Diagnosis of hereditary diffuse leukoencephalopathy with neuroaxonal spheroids based on next-generation sequencing in a family: Case report and literature review

RATIONALE: Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is a rare disease with white matter lesions of the central nervous system, and it usually has autosomal dominant inheritance. Its pathogenesis and causes are complex, and it has obvious clinical and genetic heterogeneities; also, it is classed as a neurodegenerative disease. PATIENT CONCERNS: In preliminary clinical work, we identified a family with rapid progressive dementia. DIAGNOSIS: Within this family, all patients had a CSF1R gene c.2696delA mutation (a deletion mutation), and head magnetic resonance imaging showed extensive white matter lesions. We diagnosed these patients with HDLS. INTERVENTIONS: The proband was given hormonal treatments and immunoglobulin therapy, and his dementia symptoms have been relieved to a certain extent. OUTCOMES: After treatment, the symptoms of dementia were still progressively aggravated. However, the mutation site has not previously been reported. LESSONS: This newly discovered mutation site may provide a new basis for the genetic diagnosis of HDLS disease in clinical work.