Journal of Child

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Research Article


DOI :10.5222/j.child.2010.094   IUP :10.5222/j.child.2010.094    Full Text (PDF)

Leigh’s Syndrome Presenting with Encephalopathy

Atiye Fedakar, Belma Haliloğlu

Leigh’s Syndrome is a subacute necrotizing encefalomyelopathy characterized by capillary proliferation, necrosis, gliosis, demyelinisation of brain, spinal cord, medulla oblongata, pons and mesencephalon. It’s caused by a deficiency in mitochondrial respiratory enzyme cycles or deficiency of an enzyme called pyruvate dehydrogenase. Usually infantile type is seen but childhood and adult types are present too. Genetic inheritance is heterogenic due to biochemical deficiency. Seizures, abnormal eye movements, intermittent ataxia, hypotonia, growth disorder, and some nonspecific findings; lethargy, lack of feeding, tachypnea due to increased lactate are some of the clinical findings. We emphasized that, even if metabolic screening test results are normal, inherited metabolic diseases as seen in our case should be kept in mind.

Keywords: Leigh’s syndrome, encephalopathy, metabolic diseases
DOI :10.5222/j.child.2010.094   IUP :10.5222/j.child.2010.094    Full Text (PDF)

Ensefalopati Tablosuyla Gelen Leigh Sendromu

Atiye Fedakar, Belma Haliloğlu

Leigh sendromu mitokondriyal respiratuvar enzim zincirindeki kusur veya piruvat dehidrogenaz kompleksindeki yetersizlik sonucu beyin, beyin sapı ve omurilikte demyelinizasyon, gliozis, nekroz ve kapiller proliferasyonla karakterize bir subakut nekrotizan ensefalomyelopati tablosudur. Çoğunlukla infantil tipi görülmekle beraber çocukluk ve erişkin tipleri de bulunmaktadır. Genetik geçiş biyokimyasal defekte göre heterojenite gösterir. Klinik bulguları arasında artmış laktata bağlı letarji, beslenme azlığı, taşipne gibi nonspesifik bulgular, gelişme geriliği, hipotoni, intermittan ataksi, anormal göz hareketleri ve nöbetler yer alır. Bu yazıda ensefalopati tablosuyla başvuran Leigh sendromu tanısı alan 3 aylık bir vakamızda olduğu gibi özellikle sütçocukluğu döneminde metabolik tarama normal gelse bile doğumsal metabolik hastalıkların akıldan çıkarılmaması gerektiğini vurgulamak istedik.

Keywords: Leigh’s sendromu, ensefalopati, metabolik hastalık

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References

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APA

Fedakar, A., & Haliloğlu, B. (2010). Leigh’s Syndrome Presenting with Encephalopathy. Journal of Child, 10(2), 94-97. https://doi.org/10.5222/j.child.2010.094


AMA

Fedakar A, Haliloğlu B. Leigh’s Syndrome Presenting with Encephalopathy. Journal of Child. 2010;10(2):94-97. https://doi.org/10.5222/j.child.2010.094


ABNT

Fedakar, A.; Haliloğlu, B. Leigh’s Syndrome Presenting with Encephalopathy. Journal of Child, [Publisher Location], v. 10, n. 2, p. 94-97, 2010.


Chicago: Author-Date Style

Fedakar, Atiye, and Belma Haliloğlu. 2010. “Leigh’s Syndrome Presenting with Encephalopathy.” Journal of Child 10, no. 2: 94-97. https://doi.org/10.5222/j.child.2010.094


Chicago: Humanities Style

Fedakar, Atiye, and Belma Haliloğlu. “Leigh’s Syndrome Presenting with Encephalopathy.” Journal of Child 10, no. 2 (Nov. 2024): 94-97. https://doi.org/10.5222/j.child.2010.094


Harvard: Australian Style

Fedakar, A & Haliloğlu, B 2010, 'Leigh’s Syndrome Presenting with Encephalopathy', Journal of Child, vol. 10, no. 2, pp. 94-97, viewed 15 Nov. 2024, https://doi.org/10.5222/j.child.2010.094


Harvard: Author-Date Style

Fedakar, A. and Haliloğlu, B. (2010) ‘Leigh’s Syndrome Presenting with Encephalopathy’, Journal of Child, 10(2), pp. 94-97. https://doi.org/10.5222/j.child.2010.094 (15 Nov. 2024).


MLA

Fedakar, Atiye, and Belma Haliloğlu. “Leigh’s Syndrome Presenting with Encephalopathy.” Journal of Child, vol. 10, no. 2, 2010, pp. 94-97. [Database Container], https://doi.org/10.5222/j.child.2010.094


Vancouver

Fedakar A, Haliloğlu B. Leigh’s Syndrome Presenting with Encephalopathy. Journal of Child [Internet]. 15 Nov. 2024 [cited 15 Nov. 2024];10(2):94-97. Available from: https://doi.org/10.5222/j.child.2010.094 doi: 10.5222/j.child.2010.094


ISNAD

Fedakar, Atiye - Haliloğlu, Belma. “Leigh’s Syndrome Presenting with Encephalopathy”. Journal of Child 10/2 (Nov. 2024): 94-97. https://doi.org/10.5222/j.child.2010.094



TIMELINE


Published Online30.12.2010

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