Results 241 to 250 of about 6,089,967 (287)

Leigh’s syndrome

The Indian Journal of Pediatrics, 2004
A 15-month-old female child presented with sudden onset cough and hyperventilation along with evidence of metabolic acidosis. She had past history of recurrent vomiting, episodes of abnormal posturing, difficulty in deglutition and regression of milestones since 12 months of age.
A A S R, Mannan, M C, Sharma, P, Shrivastava, A M, Ralte, V, Gupta, M, Behari, C, Sarkar   +6 more
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Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital

Annals of Neurology, 2022
Leigh syndrome (LS) is a heterogeneous neurodegenerative disease and the most frequent pediatric manifestation of mitochondrial disease. In the largest patient collection to date, this study aimed to provide new insights into the clinical and genetic ...
S. L. Stenton, Ying Zou, Hua Cheng, Zhimei Liu, Junling Wang, D. Shen, Hong-mei Jin, C. Ding, Xiaolu Tang, Su-Zhen Sun, Hong Han, Yanli Ma, Weihua Zhang, Ruifeng Jin, Hua Wang, Dan Sun, Junlan Lv, H. Prokisch, Fang Fang   +18 more
semanticscholar   +1 more source

Expanding the phenotype of DNAJC30‐associated Leigh syndrome

Clinical Genetics, 2022
Leigh syndrome (LS) is a progressive neurodegenerative disease, characterized by extensive clinical, biochemical, and genetic heterogeneity. Recently, biallelic variants in DNAJC30 gene, encoding a protein crucial for the repair of mitochondrial complex ...
M. Zawadzka, M. Krygier, Małgorzata Pawłowicz, M. Wilke, K. Rutkowska, N. Gueguen, V. Desquiret-Dumas, E. Klee, L. Schimmenti, J. Sławek, V. Procaccio, R. Płoski, M. Mazurkiewicz-Bełdzińska   +12 more
semanticscholar   +1 more source

Maternally inherited Leigh syndrome

The Journal of Pediatrics, 1993
A 6 1/2-year-old girl had developmental regression, and Leigh syndrome was diagnosed. A second girl born to the same mother after heterologous artificial insemination also lost acquired skills and died at 2 1/2 years of age; neuropathologic examination confirmed the diagnosis of Leigh syndrome. Tissues from both children and from the mother had a point
E, Ciafaloni, F M, Santorelli, S, Shanske, T, Deonna, E, Roulet, C, Janzer, G, Pescia, S, DiMauro   +7 more
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X-Linked Leigh's syndrome

Human Genetics, 1982
Two male half siblings developed rapid progression of neurologic symptoms at 11/2 and 21/2 years of age. Neither boy had a metabolic acidosis. Characteristic features of subacute necrotizing encephalomyelopathy, the neuropathologic basis of Leigh's syndrome, were demonstrated at autopsy.
P J, Benke, J C, Parker, M L, Lubs, J, Benkendorf, A E, Feuer   +4 more
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Leigh syndrome associated with West syndrome

Brain and Development, 2003
Leigh syndrome (LS) (sub-acute necrotizing encephalomyelopathy) is characterized by symmetric brain lesions occurring mainly in the basal ganglia and associated with variable clinical manifestations such as hypotonia, psychomotor retardation, and feeding difficulties. Patients with LS may develop seizures.
Masahiro, Tsuji, Shigekazu, Kuroki, Haruko, Maeda, Mieko, Yoshioka, Toshiro, Maihara, Tatsuya, Fujii, Masatoshi, Ito   +6 more
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Anesthetic implications of Leigh's syndrome

Pediatric Anesthesia, 2004
SummaryLeigh's syndrome (LS) is a mitochondrial disorder characterized by progressive neurodegenerative changes with loss of developmental milestones, abnormalities of central control of respiration, and metabolic derangements. The primary genetic defect involves the respiratory chain complex and pyruvate dehydrogenase complex resulting in abnormal ...
Torin, Shear, Joseph D, Tobias
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Leigh syndrome with progressive ventriculomegaly

Pediatric Neurology, 1994
A 6-month-old female infant was diagnosed with Leigh syndrome after an abnormal muscle specimen was obtained and after magnetic resonance imaging demonstrated characteristic cranial lesions. She presented with episodic hyperventilation, myoclonus, ophthalmoplegia, hypotonia, and elevation of lactate in the cerebrospinal fluid and blood.
C S, Chi, S C, Mak, W J, Shian
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Heterogeneous presentation in Leigh syndrome

Journal of Inherited Metabolic Disease, 1997
Heterogeneous presentation in Leigh syndrome L. Vilarinho1,2*, C. Maia3, T. Coelho4, P. Coutinho4 and F. M. Santorelli2 1Department of Clinical Biology, Instituto de Genetica Medica, Porto, Portugal; 2Department of Neurology, College of Physicians & Surgeons, Columbia University, New York, NY, USA; 3Department of Pediatrics, Hospital S. Januario, Macau;
L, Vilarinho, C, Maia, T, Coelho, P, Coutinho, F M, Santorelli   +4 more
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[Leigh's syndrome].

Harefuah, 1989
Leigh's syndrome is a degenerative nervous system disorder with well-characterized neuropathology. The clinical picture shows progressive neurologic deterioration in infancy leading to death from respiratory arrest. Mitochondrial enzymatic deficiencies are implicated in the pathogenesis of the disease.
T, Lerman-Sagie, M, Mukamel, M, Mimouni
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