A case of cutis verticis gyrata-mental retardation syndrome accompanied by various neurological abnormalities

Katsuhiko Ogawa; Takayoshi Akimoto; Makoto Hara; Midori Fujishiro; Hideto Nakajima

doi:10.1111/ncn3.12549

A case of cutis verticis gyrata-mental retardation syndrome accompanied by various neurological abnormalities

Katsuhiko Ogawa, Takayoshi Akimoto, Makoto Hara, Midori Fujishiro, Hideto Nakajima

School of Medicine

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	487-489
Number of pages	3
Journal	Neurology and Clinical Neuroscience
Volume	9
Issue number	6
DOIs	https://doi.org/10.1111/ncn3.12549
Publication status	Published - Nov 2021

Keywords

cutis verticis gyrata
deaf-mutism
mental retardation
optic nerve atrophy
spastic paraplegia

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10.1111/ncn3.12549

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title = "A case of cutis verticis gyrata-mental retardation syndrome accompanied by various neurological abnormalities",

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.",

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AU - Fujishiro, Midori

AU - Nakajima, Hideto

PY - 2021/11

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N2 - 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.

AB - 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.

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KW - deaf-mutism

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A case of cutis verticis gyrata-mental retardation syndrome accompanied by various neurological abnormalities

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