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.
Department of Ophthalmology, Kagoshima University Faculty of Medicine, Japan.
E
E
Kawabata
N
N
Ohba
A
A
Nakamura
S
S
Izumo
M
M
Osame
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