BPAN manifesting with febrile seizures and language delay: a case report from Brazil
Clin. biomed. res
; 41(1): 91-93, 2021. ilus
Article
ي En
| LILACS
| ID: biblio-1254916
المكتبة المسؤولة:
BR18.1
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)
Key words
النص الكامل:
1
الفهرس:
LILACS
الموضوع الرئيسي:
Neuroaxonal Dystrophies
/
Iron Metabolism Disorders
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Seizures, Febrile
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Language Development Disorders
نوع الدراسة:
Prognostic_studies
المحددات:
Child, preschool
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Female
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Humans
البلد/الأقليم حسب الموضوع:
America do sul
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Brasil
اللغة:
En
مجلة:
Clin. biomed. res
/
Clinical and biomedical research
موضوع المجلة:
MEDICINA
السنة:
2021
نوع:
Article