Osteopathia Striata with Cranial Sclerosis Associated with Moyamoya Disease in a 3-Year-Old Girl

Author Info

Samuel Ndoro Sheil F D. Murray Caird J

Corresponding Author

Samuel Ndoro
Department of Neurosurgery, Temple St. Children’s University Hospital, Dublin, Ireland

A B S T R A C T

We present a very rare case of osteopathia striata with cranial sclerosis (OSCS) due to a mutation in the WTX gene, with an unusual association with moyamoya disease (MMD). This is the first documented case to our knowledge where OSCS and MMD have occurred in conjunction. A 3-year-old girl presented with osteopathia striata with cranial sclerosis with a history of Pierre Robin syndrome. She had previously had cleft palate repair and was now electively admitted for an anterior 2/3rds cranial vault remodeling procedure for osteopathia striata. Postoperatively she developed left-sided focal seizures and left-sided weakness. Subsequent imaging revealed acute right frontal and medial right parietal infarcts and bilateral supraclinoid ICA occlusion, consistent with moyamoya disease. Early diagnosis and intervention will alter the prognosis and life expectancy of patients with OSCS and MMD. MMD should be a differential diagnosis following the sudden onset of neurological deficits and focal seizures postoperatively in the pediatric population. In cases where associated comorbidities are high risk, a conservative approach to the treatment of MMD may be indicated.

Article Info

Article Type

Case Report and Review of the Literature

Publication history

Received: Mon 15, Jun 2020
Accepted: Sat 04, Jul 2020
Published: Fri 31, Jul 2020

Copyright

© 2023 Samuel Ndoro. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Hosting by Science Repository.
DOI: 10.31487/j.SCR.2020.07.06