Document Detail

Molybdenum cofactor deficiency mimics cerebral palsy: differentiating factors for diagnosis.
MedLine Citation:
PMID:  22759696     Owner:  NLM     Status:  In-Data-Review    
We describe an infant with molybdenum cofactor deficiency, initially diagnosed as cerebral palsy. Clinical features of molybdenum cofactor deficiency, e.g., neonatal seizures, hypertonus/hypotonus, and feeding and respiratory difficulties, resemble those of neonatal hypoxic-ischemic encephalopathy. Our patient, a 2-year-old boy, presented with spastic quadriplegia and mental retardation. He manifested intractable neonatal seizures and diffuse cerebral atrophy. When admitted with bronchitis at age 18 months, his uric acid levels in blood and urine were undetectable. A urinary sulfite test revealed positive results. Further tests revealed elevated urinary levels of xanthine, hypoxanthine, and S-sulfocystein. Sequencing of the MOCS2A gene revealed heterozygosity for c.[265T>C] + [266A>G], diagnosed as molybdenum cofactor deficiency type B. Neonatal seizures, progressive cerebral atrophy, and low serum levels of uric acid may provide diagnostic clues in patients with cerebral palsy of undetermined cause.
Kenjiro Kikuchi; Shin-Ichiro Hamano; Hiroshi Mochizuki; Kimiyoshi Ichida; Hiroyuki Ida
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  47     ISSN:  1873-5150     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2012 Aug 
Date Detail:
Created Date:  2012-07-04     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  147-9     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Elsevier Inc. All rights reserved.
Division of Neurology, Saitama Children's Medical Center, Saitama, Japan; Department of Pediatrics, Jikei University School of Medicine, Tokyo, Japan.
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