scholarly journals Association of a point mutation (m.9176T>G) of the MT-ATP6 gene with Leigh syndrome: A case report

2020 ◽  
Vol 7 (5) ◽  
pp. 3739-3743
Author(s):  
Rozhgar A. Khailany ◽  
Naser Gilani ◽  
Mehmet Ozaslan ◽  
Muhamad Safdar ◽  
Ihsan Al-Shamari ◽  
...  
Keyword(s):  
Case Report ◽  
Respiratory Failure ◽  
High Resolution ◽  
Mitochondrial Disorder ◽  
Failure To Thrive ◽  
Leigh Syndrome ◽  
High Resolution Melt ◽  
Number Of Patients ◽  
Atp6 Gene ◽  
The Family

Leigh Syndrome (LS) is an uncommon progressive neurodegenerative mitochondrial disorder. The condition is characterized by progressive mental and developmental disabilities (psychomotor regression) and commonly brings about death within a few years of diagnosis, more often due to respiratory failure. In a small number of patients the disorder does not manifest until adulthood. The principal indications of Leigh syndrome found in early stages typically are diarrhea, vomiting, and difficulty swallowing (dysphagia), which disturbs eating. These problems usually result in powerlessness to develop and put on weight under the normal rate (failure to thrive). Serious movement and muscle problems are basic in Leigh syndrome. In this case report, we introduce the molecular and clinical features of a 19-year-old female as proband, and also, we study other members of the family consequently. The m.9176T>G heteroplasmic mutation in the MT-ATP6 gene was detected by high-resolution melt (HRM) and DNA sequencing techniques. Similarly, the m.9176T>G was heteroplasmic in the mother. In conclusion, this report in compliance with previous studies underlines the necessity of further research on prenatal distinguishing proof of the responsible mutations and avoidance of the disease in families with known cases.  

scholarly journals Case Report: m.13513 G>A Mutation in a Chinese Patient With Both Leigh Syndrome and Wolff-Parkinson-White Syndrome

2021 ◽  
Vol 9 ◽  
Author(s):  
Jian-Min Liang ◽  
Cui-Juan Xin ◽  
Guang-Liang Wang ◽  
Xue-Mei Wu
Keyword(s):  
Mitochondrial Dna ◽  
Case Report ◽  
Respiratory Failure ◽  
Developmental Delay ◽  
Nuclear Dna ◽  
Leigh Syndrome ◽  
Chinese Patient ◽  
White Syndrome ◽  
Wpw Syndrome ◽  
Wolff Parkinson White Syndrome

A number of causative mutations in mitochondrial and nuclear DNA have been identified for Leigh syndrome, a neurodegenerative encephalopathy, including m. 8993 T>G, m.8993 T>C, and m.3243A>G mutations in the MTATP6, MTATP6, and MT-TL1 genes, respectively, which have been reported in Leigh syndrome patients in China. The m.13513 G>A mutation has been described only a few times in the literature and not previously reported in China. Here we report the case of a 15-month-old boy who presented with ptosis and developmental delay and was diagnosed with Leigh syndrome and well as Wolff-Parkinson-White (WPW) syndrome. The m.13513 G>A mutation was found in DNA from blood. He was intubated due to respiratory failure and died at 23 months of age. The m.13513 G>A mutation in the ND5 gene of mitochondrial DNA is associated with Leigh syndrome and WPW syndrome; however, this is the first report of this mutation in a patient in China, highlighting the geographical and racial variability of Leigh syndrome.

scholarly journals Advances in Diagnosis of Mitochondrial Diseases: Case Report of an Infant with Pearson Syndrome

2021 ◽  
pp. 218
Author(s):  
◽  
Keyword(s):  
Bone Marrow ◽  
Case Report ◽  
Molecular Genetic ◽  
Mitochondrial Disorder ◽  
Macrocytic Anemia ◽  
Mitochondrial Diseases ◽  
Failure To Thrive ◽  
Pearson Syndrome ◽  
Delay In Diagnosis ◽  
Medical Histories

