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Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report.
Silva, Sebastián; Rosas, Mónica; Guerra, Benjamín; Muñoz, Marión; Fujita, Atsushi; Sakamoto, Masamune; Matsumoto, Naomichi.
Afiliación
  • Silva S; Child Neurology Service, Hospital de Puerto Montt, Puerto Montt, Chile; Escuela de Medicina, Universidad San Sebastián, Sede Patagonia, Puerto Montt, Chile.
  • Rosas M; Adult Neurology Service, Hospital de Puerto Montt, Puerto Montt, Chile.
  • Guerra B; Escuela de Medicina, Universidad San Sebastián, Sede Patagonia, Puerto Montt, Chile.
  • Muñoz M; Child Neurology Service, Hospital de Puerto Montt, Puerto Montt, Chile.
  • Fujita A; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Sakamoto M; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Matsumoto N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan. Electronic address: naomat@yokohama-cu.ac.jp.
Brain Dev ; 46(7): 250-253, 2024 Aug.
Article en En | MEDLINE | ID: mdl-38641466
ABSTRACT

INTRODUCTION:

CAD (MIM*114010) encodes a large multifunctional protein with the enzymatic activity of the first three enzymes initiating and controlling the de novo pyrimidine biosynthesis pathway. Biallelic pathogenic variants in CAD cause the autosomal recessive developmental and epileptic encephalopathy 50 (MIM #616457) or CAD deficiency presenting with epilepsy, status epilepticus (SE), neurological deterioration and anemia with anisopoikilocytosis. Mortality is around 9% of patients, mainly related to the no use of its specific treatment with uridine. Majority of reported cases have an early onset during infancy, with some few starting later in childhood. CASE REPORT Here we report a deceased female patient with CAD deficiency whose epilepsy started at 14 years. She showed a rapid neurologic deterioration including cognitive decline, electroencephalographic background slowing which later evolved to a fatal refractory SE and supra and infratentorial atrophy on neuroimaging. Anemia developed after SE onset. METHODS AND

RESULTS:

her post-mortem whole exome sequencing identified biallelic missense variants in CAD (NM_004341.5) c.[2944G > A];[5366G > A] p.[(Asp982Asn)];[(Arg1789Gln)]. Our review of twenty-eight reported cases (2015-2023) revealed an epilepsy age onset from neonatal period to 7 years and the SE prevalence of 46 %.

DISCUSSION:

With our case, we highlight the relevance of suspecting this treatable condition in older patients and in SE with no evident etiology.
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Epilepsia Idioma: En Revista: Brain Dev Año: 2024 Tipo del documento: Article

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Epilepsia Idioma: En Revista: Brain Dev Año: 2024 Tipo del documento: Article