Severe Cerebral Calcification in a Case of LEOPARD Syndrome

• Published in: Internal Medicine Vol. 47; no. 21; pp. 1925 - 1929
• Main Authors: Niwa, Atsushi, Naito, Yutaka, Kuzuhara, Shigeki
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Society of Internal Medicine 01-01-2008
• Subjects: Arrhythmia; Basal ganglia; Brain; Brain Diseases - complications; Brain Diseases - diagnosis; Calcification (ectopic); Calcinosis - complications; Calcinosis - diagnosis; Cerebellum; Computed tomography; Fahr's syndrome; gonadal hypoplasia; Humans; Hypoplasia; LEOPARD syndrome; LEOPARD Syndrome - complications; LEOPARD Syndrome - diagnosis; Male; Mental retardation; Middle Aged; neural crest; pericyte; severe brain calcification; Substantia alba; Thalamus
• ISSN: 0918-2918; 1349-7235; 1349-7235
• DOI: 10.2169/internalmedicine.47.1365

We report severe brain calcification in a case of LEOPARD syndrome that has not been reported in the literature. A 53-year-old Japanese man presented with generalized lentigines, arrhythmia, gonadal hypoplasia, endocrine abnormality, mental retardation and skeletal abnormalities, and was consequently diagnosed as LEOPARD syndrome. Brain computed tomography demonstrated surprisingly dense and symmetric calcifications in the cerebellar dentate nuclei, cerebral basal ganglia, thalamus, and cerebral white matter. It may be an incidental idiopathic calcification. Alternatively it may be a rare clinical manifestation of LEOPARD syndrome.