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Journal of Child Neurology
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Severe Form of Cockayne Syndrome With Varying Clinical Presentation and No Photosensitivity in a Family

Fatma Müjgan Sonmez, MD

Department of Child Neurology Faculty of Medicine Karadeniz Technical University Trabzon, Turkey, fmsonmez{at}yahoo.com

Figen Celep, PhD

Department of Medical Biology and Genetics Faculty of Medicine Karadeniz Technical University Trabzon, Turkey

Sibel Aylin Ugur, PhD

Department of Molecular Biology and Genetics Bogazici University Istanbul, Turkey

We report six patients with Cockayne syndrome type B without photosensitivity. The patients are from the same inbred family and exhibit variable clinical features. The main clinical manifestations were progressive encephalopathy including intracranial calcification and white-matter lesions, dwarfism without growth hormone deficiency, senile appearance, mental and motor retardation, atrophy of subcutaneous fat tissue, severe pectus carinatus, and spasticity. Clinical photosensitivity was not observed in any patient. Other clinical findings were cataract, pigmentary retinopathy, and peripheral neuropathy. The onset of the disease was between 3 and 6 months of age. Molecular genetic analyses in the family established linkage to ERCC6, the gene responsible for Cockayne syndrome type B, confirming the clinical diagnosis. (J Child Neurol 2006;21:333—337; DOI 10.2310/7010.2006.00082).

Journal of Child Neurology, Vol. 21, No. 4, 333-337 (2006)
DOI: 10.1177/08830738060210041601
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