An Achondroplasic Case with Foramen Magnum Stenosis, Hydrocephaly, Cortical Atrophy, Respiratory Failure and Sympathetic Dysfunction

Bulent Karapinar; Mehmet Tayip Arslan; Mustafa Ozcetin

IJ Pediatrics

The Scientific Journal of Growth & Development Research Center

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An Achondroplasic Case with Foramen Magnum Stenosis, Hydrocephaly, Cortical Atrophy, Respiratory Failure and Sympathetic Dysfunction

Author(s):

Bulent Karapinar¹,

Mehmet Tayip Arslan¹,

Mustafa Ozcetin^2,*

1Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey

2Department of Pediatrics, Faculty of Medicine, Zonguldak Karaelmas University, Zonguldak, Turkey

IJ Pediatrics:Vol. 22, issue 1; 12-124

Published online:Mar 31, 2012

Article type:Case Report

Received:Jan 01, 2011

Accepted:Apr 04, 2011

How to Cite:Bulent KarapinarMehmet Tayip ArslanMustafa OzcetinAn Achondroplasic Case with Foramen Magnum Stenosis, Hydrocephaly, Cortical Atrophy, Respiratory Failure and Sympathetic Dysfunction.Iran J Pediatr.22(1):12-124.

Abstract

Background: Achondroplasia is a relatively frequent genetic disorder that may lead to limb weakness, motor-mental retardation, hydrocephaly, and respiratory disorders. In this pathology, foramen magnum stenosis and accompanying disorders like respiratory depression is well documented.
Case Presentation: A 2.5 year-old child with the diagnosis of achondroplasia admitted to our clinic with severe respiratory depression, limb weakness, and motor mental retardation as well as sympathetic dysfunction. In radiologic evaluations, severe foramen magnum stenosis was detected. The patient was operated and posterior fossa decompression was accomplished to prevent compression of respiratory centers and neurons.
Conclusion: This case is unique with the narrowest foramen magnum reported up to date and the sympathetic dysfunction which is not reported as a complication in achondroplasic patients. The authors review the relevant literature, focusing on the indications for cervicomedullary decompression in infants with achondroplasia.

Keywords

Achondroplasia

Foramen Magnum

Respiratory Depression

Sympathetic Dysfunction

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