Browsing by Author "De, Sangita"
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Publication Bardet Biedl Syndrome(Nepal Paediatric Society (JNPS), 2013) Ghosh, Taraknath; De, Sangita; Pati, Sananda; Kumar, Prabhat; Chaki, BhusanAbstract: This is a case report of Bardet-Biedl syndrome, diagnosed in a 8 year old girl presented with obesity. She had polydactyly, mild mental retardation, retinitis pigmentosa in both eyes, with hypoplastic uterus, fallopian tube and ovaries. She was born to a consanguinous marriage and had a family member with same features.Publication Can Neonatal Pneumoperitoneum be Managed by Conservative Management Alone?(Nepal Paediatric Society (JNPS), 2012) Pati, Sananda; Chaki, Bhushan; Roy, Atanu; De, SangitaAbstract: Common causes of pneumoperitoneum in neonates includes necrotising enterocolitis (NEC), specific infections, gastro intestinal obstruction, iatrogenic causes, idiopathic focal intestinal perforation, perforation secondary to intra thoracic pathology, mechanical ventilation etc. Primary peritoneal drainage and exploratory laparotomy remain the definitive management of pneumoperitoneum in neonates. Here we report a case of suspected spontaneous idiopathic intestinal perforation managed conservatively with monitoring of vital signs. The neonate had an uneventful recovery. This case highlights the need to identify infants with benign or non surgical causes of pneumoperitoneum thus avoiding unnecessary laparotomies and referrals in these vulnerable neonates.Publication Miller Dieker Syndrome as a Cause of Refractory Seizures(Nepal Paediatric Society (JNPS), 2014) Pati, Sananda; De, Sangita; Nag, Sankha Subhra; Nayek, KaustavAbstract Miller-Dieker syndrome is a genetic deletion syndrome characterized by neuronal migration disorder lissencephaly where the exterior of the brain is abnormally smooth with fewer folds and grooves and characteristic facial dysmorphism. A one year old boy born presented to our emergency with severe respiratory distress and recurrent convulsions. A diagnosis of Miller Diecker syndrome was made consistent with typical clinical features and investigations. The child was managed symptomatically, however the seizures remained refractory and the child succumbed on day three of admission. Diagnosis of rare diseases like this is necessary not only for management but also for predicting recurrence in the family and genetic counselling.Publication Sanfilippo Disease(Nepal Paediatric Society (JNPS), 2012) Barik, Kanal Lal; Kumar, Prabhat; Ghosh, Tark Nath; De, Sangita; Basu, SamitAbstract: Sanfilippo disease is a type of Mucopolysaccharidosis, a hereditary progressive disease caused by mutation of gene for degradation of acid mucopolysaccharides. Early detection of this rare disease would enable screening and genetic counseling for asymptomatic family members.