| Connatal Pelizaeus-Merzbacher disease: an autosomal recessive form. | |
| | |
MedLine Citation:
|
PMID: 3508078 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
An infant female had connatal Pelizaeus-Merzbacher disease with neonatal onset of developmental failure, seizures, nystagmus, visual impairment, abnormal movements, and spasticity. There was nearly complete absence of central myelin with preservation of peripheral myelin. The 17 reported patients with connatal Pelizaeus-Merzbacher disease are summarized. Evidence of autosomal recessive inheritance is provided by our patient, 3 previously described girls, and 1 family with both boys and girls affected equally. This possible form of inheritance is important to consider in genetic counseling. |
| | |
Authors:
|
S B Cassidy; N C Sheehan; D F Farrell; M Grunnet; G L Holmes; A W Zimmerman |
Related Documents
:
|
18449908 - Genome screen of late-onset alzheimer's extended pedigrees identifies trpc4ap by haplot... 8529708 - The value of family investigations in newly detected charcot-marie-tooth disease in chi... 2896078 - X-linked lymphoproliferative disease: linkage studies using dna probes. 16451658 - A gene-model-free method for linkage analysis of a disease-related-trait based on analy... 18449908 - Genome screen of late-onset alzheimer's extended pedigrees identifies trpc4ap by haplot... 2690288 - Comprehensive review of morbidity and mortality trends for rheumatic fever, streptococc... |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Pediatric neurology Volume: 3 ISSN: 0887-8994 ISO Abbreviation: Pediatr. Neurol. Publication Date: 1987 Sep-Oct |
Date Detail:
|
Created Date: 1989-06-01 Completed Date: 1989-06-01 Revised Date: 2006-05-23 |
Medline Journal Info:
|
Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 300-5 Citation Subset: IM |
Affiliation:
|
Department of Pediatrics, University of Connecticut, Farmington 06032. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Brain
/
pathology Chromosome Aberrations / genetics*, pathology Chromosome Disorders Diffuse Cerebral Sclerosis of Schilder / genetics*, pathology Female Genes, Recessive* Humans Infant Microscopy, Electron Nerve Fibers, Myelinated / pathology Tomography, X-Ray Computed |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Vocal cord paralysis in children studied by monopolar electromyography.
Next Document: Intrauterine chronic subdural hematoma with postoperative tension pneumocephalus.