A rare mitochondrial disorder: Leigh sydrome - a case report
| Autor: | Gurmeet Singh, Dhananjay Y Shrikhande, MM Aarif Syed, Kunal Ahya, Piyush Kalakoti |
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| Jazyk: | angličtina |
| Rok vydání: | 2010 |
| Předmět: |
Pathology
medicine.medical_specialty Signs and symptoms Case Report Status epilepticus Disease Consanguinity Cerebrospinal fluid Fatal Outcome Neuroimaging Seizures Basal ganglia medicine Humans medicine.diagnostic_test Reflex Abnormal business.industry lcsh:RJ1-570 Brain Infant Magnetic resonance imaging lcsh:Pediatrics Magnetic Resonance Imaging Developmental Milestone Female medicine.symptom Intracranial Hypertension Leigh Disease business |
| Zdroj: | Italian Journal of Pediatrics, Vol 36, Iss 1, p 62 (2010) Italian Journal of Pediatrics |
| ISSN: | 1824-7288 1720-8424 |
| Popis: | 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: | OpenAIRE |
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