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Título

NEURODEGENERATION WITH CEREBRAL IRON 5 ACCUMULATION ASSOCIATED WITH BPAN BETA-HELIX PROTEIN: A CASE REPORT

Apresentação do caso

Case presentation: K.D.S.P, male, 3 years old. The mother reports from the age of 6 months, the child began with seizures characterized as generalized tonic-clonic, with ocular eversion, lasting less than five minutes, at a frequency of 2 seizures/day. Associated to this, he presents with delayed neuropsychomotor development. Physical examination: the patient did not present cervical control and was unresponsive to stimulation, non-contactful. reflexes grade 3, with symmetrical appendicular hyperreflexia. Due to the clinical story, he was sent to the child neurology service, where a computed tomography of the skull and an electroencephalogram were done, which showed encephalic volumetric reduction, enlarging sulcus of the frontal convexity, bilateral parietal and anterior portions of the lateral ventricles and evidencing disorganization of the brain electrical activity, with presence of irritative activity in the left central parietal region, respectively. In addition, a genetic panel for Epilepsy was performed, which identified Neurodegeneration with brain iron accumulation 5 (NBIA5), associated with beta-helix protein (BPAN), with the mutation caused to the WDR45 domain located in Xp11.23 of the X chromosome.

Discussão

Discussion: NBIA5 is a disease that courses with accumulation of this substance mainly in the basal ganglia and substantia nigra, which can be seen on MRI. NBIA has overlapping phenotypes and is subdivided according to the associated genes. This genetic disease has a prevalence of 1:500,000 live births, and the most common phenotype is pantothenate kinase-associated neurodegeneration (PKAN), present in 50% of cases. The case subject has an early phenotype of BPAN, the only NBIA linked to X mutation, which includes neurodevelopmental delay, intellectual deficit, epilepsy, and sleep problems. In addition, patients can develop movement disorders such as parkinsonism and dystonia.

Comentários finais

Final comments: Although there is no specific treatment, the diagnosis of NBIA is important for genetic counseling and symptomatic treatment. In the patient's case, with antiepileptic drugs and therapies such as physiotherapy and speech therapy. Furthermore, it is important to consider NBIA as a possible differential diagnosis, since the symptomatology can be confused with epileptic encephalopathy and/or atypical Rett syndrome.

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Área

Neurogenética