A rare mitochondrial disorder: Leigh sydrome - a case report

Autor: Shrikhande Dhananjay Y, Kalakoti Piyush, Syed MM Aarif, Ahya Kunal, Singh Gurmeet
Jazyk: angličtina
Rok vydání: 2010
Předmět:
Zdroj: Italian Journal of Pediatrics, Vol 36, Iss 1, p 62 (2010)
Druh dokumentu: article
ISSN: 1824-7288
1720-8424
DOI: 10.1186/1824-7288-36-62
Popis: Abstract Leigh syndrome is a rare progressive neurodegenerative, mitochondrial disorder of childhood with only a few cases documented from India. The clinical presentation of Leigh syndrome is highly variable. However, in most cases it presents as a progressive neurological disease with motor and intellectual developmental delay and signs and symptoms of brain stem and/or basal ganglia involvement. Raised lactate levels in blood and/or cerebrospinal fluid is noted. It is the neuroimaging, mainly the Magnetic Resonance Imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem that leads to the diagnosis. Here, we report a case of 7 months old female child presenting to us with status epilepticus, delayed developmental milestones and regression of the achieved milestones suspected to be a case of neurodegenerative disorder, which on MRI was diagnosed as Leigh syndrome.
Databáze: Directory of Open Access Journals
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