Back
Year : 2018 | Volume : 6 | Issue : 3 | Page : 107 - 109  


Case Reports
Leighs disease: powerhouse failure

Himanshu Dua 1, Radhika Mantry 2

1 Assistant Professor, 2 Junior Resident, Department of Pediatrics, NKP Salve Institute Of Medical Sciences and Research Centre, Digdoh Hills, Hingna Road, Nagpur, Maharashtra

Corresponding Author:

Dr. Radhika Mantry

Email: radhika.mantry@gmail.com

Abstract:

Leigh disease, also known as juvenile sub acute necrotizing encephalomyelopathy, Leigh syndrome, infantile sub acute necrotizing encephalomyelopathy, and sub acute necrotizing encephalomyelopathy (SNEM), is a rare inherited neurometabolic disorder that affects the central nervous system. A five months old male child born out of non-consanguineous marriage was in regular follow up with a pediatrician in view of birth history of full term, low birth weight. Records showed steady weight gain with gross motor delay and central hypotonia. 15 days prior to admission, child had rhinorrhea, cough, hoarseness and intermittent stridor which were initially treated with oral medication. Subsequently the child developed fever for which he was admitted and treated with antibiotics. Complete blood count, C reactive protein, blood culture, CSF was normal. X-ray showed hyperinflation. The child then developed features of encephalopathy with myoclonic jerks. In view of history of developmental delay and clinically central hypotonia, with investigations pointing towards non-infective etiology, a possibility of metabolic, structural malformation of brain or mitochondropathy was entertained and accordingly investigated. MRI was suggestive of Leighs Disease and his CSF lactate levels were high. This case is presented to highlight that in case of absence of infection, metabolic encephalopathy or mitochondropathies can be thought as a cause of Encephalopathy

Key words: Leigh disease, necrotizing, infantile





img

Important links

adv apply rec

Open Access Journal

MRIMS Journal of Health Sciences is an open access journal which means that all content is freely available without charge to the user or his/her institution. Users are allowed to read, download, copy, distribute, print, search, or link to the full texts of the articles in this journal without asking prior permission from the publisher of the author. This is in accordance with the BOAI definition of open access.

Visitor Count


299994
© 2018 Chandramma Education society . All Rights Reserved.