PMID: 8972530Nov 1, 1996Paper

Cockayne syndrome: review of 25 cases

Pediatric Neurology
E OzdirimA Cila

Abstract

Clinical and laboratory findings of 25 patients with classical Cockayne syndrome (CS) are reviewed. A history of consanguinity was present in 21 patients, and 15 patients had at least 1 affected sibling. Apart from the cardinal features of dwarfism, microcephaly, and mental retardation, the most consistent clinical features included photosensitivity (84%), gait disturbances (84%), progeroid appearance (84%), and ocular abnormalities (88%). The most consistent laboratory findings comprised abnormal nerve conduction (slowed conduction in 13 of the 16 cases with an ENMG), and an abnormal brainstem auditory evoked response (BAER) and/or audiometry (abnormal in 13 of the 17 cases in whom either one of them were available). Cerebral atrophy and calcification of the basal ganglia were the next more common laboratory findings. Clinical criteria are useful in most instances in the diagnosis of CS. In patients in whom the clinical features are controversial for a diagnosis of Cockayne syndrome, studies directed to disorders of myelination involving both peripheral and central nervous systems in conjunction with audiometry may aid in the diagnosis.

References

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Citations

Sep 21, 2000·Revista de neurologia·V L Ruggieri, C L Arberas
Dec 4, 2003·Pediatric Dermatology·Matthew M BenderDenise W Metry
Jan 22, 2005·Pediatric Dermatology·Pablo AlmeidaBuenaventura Hernández
Dec 10, 1999·Annals of the New York Academy of Sciences·R A Lewis, A J Sumner
May 9, 2008·Acta Ophthalmologica·Paul A AthanasiovDinesh Selva
May 12, 2000·Mayo Clinic Proceedings·V G EvidenteS Gilman
Dec 3, 2014·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·Cyril GitiauxVincent Laugel
Nov 10, 2014·Acta neurologica Belgica·Betty SimonSridhar Gibikote
Aug 12, 2006·Journal of Child Neurology·Fatma Müjgan SonmezAslihan Tolun
Jul 19, 2002·American Journal of Medical Genetics·Adel A H MahmoudEleftherios P Diamandis
Oct 2, 2012·Photochemical & Photobiological Sciences : Official Journal of the European Photochemistry Association and the European Society for Photobiology·F Kiss, A V Anstey
Oct 1, 1999·Annals of the New York Academy of Sciences·Richard A Lewis, Austin J Sumner

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