title: Gender variability in presentation with Alpers' syndrome: a report of eight patients from the UAE.
abstract: BACKGROUND
  Alpers' syndrome is a progressive and often fatal cerebral and hepatic degeneration caused by a mutation in the polymerase gamma (POLG) gene involved in mitochondrial DNA replication.
  
  
  OBJECTIVE
  We report on eight successive cases from five families.
  
  
  METHODS
  Our analysis consisted of case series reports and literature search.
  
  
  RESULTS
  The eight patients were from five extended families, all with clinical manifestations of the syndrome. Seven were confirmed by POLG sequence analysis and one died before testing was possible. We observed that whereas the five females presented with advanced hepatic disease at the onset of neurological symptoms, the three males had normal hepatic function well after presentation, with progressive neurological disease. Two of the three males are distant relatives; two of the five females were sisters of two male patients.
  
  
  CONCLUSIONS
  Most authors report the coexistence of both hepatic and cerebral disease at the onset of Alpers' syndrome. It is unusual that all three males in our series had no signs of liver disease but had advanced neurological signs.
  
  
  CONCLUSIONS
  Initial manifestations in Alpers' syndrome may be gender specific. In males, the condition should be considered in patients with seizures and encephalopathy, even in the absence of hepatic disease.
authors.affiliation: Division of Pediatric Neurology, Pediatric Institute Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates. drmohamedpaed@yahoo.co.uk
authors.forename: Khalid
authors.initials: K
authors.lastname: Mohamed
authors.forename: Waseem
authors.initials: W
authors.lastname: Fathallah
authors.forename: Elamin
authors.initials: E
authors.lastname: Ahmed
mesh_terms: D000410:Alanine Transaminase / Q000378:metabolism; D001219:Aspartate Aminotransferases / Q000378:metabolism; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D000074002:DNA Polymerase gamma; D004261:DNA Replication; D004272:DNA, Mitochondrial / Q000235:genetics; D004259:DNA-Directed DNA Polymerase / Q000235:genetics; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis* / Q000453:epidemiology*; D004569:Electroencephalography / Q000379:methods; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009154:Mutation; D012737:Sex Factors; D014479:United Arab Emirates; D005723:gamma-Glutamyltransferase / Q000378:metabolism
chemical_list: D004272:DNA, Mitochondrial; D005723:gamma-Glutamyltransferase; D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase