Congenital nystagmus, anisomyopia, and hemimegalencephaly in the Klippel-Trenaunay-Weber syndrome.
Klippel-Trenaunay-Weber syndrome is a rare phacomatosis of uncertain aetiology, variable expression, and disputed pathogenesis, whose cardinal signs are cutaneous angiomas, varicosities, tissue hypertrophy, and arteriovenous fistulae. The case reported herein is the first description of an unusual variant with limb and facial hemihypertrophy, congenital nystagmus, progressive ipsilateral anisomyopia, and strabismus. We review the ophthalmic findings and report the co-occurrence of hemimegalencephaly with congenital nystagmus and ipsilateral axial anisomyopia.
Burke
J P
JP
Department of Ophthalmology, Royal Hallamshire Hospital, Sheffield, England.
West
N F
NF
Strachan
I M
IM
D000015:Abnormalities, Multiple; D015858:Anisometropia / Q000150:complications*; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007715:Klippel-Trenaunay-Weber Syndrome / Q000150:complications*; D009759:Nystagmus, Pathologic / Q000151:congenital*; D013285:Strabismus / Q000150:complications; D014057:Tomography, X-Ray Computed