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Article: Neurogenerative diseases in children
Title | Neurogenerative diseases in children |
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Authors | |
Keywords | Neurodevelopmental disorders, children Metabolism, inborn errors Mental retardation |
Issue Date | 1997 |
Publisher | Hong 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? |
Abstract | The 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 Identifier | http://hdl.handle.net/10722/45222 |
ISSN | 2023 Impact Factor: 3.1 2023 SCImago Journal Rankings: 0.261 |
DC Field | Value | Language |
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dc.contributor.author | Wong, V | en_HK |
dc.date.accessioned | 2007-10-30T06:20:13Z | - |
dc.date.available | 2007-10-30T06:20:13Z | - |
dc.date.issued | 1997 | en_HK |
dc.identifier.citation | Hong Kong Medical Journal, 1997, v. 3 n. 1, p. 89-95 | en_HK |
dc.identifier.issn | 1024-2708 | en_HK |
dc.identifier.uri | http://hdl.handle.net/10722/45222 | - |
dc.description.abstract | The 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.extent | 442023 bytes | - |
dc.format.extent | 3620 bytes | - |
dc.format.mimetype | application/pdf | - |
dc.format.mimetype | text/plain | - |
dc.language | eng | en_HK |
dc.publisher | Hong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org.hk | en_HK |
dc.subject | Neurodevelopmental disorders, children | en_HK |
dc.subject | Metabolism, inborn errors | en_HK |
dc.subject | Mental retardation | en_HK |
dc.title | Neurogenerative diseases in children | en_HK |
dc.type | Article | en_HK |
dc.identifier.openurl | http://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+children | en_HK |
dc.description.nature | published_or_final_version | en_HK |
dc.identifier.pmid | 11847361 | en_HK |
dc.identifier.hkuros | 23264 | - |
dc.identifier.issnl | 1024-2708 | - |