Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl
| Autor: | Marta Romani, Enza Maria Valente, Suvasini Sharma, Himani Bhasin, Sakshi Jain |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Pathology
medicine.medical_specialty media_common.quotation_subject Substantia nigra Case Report Compound heterozygosity PLA2G6 03 medical and health sciences 0302 clinical medicine cerebellar atrophy 030225 pediatrics Magnetic resonance imaging of the brain Medicine PLA2G6-associated neurodegeneration Spasticity Girl Cognitive decline Atypical neuroaxonal dystrophy Neuroaxonal dystrophy media_common medicine.diagnostic_test business.industry General Neuroscience pyramidal signs Pediatrics Perinatology and Child Health Cerebellar atrophy medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Pediatric Neurosciences |
| ISSN: | 1998-3948 1817-1745 |
| Popis: | A 7-year-old girl presented with progressive walking difficulties, spasticity, and cognitive decline with onset at 3 years of age. No seizures, vision, or hearing impairment were reported. The magnetic resonance imaging of the brain revealed cerebellar atrophy and evidence of iron deposition in the globi pallidi and substantia nigra. The clinico-radiological profile was suggestive of atypical childhood-onset neuroaxonal dystrophy. The patient was found to have compound heterozygous mutations in the PLA2G6 gene confirming the diagnosis. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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