Document Detail

Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review.
MedLine Citation:
PMID:  9378897     Owner:  NLM     Status:  MEDLINE    
Argininemia, a rare autosomal recessive urea cycle disorder, is caused by a deficiency of arginase, with resulting elevated plasma arginine and ammonia levels. Reports to date have focused little on the neurology of this disorder or the efficacy of treatments. A MEDLINE search revealed 25 previously reported cases, to which we have added two brothers who presented with late onset progressive spastic diplegia. Though their degree of enzyme deficiency was comparable, the severity of their phenotypic abnormalities differed substantially. With dietary therapy, both showed improved cognitive and motor function. Late metabolic crises occurred in both, resulting in death of the less severely affected brother. Based on analysis of our clinical database, we report on the full spectrum of neurologic abnormalities seen in argininemia with particular focus on the accompanying progressive spastic diplegia and its response to treatment; progressive decline in head growth; distinctive neuroradiologic findings; and life-threatening later complications. Current and potential future therapies and long-term outcome are summarized.
A N Prasad; J C Breen; M G Ampola; N P Rosman
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Journal of child neurology     Volume:  12     ISSN:  0883-0738     ISO Abbreviation:  J. Child Neurol.     Publication Date:  1997 Aug 
Date Detail:
Created Date:  1997-11-07     Completed Date:  1997-11-07     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  301-9     Citation Subset:  IM    
Department of Pediatrics, Tufts University School of Medicine, Boston, MA, USA.
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MeSH Terms
Amino Acid Metabolism, Inborn Errors / complications,  genetics,  therapy*
Amino Acids, Essential / therapeutic use
Arginase / blood
Arginine / blood*
Atrophy / etiology
Cerebellum / pathology
Cerebral Cortex / pathology
Cerebral Palsy / etiology*,  therapy
Child, Preschool
Cognition Disorders / etiology
Dietary Proteins / adverse effects
Disease Progression
Fatal Outcome
Follow-Up Studies
Microcephaly / etiology
Models, Neurological
Muscle Spasticity / etiology*,  therapy
Neurodegenerative Diseases / etiology*,  therapy
Seizures / etiology
Treatment Outcome
Vomiting / etiology
Reg. No./Substance:
0/Amino Acids, Essential; 0/Dietary Proteins; 74-79-3/Arginine; EC

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