Document Detail


Early detection of neurological manifestations in achondroplasia.
MedLine Citation:
PMID:  9202856     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Achondroplasia (ACh) is the most frequent bone dysplasia. The mode of inheritance is autosomal dominant. The incident of neurological complications ranges between 20% and 47%; frequently the symptoms are subtle but are due to such serious conditions as cervicomedullary compressive syndromes, syringomyelia or hydrocephalus; thus, the early identification of this disorder is very important. We made a prospective study of 39 patients (20 female, 19 male) with ACh; their ages ranged from 3 months to 17 years (mean 4 years and 6 months). All patients had hypotonia and psychomotor delay; 3 had recurrent apnea, 1 developed radicular syndrome and 1 had leg paresthesias. The CT scan was normal in 5, 20 had cortical atrophy and 18 communicating hydrocephalus; we identified foramen magnum abnormalities in 28 patients, and reduced craniocervical junction with cervicomedullary compression in 6. Myelography and myelotomography demonstrated spinal compression in 12 patients. The MRI showed cervicomedullary infarct in 1, syringomyelia in 2 and diastematomyelia in 1. The somatosensory evoked responses (SSER) were very useful in the early identification of brain stem and spinal abnormalities. We concluded that the neurological manifestations of pediatric patients with ACh are frequent and very important, demanding comprehensive clinical evaluation even in asymptomatic patients, especially those with severe hypotonia or SSER alterations.
Authors:
M Ruiz-Garcia; A Tovar-Baudin; V Del Castillo-Ruiz; H P Rodriguez; M A Collado; T M Mora; F Rueda-Franco; A Gonzalez-Astiazaran
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery     Volume:  13     ISSN:  0256-7040     ISO Abbreviation:  Childs Nerv Syst     Publication Date:  1997 Apr 
Date Detail:
Created Date:  1997-08-26     Completed Date:  1997-08-26     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8503227     Medline TA:  Childs Nerv Syst     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  208-13     Citation Subset:  IM    
Affiliation:
Department of Neurology, Instituto Nacional de Pediatría, Mexico D.F., Mexico.
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MeSH Terms
Descriptor/Qualifier:
Achondroplasia / diagnosis*
Adolescent
Brain / pathology
Child
Child, Preschool
Evoked Potentials, Somatosensory / physiology
Female
Humans
Hydrocephalus / diagnosis
Infant
Magnetic Resonance Imaging
Male
Muscle Hypotonia / diagnosis
Nervous System Diseases / diagnosis*
Neurologic Examination*
Prospective Studies
Psychomotor Disorders / diagnosis
Spinal Canal / pathology
Spinal Cord / pathology
Spinal Cord Compression / diagnosis

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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