Fabry’s Disease (FD) is a rare X-linked inherited disorder of glycosphingolipid metabolism due to absent or deficient activity of α-galactosidase A (GLA) enzyme that can present with multisystemic involvement, including painful small fiber neuropathy. Dysferlinopathy is a heterogeneous spectrum of neuromuscular disorders inherited in an autosomal recessive manner. In this report, we present a case of co-occurrence of these two rare genetic disorders

Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by reduced or absent activity of the enzyme α-galactosidase A. Due to systemic accumulation of glycolipids, FD phenotype is diverse, and diagnosis may be challenging. Clinical manifestations include small fiber neuropathy, renal dysfunction, cardiac involvement, cerebrovascular disease, among others. In the present study, we describe biopsy proven small fiber neuropathy and subclinical cardiac involvement in two cousins diagnosed with FD secondary to a recently described pathogenic variant, highlighting the importance of diagnostic tools to document organ damage and allow early treatment.

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Diabetic amyotrophy is a rare condition in diabetic patients, usually associated with important weight loss. In the present case, we show a rare presentation of diabetic amyotrophy phenotype in the context of treatment induced neuropathy of diabetes neuropathy (TIND) after a strict glycemic control in a patient with long-standing poor controlled diabetes and without related weight loss. Even though it’s an uncommon presentation, because of diabetes high prevalence worldwide the knowledge of its complications is important to the adequate treatment and follow-up to improve patients’ quality of life.