|
KMID : 0391520160240040272
|
|
Journal of the Korean Child Neurology Society
2016 Volume.24 No. 4 p.272 ~ p.277
|
|
|
A Child with Delayed Development First Diagnosed with Turner Syndrome and Later with Leigh-like Syndrome
|
|
Lee Sung-Hee
Yum Mi-Sun
Kim Eun-Hee
Lee Yun-Jeong
Yoo Han-Wook
Ko Tae-Sung
|
|
|
Abstract
|
|
|
|
Leigh disease is a mitochondrial disease manifesting neurodegenerative symptoms. Turner syndrome is defined as a complete or partial absence of one X chromosome. Here we report on a case of Leigh-like syndrome accompanied by Turner syndrome. A 7-year-old girl was admitted because of ataxia and excessive drooling, which had begun insidiously several months prior. She had been diagnosed as having Turner syndrome with a low-level mosaicism of 45X/46XX (3%), mild mental retardation (IQ=50), short stature (<3rd percentile for her age), and asymptomatic Wolff-Parkinson-White (WPW) syndrome during her previous work-up for delayed development at 5 years of age. She had been receiving a growth hormone treatment. She was 117.4 cm tall (10-25th percentile) and weighed 16 kg (10th percentile). Her neurologic examination revealed normal motor power and cranial nerve functions except for a resting tremor aggravated by action and bilateral ankle clonus. Brain imaging demonstrated heterogeneous T2 hyperintense lesions in the bilateral basal ganglia, and magnetic resonance spectroscopy showed prominent lactate doublet peaks and a decreased N-acetyl aspartate (NAA) peak on the basal ganglia and the occipital gray matter. Subsequent mitochondrial gene sequencing revealed a mitochondrial deoxyribonucleic acid (mtDNA) mutation (m.1644G>A in transfer ribonucleic acid (tRNA)Val), which was found in patients with Leigh-like syndrome and her encephalopathy was thought to be led by this mutation. We describe a child with both Leigh-like syndrome and Turner syndrome. It is the first reported case of a mitochondrial disease in tandem with Turner syndrome. When a patient has unexplained symptoms, another diagnosis should be investigated even if they have a known genetic disorder.
|
|
|
KEYWORD
|
|
|
Leigh-like syndrome, Turner syndrome
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
  
|