Document Detail

Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency--MRI, clinical, biochemical and neuropathological findings of Polish patients.
MedLine Citation:
PMID:  20054783     Owner:  NLM     Status:  MEDLINE    
Adenylosuccinate lyase (ADSL) deficiency is an autosomal recessive disorder caused by mutation in the ADSL gene. The disease was identified in 1984 by Jaeken and van der Berghe as the first inborn defect of purine biosynthesis. Affected children revealed encephalopathy with epilepsy and marked psychomotor retardation. A neurological examination showed hypotonia, followed sometimes after years by spasticity. The diagnosis is based on detection in the urine and CSF succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide ribotide (SAICAr). We present brain MR examinations of seven patients with ADSL deficiency in the correlation with their clinical findings. In all cases lack of myelination or of delayed myelination of cerebral white matter was seen. Additionally cerebral and cerebellar atrophy was observed. Neuropathological findings revealed damage of all cellular elements of brain tissue and are cause of observed MR changes. Hypo/dysmyelination seemed to be secondary to damage of oligodendroglia and axons of damaged neuronal cells.
Hanna Mierzewska; Bogna Schmidt-Sidor; Elzbieta Jurkiewicz; Anna Bogda?ska; Katarzyna Ku?mierska; Tomasz Stepie?
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Folia neuropathologica / Association of Polish Neuropathologists and Medical Research Centre, Polish Academy of Sciences     Volume:  47     ISSN:  1509-572X     ISO Abbreviation:  Folia Neuropathol     Publication Date:  2009  
Date Detail:
Created Date:  2010-01-07     Completed Date:  2010-03-31     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9437431     Medline TA:  Folia Neuropathol     Country:  Poland    
Other Details:
Languages:  eng     Pagination:  314-20     Citation Subset:  IM    
Department of Child and Adolescent Neurology Institute of Mother and Child, The Children's Memorial Health Institute, Warsaw, Poland.
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MeSH Terms
Adenylosuccinate Lyase / deficiency*,  genetics
Atrophy / pathology
Brain / pathology*
Brain Mapping
Child, Preschool
Demyelinating Diseases / genetics,  pathology*
Encephalitis / genetics,  pathology*
Infant, Newborn
Magnetic Resonance Imaging
Muscle Hypotonia / etiology,  genetics,  pathology
Muscle Spasticity / etiology,  genetics,  pathology
Neurons / pathology
Purine-Pyrimidine Metabolism, Inborn Errors / complications,  genetics,  pathology*
Seizures / etiology,  genetics,  pathology
Reg. No./Substance:
EC Lyase

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