A 10 years old girl, was admitted to the intensive care unit with seizure, myotonic-clonic jerks in her hands, vomiting, respiratory failure and mild metabolic acidosis. Brain Magnetic resonance imaging (MRI) and proton MR spectroscopy(MRS) were performed.The MRI findings presented symmetric basal ganglia, brain stem, left thalamus and subthalamic nuclei involvement. MRS obtained from the basal...

Like so many complex and incurable neurological disorders, the disease first described in this journal in 1951 by (Archibald) Denis Leigh (1915–1998; figure 1) as ‘Subacute Necrotising Encephalomyelopathy’ (SNE) remained for many years a rare and intriguing enigma, of interest mainly to paediatric neurologists and neuropathologists. The more recent history of this disorder, now designated Leigh...

Case presentation: The pt. is a 6 year old, 11 kg male who presents to the operating room (O.R.) for direct laryngoscopy/bronchoscopy (DLB) and nasal endoscopy secondary to epistaxis and hemoptysis. His past medical history is significant for prematurity (27 weeks), Leigh syndrome, mitochondrial disease, GERD with chronic lung disease secondary to aspiration pneumonia, right sided pneumatocele,...

Merkezi sinir sistemini etkileyen Leigh sendromu nadir bir kalıtsal nörometabolik bozukluktur. Hastalık genellikle yaşamın birinci yılında ortaya çıkar. sendromlu hastalar solunum yetmezliği, büyümede ve bilişsel gelişmede sorunlar, ensefalopati, hipotoni veya spastisite, nöbetler açısından yüksek risk altındadırlar. Nörolojik belirtiler bebeklik döneminde erken çocukluk başlayabilir, giderek k...