RESUMO
Inherited optic neuropathies (IONs) are neurodegenerative disorders affecting the optic nerve and the nervous system. Dominant and recessive IONs are known. Many of the dominant IONs are caused by mutations of OPA1. Autosomal-recessive IONs are rare. OPA10 is an autosomal-recessive ION due to mutations in RTN4IP1. Patients with RTN4IP1 mutations show extraocular manifestations. We report brothers with optic neuropathy who had novel mutations in the RTN4IP1 gene. This is the first report of Japanese patients with OPA10. They showed extraocular manifestations resembling mitochondrial encephalopathy.
Assuntos
Proteínas de Transporte/genética , Proteínas Mitocondriais/genética , Mutação , Doenças do Nervo Óptico/diagnóstico , Doenças do Nervo Óptico/genética , Irmãos , Adolescente , Análise Mutacional de DNA , DNA Mitocondrial/genética , Heterozigoto , Humanos , Masculino , Oftalmoscópios , Atrofia Óptica/genética , Atrofia Óptica/patologia , Linhagem , FenótipoRESUMO
Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of progressive brain disorders with several distinguishable subtypes. Recently, WDR45 mutations were reported in patients with ß-propeller protein-associated neurodegeneration (BPAN), characterized by early intellectual disability followed by delayed progressive motor and cognitive deterioration with onset in the second to third decade. BPAN has a distinct brain magnetic resonance imaging (MRI) pattern showing iron deposition in the globus pallidus and substantia nigra. To date, many of the BPAN patients have been diagnosed in adulthood. Here, we report on 6-year-old girl with BPAN diagnosed by whole exome sequencing. She showed Rett syndrome-like manifestations, a peculiar facial appearance and mildly elevated serum enzymes. Brain iron accumulation was detected by T2*-weighted MRI and T2-star weighted angiography (SWAN). This unique combination of clinical and neuroimaging features may be helpful for early diagnosis of BPAN.
