My Strangest Case: An Infant With Lumps in Her Belly

Vikramjit S. Kanwar, MBA, MRCP(UK)

Disclosures

June 10, 2020

Background

A 3.5-month-old female infant was referred to me by her pediatrician, after her parents noticed lumps in her belly while bathing her. The infant was a born after a full-term, normal vaginal delivery. She was 8.4 lb (2.8 kg) at birth, with no immediate postnatal issues. She was breast-feeding well and had well-formed soft stools. However, both parents felt that she was significantly smaller than her 3-year-old sister had been at the same age.

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.

She had no fevers, rashes, diarrhea, or any other symptoms of note. The parents were white and from the Midwest. They also had a healthy 3-year-old daughter, with no other siblings or history of stillbirths. The family had no significant history of cancer, blood disorders, or neurologic disorders.

Physical Examination and Workup

Upon examination, the infant appeared small but not emaciated. Her length was 21.25 inches (54 cm), which put her in the lower third percentile. Her weight was 9 lb (4.1 kg), which also put her in the lower third percentile. Her head circumference was 15.75 inches (40 cm), which placed her in the 50th percentile.

She had moderate pallor, but no bruising or petechiae. Her oral mucosa were normal, with no ulceration or patches and no rashes or skin nodules. Her anterior fontanelle was 0.98 inch (2.5 cm) and flat. Intermittent nystagmus was noted. 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.

Her remaining neurologic examination findings were normal. She evenly kicked with both legs, brought her hands to midline, and had minimal head lag on dorsal suspension. No palpable adenopathy was noted in her neck, axillae, or groin. Her chest was clear, with no distress. Cardiovascular examination revealed normal heart sounds, with a benign ejection systolic murmur. Palpation of the abdomen was significant for marked hepatomegaly (edge 1.57 inches [4 cm] below the right costal margin) and splenomegaly (edge 1.97 inches [5 cm] below the left costal margin).

Her hemoglobin level was 7.8 g/dL. Her total white blood cell count was 28,900 cells/µL, with a differential count of 31% polymorphonuclear cells, 57% lymphocytes, 3% eosinophils, and 9% monocytes; no leukemic blasts were observed on the smear. Her platelet count was 40,000 cells/µL. Liver test and renal function test results were within normal limits. Abdominal ultrasonography confirmed hepatosplenomegaly, but no other masses were seen.

At the end of the day, no clear-cut diagnosis was apparent. Although congenital infections, such as cytomegalovirus (CMV) or HIV, could account for some findings, the history simply didn't fit. The child was well at birth and only now developing problems. The degree of hepatosplenomegaly was also unusual. If that was due to CMV, her liver enzyme levels should have been elevated. However, because viral screening tests were easy to obtain, they were pursued, with a follow-up appointment scheduled in 3 days.

Other causes, such as storage disorders, a primary immune deficiency, or cancer, would be harder to exclude. We were clearly dealing with a rare condition, but what was it?

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