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Multiple Congenital Abnormalities

Question:
Shweta Mishra, Piyush Chandel, Supriya Bisht
Department of Neonatology, Fortis Hospital, Noida, Uttar Pradesh, India

Address for Correspondence: Dr. Shweta Mishra, 8/101, Shakti Kunj Apartment, B9/3, Sec 62, Noida, Uttar Pradesh, India. Email: shwetapaed@gmail.com

A 7 days old male infant was referred to us with sepsis, cardiovascular shock, and multiple congenital abnormalities. His birth weight was 2.24 kg and APGAR score was not known. At admission to our unit, he was very sick, had severe respiratory distress, shock (blood pressure was 30/18 mm of Hg), hypoxic and had active bleeding from the nasogastric tube. The abdomen was distended with decreased bowel sounds and there was hepatosplenomegaly. On cardiovascular system examination, he had a systolic murmur. He had dysmorphisms in form of micrognathia, flat nasal bridge, high arched palate, congenital talipes equinovarus deformity, polydactyly (bifid right thumb), limb length discrepancy and bilateral undescended testis (Figure 1). He was put on mechanical ventilation. Inotropes, intravenous (IV) fluids and IV antibiotics were started. Echocardiography showed patent ductus arteriosus (PDA) with an atrial septal defect (ASD). Ultrasound (USG) abdomen and scrotum revealed bilateral undescended testis with right-sided hydrocele. USG cranium revealed hypoplasia of the corpus callosum. Blood culture grew Enterobacter cloacae. Coagulation profile was abnormal. He was given multiple platelets, fresh frozen plasma and packed red blood cell transfusions. Gradually he improved and was extubated on day 4 of admission. A repeat echocardiography on Day 9 of admission showed closure of PDA and only presence of ASD 5.5 mm. After stabilization, MRI brain was done that showed lobar holoprosencephaly, hypoplastic corpus callosum, pons and cerebellum with the prominent fourth ventricle. TORCH titers were negative and ophthalmological evaluation was normal. Karyotype analysis proved the diagnosis.

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