A unifying theory for the multifactorial origin of cerebellar tonsillar herniation and hydrocephalus in osteopetrosis

J Neurosurg Pediatr. 2014 Dec;14(6):665-73. doi: 10.3171/2014.8.PEDS14190. Epub 2014 Oct 17.


Object: Osteopetrosis is a rare congenital metabolic bone disease. There are very few reports in the literature associating cerebellar tonsillar herniation (CTH) and hydrocephalus requiring neurosurgical attention. The authors present cases of osteopetrosis requiring neurosurgical intervention from their practice and offer a detailed account of the literature.

Methods: A retrospective review was conducted at the authors' institution, and all children with osteopetrosis requiring neurosurgical attention were identified. Medical charts and radiographic studies were reviewed. Data including age at presentation, sex, symptoms at presentation, age at follow-up, the presence of any neurological comorbidities, and surgical procedures performed were recorded.

Results: Four patients were identified as having osteopetrosis requiring neurosurgical attention at the authors' institution between January 1, 2005, and January 1, 2014. There were 3 females and 1 male with an average age at presentation of 11.1 years; patients were observed for a mean of 4.4 years. All of the patients were identified as harboring jugular foraminal stenosis and CTH. Seventy-five percent of these patients developed hydrocephalus, and in those cases a triventricular pattern of dilation was noted. One patient developed syringomyelia. Three of the 4 patients underwent neurosurgical procedures. Cerebrospinal fluid diversion was performed in 2 patients via a ventriculoperitoneal shunt in one case and an endoscopic third ventriculostomy (ETV) in the other. The former patient required a proximal revision at 2 years for bony overgrowth at the site of the bur hole. Two patients underwent a suboccipital decompression. In patients undergoing CSF diversion, there was improvement in ventricle size.

Conclusions: Variable degrees of hindbrain crowding and/or CTH are mentioned throughout the literature, suggesting that this entity is nearly always present in this patient population. The progressive triventricular hydrocephalus seen in these cases results from a complex combination of both communicating and noncommunicating pathology, which may depend on the type of osteopetrosis, age at presentation, and the presence and degree of venous collateralization, and it appears that the hydrocephalus is more prevalent and more likely to be treated in infants and in the younger, school-aged population. The acquired hindbrain fullness in conjunction with the triventricular pattern of hydrocephalus has kept the authors enthusiastic regarding the use of ETV in these complicated cases.

Keywords: CTH = cerebellar tonsillar herniation; ETV = endoscopic third ventriculostomy; ICP = intracranial pressure; MRV = MR venography; ONSF = optic nerve sheath fenestration; SOD = suboccipital decompression; VP = ventriculoperitoneal; cerebellar tonsillar herniation; endoscopic third ventriculostomy; hydrocephalus; osteopetrosis; ventriculoperitoneal shunt.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cerebral Ventricles / pathology*
  • Child
  • Child, Preschool
  • Decompression, Surgical
  • Dilatation, Pathologic
  • Encephalocele / etiology
  • Encephalocele / surgery*
  • Female
  • Follow-Up Studies
  • Humans
  • Hydrocephalus / etiology
  • Hydrocephalus / surgery*
  • Infant
  • Male
  • Neuroendoscopy
  • Osteopetrosis / complications*
  • Reoperation
  • Retrospective Studies
  • Syringomyelia / etiology
  • Syringomyelia / surgery
  • Tomography, X-Ray Computed
  • Ventriculoperitoneal Shunt*
  • Ventriculostomy* / methods
  • Young Adult