A five-year-old boy presented with gradually increasing pallor, purulent ear discharge and fever for 2 months and epistaxis for 1 day. On physical examination, he had severe pallor and petechiae all over the body. There was no lymphadenopathy. He had short stature (height 90 cm), generalized hyperpigmentation, microcephaly (head circumference 46.5 cm), low set ears and receding hair line (Fig. 1). His hands (Fig. 2) showed hypoplastic thenar eminence and on both sides thumbs were attached with a skin tag. Radial pulses were not palpable. Systemic examination was normal.

Fig. 1. Note the microphaly, low set ears and effect of androgens (after therapy)

Investigations revealed pancytopenia and hypoplastic bone marrow. Diagnosis of Fanconi's pancytopenia was made which was confirmed with finding of clastogenic chromosomal breaks (51 % compared to less than 10% in normal individuals). Ultrasonographic examination of abdomen was normal. X-ray wrist including upper limbs showed hypoplastic metacarpals and phalanges. Both radii were normal.

Fig. 2 Shows the rudimentary thumbs attached to hands by a skin tag and hyperpigmentation.

The child was treated with antibiotics and blood transfusions. He was started on injection testosterone weekly and was later switched on to oral stanozolal. Now with over 3 years follow up, he is requiring blood transfusions 1-2 times per year only.

Fanconi's constitutional aplastic anemia is a rare clinical entity. The hallmark of the disease is clastogenic chromosomal breakage.

Physical anomalies and pancytopenia are not essential for diagnosis. The characteristic findings as seen in our case are described in upto 50% cases only. Patients with constitutional pancytopenia do not respond well to ATG or ALG therapy. Bone marrow trans- plantation has cured some patients. Response to androgens is described in 50% patients in literature.

 

Shishir Bhatnagar,
Jagdish Chandra,
Shashi Narayan,
Vipul Jain,
Departments of Pediatrics and Pathology,
Lady Hardinge Medical College and
Kalawati Saran Children's Hospital,
New Delhi 110 001,
India..