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October to December 2018 | Vol. 11 | Issue 4 | 06-09
Fatty Acid Hydroxylase-Associated Neurodegeneration-A Rare Case of Neurodegeneration with Brain Iron Accumulation NBIA
Vibha Jain1, Sunita Bijarnia-Mahay1, Ramprasad VL2, Renu Saxena1, Verma IC1
1Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi 2Medgenome Labs Private Limited, Bengaluru
Address for Correspondence Email: bijarnia@gmail.com
Fatty acid hydroxylase associated neurodegeneration is a rare disorder which belongs to the group of disorders of neurodegeneration with brain iron accumulation (NBIA). We present a case of a 9-year-old girl who presented with gradually progressive stiffness of limbs with speech delay and neuroimaging findings of T2 hypointensities in the globus pallidus and substantia nigra suggestive of brain iron accumulation. Targeted exome sequencing by next generation sequencing (NGS) revealed a novel homozygous splice site likely pathogenic variant in intron 6 of the FA2H at position c.1039+2T>G, confirming the diagnosis of Fatty acid hydroxylase-associated neurodegeneration (FAHN), a subtype of NBIA. FAHN has never been reported from the Indian subcontinent before. This report further emphasizes the use of good clinical evaluation and NGS in diagnosing rare disorders which otherwise are difficult to recognise.
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