Sturge Weber Syndrome (SWS): A case report in an infant

  • Erum Afzal The children hospital and the institute of child health, MULTAN
  • Asia Noureen Rawalpindi Medical University
  • Muhammad Khalid Iqbal THE CHILDREN HOSPITAL AND THE INSTITUTE OF CHILD HEALTH MULTAN
  • Kausar Aftab THE CHILDREN HOSPITAL AND THE INSTITUTE OF CHILD HEALTH MULTAN
  • Asad Rehman THE CHILDREN HOSPITAL AND THE INSTITUTE OF CHILD HEALTH MULTAN
  • Rubeena Muien THE CHILDREN HOSPITAL AND THE INSTITUTE OF CHILD HEALTH MULTAN
Keywords: Sturge Weber Syndrome (SWS), Port Wine Stain (PWS), Nevi flammeus, Neurocutaneous Syndromes, Phakomatosis, Angiomatosis.

Abstract

Introduction: Sturge Weber Syndrome (SWS), known as encephalotrigeminal angiomatosis, is a rare neurocutaneous disorder and is having a prevalence of 1/20-50,000, live births. The syndrome consists of leptomeningeal angiomas and the angiomas of the face, characteristically in the ophthalmic and maxillary divisions of the trigeminal nerve. The neurological presentations include fits, deficits in cognition, glaucoma, and visual field abnormalities. The overgrowth of the soft tissues and extracranial angiomas can also occur in SWS.

Case presentation: We are presenting a rare case of Sturge Weber Syndrome in an infant who presented at an early stage of this disorder. The index case presented to us with a large port-wine stain and right-sided focal fits. The CT scan brain showed subtle gyriform tram-track calcification of the left cerebral cortex and the left-sided cerebral atrophy. Ophthalmological examination showed glaucoma of the left eye. The clinical and radiological criteria were used to make the final diagnosis of SWS.

Conclusion: The case is being reported in order to increase awareness among medical professionals.

Author Biographies

Erum Afzal, The children hospital and the institute of child health, MULTAN

ASSISTANT PROFESSOR

Muhammad Khalid Iqbal, THE CHILDREN HOSPITAL AND THE INSTITUTE OF CHILD HEALTH MULTAN

SENIOR REGISTRAR

Kausar Aftab, THE CHILDREN HOSPITAL AND THE INSTITUTE OF CHILD HEALTH MULTAN

MEDICAL OFFICER PAEDIATRICS

Asad Rehman, THE CHILDREN HOSPITAL AND THE INSTITUTE OF CHILD HEALTH MULTAN

POST GRADUATE RESIDENT PAEDIATRICS

Rubeena Muien, THE CHILDREN HOSPITAL AND THE INSTITUTE OF CHILD HEALTH MULTAN

MEDICAL OFFICER PAEDIATRICS

References

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Published
2021-09-30
How to Cite
1.
Afzal E, Noureen A, Iqbal M, Aftab K, Rehman A, Muien R. Sturge Weber Syndrome (SWS): A case report in an infant. JRMC [Internet]. 30Sep.2021 [cited 27Oct.2021];25(3):434-8. Available from: https://journalrmc.com/index.php/JRMC/article/view/1548
Section
Case Reports