Introduction. Leber’s hereditary optic neuropathy (LHON) is a maternally inhe rited disorder affecting the optic nerves inwhich the typict clinical presentati on is subacute, painless, sequential visual loss in young...Introduction. Leber’s hereditary optic neuropathy (LHON) is a maternally inhe rited disorder affecting the optic nerves inwhich the typict clinical presentati on is subacute, painless, sequential visual loss in young adult males. Patients with LHON who have atypical clinical fee tures may be in itially misdiagnosed. O bservation. An 8-year-old boy developed an acute severe bilateral optic neurop athy associated wit pain and mild optic disc edema. Molecular genetic testing of his mitochondrial DNA revealed two point mutations, T14484C and G15257A. His vi sion began to improve within one month of onset of visual loss and eventually re covered to 20/15 in both eyes. Four years previously his oldest sister had acute ly lost vision in both eyes at age 12 years. Her young age, female gender, the b ilateral visual loss associate with pain, optic disc edema, absent family histor y of visual loss and negative workup were felt to be most consistent with a clin ical diagnosi of idiopathic optic neuritis of childhood. Her visual recovery whi ch began within two months of visual loss further supported the diagnosii She wa s retrospectively re-diagnosed with LHON after her younger brother was genetica lly confirmed. Conclusion. We describe two siblings with LHON whose time course from onset of visual loss to onset of visual recovery was unusually rapid. Becau se of other atypical features for LHON such as their young age at presentation, bilateral simultaneous visual loss and associated periorbital pain, their clinia profile appeared more typical of a demyelinating disease such as childhood opti c neuritis. The first affected sibling (sister) was initiall misdiagnosed. This report emphasizes that the clinical spectrum of LHON is variable and thus, LHON should be considered in any patient with an acute bilateral optic neuropathy, ev en in the absence of a positive family history. Correct diagnosis of this matern ally inherited disorder is important for assessment of visual prognosis and appr opriate genetic counseling.展开更多
Understanding the spectrum of idiopathic inflammatory demyelinating d isorders (IIDD) is a fundamental issue for the diagnosis and treatment of these disorders as well as for the approach to their pathogenesis. The sp...Understanding the spectrum of idiopathic inflammatory demyelinating d isorders (IIDD) is a fundamental issue for the diagnosis and treatment of these disorders as well as for the approach to their pathogenesis. The spectrum of IIDD is usually classified according to clin ical course and lesion distribution. We compared the demographic features, clini cal characteristics, laboratory findings, and genetic backgrounds between 193 Ja panese patients with and without clinically or radiographically fulminant attack s who all satisfied the diagnostic criteria for multiple sclerosis (MS). “Fulmi nant attacks”in the current study represent attack related clinically or radio logically severe relapses but do not necessarily mean severe disability. Patient s with fulminant attacks were clinically and immunogenetically distinct from tho se free of such attacks, and the previously described characteristics of the opt icospinal form of MS (OSMS) or neuromyelitis optica (NMO) were mostly shared by patients with fulminant attacks. HLA profiles were similar among patients with f ulminant attacks irrespective of the lesion distributions. The GG homozygous and G alleles of the CTLA4 gene A/G coding SNP at position 49 in exon 1 were signif icantly more common in patients with fulminant attacks than in those without. At tack related severity may be an important factor if validated by prospective st udies defining criteria and establishing relationships to disease course and tre atment regimens.展开更多
文摘Introduction. Leber’s hereditary optic neuropathy (LHON) is a maternally inhe rited disorder affecting the optic nerves inwhich the typict clinical presentati on is subacute, painless, sequential visual loss in young adult males. Patients with LHON who have atypical clinical fee tures may be in itially misdiagnosed. O bservation. An 8-year-old boy developed an acute severe bilateral optic neurop athy associated wit pain and mild optic disc edema. Molecular genetic testing of his mitochondrial DNA revealed two point mutations, T14484C and G15257A. His vi sion began to improve within one month of onset of visual loss and eventually re covered to 20/15 in both eyes. Four years previously his oldest sister had acute ly lost vision in both eyes at age 12 years. Her young age, female gender, the b ilateral visual loss associate with pain, optic disc edema, absent family histor y of visual loss and negative workup were felt to be most consistent with a clin ical diagnosi of idiopathic optic neuritis of childhood. Her visual recovery whi ch began within two months of visual loss further supported the diagnosii She wa s retrospectively re-diagnosed with LHON after her younger brother was genetica lly confirmed. Conclusion. We describe two siblings with LHON whose time course from onset of visual loss to onset of visual recovery was unusually rapid. Becau se of other atypical features for LHON such as their young age at presentation, bilateral simultaneous visual loss and associated periorbital pain, their clinia profile appeared more typical of a demyelinating disease such as childhood opti c neuritis. The first affected sibling (sister) was initiall misdiagnosed. This report emphasizes that the clinical spectrum of LHON is variable and thus, LHON should be considered in any patient with an acute bilateral optic neuropathy, ev en in the absence of a positive family history. Correct diagnosis of this matern ally inherited disorder is important for assessment of visual prognosis and appr opriate genetic counseling.
文摘Understanding the spectrum of idiopathic inflammatory demyelinating d isorders (IIDD) is a fundamental issue for the diagnosis and treatment of these disorders as well as for the approach to their pathogenesis. The spectrum of IIDD is usually classified according to clin ical course and lesion distribution. We compared the demographic features, clini cal characteristics, laboratory findings, and genetic backgrounds between 193 Ja panese patients with and without clinically or radiographically fulminant attack s who all satisfied the diagnostic criteria for multiple sclerosis (MS). “Fulmi nant attacks”in the current study represent attack related clinically or radio logically severe relapses but do not necessarily mean severe disability. Patient s with fulminant attacks were clinically and immunogenetically distinct from tho se free of such attacks, and the previously described characteristics of the opt icospinal form of MS (OSMS) or neuromyelitis optica (NMO) were mostly shared by patients with fulminant attacks. HLA profiles were similar among patients with f ulminant attacks irrespective of the lesion distributions. The GG homozygous and G alleles of the CTLA4 gene A/G coding SNP at position 49 in exon 1 were signif icantly more common in patients with fulminant attacks than in those without. At tack related severity may be an important factor if validated by prospective st udies defining criteria and establishing relationships to disease course and tre atment regimens.
