Article Text

Download PDFPDF
Schimmelpenning-Feuerstein-Mims syndrome with benign enlargement of subarachnoid space in infancy
  1. Shadab B Maldar1,
  2. Christopher Jude Pinto2,3,
  3. Uday Kumar4 and
  4. Swathi Pitchiammal Vairaprakasam5
  1. 1Karnataka Institute of Medical Sciences, Hubli, Karnataka, India
  2. 2Department of Family Medicine, Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, Michigan, USA
  3. 3Department of Medicine, Karnataka Institute of Medical Sciences, Hubli, Karnataka, India
  4. 4Department of Paediatric Medicine, Karnataka Institute of Medical Sciences, Hubli, Karnataka, India
  5. 5Department of Dermatology and Venereal Diseases, Karnataka Institute of Medical Sciences, Hubli, Karnataka, India
  1. Correspondence to Dr Christopher Jude Pinto; christopher.pinto{at}wmed.edu

Abstract

Schimmelpenning-Feuerstein-Mims syndrome is a rare disorder generally characterised by a craniofacial nevus with multisystemic presentations. Our patient, an infant, was brought to the emergency department in a postictal state following a first seizure episode. A physical examination showed a solitary dark brown, well-demarcated verrucous plaque extending from the patient’s left temporal region to the left mandible without crossing the midline. Epibulbar choristomas were present on the ipsilateral side of the craniofacial lesion. Neuroimaging showed benign enlargement of the subarachnoid space. Due to the known risk of seizures associated with this condition, the patient was started on levetiracetam and showed adequate compliance. We present this as the first reported case of Schimmelpenning-Feuerstein-Mims syndrome with benign enlargement of the subarachnoid space in an infant presenting with seizures to emphasise the value of collaboration among multidisciplinary professionals to improve the quality of care for such patients.

  • Paediatrics
  • Routine care of the full-time infant
  • Ophthalmology
  • Neuroimaging
  • Epilepsy and seizures

Statistics from Altmetric.com

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.

Footnotes

  • Twitter @corizot

  • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms and critical revision for important intellectual content: SBM, CJP, UK and SPV. The following authors gave final approval of the manuscript: SBM, CJP, UK and SPV. Is the patient one of the authors of this manuscript? No.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

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