A case of cutis verticis gyrata‐mental retardation syndrome accompanied by various neurological abnormalities. Issue 6 (20th September 2021)

• Record Type: Journal Article
• Authors: Ogawa, Katsuhiko; Akimoto, Takayoshi; Hara, Makoto; Fujishiro, Midori; Nakajima, Hideto
• Is Part Of: Neurology and clinical neuroscience. Volume 9:Issue 6(2021)
• Page Start: 487
• Page End: 489
• Publication Date: 2021-09-20
• Subjects: cutis verticis gyrata -- deaf‐mutism -- mental retardation -- optic nerve atrophy -- spastic paraplegia; Neurology -- Periodicals; Neurosciences -- Periodicals; 616.8
• DOI: 10.1111/ncn3.12549
• Languages: English
• ISSNs: 2049-4173

Abstract

Abstract: We report a 44‐year‐old male with cutis verticis gyrate (CVG)‐mental retardation syndrome. His backhead skin formed several folds, which were diagnosed as CVG. Neurological examinations revealed bilateral marked visual acuity loss, deaf‐mutism, mild mental retardation, bilateral Babinski's sign, severe spastic paraplegia, and cerebellar ataxia. Brain magnetic resonance imaging showed atrophy of the cerebellum and the corpus callosum. The fundus showed bilateral optic nerve atrophy. The clinical features had the primary non‐essential form in the CVG classification. Our patient was important because of the low frequency of this form in mental retardation.