Maternally inherited Leigh syndrome: an unusual cause of infantile apnea.
BACKGROUND
Leigh Syndrome is an uncommon cause of infantile apnea.


METHODS
We report a 5-month-old girl with sudden respiratory arrest followed by episodic hyper- and hypo-ventilation, encephalopathy, and persistent lactic acidosis. Computed tomography of the brain revealed symmetric low densities over the basal ganglia, internal capsule, thalami, and midbrain. Cardiac echocardiogram was suggestive of hypertrophic cardiomyopathy.


CONCLUSIONS
Diagnosis of Leigh syndrome due to T8993G mutation was confirmed with polymerase chain reaction and direct DNA sequencing of mitochondrial genome. To our knowledge, this is the first report of proven maternally inherited Leigh syndrome in Hong Kong.
Shuk-kuen Chau
Christy
C
Department of Paediatrics & Adolescent Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China.
Kwok
Ka-li
KL
Ng
Daniel K
DK
Lam
Ching-Wan
CW
Tong
Sui-Fan
SF
Chan
Yan-Wo
YW
Siu
Wai-Kwan
WK
Yuen
Yuet-Ping
YP
D001921:Brain / Q000473:pathology; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D002544:Cerebral Infarction / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D041321:Chromosomes, Human, X / Q000235:genetics*; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D006333:Heart Failure / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008931:Mitochondria, Muscle / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D017354:Point Mutation; D012131:Respiratory Insufficiency / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D012135:Respiratory Sounds / Q000209:etiology; D017422:Sequence Analysis, DNA; D014057:Tomography, X-Ray Computed
D004272:DNA, Mitochondrial