Cranial reconstruction for treatment of intracranial hypertension from sclerosteosis

Case-based update

Sunil Tholpady, Zachary H. Dodd, Robert J. Havlik, Daniel H. Fulkerson

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Background: Sclerosteosis (OMIM 269500) is a progressive, autosomal recessive, sclerosing bone disorder with a well defined phenotype. This phenotype is correlated with a deficiency in the protein product sclerostin, leading to bony overgrowth from the loss of inhibition of osteocyte function. Calvarial overgrowth can lead to cranial nerve palsies, visual impairment, and compression of the medulla at the foramen magnum. There is a presumption that calvarial thickening may lead to elevated intracranial pressure in these patients, although pressure measurements have not been published. Case Description: The authors report the case of a 28-year-old Saudi Arabian man with sclerostosis, progressive headaches, and a cervical spinal cord syrinx. A cranial reconstruction was performed by aggressively thinning the thickened cortical bone, thereby expanding the intracranial space. The measured intracranial pressure was 25-40 mm HG under anesthesia. Conclusions: After surgery, the patient had resolution of the headaches and radiographic near-resolution of the syrinx. The authors review their experience and the relevant literature with this rare case.

Original languageEnglish
JournalWorld Neurosurgery
Volume81
Issue number2
DOIs
StatePublished - 2014

Fingerprint

Intracranial Hypertension
Syringes
Headache
Foramen Magnum
Genetic Databases
Phenotype
Cranial Nerve Diseases
Osteocytes
Protein Deficiency
Vision Disorders
Intracranial Pressure
Anesthesia
Pressure
Bone and Bones
Therapeutics
Sclerosteosis
Cervical Cord
Cortical Bone

Keywords

  • Cranial reconstruction
  • Intracranial pressure
  • Sclerosteosis
  • Sclerostin
  • Syrinx

ASJC Scopus subject areas

  • Clinical Neurology
  • Surgery

Cite this

Cranial reconstruction for treatment of intracranial hypertension from sclerosteosis : Case-based update. / Tholpady, Sunil; Dodd, Zachary H.; Havlik, Robert J.; Fulkerson, Daniel H.

In: World Neurosurgery, Vol. 81, No. 2, 2014.

Research output: Contribution to journalArticle

Tholpady, Sunil ; Dodd, Zachary H. ; Havlik, Robert J. ; Fulkerson, Daniel H. / Cranial reconstruction for treatment of intracranial hypertension from sclerosteosis : Case-based update. In: World Neurosurgery. 2014 ; Vol. 81, No. 2.
@article{fba2a1cdf55641e587e1c0a2c399ec08,
title = "Cranial reconstruction for treatment of intracranial hypertension from sclerosteosis: Case-based update",
abstract = "Background: Sclerosteosis (OMIM 269500) is a progressive, autosomal recessive, sclerosing bone disorder with a well defined phenotype. This phenotype is correlated with a deficiency in the protein product sclerostin, leading to bony overgrowth from the loss of inhibition of osteocyte function. Calvarial overgrowth can lead to cranial nerve palsies, visual impairment, and compression of the medulla at the foramen magnum. There is a presumption that calvarial thickening may lead to elevated intracranial pressure in these patients, although pressure measurements have not been published. Case Description: The authors report the case of a 28-year-old Saudi Arabian man with sclerostosis, progressive headaches, and a cervical spinal cord syrinx. A cranial reconstruction was performed by aggressively thinning the thickened cortical bone, thereby expanding the intracranial space. The measured intracranial pressure was 25-40 mm HG under anesthesia. Conclusions: After surgery, the patient had resolution of the headaches and radiographic near-resolution of the syrinx. The authors review their experience and the relevant literature with this rare case.",
keywords = "Cranial reconstruction, Intracranial pressure, Sclerosteosis, Sclerostin, Syrinx",
author = "Sunil Tholpady and Dodd, {Zachary H.} and Havlik, {Robert J.} and Fulkerson, {Daniel H.}",
year = "2014",
doi = "10.1016/j.wneu.2012.11.061",
language = "English",
volume = "81",
journal = "World Neurosurgery",
issn = "1878-8750",
publisher = "Elsevier Inc.",
number = "2",

}

TY - JOUR

T1 - Cranial reconstruction for treatment of intracranial hypertension from sclerosteosis

T2 - Case-based update

AU - Tholpady, Sunil

AU - Dodd, Zachary H.

AU - Havlik, Robert J.

AU - Fulkerson, Daniel H.

PY - 2014

Y1 - 2014

N2 - Background: Sclerosteosis (OMIM 269500) is a progressive, autosomal recessive, sclerosing bone disorder with a well defined phenotype. This phenotype is correlated with a deficiency in the protein product sclerostin, leading to bony overgrowth from the loss of inhibition of osteocyte function. Calvarial overgrowth can lead to cranial nerve palsies, visual impairment, and compression of the medulla at the foramen magnum. There is a presumption that calvarial thickening may lead to elevated intracranial pressure in these patients, although pressure measurements have not been published. Case Description: The authors report the case of a 28-year-old Saudi Arabian man with sclerostosis, progressive headaches, and a cervical spinal cord syrinx. A cranial reconstruction was performed by aggressively thinning the thickened cortical bone, thereby expanding the intracranial space. The measured intracranial pressure was 25-40 mm HG under anesthesia. Conclusions: After surgery, the patient had resolution of the headaches and radiographic near-resolution of the syrinx. The authors review their experience and the relevant literature with this rare case.

AB - Background: Sclerosteosis (OMIM 269500) is a progressive, autosomal recessive, sclerosing bone disorder with a well defined phenotype. This phenotype is correlated with a deficiency in the protein product sclerostin, leading to bony overgrowth from the loss of inhibition of osteocyte function. Calvarial overgrowth can lead to cranial nerve palsies, visual impairment, and compression of the medulla at the foramen magnum. There is a presumption that calvarial thickening may lead to elevated intracranial pressure in these patients, although pressure measurements have not been published. Case Description: The authors report the case of a 28-year-old Saudi Arabian man with sclerostosis, progressive headaches, and a cervical spinal cord syrinx. A cranial reconstruction was performed by aggressively thinning the thickened cortical bone, thereby expanding the intracranial space. The measured intracranial pressure was 25-40 mm HG under anesthesia. Conclusions: After surgery, the patient had resolution of the headaches and radiographic near-resolution of the syrinx. The authors review their experience and the relevant literature with this rare case.

KW - Cranial reconstruction

KW - Intracranial pressure

KW - Sclerosteosis

KW - Sclerostin

KW - Syrinx

UR - http://www.scopus.com/inward/record.url?scp=84896393761&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84896393761&partnerID=8YFLogxK

U2 - 10.1016/j.wneu.2012.11.061

DO - 10.1016/j.wneu.2012.11.061

M3 - Article

VL - 81

JO - World Neurosurgery

JF - World Neurosurgery

SN - 1878-8750

IS - 2

ER -