. There is no reduction in urine output. There are no other significant
symtoms,and no recent drug ingestion. Examination show blood pressure of 110/63mmhg,but
otherwise normal findings. Urine examination showed 3+ haemstik, 2+albustik, numerous red
cells and cell casts. Blood test shows increased blood creatinine(254umol/l). Complement level is
normal.
Most lilely diagnosis
A. AcutePSGN 链球菌感染后肾小球肾炎
B. Acute Haemolysis
C. Rhabdomyolysis横纹肌溶解
D. IgA nephropathyIgA肾病
E. March Haemoglobinuria
A 9-year-old girl presented 10 days previously with fever, headache, sore throat following appearance of a skin
rash consisting of diffuse erythema involving the neck, axillae and inguinal areas and subsequently spreading to
the rest of the body. She received a short course of antibiotics from her GP with improvement of her symptoms.
In the past one to two days, her mother noted her urine decreased in amount and became dark in colour. Blood
pressure was found to be 150/95mmHg.

Which is the MOST LIKELY condition?

A. Infectious mononucleosis
A.传染性单核细胞增多
B. Kawasaki disease
b .川崎病
C. Measles c .麻疹
d .链球菌感染后肾小球肾炎
D. Post-streptococcal glomerulonephritis e .系统性红斑狼疮

E. Systemic lupus erythematosus