Leigh disease: A case report

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

• Leigh Disease,Infant,Male,Diagnosis, Differential

Leigh hastalığı: Olgu sunumu

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

• Leigh hastalığı,Süt çocuğu,Erkek,Tanı, ayırıcı

Kaynakça

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