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| Year : 2005 | Volume
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| Issue : 2 | Page : 217-219 |
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| Leigh's disease (subacute necrotising encephalo-myelopathy)-a case report |
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AG Hombal, VN Narvekar
Department of Radio-Diagnosis and Imaging, J.J.M. Medical College, Davangere-577004, Karnataka, India
Click here for correspondence address and email
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Keywords: Leigh′s, Encephalomyelopathy , Putamina, Midbrain
How to cite this article:
Hombal A G, Narvekar V N. Leigh's disease (subacute necrotising encephalo-myelopathy)-a case report. Indian J Radiol Imaging 2005;15:217-9 |
How to cite this URL:
Hombal A G, Narvekar V N. Leigh's disease (subacute necrotising encephalo-myelopathy)-a case report. Indian J Radiol Imaging [serial online] 2005 [cited 2021 Jan 22];15:217-9. Available from: https://www.ijri.org/text.asp?2005/15/2/217/28806 |
 Introduction | |  |
Leigh's disease or Sub-acute necrotising encephalomyelopathy (SNE) is a rare neurodegenerative disorder of childhood that was first described by Leigh in 1951 [1].
It is possible to come to a diagnosis of probable SNE during life on the basis of clinical signs and symptoms, mode of inheritance, metabolic abnormalities, and neuroimaging findings [2]. We report a rare case of Leigh's disease diagnosed on CT and MRI and discuss the role of imaging in its diagnosis.
| Case report | | |
A three year old girl presented with regression of the achieved milestones, generalized weakness and involuntary movements for the past three months. Clinical examination revealed the child had concomitant and convergent squint. CNS examination showed increased tone in the lower limbs, bilateral extensor plantar reflexes and intentional tremors. Laboratory analysis showed metabolic acidosis.
The CECT scan showed bilaterally symmetrical non-enhancing low attenuating lesions in the putamina [Figure - 1]. MRI studies showed bilaterally, symmetrical lesions in the putamina, which were hypointense on T1 weighted and hyperintense T2 weighted images. [Figure - 2][Figure - 3]. The peri-aqueductal grey matter and dentate nuclei of the cerebellum were also involved and showed the similar signal characteristics [Figure - 4][Figure - 5]. Based on the clinical features and imaging findings, a diagnosis of Leigh's disease or SNE was made.
| Discussion | | |
Leigh's disease or SNE is a rare progressive neurological disorder of the childhood. It is usually inherited in an autosomal recessive fashion, and the underlying defect can be at any of a number of sites in the enzyme pathway for respiratory metabolism. Associated mitochondrial enzyme deficiencies are pyruvate carboxylase, pyruvate dehydrogenase, cytochrome C oxidase, and Complex 1 (NAD-Coenzyme Q Reductase) deficiencies [3],[4]. The pathology of SNE is characterized by capillary proliferation with bilaterally symmetric gray and white matter necrosis, spongiform degeneration or vacuolization and demyelination [3],[5].
It presents early in life with psychomotor regression, abnormal muscle tone, weakness, dystonia, brainstem and cerebellar dysfunction (ataxia), visual loss, missed milestones or regression of the achieved milestones, tachypnea, and seizures [1],[3],[6]. Age of onset of symptoms is usually less than 2 years (infantile form), but others may present in childhood (juvenile form) and unusually in adulthood. Death usually occurs within a few years after onset of symptoms, typically from progressive respiratory failure [4],[5]. Laboratory analysis shows metabolic acidosis with elevated blood, CSF lactate, and pyruvate concentrations [3].
The lesions are seen as non-enhancing hypodensities on CT. Low attenuation in the putamina on CT is considered to be characteristic of the disease [5],[7]. MR imaging shows bilateral areas of abnormal high signal intensity on T2 weighted images in the basal ganglia, periventricular white matter, corpus callosum, peri-aqueductal grey matter and brainstem [3],[5],[6]. In the basal ganglia, the putamen is particularly involved. In one series, 100% of the patients with proven SNE had putaminal involvement [3].
Proton spectroscopy has demonstrated elevated brain lactate levels in the basal ganglia, occipital cortex, and brainstem. This abnormality was greatest at sites of abnormal signal intensity on T2-weighted images [8].
The diagnosis of Leigh's disease should be considered in appropriate clinical and laboratory settings whenever symmetrical hypodensities are encountered in the putamina and midbrain on CT and further investigated with MRI, which is more sensitive than CT in establishing an antemortem diagnosis of Leigh's disease.
| References | | |
| 1. | Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 1951;14:216.  [PUBMED] |
| 2. | van Erven PM, Cillessen JP, Eekhoff EM, et al. Leigh syndrome, a mitochondrial encephalo (myo)pathy. A review of the literature. Clin Neurol Neurosurg 1987;89:217-230. |
| 3. | Medina L, Chi T, DeVivo D, et al. MR findings in patients with subacute necrotizing encephalomyelopathy (Leigh syndrome): correlation with biochemical defect. AJNR 1990;11:379-384. |
| 4. | Barkovich AJ. Toxic and metabolic brain disorders. In: Pediatric Neuroimaging. New York: Raven Press; 1995:55-106. |
| 5. | Geyer CA, Sartor KJ, Prensky AJ, et al. Leigh disease (subacute necrotizing encephalomyelopathy): CT and MR in five cases. J Comput Assist Tomogr 1988;12:40-44. [PUBMED] |
| 6. | Davis PC, Hoffman JC Jr., Braun IF, et al. MR of Leigh's disease (subacute necrotizing encephalomyelopathy). AJNR 1987;8:71-75. |
| 7. | Palteil HJ, O'Gorman AM, Meagher-Villemure K, et al. Subacute necrotizing encephalomyelopathy (Leigh disease): CT study. Radiology 1987;162:115-118. |
| 8. | Detre J, Wang Z, Bogdan A, et al. Regional variation in brain lactate in Leigh syndrome by localized H magnetic resonance spectroscopy. Ann Neurol 1991;29:218-221. |
Correspondence Address:
A G Hombal
Room no 135, New PG Hostel for Men, MCC B Block, Davangere - 577 004
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0971-3026.28806
Figures
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5] |
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