Objective: To present a unique case of genetically confirmed hereditary hemochromatosis (HH) presented with chronic myelopathy clinically indistinguishable from hereditary spastic paraplegia (HSP).

A 33-year-old female presented with longstanding history of progressive paresthesia of distal extremities and weakness of legs and hands since early childhood with family history of similar symptoms. Physical examination was remarkable for weakness of hands, lower limb spasticity, hyperreflexia and equinovarus deformity. MRI images without contrast of neuroaxis was unrevealing. Diagnostic work up for myelopathy including vitamins A, D, B1, B2, B3, B6, B12, methylmalonic acid, thyroid studies, serum immunofixation, CK, aldolase, GAD-65 antibodies, plasma acylcarnitine profile and zinc were within normal ranges.

Methods: Patient chart review, Pub-Med literature review.

Whole exome sequencing was positive for homozygous HFE c.187 C>G p(H83D) pathogenic autosomal recessive variant with elevated ferritin levels confirming diagnosis of HH.

HH is due to pathogenic genetic mutations of HFE on chromosome 6, causing an iron overload state resulting in the more commonly known complications of cirrhosis and diabetes. Neurological complications have been rarely described, among which myelopathy is even more rare. Progressive spastic paraparesis or chronic myelopathy associated with hemochromatosis has been described but only in association with co-existing copper deficiency or extramedullary hematopoiesis causing compressive myelopathy. We present a case of HH-associated spastic paraparesis clinically indistinguishable from HSP.