CLINICAL AND PARACLINICAL STUDY OF MITOCHONDRIAL ENCEPHALOMY OPATHIES IN MOFID CHILDREN'S HOSPITAL

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ASHRAFI M.R.; GHOFRANI M.; GHOUJEHVAND N.

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

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Journal: Research in Medicine Year:2002 | Volume:26 | Issue:3 Page(s): 153-157

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Title

CLINICAL AND PARACLINICAL STUDY OF MITOCHONDRIAL ENCEPHALOMY OPATHIES IN MOFID CHILDREN'S HOSPITAL

Author(s)

ASHRAFI M.R. | GHOFRANI M. | GHOUJEHVAND N. | Issue Writer Certificate

Keywords

MITOCHONDRIAL DISEASEQ4

ENCEPHALOPATIESQ4

LEIGH SYNDROMEQ3

Abstract

Background: Mitochondrial encephalomyopathies encompass a group of neurologic degenerative disease that occurs due to mitochondrial metabolism disorders.Materials and methods: During a two-year period (September 1999-August 2001), 62 patients with the probable diagnosis of mitochondrial disorders who have been admitted in neurology department of Mofid children's Hospital were evaluated for clinical and paraclinical findings. Results: The study population included 36 boys and 26 girls, with the mean age of 39.6±37.8 months. Thirty-seven cases became symptomatic during the first 12-month of their life. No triggering factor was found in 43 cases, however, infections were the most common triggering factor in the remainders and were established in 10. The most frequent neurologic findings were developmental regression (87.5%), seizure (72.6%), and abnormal tone (71%). The major biochemical findings were blood lactate elevation in 58 and blood ammonia elevation in 21. The most common neuroimaging findings were brain atrophy (66.1 %), white matter involvement (45.1%), and symmetric bilateral basal ganglia necrosis (33.9%). LEIGH SYNDROME was by far the most prevalent specific syndrome that was observed in 15 patients. Young age of onset and the appearance of developmental arrest or regression has shown to be statistically significant. Conclusion: Mitochondrial encephalomyopathies have a wide range of neurologic manifestations. Blood lactate level is a valuable test in whom the diagnosis is uncertain.

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APA: Copy

ASHRAFI, M.R., GHOFRANI, M., & GHOUJEHVAND, N.. (2002). CLINICAL AND PARACLINICAL STUDY OF MITOCHONDRIAL ENCEPHALOMY OPATHIES IN MOFID CHILDREN'S HOSPITAL. PAJOUHESH DAR PEZESHKI, 26(3), 153-157. SID. https://sid.ir/paper/42092/en

Vancouver: Copy

ASHRAFI M.R., GHOFRANI M., GHOUJEHVAND N.. CLINICAL AND PARACLINICAL STUDY OF MITOCHONDRIAL ENCEPHALOMY OPATHIES IN MOFID CHILDREN'S HOSPITAL. PAJOUHESH DAR PEZESHKI[Internet]. 2002;26(3):153-157. Available from: https://sid.ir/paper/42092/en

IEEE: Copy

M.R. ASHRAFI, M. GHOFRANI, and N. GHOUJEHVAND, “CLINICAL AND PARACLINICAL STUDY OF MITOCHONDRIAL ENCEPHALOMY OPATHIES IN MOFID CHILDREN'S HOSPITAL,” PAJOUHESH DAR PEZESHKI, vol. 26, no. 3, pp. 153–157, 2002, [Online]. Available: https://sid.ir/paper/42092/en

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