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J Child Neurol. 2015 Jul;30(8):1070-4. doi: 10.1177/0883073814542947. Epub 2014 Aug 12.

Sturge Weber-Like Gyral Calcification Seen in Tuberous Sclerosis Complex 1.

Author information

  • 1Department of Pediatrics, Lady Hardinge Medical College and associated Kalawati Saran Children's Hospital, New Delhi, India sayanchat_82@yahoo.co.in.
  • 2Department of Pediatrics, Lady Hardinge Medical College and associated Kalawati Saran Children's Hospital, New Delhi, India.
  • 3Department of Dermatology, Lady Hardinge Medical College and associated Kalawati Saran Children's Hospital and Sucheta Kriplani Hospital, New Delhi, India.

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.

KEYWORDS:

Sturge Weber syndrome; double phakomatosis; tuberous sclerosis

PMID:
25117416
DOI:
10.1177/0883073814542947
[PubMed - indexed for MEDLINE]
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