Abstract
Tuberous sclerosis complex is an autosomal dominant disorder affecting primarily the central nervous system, skin, and kidney caused by mutations in the TSC1 and TSC2 genes. Diagnosis is established with the identification of various neurocutaneous symptoms and multiple organ system hamartomas. The authors report on a 9-year-old patient with episodes of vertigo and headache followed by full spontaneous recovery. There was no history of seizures, mental retardation, or other neurologic sequelae, and psychomotor development was normal. Magnetic resonance imaging revealed pial angiomatosis of the left cerebellum and calcifications in the left parieto-occipital lobe consistent with the diagnosis of Sturge-Weber syndrome. At the age of 13, multiple renal angiomyolipomas and a single hypomelanotic macule were found, and subsequent imaging revealed several cortical tuberi. The diagnosis was confirmed by sequence analysis, which identified a novel missense mutation p.Ala460Thr in exon 13 of the TSC2 gene. Thus, mild tuberous sclerosis due to a hypomorphic mutation in TSC2 may present with isolated leptomeningeal angiomatosis.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.