Expanding Spectrum of FIG4-Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype-Phenotype Correlations.
Pankaj Prasun, Matthew Rasberry
✦ AI-curated · Sources linked
Case in brief
A patient presented with global developmental delay, hypotonia, cerebral hypomyelination, and peripheral hypomyelinating polyneuropathy, alongside frequent fractures and juvenile ossifying fibroma. Genetic analysis revealed biallelic loss-of-function variants in FIG4, linking the clinical features to FIG4-related neurological disorders. This case highlights the expanding phenotypic spectrum associated with FIG4 mutations.
Diagnostic / clinical pearl
Clinicians should consider FIG4-related disorders in patients with a combination of central and peripheral nervous system symptoms, as well as skeletal abnormalities.
Why it matters
Understanding the genotype-phenotype correlations in FIG4-related disorders can aid in diagnosis and management, as the clinical spectrum is broadening.