Open AccessAn unusual case of perinatal tuberous sclerosis
Author(s) -
Deeparaj Hegde,
Jayashree Mondkar,
Harshad Panchal
Publication year - 2014
Publication title -
journal of clinical neonatology/journal of clinical neonatology
Language(s) - English
Resource type - Journals
eISSN - 1658-6093
pISSN - 2249-4847
DOI - 10.4103/2249-4847.134710
Subject(s) - tuberous sclerosis , medicine , bowel obstruction , anatomy , pathology , surgery
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.