Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation.
A 1-year-old male began suffering from West syndrome at 3 months of age, when electroencephalography revealed hypsarrhythmia accompanied by a periodic, brief suppression phase. The administration of adrenocorticotropic hormone was partially effective for stopping the condition, and the seizure type evolved into brief tonic seizures at 6 months. Thereafter, progressive atrophy of the brain became evident by 9 months of age, predominantly at the brainstem and cerebellum. Severe hypomyelination of the cerebral white matter was revealed at the age of 1 year, and a de novo heterozygous mutation in the SPTAN1 gene was confirmed. The patient showed severely impaired psychomotor development, and had gained no visual attention. These findings contribute to the characterization of this recently established entity and facilitate the identification of further patients.
Department of Pediatrics, School of Medicine, Kitasato University Hospital, Sagamihara, Japan. nnd@med.kitasato-u.ac.jp
Yutaka
Y
Nonoda
Yoshiaki
Y
Saito
Shigehiro
S
Nagai
Masayuki
M
Sasaki
Toshiyuki
T
Iwasaki
Naomichi
N
Matsumoto
Masahiro
M
Ishii
Hirotomo
H
Saitsu
D000324:Adrenocorticotropic Hormone / Q000009:adverse effects / Q000627:therapeutic use; D001034:Apgar Score; D001284:Atrophy; D001921:Brain / Q000473:pathology*; D002352:Carrier Proteins / Q000235:genetics*; D002531:Cerebellum / Q000473:pathology; D004569:Electroencephalography; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology; D005074:Evoked Potentials, Visual / Q000502:physiology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D059906:Neuroimaging; D012640:Seizures / Q000209:etiology; D013036:Spasms, Infantile / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D014057:Tomography, X-Ray Computed; D013049:Spectrin
D000324:Adrenocorticotropic Hormone; D002352:Carrier Proteins; D008840:Microfilament Proteins; D013049:Spectrin