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Child Neurology: Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl.
- Source :
-
Neurology [Neurology] 2021 Nov 02; Vol. 97 (18), pp. 875-878. Date of Electronic Publication: 2021 Jun 29. - Publication Year :
- 2021
-
Abstract
- POLR3-related disorders are rare hypomyelinating leukodystrophies associated with hypodontia. We present a female patient, who was referred to pediatric neurology at 2 years of age for tremor, low tone, and motor delays. In addition, she was noted to have a delay in her teeth eruption and myopia. Neurologic examination was significant for ataxic features and global developmental delay. Laboratory workup was unrevealing. MRI was significant for hypomyelination. Genetic testing confirmed a pathogenic variant of POLR3B POLR3-related leukodystrophies should be considered in patients who present with hypotonia, ataxia, and hypodontia. There are many different subtypes of POLR-related leukodystrophies each with distinguishing phenotypic and radiographic features. Although MRI can be helpful in initial evaluation, genetic testing is needed for confirmatory diagnosis and to guide prognosis.<br /> (© 2021 American Academy of Neurology.)
Details
- Language :
- English
- ISSN :
- 1526-632X
- Volume :
- 97
- Issue :
- 18
- Database :
- MEDLINE
- Journal :
- Neurology
- Publication Type :
- Academic Journal
- Accession number :
- 34187860
- Full Text :
- https://doi.org/10.1212/WNL.0000000000012445