Xeroderma Pigmentosum - Cockayne Syndrome Complex (XP-CS) - Another Case. | [Journal of Pakistan Medical Association • 2018]

Author(s):

1. Assadullah Metlo: Pediatrics Department 1, Civil Hospital, Karachi,

2. Aiman Rehan: Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan

3. Manahil Akmal: Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan

4. Unzela Iqbal: Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan

5. Momal Jamali: Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan

Abstract:

We present the case of a 3-year old girl with clinical manifestations typical of XP-CS, an extremely rare combination of Xeroderma Pigmentosum and Cockayne Syndrome. She had a swelling above the upper lip and multiple brown spots on her face, neck, arms and back. She was globally delayed, deaf, dumb and photophobic. MRI brain showed mild cerebral atrophy and bilateral demyelination. De Sanctis Cacchione variant (dSCS) and Rothmund Thomson syndrome (RTS), which were among the differential diagnosis were ruled out upon careful evaluation. Supportive treatment was given and regular checkups were recommended to monitor the progression of the disease but our patient did not show up for the follow up. This report shows that the diagnosis of XP-CS can be based on clinical features and MRI findings when the genetic testing is not available.

Page(s): 1531-1534

DOI: DOI not available

Published: Journal: Journal of Pakistan Medical Association, Volume: 68, Issue: 10, Year: 2018

Keywords:

Cockayne Syndrome CS , Xeroderma PigmentosumCockayne Syndrome complex XPCS , Xeroderma Pigmentosum XP

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