MELAS Syndrome: An Uncommon Mitochondrial Inheritance
Journal Title: Scholars Journal of Medical Case Reports - Year 2014, Vol 2, Issue 3
Abstract
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) syndrome is a progressive neurodegenerative disorder caused by mutations in the genes in the mitochondrial DNA. In most cases, the signs and symptoms of this disorder appear in childhood following a period of normal development. A 2 year old female child with global developmental delay presented with trauma to the paediatric OPD. On examination patient showed signs of microcephaly, hypotonia, reduced reflexes and abnormal vision. The child was hospitalized to evaluate reduced reflexes. Audiology evaluation reported affected receptive and expressive language. Low hemoglobin, elevated lactate: pyruvate ratio, reduced bicarbonate levels were found. Arterial blood gases analysis revealed metabolic acidosis.MRI of the brain showed acute infarction in basal ganglia and internal capsule. Based on the clinical and laboratory evaluation, patient was diagnosed as MELAS syndrome. Along with symptomatic treatment, Biotin and Coenzyme Q were supplemented to which patient responded progressively, thereby substantiating the diagnosis. Keywords: MELAS, lactate: pyruvate, Mitochondrial inheritance, Neurodegeneration
Authors and Affiliations
Alap Christy, Rukmini MS, Poornima Manjrekar, Ruby P. Babu
Keywords
Related Articles
- EP ID EP376005
- DOI -
- Views 75
- Downloads 0
Breast Carcinoma in Thyroid Cancer Survivors
Abstract:Women with a history of thyroid carcinoma have a greater than expected risk of developing breast carcinoma. This risk is most pronounced in premenopausal white women, who have received treatment for thyroid canc...
Synovial Sarcoma -A Very Rare Chest wall Tumor
Abstract: An 18 Year old girl presented to the thoracic surgery department with a left sided chest wall swelling of 10 years duration. On physical examination the lesion appeared to be a benign lesion. The patient was in...
Heterotopic Pregnancy: A Diagnostic Dilemma to Suspect More Often
A heterotopic pregnancy is a phenomenon of co-existing intrauterine and ectopic pregnancies. Heterotopic pregnancies are diagnostic and therapeutic challenges for obstetricians. Incidence is more with Assisted Reproducti...
A Favorable Outcome in a Patient with Descending Mediastinitis Who Was Treated By Intensive Care Including Tracheostomy
Abstract: An 84-year-old woman became unconscious and febrile after complaining of general pain. Her past history included gastrectomy for gastric cancer, hypertension, cerebral infarction and femur fracture; however, sh...
A Calcaneal Osteochondroma an Atypical Localization
Abstract:Calcaneal osteochondroma is extremely rare, less than 1%osteochondromas which arise from tarsal bone. We are reporting a case of osteochondroma of calcaneum in a 33years old male who presented with chief complai...