title: Sturge Weber-Like Gyral Calcification Seen in Tuberous Sclerosis Complex 1.
abstract: A 10-year-old girl presented with poorly controlled epilepsy. On evaluation, she had microcephaly, neuro-cutaneous stigmata of tuberous sclerosis complex, profound mental retardation, and spastic hemiparesis. Computed tomography (CT) revealed a calcified subependymal nodule and extensive left gyral calcification of the temporal, parietal, and occipital regions with unilateral cerebral atrophy, radiologic features usually seen in Sturge Weber syndrome. Magnetic resonance imaging (MRI) revealed absence of tubers, enlarged choroid plexus, or leptomeningeal angiomas, thus excluding type 3 Sturge Weber syndrome. The genotype was a heterozygous mutation in exon 18 of the tuberous sclerosis type 1 gene (c.2293C>T p.Q765X). A comparison of previously reported 7 cases of Sturge Weber syndrome and tuberous sclerosis complex was made. This revealed 4 actual double phakomatoses (clinical, radiologic, or genetic phenotypes) and 3 cases with clinical phenotype of tuberous sclerosis and gyral calcifications within tubers simulating the radiologic picture of Sturge Weber syndrome.
authors.affiliation: Department of Pediatrics, Lady Hardinge Medical College and associated Kalawati Saran Children's Hospital, New Delhi, India sayanchat_82@yahoo.co.in.
authors.forename: Sayan
authors.initials: S
authors.lastname: Chatterjee
authors.affiliation: Department of Pediatrics, Lady Hardinge Medical College and associated Kalawati Saran Children's Hospital, New Delhi, India.
authors.forename: Sharmila Banerjee
authors.initials: SB
authors.lastname: Mukherjee
authors.affiliation: Department of Dermatology, Lady Hardinge Medical College and associated Kalawati Saran Children's Hospital and Sucheta Kriplani Hospital, New Delhi, India.
authors.forename: Vibhu
authors.initials: V
authors.lastname: Mendiratta
authors.affiliation: Department of Pediatrics, Lady Hardinge Medical College and associated Kalawati Saran Children's Hospital, New Delhi, India.
authors.forename: Satinder
authors.initials: S
authors.lastname: Aneja
mesh_terms: D002114:Calcinosis / Q000209:etiology*; D002648:Child; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D013341:Sturge-Weber Syndrome / Q000209:etiology*; D014057:Tomography, X-Ray Computed; D014402:Tuberous Sclerosis / Q000150:complications*
keywords: Sturge Weber syndrome; double phakomatosis; tuberous sclerosis