Leigh’s Disease: A case Report
Leigh disease is a progressive degenerative, mitochondrial disorder of childhood with most cases become apparent during infancy. In most cases it presents as a progressive neurological disease with motor and intellectual developmental delay, developmental regression and signs and symptoms of brain s...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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B.J.Medical College Development Society, Ahmedabad
2014-12-01
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| Series: | BJ Kines: National Journal of Basic & Applied Sciences |
| Subjects: | |
| Online Access: | http://bjkines.com/vol6dec14/Paper-8-LeighDiseaseFulltext.pdf |
| Summary: | Leigh disease is a progressive degenerative, mitochondrial disorder of childhood with most cases become apparent during infancy. In most cases it presents as a progressive neurological disease with motor and intellectual developmental delay, developmental regression 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 neuro imaging, 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 3years old male 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’s disease. |
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| ISSN: | 2231-6140 2231-6140 |