TY - JOUR
AR - SCR-2020-7-106
TI - Osteopathia Striata with Cranial Sclerosis Associated with Moyamoya Disease in a 3-Year-Old Girl
AU - Samuel , Ndoro
AU - Sheil , F
AU - D. , Murray
AU - Caird , J
JO - Surgical Case Reports
PY - 2020
DA - Fri 31, Jul 2020
SN - 2613-5965
DO - http://dx.doi.org/10.31487/j.SCR.2020.07.06
UR - https://www.sciencerepository.org/osteopathia-striata-with-cranial-sclerosis-associated-with-moyamoya-disease_SCR-2020-7-106 
KW - Osteopathia striata with cranial sclerosis, moyamoya disease, WTX gene, Pierre Robin sequence
AB - 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.