Strangest Case: An Infant With Lumps in Her Belly
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A 3.5-month-old female infant was referred, after her parents noticed lumps in her belly while bathing her. The infant had been diagnosed twice with ear infections at an urgent care center after inconsolable crying. In each case, her symptoms resolved after administration of an oral antibiotic. The infant had acquired a social smile, gurgled and cooed, and happily kicked and moved all limbs. However, her mother had recently noticed intermittent "jerky" eye movements and felt that she was not tracking and following movements as well as she used to.

Upon examination, the infant appeared small but not emaciated. Her length was 21.25 inches & weight was 9 lb. She had moderate pallor. The child seemed to have difficulty in tracking and following a bright object. Red reflex was present bilaterally however it was not possible to perform fundoscopy.

The laboratory reports "leukoerythroblastic" blood picture, which is the hallmark of extramedullary hematopoiesis. This is extremely rare in childhood, and nystagmus is not a reported finding. Failure to thrive, hepatosplenomegaly, abnormal eye movements, and leukoerythroblastic peripheral blood smear sounds like a case of malignant infantile osteopetrosis. Early hematopoietic stem cell treatment (HSCT) is the treatment of choice, and the 5-year survival is almost 80%.

The child later underwent an alternate-donor allogeneic HSCT. She recovered some of her vision and all of her growth, hearing, and speech with the help of intensive rehabilitation. Today, she is a confident and healthy young woman.

In summary, the old adage held true: A careful history, physical examination, and review of tests yielded an accurate diagnosis.