Severe form of Cockayne syndrome with varying clinical presentation and no photosensitivity in a family.
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.
Sonmez
Fatma Müjgan
FM
Department of Child Neurology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey. fmaynaci@dr.com
Celep
Figen
F
Ugur
Sibel Aylin
SA
Tolun
Aslihan
A
D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000175:diagnosis* / Q000235:genetics*; D003241:Consanguinity; D005190:Family; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008297:Male; D010787:Photosensitivity Disorders; D012720:Severity of Illness Index; D014057:Tomography, X-Ray Computed; D014421:Turkey