Juvenile Alpers disease.
BACKGROUND
Alpers disease is commonly associated with polymerase gamma deficiency and usually affects infants or young children.


OBJECTIVE
To report a juvenile case of Alpers disease due to mutations in the polymerase gamma gene (POLG1).


METHODS
Clinical, pathologic, biochemical, and molecular analysis.


METHODS
Tertiary care university hospital and academic institutions.


METHODS
A 17-year-old adolescent girl with intractable epilepsy and liver disease.


METHODS
Clinical course and pathologic, biochemical, and molecular features.


RESULTS
Biochemical and pathologic evidence suggested a respiratory chain defect, which was confirmed by enzyme analysis of the liver. Mutational analysis of POLG1 showed 2 novel mutations: T851A and R1047W.


CONCLUSIONS
The POLG1 mutations can cause juvenile and childhood Alpers disease.
Wiltshire
Esko
E
Department of Pediatrics and Child Health, Wellington School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand.
Davidzon
Guido
G
DiMauro
Salvatore
S
Akman
Hasan O
HO
Sadleir
Lynette
L
Haas
Lindsay
L
Zuccollo
Jane
J
McEwen
Alison
A
Thorburn
David R
DR
D000293:Adolescent; D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D004351:Drug Resistance; D004569:Electroencephalography; D004579:Electron Transport / Q000235:genetics / Q000502:physiology; D005091:Exons / Q000235:genetics; D005190:Family; D005260:Female; D006579:Heterozygote; D006801:Humans; D008107:Liver Diseases / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D009154:Mutation; D012640:Seizures / Q000209:etiology / Q000473:pathology
D000927:Anticonvulsants; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human