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

Sheil F,Caird J,Samuel Ndoro,D Murray

doi:10.31487/j.scr.2020.07.06

Abstract

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.

Highlights

osteopathia striata with cranial sclerosis (OSCS) is a rare X-linked dominant inherited skeletal dysplasia caused by truncating mutations or deletions in the X-linked gene WTX (Wilm’s tumor gene on the X chromosome) and is characterized by sclerotic striations of the metaphyses of long bones, pelvis and scapula along with craniofacial hyperostosis [1, 2]
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)
Germline inactivation of WTX causes OSCS syndrome, which is associated with macrocephaly, frontal bossing, ocular hypertelorism, broad nasal bridge, cleft palate, hearing loss, and mental retardation

Summary

Introduction

OSCS is a rare X-linked dominant inherited skeletal dysplasia (prevalence 0.1/1 million people) caused by truncating mutations or deletions in the X-linked gene WTX (Wilm’s tumor gene on the X chromosome) and is characterized by sclerotic striations of the metaphyses of long bones, pelvis and scapula along with craniofacial hyperostosis [1, 2]. (Interestingly the brother has a mutation in COL 4A1 [de novo mutation] on Chromosome 7; there is no relationship in the genetic conditions between the two siblings) She was diagnosed at 2 months of age with osteopathia striata with cranial sclerosis due to a mutation in the WTX gene (X linked dominant, parental gonadal mosaicism), which almost exclusively affects girls. She exhibited from birth, low set ears, frontal bossing, and an unusually shaped skull. Insertion of gastrostomy was performed at 10 months of age, and the PEG was reversed 1 year later She presented to our institution at 3 years of age, with frontal bossing, supraorbital rim flaring, mild hypertelorism, bilateral conductive hearing loss, and developmental delay. Empiric antibiotic therapy and was later discharged home after a course of antibiotic therapy

Discussion and Literature

Conclusion