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MORNING REPORT

JUNE 30
TH
, 2014
Jawaria K. Alam, MD/PGY3
HPI
ID:
MS is 13 year old Hispanic female who was recently diagnosed with profound
primary hypothyroidism (4 months prior to current presentation) after developing
s/s of fatigue, dry skin, thinning hair and joint pain who now presents with
pancytopenia.

HPI:
Pt and aunt report that she was previously healthy until approximately 5-6
months ago when she had abdominal pain and was diagnosed with appendicitis
resulting in appendectomy. 1 month following her appendectomy she began
complaining of back pain and pain in her legs and was found to have a UTI.
However, she was also complaining of symptoms of fatigue, thinning hair and dry
skin and so was referred to Endocrinology where she was diagnosed with
hypothyroidism and began treatment with levothyroxine.

After starting treatment with Levothyroxine family note she seemed to improve
briefly. However, over the last 3 months she continues to complain of fatigue and
continued bone pain to her thighs/knees and back. She has also developed a
rash on her hands and face and is having fevers on and off for the past 2 months.
ROS
On further ROS:
Constitutional: Fevers on and off for 2 months, no night sweats or chills
GEN: Fatigue preventing school attendance/daily activities, worse over last 2 weeks
HEENT: Hair loss and thinning; Scleral icterus for 3 months and periorbital edema for
approximately 3 months
CV: Denies chest pain, but noted edema in face and feet for 3 months
RESP: Positive for shortness of breath and nonproductive cough x 1 week
GI: Mixed diarrhea/constipation over the past several weeks without any hematochezia or
melena
FEN: 2-3 months decreased oral intake, anorexia, 6 lb weight loss. Endorses nausea and
had intermittent vomiting this week
GU: History of UTI, no current dysuria or hematuria
HEME: Bleeding gums for two weeks, did note a large clot from her lower gums once;
epistaxis one minute daily for the past week
MSK: Weakness, bone and joint pain for 5-6 months
SKIN: Rash to face for 1 year, however, worse over the last 3 months. Additionally skin
sallow in appearance x 3 months; dry skin; no pruritis
NEURO: No headaches or visual changes

HPI
Past Medical Hx:
Hypothyroidism
At diagnosis Free T4 undetectable, TSH high at 252
Delayed menarche and delayed bone age
UTI x 1 following surgery

Surgical Hx:
Appendectomy

Medications:
Levothyroxine 125 mcg qday

Allergies:
NKDA

HPI
Family Hx:
Maternal grand aunt with thyroid
dysfunction. Paternal family history unknown. No
other family history of any other specific
gastrointestinal, hepatic, pancreatic, hematologic,
oncologic or autoimmune disease.

Social Hx:
Living with maternal aunt for approximately 10
months. Born in CA. No recent travel history. Aunt's
three children and their father also live at home with
them. Mother lives in the Midwest. Mother not
currently legal guardian of patient.

Physical Exam
VS: T: 38.2 HR: 111 RR: 17 BP: 105/70 SaO2: 97% RA
GEN: Alert but tired. Ill appearing. Appears smaller than age.
HEENT: Normocephalic. Mild scleral icterus. Pupils are reactive
and equal. EOMs intact. Erythema and ulceration of hard palate.
Facial erythematous rash, prominent on bridge of nose. No
gingival oozing. Tympanic membranes normal with good light reflex.
No nasal discharge, but light amount of dried blood in right nare.
LYMPH: Ant chain 2+ LAN, soft, mobile, no supra/sub clavicular,
axillary LAN.
RESP: Lungs are clear to auscultation bilaterally without
adventitious sounds, no increased work of breathing. Positive dry
cough in clinic noted.
CV: Regular rate and rhythm with intermittent S3 noted. Hands
and feet cool to touch with CRT 3-4 sec.
Physical Exam continued
ABD: Distended, but soft. BS present and normal. Liver
edge 7 cm below RCM. No splenomegaly.
BACK/SPINE: Reports tenderness to back mid-lumbar
area. No swelling/erythema.
MSK: Bilateral knee effusions. Bilateral ankle and feet
swelling.
EXT: No visible deformities, no cyanosis or clubbing. Pitting
edema on dorsum of feet to mid shins.
SKIN: Diffuse lace like macular erythematous rash over
palms, fingers and toes. Diffuse alopecia.
NEURO: Alert and responsive, appropriate, oriented. No focal
abnormalities. No ataxia or adventitious movements.

Laboratory
CBC w/diff:
WBC: 3.6, Hgb: 6.4, Hct: 19.8, Plts: 133
Diff: 9% Bands, 81% N, 7% L
Imaging
Differential Diagnosis
13 yo Hispanic female with recent dx of
hypothyroidism who now presents with
hepatomegaly, pancytopenia, cardiomegaly,
rash and fevers.

