Publication: Progeroid Syndrome of De Barsy With Hypocalcemic Seizures
Date
2012
Authors
Article Type
Case Report
Journal Title
Journal ISSN
ISSN 1990-7974 eISSN 1990-7982
Volume Title
Pages
Pages: 175 - 177
Publisher
Nepal Paediatric Society (JNPS)
Abstract
Abstract:
De Barsy et al first reported a rare cutaneo-oculo-cerebral malformation-syndrome now commonly referred as ‘progerioid syndrome of de Barsy’. It is the constellation of progeria-like appearance, cutis laxa, intrauterine growth retardation, corneal clouding and hypotonia. We report a case of Debarsy syndrome in a neonate presented at birth with typical clinical features with hypocalcemic seizures. There are no previous reports among Afghani origin and also first case reported from United Arab Emirates, there have been no reported cases of hypocalcemic seizures.
Description
J Cheriathu
Department of Pediatrics, Gulf Medical College Hospital, Ajman
IE D'souza
Department of Pediatrics, Gulf Medical College Hospital, Ajman
LJ John
Department of Pharmacology, Gulf Medical University, Ajman
R El Bahtimi
Consultant Dermatopathologist, American Hospital, Dubai
Keywords
De Barsy, Progeroid syndrome, cutis laxa
Identifier
https://doi.org/10.3126/jnps.v32i2.5993