An unusual case of perinatal tuberous sclerosis
Deeparaj Ganapati Hegde1, Jayashree Mondkar1, Harshad Panchal1
1Department of Neonatology, Lokmanya Tilak Municipal Medical College and Hospital, Sion, Mumbai, Maharashtra, India.
Abstract:
We report a case of a neonate who presented to us with multiple rhabdomyomas of heart, cortical tubers in the brain and skeletal anomalies such as Pierre Robin sequence, bilateral clubfoot and lower small bowel obstruction. Though a diagnosis of neonatal tuberous sclerosis was made, the association of skeletal anomalies and intestinal obstruction was a rare and unusual finding.
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