Abstract | INTRODUCTION: CASE SUMMARY: 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. DISCUSSION:
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Authors | Christy Shuk-kuen Chau, Ka-li Kwok, Daniel K Ng, Ching-Wan Lam, Sui-Fan Tong, Yan-Wo Chan, Wai-Kwan Siu, Yuet-Ping Yuen |
Journal | Sleep & breathing = Schlaf & Atmung
(Sleep Breath)
Vol. 14
Issue 2
Pg. 161-5
(Jun 2010)
ISSN: 1522-1709 [Electronic] Germany |
PMID | 19669818
(Publication Type: Journal Article)
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Chemical References |
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Topics |
- Brain
(pathology)
- Cardiomyopathy, Hypertrophic, Familial
(diagnosis, genetics, pathology)
- Cerebral Infarction
(diagnosis, genetics, pathology)
- Chromosomes, Human, X
(genetics)
- DNA Mutational Analysis
- DNA, Mitochondrial
(genetics)
- Female
- Genetic Counseling
- Heart Failure
(diagnosis, genetics, pathology)
- Humans
- Infant
- Leigh Disease
(diagnosis, genetics, pathology)
- Mitochondria, Muscle
(pathology)
- Muscle, Skeletal
(pathology)
- Point Mutation
- Respiratory Insufficiency
(diagnosis, genetics, pathology)
- Respiratory Sounds
(etiology)
- Sequence Analysis, DNA
- Tomography, X-Ray Computed
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