What other labs or studies do you want?
Differential Diagnosis
GI
Autoimmune
Hepatitis
Infectious
Hepatitis
Acute Hepatic
Failure
Wilson Disease
Celiac Disease
Inflammatory
Bowel Disease
Endo
Hypothyroidism
Heme/Onc
Leukemia
Lymphoma
Hepatoblastoma
Hepatocellular
carcinoma
MAS/HLH
ID
Pyogenic liver
abscess
Peritoneal
Abscess
EBV
HIV
Hep B
Rheum
SLE
Systemic Onset
JIA
Sarcoidosis
Dermatomyositis
MCTD
CV
Myocarditis
Acute pericarditis
Systemic Lupus Erythematosus
(SLE)
Multisystem autoimmune disease that affects the skin
and internal organs
Characterized by pathogenic circulating autoantibodies
MC involved organs: skin, joints, kidneys, blood forming
cells, blood vessels, and the CNS
Incidence in children <18 is 10-20 new cases per
100,000 per year
Higher rates in Americans of African, Asian and Hispanic
origin
Females to males 4:1, increasing to 9:1 in women of
childbearing age
Rare to make diagnosis before the age of 5

SLE- Etiology and Pathogenesis
Etiology poorly understood. Several factors likely
influence risk and severity of disease
Genetics, hormonal milieu and environmental
exposures
Hallmark of SLE is the generation of
autoantibodies directed against self-antigens,
particularly nucleic acids
Apoptosis
Autoantibodies -> Immune complexes (IC)
Deposition of IC -> Local complement activation,
initiation of a pro-inflammatory cascade -> Tissue
damage
1997 American College of Rheumatology (ACR)
Classification Criteria for SLE
Needs 4/11 of following criteria:
Malar rash (butterfly rash sparing nasolabial folds)
Discoid lupus rash
Photosensitivity
Oral or nasal mucocutaneous ulcerations (usually painless)
Non-erosive arthritis
Nephritis (proteinuria and/or cellular casts)
Encephalopathy (seizures and/or psychosis)
Cytopenia (thrombocytopenia, lymphopenia, leukopenia,
Coombs positive hemolytic anemia)
Positive ANA
Positive immunoserology (anti-dsDNA, anti-Sm,
antiphospholipid antibodies)
Other Clinical Features- Not included in
Classification Criteria
Constitutional Symptoms- Fever, fatigue,
weight loss, anorexia
Other rashes maculopapular rashes 2/2
vasculitis
Polyarthralgia
Raynaud phenomenon
Lymphadenopathy
Hepatomegaly, Splenomegaly
Hypertension
Other Laboratory findings in SLE
Elevated ESR with normal CRP
Low complement levels (C3, C4)
Elevated IgG levels
Other autoantibodies: anti-Ro, anti-La, anti-
RNP, RF
Treatment
Hydroxychloroquine
Standard therapy for SLE
Proven efficacy in decreasing frequency and severity of disease flares
Corticorsteroids
Often used in initial treatment depending on severity and organ
involvement
Pulse therapy for severe lupus nephritis, hematologic crisis or CNS
disease
Azothioprine
Typically for hematologic and renal manifestations
Mycophenolate Mofetil
Typically for hematologic, renal and CNS manifestations
Cyclophosphamide
Used for severe renal and CNS manifestations
Rituximab
Used for resistant thrombocytopenia
Natural Course and Outcomes
Relapsing and remitting course of disease
10 year survival >90%
Morbidity related to disease and treatment
Early onset of coronary artery disease
Bone disease- osteopenia, AVN
Malignancy
Mortality usually related to infection, renal,
CNS, and pulmonary disease

A mnemonic for SLE diagnostic criteria

A RASH POINts MD:
Arthritis

Renal disease (proteinuria, cellular casts)
ANA (positive antinuclear antibody)
Serositis (pleurisy or pericarditis)
Hematological disorders (hemolytic anemia or leukopenia or lymphopenia or
thrombocytopenia)

Photosensitivity
Oral ulcers
Immunological disorder (anti-dsDNA, anti-Sm, antiphospholipid antibodies)
Neurological disorders (seizures or psychosis, in the absence of other causes)

Malar rash
Discoid rash
References
A Residents Guide to Pediatric
Rheumatology- 2011 Revised Edition from
The Hospital for Sick Children
Medstudy
Nelson Textbook of Pediatrics
Visual Dx
Zitelli and Davis Atlas of Pediatric
Physical Diagnosis