Child Neurology: Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl

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.

Read article at journal's website

Related Articles

Responses

Your email address will not be published. Required fields are marked *