WHATʹS YOUR DIAGNOSIS? A Young Adult with Myoclonic Seizure

A 21-year-old man was referred to dermatology clinic for skin biopsy. He presented to neurology center with behavioral changes with cognition and memory disorders. He had two episodes of genealized tonic clonic seizure and series of myoclonc jerks in his limbs and face especially after awakening since several months ago. In neurological examination, he had mini mental score as 13; with some degree of bradykinesia, limb rigidity and dysartheria. He had leaved school because of inability to learning. His sister had died 5 months ago from the same disease. We performed biopsy from his right axillary skin. Histopathological examination revealed multiple intracytoplasmic homogenous pale basophilic globi in apocrine glands acini which were showing PAS positive reactivity in special staining. Reminder of epidermis and mid reticular dermis was unremarkable (Figures 1 and 2).