Monosomy 18p and hepatosplenomegaly

To the Editors, An 11­month­old infant, previously known to have a chromosome 18p­ deletion, came to the clinic for her six months old well child care visit. Palpable hepatosplenomegaly was found and as a result, an abdominal ultrasound and complete blood count (CBC) were ordered. The CBC was normal except for monocytosis of 1.7x103/mm3 (normal­ 0.1–1x103/mm3). The abdominal ultrasound confirmed hepatosplenomegaly of 9.2 cm found on physical examination. As per her mother, three months prior to her visit, while traveling abroad, the infant had an episode of clear nasal discharge, wet cough, intermittent fever for 3–4 days and watery diarrhea. The patient was born to a 45­year­old mother, full term at 38 weeks with intrauterine growth restriction and a birth weight of 1970 g. She was born by C­section due to a category 2 tracing. Her mother had chronic hypertension and was on methyldopa. There were no signs of chorioamnionitis. The baby was admitted to the Neonatal Intensive Care Unit for eight days due to low birth weight. The quad screen test showed increased risk of neural tube defects and a fetal amniocentesis reported 46 XX del (18)(p10). Meanwhile, the FISH was that of a LETTER TO EDITORS OPEN ACCESS