Abstract:
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.
journal_name
Medicine (Baltimore)journal_title
Medicineauthors
Shi T,Li J,Tan C,Chen Jdoi
10.1097/MD.0000000000015802subject
Has Abstractpub_date
2019-05-01 00:00:00pages
e15802issue
22eissn
0025-7974issn
1536-5964pii
00005792-201905310-00040journal_volume
98pub_type
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