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Severe cranial deformity following cerebrospinal fluid diversion in an adolescent with osteogenesis imperfecta

Winson S Ho1,2, John A Jane2

  • 11Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland; and.

Journal of Neurosurgery. Pediatrics
|July 7, 2018
PubMed

Insights

Osteogenesis imperfecta (OI) patients may develop severe cranial deformities after cerebrospinal fluid (CSF) diversion due to over-shunting. Surgical intervention resolved symptoms, highlighting a potential complication in OI management.

Area of Science:

  • Neurology
  • Genetics
  • Neurosurgery

Background:

  • Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility and deformity.
  • Neurological complications like macrocephaly and hydrocephalus are known in OI.
  • Vascular fragility in OI increases the risk of intracranial hemorrhage.

Observation:

  • Cerebrospinal fluid (CSF) diversion is sometimes necessary for hydrocephalus in OI patients.
  • A rare complication of CSF diversion in an OI patient was delayed, severe cranial deformity.
  • This deformity was presumed to be caused by over-shunting.

Findings:

  • The cranial deformity resulted in cosmetic concerns, severe headaches, and tenderness.
  • Surgical correction with craniectomy and titanium mesh cranioplasty led to symptom resolution.
  • This case suggests over-shunting may predispose OI patients to cranial deformities.

Implications:

  • Clinicians should consider the risk of over-shunting when performing CSF diversion in OI patients.
  • Early recognition and management of cranial deformity secondary to over-shunting are crucial.
  • This finding may necessitate revised protocols for CSF diversion in individuals with Osteogenesis imperfecta.

Keywords:
OI = osteogenesis imperfectaSPS = subdural peritoneal shuntVPS = ventriculoperitoneal shuntcranial deformitycraniofacialosteogenesis imperfectashunt

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