Intracranial hemorrhage in a patient with Urbach-Wiethe disease

A 39-year-old man with UrbachWiethe disease presented with headache, left hemiparesis, and apathy. He also had epilepsy, hoarseness, tongue frenulum thickening, and yellow papular lesions around his eyelids and fingers. A computed tomography (CT) scan revealed right frontal lobe hemorrhage with comma-shaped calcifications in both amygdalae. This is a characteristic finding of UrbachWiethe disease. The patient had previously experienced an intracranial pyogenic abscess, possibly related to hyaline deposits found along the parotid duct. Whole exome sequencing showed a biallelic pathogenic variant in the ECM1 gene. UrbachWiethe disease is an autosomal recessive disorder characterized by hyalinelike material deposition in the skin, mucosae, and viscera. It presents with seizures, neuropsychiatric manifestations, intracranial hemorrhages, and calcifications in the mesial temporal lobes. This case highlights the neurological complications associated with UrbachWiethe disease.