Case Report: A New Spectroscopy Finding in Infantile Neuroaxonal Dystrophy
| Autor: | Archana Desurkar, Natasha Redhead, Andrew Martin, Paul A. Armitage, Saharwash Jamali, Daniel J. A. Connolly |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Imaging Feature Pathology medicine.medical_specialty Creatinine medicine.diagnostic_test business.industry 030105 genetics & heredity medicine.disease Infantile neuroaxonal dystrophy 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine nervous system chemistry Pediatrics Perinatology and Child Health Female patient Basal ganglia Cerebellar vermis medicine Neurology (clinical) business 030217 neurology & neurosurgery Genetic testing |
| Zdroj: | Journal of Pediatric Neurology. 17:180-183 |
| ISSN: | 1875-9041 1304-2580 |
| DOI: | 10.1055/s-0038-1666797 |
| Popis: | Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive disorder that is associated with developmental delay and regression. A female patient of consanguineous parents presented with gross motor delay at 15 months. She was known to have two paternal uncles who had died with a diagnosis of INAD. Over the next 15 months, she exhibited regression in several domains and following genetic testing was diagnosed with a PLA2G6 mutation in keeping with INAD. The cerebellar vermis demonstrated a significant reduction in the N-acetylaspartate/creatinine (NAA/Cr) ratio of 0.69. This case highlights what we believe to be a new imaging feature of a low NAA/Cr ratio in the cerebellar vermis with normal ratios in the cerebellar hemispheres and basal ganglia in a patient with genetically confirmed diagnosis of INAD. |
| Databáze: | OpenAIRE |
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