robin082006
Forum Hero
Topics: 471
Posts: 5,125
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A 4-month-old male infant is brought to you by his parents complaining that, for the past four weeks, he has been progressively lethargic, feeds poorly, tires easily and has increasing pallor. His antenatal and birth histories are unremarkable. His diet consists mainly of breast milk and his immunizations are up-to-date. The mother's blood type is O+. On examination, you note pallor of the mucous membranes and conjunctivae. He is mildly tachycardic. You also note that he has a webbed neck, cleft lip, shielded chest and triphalangeal thumbs. Cardiac auscultation reveals a systolic ejection murmur over the left upper sternal border. Initial investigations reveal the following:
Hb
8 g/dL
Ht
32 %
MCV
100 fL
Blood type
A -
Platelets
300,000 /cmm
WBCs
10,000/cmm
Reticulocytes
0.4%
Bilirubin direct
0.1 mg/dL
Bilirubin total
1.0 mg/dL
Which of the following is the most likely diagnosis?
A. Wiskott-Aldrich syndrome
B. Transient erythroblastopenia of childhood
C. Idiopathic aplastic anemia
D. Fanconi's anemia
E. Diamond-Blackfan anemia
F. Rhesus incompatibility
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| hanialkhadher
Forum Elite
Topics: 16
Posts: 256
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(E) this is Diamond-Blackfan anemia due to cleft lip and abnormal thumb and other skeletal findings,it is a pure red cell aplasia.
D. Fanconi's anemia chch by absent thumb.
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