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Abstract

Background: Fahr syndrome, a rare condition with a prevalence of less than 1 in 1,000,000, is an inherited neurological disorder characterized by abnormal calcium deposits in brain regions governing motor function. While it predominantly afflicts adult people it can also manifest in children, who may exhibit neurodevelopmental issues, including microcephaly, neonatal seizures, cerebral atrophy, encephalopathy, and typically bilateral cerebral calcifications in the basal ganglia. Brain CT scan is the most sensitive modality in localizing and assessing the extent of calcium deposits. The prognosis is highly variable and unpredictable. Report: We present the case of a 5-year-old girl who presented with recurrent seizures, fever, and cough. She had suffered from frequent seizures since the age of 8 months and was diagnosed with epilepsy at 1 year of age. The patient was malnourished, and blood tests indicated decreased calcium levels. A CT scan of the head revealed multiple bilateral calcifications in the basal ganglia and cerebellar hemisphere, along with cerebral atrophy, indicative of Fahr Syndrome. Conclusion: Clinical presentation, including microcephaly, seizures, cerebral atrophy, hypotonia, and tremors, alongside radiological findings, strongly suggest Fahr syndrome. Symptomatic treatment includes oral anticonvulsants (valproic acid and levetiracetam) to mitigate seizures have shown gradual improvement.

Keywords

Children, Fahr syndrome, Neurodevelopment.

Article Details

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