Background: NBIA (neurodegeneration with brain iron accumulation) is a diverse collection of neurodegenerative illnesses defined by iron accumulation in the basal ganglia. The fatty acid hydroxylase-associated neurodegeneration, or FAHN, is one of the uncommon subtypes of NBIAs, associated with inherited autosomal recessive mutations in gene coding the membrane-bound fatty acid 2 hydroxylase (FA2H) enzyme.
Cases: Here, we report two cases with FAHN from two unrelated families from Iran confirmed by whole exome sequencing.
Conclusion: FAHN is an uncommon variant of NBIA that may manifest as spastic paraparesis without signs of iron buildup on brain imaging. As a result, it should be taken into account while making a differential diagnosis of the hereditary spastic paraplegia (HSP) syndrome, especially in individuals who lack iron deposits.
Keywords: FAHN; Fatty acid hydroxylase-associated neurodegeneration; NBIA; Neurodegeneration with brain iron accumulation.
© 2023. Fondazione Società Italiana di Neurologia.