MRI Findings of Leigh Disease (Subacute Necrotizing Encephlo-Myelopathy)—A Rare Case Report

PDF

Published: 2021-12-22

Page: 73-78


Imtiaz Ali Panhwar *

Liaquat National Hospital Karachi, Pakistan.

Rasia Altaf

Liaquat National Hospital Karachi, Pakistan.

Rabiya Siraj

Liaquat National Hospital Karachi, Pakistan.

Bushra Shamim

Liaquat National Hospital Karachi, Pakistan.

Ashok Kumar

Liaquat National Hospital Karachi, Pakistan.

*Author to whom correspondence should be addressed.


Abstract

LEIGH disease is a rare, inherited mitochondrial DNA disorder presenting in infancy and early childhood resulting in death at an early age. It is also known as subacute necrotizing encephalomyelopathy. There is progressive neurodegeneration characteristically of the grey matter nuclei of the cerebellum, diencephalon, basal ganglia and brainstem. Despite the morbidity associated with the disease only few cases have been reported. We therefore present the case of four months old girl who presented with fits and altered level of consciousness, with family history of mitochondrial disorders.  Her workup was done and imaging findings are discussed below. The purpose of this case report is to help the radiologists in the diagnosis of this disease by elaborating the specific features of LEIGH disease.

Keywords: LEIGH disease, MRI, neurodegeneration, subacute necrotizing encephalomyelopathy


How to Cite

Panhwar, I. A., Altaf, R., Siraj, R., Shamim, B., & Kumar, A. (2021). MRI Findings of Leigh Disease (Subacute Necrotizing Encephlo-Myelopathy)—A Rare Case Report. Asian Journal of Medical Case Reports, 3(1), 73–78. Retrieved from https://globalpresshub.com/index.php/AJMCR/article/view/1385

Downloads

Download data is not yet available.

References

Hombal AG, Narvekar VN. Leigh′ s disease (subacute necrotising encephalo-myelopathy)-a case report. Indian Journal of Radiology and Imaging. 2005 Apr;15(02):217-9.

Ronchi D, Cosi A, Tonduti D, Orcesi S, Bordoni A, Fortunato F, Rizzuti M, Sciacco M, Collotta M, Cagdas S, Capovilla G. Clinical and molecular features of an infant patient affected by Leigh Disease associated to m. 14459G> A mitochondrial DNA mutation: A case report. BMC Neurology. 2011 Dec;11(1):1-6.

Malojcic B, Brinar V, Poser C, Djakovic V. An adult case of Leigh disease. Clinical Neurology and Neurosurgery. 2004 Jun 1;106(3):237-40.

Shrikhande DY, Kalakoti P, Syed MA, Ahya K, Singh G. A rare mitochondrial disorder: Leigh syndrome-a case report. Italian Journal of Pediatrics. 2010 Dec;36(1):1-5.

Yamagata T, Yano S, Okabe I, Miyao M, Momoi MY, Yanagisawa M, Hirata H, Komatsu K. Ultrasonography and magnetic resonance imaging in Leigh disease. Pediatric Neurology. 1990 Sep 1;6(5):326-9.

Tsao CY, Herman G, Boué DR, Prior TW, Lo WD, Atkin JF, Rusin J. Leigh disease with mitochondrial DNA A8344G mutation: Case report and brief review. Journal of Child Neurology. 2003 Jan; 18(1):62-4.

Afzal M, Qureshi SM, Rahim A, Iqbal M, Sultan M, Ali S. Leigh disease a rare mitochondrial neurometabolic disorder. PAFMJ. 2008 Jun 30;58(2):229-32.

Cullu N, Karakas E, Karakas O, Deveer M, Calik M, Boyaci FN. Childhood moyamoya disease accompanying Leigh syndrome. JPMA J Pak Med Assoc. 2013 Dec 1;63:1538-40.

Greenberg SB, Faerber EN, Riviello JJ, De Leon G, Capitanio MA. Subacute necrotizing encephalomyelopathy (Leigh disease): CT and MRI appearances. Pediatric Radiology. 1990 Dec;21(1):5- 8.