Cerebral gigantism (Sotos syndrome) with juvenile macular degeneration.
A 6-year-old girl had an excessively rapid longitudinal growth of early onset (height age of 9 years), moderate obesity, large hands and feet, a large dolichocephalic head and facial features as described in Sotos syndrome or cerebral gigantism. In addition, she exhibited mental dullness, hypotonia and clumsiness. CT scanning of the head demonstrated major ventricular anomalies and absence of corpus callosum. Fundoscopy and electroretinography revealed an early stage of atrophic macular degeneration (AMD) with cone dysfunction, bilaterally. Wether this association of cerebral gigantism and AMD is fortuitous or not is unknown.
D001927:Brain Diseases / Q000150:complications*; D002648:Child; D005260:Female; D005877:Gigantism / Q000150:complications*; D006801:Humans; D008268:Macular Degeneration / Q000150:complications*; D013577:Syndrome