Hasan AYDIN, VOLKAN KIZILGÖZ, Baki HEKİMOĞLU

Leigh syndrome: Cranial MRI and MR spectroscopy findings

On yaşında kız çocuğu acil ünitesine; nöbet, ellerinde myotonik-klonik kasılmalar, kusma, solunum kaybı ve hafif metabolik asidoz bulguları ile başvurdu. Beyin Manyetik Rezonans Görüntüleme (MRG) ve proton-MR Spektroskopi yapıldı. MRG bulguları; Simetrik bazal ganglion, beyin sapı, sol talamus ve subtalamik çekirdek tutulumu içermekteydi. Bazal ganglion ve talamus lezyonlarından alınan MR Spektroskopi de; artmış laktat ve kolin pikleri, azalmış NAA\Krea and NAA\Kol oranlarını gösterdi. Beyin omurilik sıvısında da artmış aktat mevcuttu. Görüntüleme bulguları ile birlikte klinik süreç ve laboratuar verileride Leigh sendromu genç erişkin tip tanısını desteklediğinden, teşhis için kas biyopsisine gerek duyulmadı.

Leigh sendromu: Beyin MRG ve MR spektroskopi bulguları

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 ganglia and thalamus lesions, showed increased lactate and choline peak, decreased NAA\Crea and NAA\Cho ratios. In the CSF, there was also increased lactate. These imaging findings, clinical course and the laboratory data were used for the diagnosis of Juvenile form of Leigh syndrome. Muscle biopsy wasn’t needed for the diagnosis.

PDF

___

1. Santorelli FM, Mak SC, Vazguez-Memije ME, et al. Clinical heterogenity associated with the mitochondrial DNA T8993C mutation. Pediatr Res 1996; 39: 914-917.
2. Topcu M, Saatci I, Apak A et al. Leigh syndrome in a 3 year old boy with unusual Brain MR Imaging and pathologic findings. AJNR 2000; 21: 221-227.
3. Zeviani M, Fernandez Silva P, Tiranti V. Disorders of mitochondrial and relate metabolism. Curr Opin Neurol 1997; 10: 160-167.
4. Mertens P. Mitochondrial encephalopathies. Seminar in pediatric Neurol 1998; 3: 279-295.
5. Farina L, Chiapparini L, Uziel G et al. MR findings in Leigh syndrome with COX Defiency and SURF-1 mutations. AJNR 2002; 23: 1095-1100.
6. Bowen J, Richards T, Maravilla K. MR imaging and proton MR spectroscopy in A to G substitution at nucleotide position 3243 of leucine transfer RNA. AJNR 1998; 19: 231-234.
7. Ducreux D, Nasser G, Lacroix C et al. MR Diffusion Tensor Imaging, Fiber Tracking and Single-Voxel Spectroscopy Findings in an unusual MELAS case. AJNR 2005; 26: 1840- 1844.
8. Wilson CJ, Wood NW, Leonard JV. Mitochondrial DNA point mutation T 9176 C in Leigh syndrome. J Child Neurol 2000; 15: 830-833.
9. Rahman S, Blok RB, Dahl HHM, et al. Leigh syndrome: Clinical and biochemical and DNA abnormalities. Ann Neurol 1996; 39: 343-351.
10. Greenberg SB, Faerber EN, Riviello JJ et al. Subacute necrotizing encephalomyelopathy (Leigh disease): CT-MRI appearances. Pediatr Radiol 1990; 21: 5-8.
11. Takahashi S, Oki J, Miyamoto A et al. Proton magnetic spectroscopy to study the metabolic changes in the brain of a patient with Leigh syndrome. Brain Dev 1999; 21: 200-204.
12. Barkovich A, Good W, Koch T et al. Mitochondrial disorders: Analysis of their clinical and imaging characteristics. AJNR 1993; 14: 1119-1137.
13. Castillo M, Kwock L, Green C. MELAS syndrome: Imaging and proton MR spectroscopic findings. AJNR 1995; 16: 233- 239.
14. Hsu EW, Aiken NR, Blackband SJ. Nuclear Magnetic resonance microscopy of single neurons under hypotonic perturbation. Am J Physiol 1996; 271: 1895-1900.
15. Vanhecke P, Marchal G, Johannik K, et al. Human Brain proton localized NMR spectroscopy in MS. Magn Reson Med 1991; 18: 199-206.
16. Tsao CY, Mendel JR, Lo WD et al. Mitochondrial respiratory chain defects presenting as non-specific features in children. J Child Neurol 2000; 15: 445-448.
17. Ashrafi MR, Ghofrani M, Ghojevand N. Leigh syndrome: Clinical and paraclinical study. Acta medica Iranica 2002; 40: 236-240.
18. Grodd W, Mann I, Klose U, et al. Metabolic and destructive brain disorders in children: Findings with localized Proton MR spectroscopy. Radiology 1991; 181: 173-181.