Child's Nervous System

, 25:217

Neurosurgical aspects of childhood hypophosphatasia

  • H. Collmann
  • E. Mornet
  • S. Gattenlöhner
  • C. Beck
  • H. Girschick
Original Paper

DOI: 10.1007/s00381-008-0708-3

Cite this article as:
Collmann, H., Mornet, E., Gattenlöhner, S. et al. Childs Nerv Syst (2009) 25: 217. doi:10.1007/s00381-008-0708-3

Abstract

Objective

Hypophosphatasia (HPP; MIM241510) is a rare inborn error of bone metabolism of recessive inheritance. It is caused by mutations in the gene encoding the tissue-nonspecific alkaline phosphatase. Apart from problems in bone mineralization, growth failure, and premature loss of decidual teeth, the infantile and the childhood types of HPP are associated with premature fusion of cranial sutures.

Patients

We report on seven children affected with infantile and childhood HPP who presented with craniosynostosis.

Results

Neurosurgical intervention was necessary in four of them because of intracranial hypertension. In one of these, severe dural calcification posed an unexpected problem during surgery. Secondary ectopia of the cerebellar tonsils were detected in five of the seven patients and caused hydrosyringomyelia in one of them.

Conclusions

Since cranial sutures are frequently involved in infantile and childhood HPP, a multidisciplinary approach for the clinical care is necessary, including long-term neurosurgical surveillance.

Keywords

HypophosphatasiaCraniosynostosisIntracranial hypertensionChiari I malformation

Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • H. Collmann
    • 1
  • E. Mornet
    • 2
  • S. Gattenlöhner
    • 3
  • C. Beck
    • 4
  • H. Girschick
    • 4
  1. 1.Section of Pediatric NeurosurgeryUniversity of WürzburgWürzburgGermany
  2. 2.Laboratoire SESEPCentre Hospitalier de VersaillesVersaillesFrance
  3. 3.Pathological InstituteUniversity of WürzburgWürzburgGermany
  4. 4.Department of PediatricsUniversity of WürzburgWürzburgGermany