ArticleFrontiers in neurology
Expanding the clinical phenotype of HIST1H1E syndrome: cerebellar atrophy and bilateral optic neuropathy, a case report.
Article in Frontiers in neurology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: HIST1H1E syndrome is caused by frameshift variants in the Methods: A 51-year-old woman with intellectual disability, recurrent falls, and progressive visual difficulties required comprehensive ophthalmic, neurologic, and genetic evaluation. Results: Systemic examination revealed characteristic facial dysmorphism, brachydactyly, ataxic gait, tremor, and positive Romberg's sign. Ophthalmic examination showed bilateral optic disc pallor with patchy visual field deficits. Optical coherence tomography (OCT) confirmed retinal nerve fiber involvement and ganglion cell layer (GCL) loss. Electrophysiology supported bilateral optic neuropathies. Computed Tomography demonstrated optic nerve and cerebellar atrophy. Whole-exome sequencing identified a pathogenic heterozygous variant c.464dupC.p.(Lys157Glufs Conclusion: This patient expands the HIST1H1E syndrome phenotype to include cerebellar and optic nerve atrophy compatible with a neurodegenerative process.
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