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Childhood Myocerebrohepatopathy Spectrum Disorder due to Polymerase Gamma Pathogenic Variant.
- Source :
-
Annals of Indian Academy of Neurology . Nov/Dec2021, Vol. 24 Issue 6, p942-943. 2p. - Publication Year :
- 2021
-
Abstract
- A case study of an eight‑year‑old boy born to consanguineous marriage is brought with developmental delay, recurrent falls, seizures, behavioral abnormality, and unresponsiveness with fever in the last 20 days. Topics include riboflavin and child has a significant improvement in development, which may be due to medications or spontaneous health recovery; and child presenting with developmental delay, and muscle enzymes, a diagnosis of childhood myocerebrohepatopathy should be considered.
- Subjects :
- *THERAPEUTIC use of ubiquinones
*PHYSICAL diagnosis
*FASTING
*VITAMIN B2
*GENETIC mutation
*FEVER
*ELECTROENCEPHALOGRAPHY
*SEQUENCE analysis
*CARNITINE
*NEUROMUSCULAR diseases
*MITOCHONDRIAL pathology
*EPILEPSY
*GENETIC disorders
*DEVELOPMENTAL disabilities
*CREATINE kinase
*LIVER diseases
*TREATMENT effectiveness
*ACCIDENTAL falls
*LACTATES
*BIOTIN
*CONSANGUINITY
*SEIZURES (Medicine)
*ATAXIA
*OCULOMOTOR paralysis
*ASPARTATE aminotransferase
*ALANINE aminotransferase
*CHILDREN
Subjects
Details
- Language :
- English
- ISSN :
- 09722327
- Volume :
- 24
- Issue :
- 6
- Database :
- Academic Search Index
- Journal :
- Annals of Indian Academy of Neurology
- Publication Type :
- Academic Journal
- Accession number :
- 154230871
- Full Text :
- https://doi.org/10.4103/aian.AIAN_607_20