Waardenburg syndrome: a variant with neurological involvement.
A case of a variant of Waardenburg syndrome is reported. A 13-year-old boy with features of Waardenburg syndrome consisting of facial anomalies, heterochromia of the iris and fundus, and congenital sensorineural deafness had a marked mental and motor retardation and developed severe gait disturbance associated with neurological abnormalities including dystonia, muscular stiffness and peripheral neuropathy. Sural nerve biopsy revealed 'onion bulb' formation.
Kawabata
E
E
Department of Ophthalmology, Kagoshima University Faculty of Medicine, Japan.
Ohba
N
N
Nakamura
A
A
Izumo
S
S
Osame
M
M
D000015:Abnormalities, Multiple / Q000150:complications*; D002648:Child; D005654:Fundus Oculi; D005684:Gait; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D007499:Iris Diseases / Q000150:complications / Q000473:pathology; D007621:Karyotyping; D008297:Male; D009069:Movement Disorders / Q000150:complications; D009422:Nervous System Diseases / Q000150:complications* / Q000473:pathology; D014849:Waardenburg Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology