Open AccessAdult-onset Leigh′s disease: A rare entity
Author(s) -
Shaik Afshan Jabeen,
G Sandeep,
Kandadai Rukmini Mridula,
A K Meena,
Rupam Borgohain,
Sundaram Challa
Publication year - 2016
Publication title -
annals of indian academy of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.427
H-Index - 31
eISSN - 1998-3549
pISSN - 0972-2327
DOI - 10.4103/0972-2327.175437
Subject(s) - medicine , pediatrics , rare disease , leigh disease , disease , pathology , biochemistry , chemistry , mitochondrial dna , gene
Leigh syndrome (LS) is a heterogeneous familial or sporadic neurodegenerative disorder. It is typically seen in infancy or childhood, although rare cases of adult onset have been described. The authors describe a 37-year-old woman who presented with protracted gastrointestinal symptoms followed by acute brain stem syndrome with severe metabolic acidosis and who subsequently showed dramatic clinical and neuroradiological improvement.