Juvenile Batten disease: A diagnostic conundrum.

This article describes the 6-year journey to diagnosis of twin girls with varying presentations of the same rare disease. Batten disease is a neurodegenerative disease caused by an autosomal recessive genetic mutation. In patients with juvenile Batten disease, the most common initial symptom is vision loss, and initial testing early in the disease process typically fails to find any indication of this fatal disease. Copyright © 2021 American Academy of Physician Assistants.

Citation

Kathryn Niederer. Juvenile Batten disease: A diagnostic conundrum. JAAPA : official journal of the American Academy of Physician Assistants. 2021 Jun 01;34(6):44-47

Mesh Tags

PMID: 34031314

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