Transient myeloproliferative disorder: A pointer to underlying trisomy 21

A 19-day-old male neonate was presented with abdominal distension, refusal to feed, and high-grade fever, suggestive of late-onset sepsis. Apart from a suspected clinodactyly, no dysmorphism was present. The hemograms were suggestive of leukocytosis with 29% blasts and flow cytometry revealed acute myeloid leukemia. Due to the presence of congenital leukemia, the dysmorphism in the child was investigated and a karyotype revealed trisomy 21; a diagnosis of transient myeloproliferative disorder (TMD) was made. The child developed significant bleeding, impending congestive cardiac failure and significant weight loss, and prompting initiation of low-dose chemotherapy with cytarabine. The child improved following therapy but developed fungal sepsis and multiple joint osteomyelitis secondary to the chemotherapy-induced myelosuppression which was managed with antibiotics. The child was discharged and is on close 3 monthly follow-up to screen for acute megakaryoblastic leukemia, as babies with TMD are prone to developing acute megakaryoblastic leukemia in early childhood

Neonatal central diabetes insipidus in a case of hydranencephaly

Neonatal diabetes insipidus (DI) poses both diagnostic and therapeutic challenge to the neonatologists. Neonatal central DI (CDI) is an uncommon disorder which is characterized by polyuria, hypernatremia, high plasma osmolality, and low urine osmolality. Our full-term neonate with an antenatal magnetic resonance imaging showing hydranencephaly presented to us on day 4, with persistent hypernatremic dehydration along with the polyuria which was not getting corrected by the routine management of hypernatremic dehydration. Further investigations revealed urine hypo-osmolality and high serum osmolality and a good response to oral desmopressin (DDAVP). This helped to diagnose CDI secondary to hydranencephaly. The baby was discharged on oral DDAVP, but unfortunately, the baby succumbed at 3 months of age

Congenital corneal clouding: A case series

Congenital corneal clouding often causes diagnostic dilemma; hence, detailed evaluation and timely intervention are required to decrease the morbidity. Various genetic, developmental, metabolic, and idiopathic causes of congenital corneal clouding include Peters anomaly, sclerocornea, birth trauma, congenital glaucoma, mucopolysaccharidosis, and dermoids. We report a case series of four neonates with congenital corneal clouding admitted in our neonatal intensive care unit, over 5 years. Two cases were of Peters anomaly, one each of primary congenital glaucoma and glaucoma secondary to congenital rubella