Öz
The mitochondrial cytopathies in children are clinically and genetically heterogeneous group of disorders leading to involvement of nervous system and other organ systems. Subacute necrotizing encephalomyelopathy, called Leigh Disease is a type of these disorders. The serum lactate level was determined high ata nine month old male infant admitted with growth retardation. The cranial magnetic resonance imaging showed high signal intensities on mesencephalon and periaquaductal localization of the posterior pons. The patient was diagnosed as subacute necrotizing encephalomyelopathy (Leigh Disease) with these findings. We reported this rare case to remind mitochondrial cytopathies in the differential diagnosis of neuromotor growth retardation.
Anahtar Kelimeler
Kaynakça
- Michael V.Johnson, Encephalopathies. In: Behrman RE, Kliegman RM, Jenson HB(eds). Textbook of Pediatrics, (17th edition). Phildelphia: WB Saunders, 2004: 2025-2027
- John Christodoulou, Inborn Errors of Metabolism. In: Abraham M. Rudolph, Robert Kamei, Kim Overby(eds); Rudolptis Fundamentals of Pediatrics, (3th edition). McGraw-Hill, 2002: 221-252
- Mehndiratta MM, Aggarwal P.Neurological mitochondrial cytopathies in children Indian Pediatr 2000 ;37(11):1175-1179
- Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW et al. Leigh syndrome: Clinical features and biochemical and DNA abnormalities. Ann Neurol. 1996; 39:343-351
- Salviati L, Freehauf C, Sacconi S, DiMauro S, Thoma J, Tsai AC. Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome. Am J Med Genet A. 2004; 15:128(2):195-198
- Valanne L, Ketonen L, Majander A, Suomalainen A, Pihko H. Neuroradiologic findings in children with mitochondrial disorders. AJNR Am J Neuroradiol. 1998;19(2):369-377
- Topçu M, Saatçi I, Apak A, Söylemezoğlu F, Akçören Z. Leigh Syndrome in a 3-Year-Old Boy with Unusual Brain MR Imaging and Pathologic Findings. AJNR Am J Neuroradiol 2000; 21:224-227
- Barkovich AJ, Good WV, Koch TK, Berg BO. Mitochondrial disorders: analysis of their clinical and imaging characteristics. Am AJNR J Neuroradiol. 1993;14(5):1119-1137
- Ghosh D, Pradhan S. Antemortem diagnosis of Leigh's disease: role of magnetic resonance studies. Indian J Pediatr. 1996; 63(5):683-689
Öz
Çocuklarda mitokondrial sitopatiler, Minik ve genetik olainkfarkklık gösteren, sinir sistemi ve diğer organları tutabilen heterojen bir grup hastalıktır. Subakut nekrotizan ensefalomyelopati de denen Leigh Hastalığı bunların bir tipidir. Büyüme gelişme geriliği ile başvuran dokuz aylık erkek hastanın serum laktat düzeyi yüksek tespit edildi. Kranial magnetik rezonans görüntülemesinde beyin sapında mezensefalon ve pons posterior bölümde periaquaduktal lokalizasyonda nekroz alanları ve mezensefalonda sinyal artımları olan hastaya subakut nekrotizan ensefalomyelopati (Leigh hastalığı) tanısı kondu. Bu olguyu nöromotor gelişme geriliğiyle başvuran hastalarda ayırıcı tanıda nörolojik mitokondrial hastalıkların da akla gelmesi açısından sunmayı amaçladık.
Anahtar Kelimeler
Kaynakça
- Michael V.Johnson, Encephalopathies. In: Behrman RE, Kliegman RM, Jenson HB(eds). Textbook of Pediatrics, (17th edition). Phildelphia: WB Saunders, 2004: 2025-2027
- John Christodoulou, Inborn Errors of Metabolism. In: Abraham M. Rudolph, Robert Kamei, Kim Overby(eds); Rudolptis Fundamentals of Pediatrics, (3th edition). McGraw-Hill, 2002: 221-252
- Mehndiratta MM, Aggarwal P.Neurological mitochondrial cytopathies in children Indian Pediatr 2000 ;37(11):1175-1179
- Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW et al. Leigh syndrome: Clinical features and biochemical and DNA abnormalities. Ann Neurol. 1996; 39:343-351
- Salviati L, Freehauf C, Sacconi S, DiMauro S, Thoma J, Tsai AC. Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome. Am J Med Genet A. 2004; 15:128(2):195-198
- Valanne L, Ketonen L, Majander A, Suomalainen A, Pihko H. Neuroradiologic findings in children with mitochondrial disorders. AJNR Am J Neuroradiol. 1998;19(2):369-377
- Topçu M, Saatçi I, Apak A, Söylemezoğlu F, Akçören Z. Leigh Syndrome in a 3-Year-Old Boy with Unusual Brain MR Imaging and Pathologic Findings. AJNR Am J Neuroradiol 2000; 21:224-227
- Barkovich AJ, Good WV, Koch TK, Berg BO. Mitochondrial disorders: analysis of their clinical and imaging characteristics. Am AJNR J Neuroradiol. 1993;14(5):1119-1137
- Ghosh D, Pradhan S. Antemortem diagnosis of Leigh's disease: role of magnetic resonance studies. Indian J Pediatr. 1996; 63(5):683-689
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Makaleler |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Şubat 2006 |
| Yayımlandığı Sayı | Yıl 2006 Cilt: 37 Sayı: 1 |