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Leber congenital amaurosis (LCA), although rare, is one of the most severe forms of early-onset inherited retinal dystrophy (IRD). Here, we review the molecular genetics and phenotypic characteristics of patients with NMNAT1- associated IRD. The longitudinal clinical and molecular findings of a Japanese girl diagnosed with LCA associated with pathogenic variants in NMNAT1 c.648delG, (p.Trp216Ter*) and c.709C>T (p.Arg237Cys) have been described to highlight the salient clinical features of NMNAT1 -associated IRD.

Sweet disease, also known as acute febrile neutrophilic dermatosis, is an idiopathic multisystem inflammatory disorder characterised by erythematous skin lesions and fever. "Neuro-Sweet disease" is a rare central nervous system involvement that coexists with the characteristic cutaneous lesions of Sweet disease. Here, we report a case of Sweet disease complicated with acute encephalopathy. This case showed extensive lesions in the cerebral white matter on magnetic resonance imaging (MRI) and high protein concentration in the cerebrospinal fluid (CSF) without pleocytosis. After steroid therapy, the patient's clinical syndrome recovered completely with no significant neurological deficits or abnormal findings on brain MRI, and normalization of the high CSF protein concentration. Both clinical and MRI findings suggested that the marked leukoencephalopathy in this case was mainly due to reversible oedema rather than destructive structural alterations in the cerebral parenchyma.

During the past 15 years, five poliovirus type 1 strains with non-vaccine-like antigenicity have been isolated in Japan. Of these isolates, two were from paralytic poliomyelitis patients not associated with the use of Sabin vaccine, and three were apparently introduced from abroad. All the isolates could be readily distinguished from the corresponding Sabin type 1 vaccine strain by oligonucleotide mapping of the viral RNA and by polyacrylamide gel electrophoresis of the viral proteins. The oligonucleotide map of the virulent Mahoney strain which has non-vaccine-like antigenicity was very similar to the map of Sabin type 1 strain. These data indicate that none of the isolates were derived from Sabin type 1 vaccine or its parental Mahoney strain. In addition, some isolates had close antigenic relationship with one another. It is probable that all these strains were introduced from foreign lands where wild poliovirus strains are prevalent.

Virus infections in laboratories in Japan from 1967 to 1972 were studied. Major causative agents were influenza virus, Australian antigen, Rickettsia, and vaccinia virus. The cases reported were neither severe, nor lethal. It was suggested that these infections were caused either by aerosol or contact. Measures to prevent infection in laboratories are discussed.

The Sabin oral poliovirus vaccine ( OPV ) has been used in Japan since 1961. Since then the number of paralytic cases has decreased markedly. The incidence of paralytic and positive rates for antibodies to poliovirus were analyzed. The number of paralytic cases associated with OPV was low for cases due to type 1 virus and high for those due to type 2 virus. As for cases due to type 3 virus, the number was high until 1969 and has been low since 1970. This difference was brought about by changing the batch of type 3 virus used in the preparation of OPV . The analysis of titers of neutralizing antibody showed that response to type 1 virus in OPV used in 1977 and to type 3 virus in OPV used in 1972 and 1973 was not adequate. Both situations were improved by changing the batches of virus used for OPV . These experiences suggest that the use of good batches is necessary for safety and efficacy of OPV .