Lafora disease with novel autopsy findings: a case report with endocrine involvement and literature review.

Background: Lafora disease is a rare, autosomal recessive, progressive myoclonic epilepsy with onset typically in the second decade of life and uniformly fatal outcome. Most of the current literature focuses on diagnosis, genetic basis, neurological signs, and possible treatment of this currently incurable disease. On literature review of over 50 articles including over 300 patients, there were no comments on or pathologic description of endocrinologic issues in relation to Lafora disease.

Patient Description: We describe a patient with Lafora disease with severe neurological deterioration. During hospitalization for urosepsis, he exhibited thyrotoxicosis with a free thyroxine (T4) level greater than 7.77 ng/dL. On autopsy, he had lymphocytic thyroiditis and Lafora bodies throughout his organs including the anterior pituitary, hypothalamus, and pancreas.

Conclusions: This is the first report of the pathologic findings of Lafora bodies in endocrine organs. Although this patient's thyrotoxic state was likely not a direct result of his Lafora disease, given the diffuse deposition of Lafora bodies, endocrinologic abnormalities should be considered in patients with Lafora disease. Furthermore, acute decompensation in these individuals may arise not from a declining neurological status but from a coincidental disease process.