A Severe and Rapidly Progressive Case of Proteus Syndrome in a Neonate Who Presented with Unilateral Hydrocephalus Apart from Other Typical Features of the Proteus Syndrome
A 5-day-old male baby presented with enlarging head size and multiple physical abnormalities. He was the first child of nonconsanguineous parents. The pregnancy had been uneventful. He was born by caesarean section with birth weight of 2600 gm (5th centile), length 50 cm (50th centile), and head circumference 38 cm (>90th centile). The baby was on breast feeds. There was no relevant family history.\nOn physical examination, the baby had marked right-sided hemihypertrophy involving face and cranium. The facial hemihypertrophy included enlarged palpebral fissure, cheek, ear, and lip []. There was marked wasting of subcutaneous tissue of arms and thighs on both sides. Capillary hemangioma large in size was present in both flanks. There was venous prominence over scalp and trunk. Multiple subcutaneous masses were palpable over both thighs clinically appearing to be lipomas. The second and third toes of the left foot were significantly enlarged []. The head circumference has increased to 39.2 cm (95th centile).\nA cranial ultrasonogram (USG) was carried out which revealed selective dilatation of the right ventricle with partial occlusion of the right foramen of monro []. The brain parenchyma, left lateral ventricle, corpus callosum and cerebellum were normal. The cranial USG finding together with rapidly increasing head circumference in our patient indicated toward right-sided unilateral hydrocephalus. Computed tomography of the head was advised to confirm the USG finding and to detect any other associated CNS anomalies. But the baby became lethargic on day 7 of life. He developed marked respiratory distress. Examination revealed a bluish discoloration over anterior trunk and a large venous prominence visible over left side of chest and abdomen originating from mid axillae with flow from upward to downward []. The platelet count was 30×103/μl. Other parameters of hemogram and sepsis screen were normal. Duplex scan of chest and abdomen was advised but the baby died before the investigation. Parents refused to go for autopsy.