12 WEEK OLD WITH A UTI A 12 week old boy is admitted with a fever and being generally unwell.

He is found to have a urinary tract infection. He is treated with antibiotics and several weeks after the infection resolves he has a number of investigations performed:
Radiological investigation 1.

Radiological investigation 2.

Q1. What kind of investiagtion is radiological investigation 1 and what does is show? Q2. What kind of investiagtion is radiological investigation 2 and what does is show? Answer 1:
Micturating cystourethrogram (MCUG). This shows vesicoureteric reflux on the right side with right sided hydoureter and hydronephrosis. Answer 2: A nuclear medicine investiagtion called a DMSA (dimercaptosuccinic acid) renal scan. It shows that the right kidney is small and scarred with lesions at the upper pole and low/mid lateral territory. EXPLANATIONS Children under the age of 5 years with a UTI frequently have follow-up radiological investigations (see Prodigy Knowledge for further information). In this case the first scan is a MCUG scan where the bladder is catheterised and then filled with contrast medium. In this case it shows abnormal retrograde flow of fluid from the bladder back into the right ureter and kidney (called vesicoureteric reflux). The right sided ureter and collecting system/kidney are distended. Vesicoureteric reflux (VUR) predisposes to UTIs. VUR is also associated with a type of renal damage called reflux nephropathy. In this case the second scan, which involves the injection of a radiolabelled compound called DMSA, shows that the right kidney is small and scarred. This is likely to be secondary to the VUR and infection.

A FLOPPY NEONATE A junior doctor examines the first child of a 28 year old woman as part of a routine "baby-check" prior to discharge from hospital. The baby is 20 hours old. The doctor notices that the baby is hypotonic and also finds a systolic murmur on auscultation of the heart. After further examination by a senior paediatrician the baby's chromosomes are analysed.
The karyotype of the baby.

Q1. What is the diagnosis? Q2. What is the most likely cardiac defect?

Answer 1: Answer 2:

Trisomy 21 (Down syndrome) Atrioventricular septal defect (AVSD

EXPLANATIONS: Hypotonia is one of the most common features of Trisomy 21. Other features include a typical facial appearance (round face, relatively large/protruding tongue, epicanthic folds, upslanting palpebral fissures), brachycephaly, single transverse palmar creases, and wide sandal gap. In this case the diagnosis was confirmed by chromosome analysis - there are three of chromosome 21. There is an increasing risk of trisomy 21 with increasing maternal age and at age 40 the risk is approximately 1 in 110. However, most babies with Trisomy 21 are born to mothers under the age of 40. This is becuase the birth rate for mothers 40 years old or over is so low. A congenital heart defect is present in 40% of babies with trisomy 21 - the most common is an AVSD (Atrioventricular septal defect.)

10 YEAR OLD BOY WITH VOMITING

A previously well 10 year old boy presented to the emergency department following a 6 hour period of vomiting. His parents say that he has been feeling generally unwell for the last week and has lost some weight. On examination he is found to have "sighing" hyperventialtion and to have a reduced level of consciousness - only responding to a sternal pressure by moaning. Urgent blood tests show the following: Blood test results Haematology Hb 17.5 g/dl WBC 23.4 x 109/l Plt 429 Biochemistry Na 136 K 6.4 Ur 12.5 Cr 112 Glucose 33.5 mmol/l Q1. What is the diagnosis? Q2. Why is he hyperventilating? Answer 1: Diabetic ketoacidosis. Answer 2: Kussmaul respiration (secondary to acidosis.) EXPLANATION: Diabetic ketoacidosis (DKA) is a life-threatening emergency and unfortunately is a common presentation of type 1 diabetes. Lack of insulin causes hyperglycaemia and eventually an uncontrolled catabolic state with the production of ketone bodies. DKA can be precipitated by an intercurrent illness. The blood test clues to the diagnosis are a low pH (acidosis). The acidosis is metabolic as shown by the low bicarbonate and large base excess (large negative). Hyperglycaemia is shown by the high blood glucose. The high serum potassium is frequently found in DKA (although total body potassium is usually depleted). Finally the high white blood cell count is a well recognised feature of DKA and does not necessarily indicate infection. A deep "sighing" respiration can be seen in DKA (and other conditions that cause a metabolic acidosis). This is called Kussmaul respiration. It is an attempt to compensate for the acidosis by "blowing-off" carbon dioxide. Venous Blood Gas pH 7.06 Bicarb 9.2 Base Excess -14.8

A VOMITING NEONATE
A 24 hour old baby that was born at term presents with bile stained vomiting. The baby has been bottle fed but it is not feeding well. On examination the baby was noted to have a distended abdomen. An abdominal x-ray was performed:
The abdominal x-ray.

