HSD10 disease in a female: A case report and review of literature.

HSD10 disease is a rare X-linked mitochondrial disorder caused by pathogenic variants in the gene. The phenotype results from impaired 17β-hydroxysteroid dehydrogenase 10 (17β-HSD10) protein structure and function. HSD10 is a multifunctional protein involved in enzymatic degradation of isoleucine and branched-chain fatty acids, the metabolism of sex hormones and neurosteroids, as well as in regulating mitochondrial RNA maturation.

Lambert-eaton myasthenic syndrome.

Lambert Eaton myasthenic syndrome (LEMS) is a rare neuromuscular junction disease. Often, the signs and symptoms of LEMS are mistaken for myasthenia gravis and therefore the workup is misdirected. A physician must look for an occult malignancy when the diagnosis is made and then continue to search for a malignancy for at least 5 years after diagnosis.