Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination

Koichi Aizaki; Kenji Sugai; Yoshiaki Saito; Eiji Nakagawa; Masayuki Sasaki; Yoko Aoki; Yoichi Matsubara

doi:10.1016/j.braindev.2010.03.008

Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination

Koichi Aizaki, Kenji Sugai, Yoshiaki Saito, Eiji Nakagawa, Masayuki Sasaki, Yoko Aoki, Yoichi Matsubara

MED - Public Health

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

16 Citations (Scopus)

Abstract

A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) experienced repetitive epileptic spasms at the corrected age of 4 months. Electroencephalograms revealed hypsarrhythmia, and magnetic resonance imaging identified delayed myelination and a hypoplastic corpus callosum. Various antiepileptic treatments, including adrenocorticotropic hormone therapy, were ineffective, although transient seizure control was achieved by a ketogenic diet and clorazepate dipotassium. However, seizures with epileptic foci at the bilateral posterior temporal areas re-aggravated and remained intractable; severe psychomotor delay persisted. This case indicated that infantile spasms in CFC syndrome can be difficult to control and may be accompanied by severe psychomotor retardation and abnormal myelination.

Original language	English
Pages (from-to)	166-169
Number of pages	4
Journal	Brain and Development
Volume	33
Issue number	2
DOIs	https://doi.org/10.1016/j.braindev.2010.03.008
Publication status	Published - 2011 Feb

Keywords

Abnormal myelination
BRAF
Cardio-facio-cutaneous syndrome
Infantile spasms

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Developmental Neuroscience
Clinical Neurology

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10.1016/j.braindev.2010.03.008

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title = "Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination",

abstract = "A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) experienced repetitive epileptic spasms at the corrected age of 4 months. Electroencephalograms revealed hypsarrhythmia, and magnetic resonance imaging identified delayed myelination and a hypoplastic corpus callosum. Various antiepileptic treatments, including adrenocorticotropic hormone therapy, were ineffective, although transient seizure control was achieved by a ketogenic diet and clorazepate dipotassium. However, seizures with epileptic foci at the bilateral posterior temporal areas re-aggravated and remained intractable; severe psychomotor delay persisted. This case indicated that infantile spasms in CFC syndrome can be difficult to control and may be accompanied by severe psychomotor retardation and abnormal myelination.",

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author = "Koichi Aizaki and Kenji Sugai and Yoshiaki Saito and Eiji Nakagawa and Masayuki Sasaki and Yoko Aoki and Yoichi Matsubara",

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AU - Aizaki, Koichi

AU - Sugai, Kenji

AU - Saito, Yoshiaki

AU - Nakagawa, Eiji

AU - Sasaki, Masayuki

AU - Aoki, Yoko

AU - Matsubara, Yoichi

PY - 2011/2

Y1 - 2011/2

N2 - A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) experienced repetitive epileptic spasms at the corrected age of 4 months. Electroencephalograms revealed hypsarrhythmia, and magnetic resonance imaging identified delayed myelination and a hypoplastic corpus callosum. Various antiepileptic treatments, including adrenocorticotropic hormone therapy, were ineffective, although transient seizure control was achieved by a ketogenic diet and clorazepate dipotassium. However, seizures with epileptic foci at the bilateral posterior temporal areas re-aggravated and remained intractable; severe psychomotor delay persisted. This case indicated that infantile spasms in CFC syndrome can be difficult to control and may be accompanied by severe psychomotor retardation and abnormal myelination.

AB - A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) experienced repetitive epileptic spasms at the corrected age of 4 months. Electroencephalograms revealed hypsarrhythmia, and magnetic resonance imaging identified delayed myelination and a hypoplastic corpus callosum. Various antiepileptic treatments, including adrenocorticotropic hormone therapy, were ineffective, although transient seizure control was achieved by a ketogenic diet and clorazepate dipotassium. However, seizures with epileptic foci at the bilateral posterior temporal areas re-aggravated and remained intractable; severe psychomotor delay persisted. This case indicated that infantile spasms in CFC syndrome can be difficult to control and may be accompanied by severe psychomotor retardation and abnormal myelination.

KW - Abnormal myelination

KW - BRAF

KW - Cardio-facio-cutaneous syndrome

KW - Infantile spasms

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ER -

Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination

Abstract

Keywords

ASJC Scopus subject areas

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