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BPAN manifesting with febrile seizures and language delay: a case report from Brazil
Silva, Maria Cecília de Mattos Alves; Rezende, Thayane Rosas Batista; Carneiro, Zumira Aparecida; Lourenço, Charles Marques.
  • Silva, Maria Cecília de Mattos Alves; Centro Universitário Estácio de Ribeirão Preto. Faculdade de Medicina. Ribeirão Preto. BR
  • Rezende, Thayane Rosas Batista; Centro Universitário Estácio de Ribeirão Preto. Faculdade de Medicina. Ribeirão Preto. BR
  • Carneiro, Zumira Aparecida; Centro Universitário Estácio de Ribeirão Preto. Faculdade de Medicina. Ribeirão Preto. BR
  • Lourenço, Charles Marques; Centro Universitário Estácio de Ribeirão Preto. Faculdade de Medicina. Ribeirão Preto. BR
Clin. biomed. res ; 41(1): 91-93, 2021. ilus
Article in English | 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)
Subject(s)


Full text: Available Index: LILACS (Americas) Main subject: Neuroaxonal Dystrophies / Iron Metabolism Disorders / Seizures, Febrile / Language Development Disorders Type of study: Prognostic study Limits: Child, preschool / Female / Humans Country/Region as subject: South America / Brazil Language: English Journal: Clin. biomed. res Journal subject: Medicine Year: 2021 Type: Article Affiliation country: Brazil Institution/Affiliation country: Centro Universitário Estácio de Ribeirão Preto/BR

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Full text: Available Index: LILACS (Americas) Main subject: Neuroaxonal Dystrophies / Iron Metabolism Disorders / Seizures, Febrile / Language Development Disorders Type of study: Prognostic study Limits: Child, preschool / Female / Humans Country/Region as subject: South America / Brazil Language: English Journal: Clin. biomed. res Journal subject: Medicine Year: 2021 Type: Article Affiliation country: Brazil Institution/Affiliation country: Centro Universitário Estácio de Ribeirão Preto/BR