Apr 11, 2017 - Chorea and athetosis have been reported well. Cognitive impairment, seizures, speech disorder, and cerebellar symptoms are less common ...
BAOJ Pediatrics Gopen Kumar Kundu, et al, BAOJ Pediat 2017 3: 2 3: 036
A Child with Fahr’s Disease Gopen Kumar Kundu1*, Shima Bhadra1 and Sanjida Ahmed1 Paediatric Neurology, Bangabandhu Sheikh Mujib Medical University, Bangladesh
Abstract Fahr‘s disease is also known as idiopathic Basal ganglia calcification is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of brain that control movement. Here we report a 5 years old girl with Fahr’s disease presented with developmental delay and seizure.
Introduction Fahr‘s disease is a rare degenerative neurological disorder characterized by the presence of abnormal deposits of calcium in areas of the brain that control movement. About 40% of patients with basal ganglia calcification present initially with psychiatric features including cognitive, psychotic, and mode disorders . Fahr‘s disease was first noted by German neurologist Karl Theodor Fahr in 1930.The pathogenesis is not known, but may be secondary to impairment of the blood brain barrier or to a neuronal calcium phosphorus metabolism disorder . Fahr’s disease is a genetically dominant, inherited and progressive neurological disorder, which is sporadic and has a genetic locus on chromosome14q48 . The onset is frequently seen in the fourth and sixth decades of life, occasional cases have been reported in children .
Case Report A 5 years old immunized girl of non-consanguineous parents presented with developmental delay and recurrent attack of seizure. Seizure was generalized tonic clonic in nature, occurred several times in a day and lasted for 2-3 minutes. There was no history of associated fever. She had history of developmental delay, her neck control achieved at 5 months of age, sitting at 10 months, standing at 18 months and walking at 2 years. She also had slurring of speech. She had no history of such type of illness in her family. She was delivered at term by normal vaginal delivery without any complication with average birth weight. General examination revealed vacant look with dysmorphic facies in the form of triangular face and deformed ear. Anthropometrically her weight was 11 kg(