Pearson syndrome (PS) is a mitochondrial disorder that presents in early infancy as a multisystemic disease affecting the bone marrow and pancreas. It may present with anemia, diarrhea, exocrine pancreatic dysfunction, and failure to thrive.[1] Delay in diagnosis can lead to severe morbidity and mortality in infancy. We report the case of a 9-month-old presenting with failure to thrive, severe macrocytic anemia and pancytopenia initially thought to have gastroesophageal reflux and feeding intolerance. Severe macrocytic anemia and pancytopenia prompted an early bone marrow evaluation. Abnormal bone marrow findings including vacuolated marrow precursors and ringed sideroblasts along with persistent mild lactic acidosis led to a rapid and extensive genetics workup. Whole exome sequencing including mitochondrial genome sequencing detected a 2.3 kb heteroplasmic deletion in m.12113_14421 encompassing the MT-ND5 gene consistent with the diagnosis of Pearson Syndrome. This case report highlights the advances in molecular genetic testing to diagnose patients with complex medical histories along the spectrum of mitochondrial diseases and the importance of early diagnosis to start treatment.

A case report on a novel MT-ATP6 gene variation in atypical mitochondrial Leigh syndrome associated with bilateral basal ganglia calcifications

Mitochondrion ◽  
2019 ◽  
Vol 46 ◽  
pp. 209-213 ◽  
Author(s):  
Arshia Angural ◽  
Indu Sharma ◽  
Pranav Pandoh ◽  
Varun Sharma ◽  
Akshi Spolia ◽  
...  
Keyword(s):  
Case Report ◽  
Basal Ganglia ◽  
Leigh Syndrome ◽  
Gene Variation ◽  
Atp6 Gene

Leigh Syndrome: typical phenotype but atypical mitochondrial mutation – a case report

2010 ◽  
Vol 41 (02) ◽  
Author(s):  
K Lengnick ◽  
O Hasselmann ◽  
R Horváth ◽  
B Schoser ◽  
J Mayr ◽  
...  
Keyword(s):  
Case Report ◽  
Leigh Syndrome ◽  
Mitochondrial Mutation

Case Report: Hemoptysis localization – hearing with your eyes

POCUS Journal ◽  
2016 ◽  
Vol 1 (2) ◽  
pp. 7
Author(s):  
Barry Chan, MD
Keyword(s):  
Case Report ◽  
Respiratory Failure ◽  
Hemodynamic Instability ◽  
Clinical Vignette ◽  
Massive Hemoptysis ◽  
Airway Patency ◽  
Peripheral Site ◽  
Adventitious Sound

Clinical Vignette: 45 year old was transferred from a peripheral facility for acute massive hemoptysis though maintained sufficient airway patency with no evidence of hemodynamic instability or respiratory failure. Thoracic auscultation revealed vesicular breathing with no adventitious sound. CXR from the peripheral site was normal.

scholarly journals Asymptomatic mediastinal extra-adrenal paraganglioma as a cause of sudden death: a case Report

2019 ◽  
Vol 14 (1) ◽  
pp. 564-567
Author(s):  
Qiancheng Xu ◽  
Yingya Cao ◽  
Hongzhen Yin ◽  
Rongrong Wu ◽  
Tao Yu ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Case Report ◽  
Respiratory Failure ◽  
Pressure Drop ◽  
Thoracic Cavity ◽  
Severe Hypotension ◽  
Life Threatening ◽  
History Of ◽  
Posterior Mediastinal ◽  
Extra Adrenal Paraganglioma

AbstractA 23-year-old female patient was referred for treatment of a posterior mediastinal tumour. There was no history of hypertension or headache and no other complaints. The patient’s blood pressure increased to 210/125 mmHg after surgically manipulating the tumour, subsequently reversing to severe hypotension (25/15 mmHg) immediately after the tumour was removed. The life-threatening and irreversible blood pressure drop was difficult to treat with fluid and vasopressors, and the patient ultimately died of cardio-respiratory failure. Asymptomatic paraganglioma can be non-functional but can also be fatal. For any lump in the thoracic cavity, paraganglioma should be ruled out.

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