Progeroid Syndrome of De Barsy With Hypocalcemic Seizures

Authors

  • 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

DOI:

https://doi.org/10.3126/jnps.v32i2.5993

Keywords:

De Barsy, Progeroid syndrome, cutis laxa

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.

J Nepal Paediatr Soc 2012;32(2):175-177

doi: http://dx.doi.org/10.3126/jnps.v32i2.5993

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Published

2012-10-01

How to Cite

Cheriathu, J., D'souza, I., John, L., & El Bahtimi, R. (2012). Progeroid Syndrome of De Barsy With Hypocalcemic Seizures. Journal of Nepal Paediatric Society, 32(2), 175–177. https://doi.org/10.3126/jnps.v32i2.5993

Issue

Vol. 32 No. 2 (2012)

Section

Brief Reports/Case Reports/Case Series

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