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

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.