OBJECTIVE: To analyze clinical and imaging features and genetic characteristics of @entity8433 with @entity3126 . METHOD: The clinical features and imaging data of 2 cases (1 male, 1 female) seen in Anhui Provincial @entity1 's Hospital from 2012 to 2014 were analyzed and summarized. Venous blood samples were sent to Guangzhou Jinyu Medical Examination Center for genetic analysis. Peripheral blood DNA was extracted and amplified, then sent to a sequencing facility for presence of genetic mutation by comparing with the reference sequence (NC_012920.1). RESULT: (1) The first @entity1 was a 7 months old @entity1 . The second @entity1 was a 7 months and 21 days old @entity1 . They were presented with abnormal respiration and @entity548 required mechanical ventilation. The first @entity1 had a similar attack after 4 months of his birth, whose psychomotor development was normal, and no abnormal neurological findings. The value of blood @entity880 was 1.58 mmol/L. The value of @entity2388 was 0.25 mmol/L. The value of cerebrospinal fluid @entity880 was 6. 4 mmol/L, which was an abnormal increase. The second @entity1 had abnormal nervous system development, which included motor development retardation and @entity2421 . The value of blood @entity880 was 6. 8 mmol/L, @entity2388 was 0.31 mmol/L. Cerebrospinal fluid @entity880 was 8.2 mmol/L. (2) Imaging data: chest X-ray revealed @entity358 . Bilateral caudate nucleus and lentiform nucleus had high signal, and bilateral internal capsule forelimbs were affected in DWI sequence of head MRI. Hemispheres, basal ganglia, cerebral peduncle, cerebellum, pons, and splenium of corpus callosum had multiple abnormal signals in head MRI of the second @entity1 . @entity14728 peak showed significantly reduced lesion area in magnetic resonance blood-flow scanning, and Cho peak increased significantly, which were double @entity880 -peak. (3) Genetic testing: @entity26560 @entity70074 mutation was found in case 1 that was consistent with @entity8433 pathogenesis. Hybrid mutations ( @entity70075 ) in mitochondrial DNA was found in case 2. Two cases with the diagnosis of @entity8433 was clear. They were given combined therapy, such as mechanical ventilation, limited fluid to alleviate lung exudation, @entity7447 , and @entity6211 . The illness of case 1 relapsed after discharge. But in case 2, there was no improvement. They both died after treatment was given up. CONCLUSION: Neurological symptoms were common in @entity8433 , in which @entity548 was rarely reported. Timely ventilator support can temporarily save lives, but fatality rate is high and prognosis is poor.

[Clinical characteristics and genetic analysis of two cases with XXXX with @entity548 as predominant manifestation].

@entity1 :: ('9606', 'Species') :: ['girl', 'Children', 'patient', 'boy'] @entity548 :: ('MESH:D006470', 'Disease') :: ['pulmonary hemorrhage', 'acute lung hemorrhage'] @entity3126 :: ('MESH:D011654', 'Disease') :: ['emergent pulmonary edema'] @entity6211 :: ('MESH:D002331', 'Chemical') :: ['L-carnitine'] @entity14728 :: ('CHEBI:32918', 'Chemical') :: ['NAA'] @entity8433 :: ('MESH:D007888', 'Disease') :: ['Leigh syndrome'] @entity2421 :: ('MESH:D009123', 'Disease') :: ['hypotonia'] @entity358 :: ('MESH:D008171', 'Disease') :: ['double lung effusion'] @entity880 :: ('MESH:D019344', 'Chemical') :: ['lactate'] @entity26560 :: ('4508', 'Gene') :: ['ATPase6'] @entity7447 :: ('MESH:C024989', 'Chemical') :: ['coenzyme Q10'] @entity70075 :: ('m|SUB|T|10191|C', 'DNAMutation') :: ['m. 10191 t > C'] @entity70074 :: ('m|SUB|T|9185|C', 'DNAMutation') :: ['m.9185 t > C'] @entity2388 :: ('MESH:D019289', 'Chemical') :: ['pyruvic acid']
@entity8433 :: (MESH:D007888,Disease) :: ['Leigh syndrome']
