BPAN manifesting with febrile seizures and language delay: a case report from Brazil
Clin. biomed. res
;
41(1): 91-93, 2021. ilus
Artigo
em Inglês
| LILACS
| ID: biblio-1254916
ABSTRACT
Neurodegeneration with brain iron accumulation (NBIA) is a complex group of hereditary progressive neurodegenerative diseases characterized by deposition of iron in the basal ganglia. Twelve genetic forms of this disorder have been identified in previous studies. Though they have different inheritance mechanisms all are usually associated with abnormal brain MRI findings. One of NBIA types is an X-linked disorder known as Beta-propeller Protein Associated Neurodegeneration (BPAN). Herein we describe the case of a 4-year-old girl with 2 episodes of febrile seizures, a brain MRI showing nonspecific hyperintense signal in the dentate nucleus area, and delays in language and communication development. Her diagnosis was made based on a genetic evaluation where exome sequencing revealed a mutation in the position chrX48.933.022 region of the WDR45 gene. The literature describes different clinical presentations for BPAN, each with a different prognosis, suggesting a wide range of possible symptoms of BPAN, including mild cognitive delay and even epileptic encephalopathy (EE). (AU)
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Distrofias Neuroaxonais
/
Distúrbios do Metabolismo do Ferro
/
Convulsões Febris
/
Transtornos do Desenvolvimento da Linguagem
Tipo de estudo:
Estudo prognóstico
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
País/Região como assunto:
América do Sul
/
Brasil
Idioma:
Inglês
Revista:
Clin. biomed. res
Assunto da revista:
Medicina
Ano de publicação:
2021
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Centro Universitário Estácio de Ribeirão Preto/BR
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