Q1. What is the diagnosis Answer 1:Small bowel atresia / small bowel obstruction. The x-ray shows the gas filled stomach with a grossly dilated duodenum. There are also a few more loops of dilated small bowel seen "superimposed" on the dilated duodenum. There is no colonic gas (no gas seen in the lower abdomen / pelvis). This suggests that there is a blockage in the small bowel and nothing has been able to pass into the colon. A neonate presenting with bilious vomiting is very

suspicious of some form of bowel obstruction. In this case there was a small bowel atresia. Atresia of the small bowel is thought to mainly occur due to interruption of the vascular supply to that area of the bowel whilst in utero.

TODDLER WITH A SKIN LESION

A 16 month old girl is brought to a general practice clinic due to constipation. During the examination this raised skin lesion was seen above the left buttock.
The rasied lesion on the girl's back.

Q1. What is the diagnosis? Q2. What treatment should be offered?

Answer 1: (Capillary) Haemangioma. Answer 2: None for a haemangioma in this anatomical site.
EXPLANATION: This is a haemangioma (often called a strawberry naevus). These are not usually present at birth but develop in the first few weeks or months of life. They initially increase in size until 8 - 12 months and then regress. By school age most will have completely resolved. As there is spontaneous resolution of these lesions no treatment is usually required. The exception is for cases where the position of the haemangioma causes functional problems - for example, if the lesion obscures the visual axis, treatment would be needed to allow normal visual development..

5 MONTH OLD FAILING TO THRIVE A 5 month old boy is seen because of failure to thrive. As part of the investiagtion the following blood tests are done: Hb 4.2 g/dl WBC 12.3 x 109/l Plt 211 x 109/l Haemaglobin electrophoresis: HbA - 0% HbA2 - 9% HbF - 91%
Q1. What is the diagnosis? Q2. What are the main treatment options? Answer 1: Beta Thalassaemia Major Answer 2: 1. Regular blood transfusions with iron chelation therapy; or 2. Bone marrow transplantation. EXPLANATION: The full blood count shows that the baby is severly anaemic (haemaglobin is very low). However the white blood count and the platlets are normal showing that this is a problem of the red cells only. The haemaglobin electrophoresis is very abnormal. A child of this age should predominantly have HbA (normal adult haemaglobin made of 2 alpha chains and 2 beta chains), a small amount of HbF (2 alpha chains and 2 gamma chains), and a small amount of HbA 2 (2 alpha chains and 2 delta chains). In beta thalassamia major a genetic defect causes failure of beta chain production. As gamma chain production ceases (a normal function) the child develops symtoms of anaemia. Other features include growth failure, hepatosplenomegaly, jaundice, heart murmurs or heart failure, bony deformities, and feaures of bone marrow hyperplasia such as frontal bossing and the "hair-on-end" appearance on a skull x-ray ( This disease is invariably fatal without treatment. The mainstay of treatment is with regular blood transfusions. This will eventually lead to iron overload and it is important to give iron chelation therapy. More recently, some centres are offering bone marrow transplantation as a curative therapy.

7 YEAR OLD WITH ABDOMINAL PAIN

A 7 year old boy presented with intermittent abdominal pain and difficulty walking due to painful knees. He had been previously well except for a mild upper respiratory tract infection approximately one week ago. On examination he seems well but a non-blanching rash was seen on the buttocks and the legs (see photo). The rest of the body was spared.
The non-blanching rash.

Q1. What is the diagnosis? Q2. What renal complication can occur? Answer 1:Henoch-Schnlein Purpura (HSP). Answer 2:Glomerulonephritis. EXPLANATION: Henoch-Schnlein Purpura (HSP) is a vasculitis of small vessels. The aetiology is unknown but frequently follows an upper respiratory tract infection. The rash is usually the cornerstone of diagnosis. It is purpuric and has a characteristic distribution typically over the buttocks and legs (especially extensor surfaces). The rest of the body is mostly spared although mild trauma can cause further purpura elsewhere on the skin. This phenomenon can result in a linear rash at the ankle caused by pressure from sock elastic (as in this case - examine, carefully, just above the ankles in the photograph). Colicky abdominal pain is common and joint pain (typically of the knees and ankles) occurs in two thirds of patients. A focal segmental glomerulonephritis is common (about 80% of cases) but is typically mild and usually only manifests by macroscopic or microscopic haematuria.