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An Achondroplasic Case with Foramen Magnum Stenosis, Hydrocephaly, Cortical Atrophy, Respiratory Failure and Sympathetic Dysfunction
Ozcetin, Mustafa; Arslan, Mehmet Tayip & Karapinar, Bulent
Abstract
Background: Achondroplasia is a relatively frequent genetic disorder that may lead to limb weakness, motormental
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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