Article Text

Download PDFPDF
CASE REPORT
Bilateral intracranial calcifications with bilateral facial cutaneous naevus: Sturge Weber syndrome
  1. Muhammad Arif Saeed1,
  2. Kiran Hilal1,
  3. Prem Chand2
  1. 1Department of Radiology, Aga Khan University, Karachi, Pakistan
  2. 2Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan
  1. Correspondence to Dr Muhammad Arif Saeed, arifsaeed10{at}hotmail.com, noman_452{at}hotmail.com

Summary

Sturge Weber syndrome also known as mother spot disease belongs to a group of disorders called phakomatoses (neurocutaneous syndromes involving the central nervous and cutaneous systems). It is a congenital disorder of the vasculature of the meninges, brain, face and eyes. Clinically, it usually presents with seizures and other neurological complications, including mental retardation, contralateral hemiparesis and glaucoma. Its incidence is estimated at one case in 20 000–50 000 persons with equal frequency in boys and girls. We present a case of 18-months-old boy was brought by parents with history of seizures since birth resulting in fall 1 day back. Physical examination showed bilateral port-wine stain on face. CT head examination revealed bilateral intracranial calcification. This is a highly unusual presentation of Sturge Weber syndrome.

  • neurology
  • paediatrics
  • radiology
  • paediatrics (drugs and medicines)

Statistics from Altmetric.com

Footnotes

  • Contributors MAS obtained informed consent from the family and drafted the initial manuscript. KH reported CT and MRI scans of the patient and revised initial manuscript. PC carried out physical examination and clinical management of the patient.

  • Competing interests None declared.

  • Patient consent Guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.