Connatal Pelizaeus-Merzbacher disease

Type II connatal Pelizaeus-Merzbacher disease is a degenerative disease of the developing nervous system. Confirmation of diagnosis is only by histopathological examination at present. The authors describe an infant with several clinical features which are apparently unique to this disease. These fe...

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Published in:	Developmental medicine and child neurology Vol. 31; no. 6; p. 803
Main Authors:	Haenggeli, C A, Engel, E, Pizzolato, G P
Format:	Journal Article
Language:	English
Published:	England 01-12-1989
Subjects:	Brain - pathology Child, Preschool Diffuse Cerebral Sclerosis of Schilder - diagnosis Diffuse Cerebral Sclerosis of Schilder - physiopathology Humans Magnetic Resonance Imaging Male
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Abstract	Type II connatal Pelizaeus-Merzbacher disease is a degenerative disease of the developing nervous system. Confirmation of diagnosis is only by histopathological examination at present. The authors describe an infant with several clinical features which are apparently unique to this disease. These features may allow a presumptive clinical diagnosis to be made in other cases, thereby allowing valuable genetic counselling to be given before the death of the affected infant enables confirmation by autopsy.
AbstractList	Type II connatal Pelizaeus-Merzbacher disease is a degenerative disease of the developing nervous system. Confirmation of diagnosis is only by histopathological examination at present. The authors describe an infant with several clinical features which are apparently unique to this disease. These features may allow a presumptive clinical diagnosis to be made in other cases, thereby allowing valuable genetic counselling to be given before the death of the affected infant enables confirmation by autopsy.
Author	Haenggeli, C A Engel, E Pizzolato, G P
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BackLink	https://www.ncbi.nlm.nih.gov/pubmed/2599273$$D View this record in MEDLINE/PubMed
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SubjectTerms	Brain - pathology Child, Preschool Diffuse Cerebral Sclerosis of Schilder - diagnosis Diffuse Cerebral Sclerosis of Schilder - physiopathology Humans Magnetic Resonance Imaging Male
Title	Connatal Pelizaeus-Merzbacher disease
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