Clinical Brief

The Indian Journal of Pediatrics

, Volume 74, Issue 4, pp 412-415

First online:

Osteopetrosis with Arnold Chiari malformation type I and brain stem compression

  • M. L. KulkarniAffiliated withDepartment of Pediatrics J.J.M. Medical College
  • , S. N. MarakkanavarAffiliated withDepartment of Pediatrics J.J.M. Medical College
  • , S. SushanthAffiliated withDepartment of Pediatrics J.J.M. Medical College
  • , N. PradeepAffiliated withDepartment of Pediatrics J.J.M. Medical College
  • , C. AshokAffiliated withDepartment of Pediatrics J.J.M. Medical College
  • , M. D. BalajiAffiliated withDepartment of Pediatrics J.J.M. Medical College
  • , K. P. SajithAffiliated withDepartment of Pediatrics J.J.M. Medical College
  • , G. SrinivasAffiliated withDepartment of Pediatrics J.J.M. Medical College

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Abstract

Osteopetrosis is a collective term for a range of sclerosing bone diseases resulting from an absence or defective function of osteoclasts. The clinical expression is variable and includes skeletal, hematological and neurological manifestations. The common neurological manifestation includes cranial neuropathies involving optic, cochlear, facial and trigeminal nerves. Spastic quadriplegia occurring as a result of brain stem compression in osteopetrosis is uncommon. The association of Type 1 Arnold Chiari malformation with osteopetrosis resulting in brain stem compression syndrome is an extremely rare entity.

Key words

Osteopetrosis Arnold chiari malformation Brain stem compression Syringiomyelia