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Article: Neurogenerative diseases in children

TitleNeurogenerative diseases in children
Authors
KeywordsNeurodevelopmental disorders, children
Metabolism, inborn errors
Mental retardation
Issue Date1997
PublisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org.hk
Citation
Hong Kong Medical Journal, 1997, v. 3 n. 1, p. 89-95 How to Cite?
AbstractThe detection of neurodegenerative and neurometabolic diseases in children relies on a high index of suspicion as most will present as common paediatric problems such as recurrent vomiting, feeding problem, failure to thrive, sepsis, or developmental delay. Alternatively, children may present with an acute encephalopathy or with a chronic progressive encephalopathy. Clinical clues suggestive of neurometabolic disorders include encephalopathic features such as microcephaly, macrocephaly, developmental regression, developmental arrest, change in sensorium, seizures, hypotonia, hypertonia, abnormal eye signs; also extrapyramidal or cerebellar signs and systemic features like abnormal respiration, hepatosplenomegaly, abnormal hair, liver dysfunction, renal tubular dysfunction, cardiomyopathy, and feeding difficulties or growth problems. Initial screening include tests for acidosis, ketosis, hyperlacticemia, and hyperammonemia. Further investigations should amino acid chromatography, assays of organic acids, specific enzyme assay of white cell or fibroblast culture, and histopatholgy of cell and tissue biopsy (white blood cell, skin, muscle, conjunctiva, bone marrow, liver, rectum, or brain). The correct diagnosis holds implications for targeted therapeutic intervention, genetic counselling, and possibly, prenatal diagnosis.
Persistent Identifierhttp://hdl.handle.net/10722/45222
ISSN
2015 Impact Factor: 0.887
2015 SCImago Journal Rankings: 0.279

 

DC FieldValueLanguage
dc.contributor.authorWong, Ven_HK
dc.date.accessioned2007-10-30T06:20:13Z-
dc.date.available2007-10-30T06:20:13Z-
dc.date.issued1997en_HK
dc.identifier.citationHong Kong Medical Journal, 1997, v. 3 n. 1, p. 89-95en_HK
dc.identifier.issn1024-2708en_HK
dc.identifier.urihttp://hdl.handle.net/10722/45222-
dc.description.abstractThe detection of neurodegenerative and neurometabolic diseases in children relies on a high index of suspicion as most will present as common paediatric problems such as recurrent vomiting, feeding problem, failure to thrive, sepsis, or developmental delay. Alternatively, children may present with an acute encephalopathy or with a chronic progressive encephalopathy. Clinical clues suggestive of neurometabolic disorders include encephalopathic features such as microcephaly, macrocephaly, developmental regression, developmental arrest, change in sensorium, seizures, hypotonia, hypertonia, abnormal eye signs; also extrapyramidal or cerebellar signs and systemic features like abnormal respiration, hepatosplenomegaly, abnormal hair, liver dysfunction, renal tubular dysfunction, cardiomyopathy, and feeding difficulties or growth problems. Initial screening include tests for acidosis, ketosis, hyperlacticemia, and hyperammonemia. Further investigations should amino acid chromatography, assays of organic acids, specific enzyme assay of white cell or fibroblast culture, and histopatholgy of cell and tissue biopsy (white blood cell, skin, muscle, conjunctiva, bone marrow, liver, rectum, or brain). The correct diagnosis holds implications for targeted therapeutic intervention, genetic counselling, and possibly, prenatal diagnosis.en_HK
dc.format.extent442023 bytes-
dc.format.extent3620 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypetext/plain-
dc.languageengen_HK
dc.publisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org.hken_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subjectNeurodevelopmental disorders, childrenen_HK
dc.subjectMetabolism, inborn errorsen_HK
dc.subjectMental retardationen_HK
dc.titleNeurogenerative diseases in childrenen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1024-2708&volume=3&issue=1&spage=89&epage=95&date=1997&atitle=Neurogenerative+diseases+in+childrenen_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.pmid11847361en_HK
dc.identifier.hkuros23264-

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