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Pulmonary involvement is a serious complication in Gaucher disease, as is neuronopathic involvement. Few reports are available, however, on the frequency, clinical course and therapy for pulmonary involvement in patients with Gaucher disease. We report a case of type 2 Gaucher disease with severe hepatosplenomegaly, anemia, hypertonia, and psychomotor retardation. The diagnosis of Gaucher disease was confirmed by the presence of Gaucher cells in bone marrow and low serum beta-glucocerebrosidase activity (patient, 0.8; control, 4.1-9.7 nmol/mg.protein/hr) at the age of 1 year. The patient's genotype is L444P/unknown. Enzyme replacement therapy (ERT) with intravenous imiglucerase at 78 U/kg/2weeks was started, and hepatosplenomegaly and laboratory abnormalities were markedly improved after 6 months of therapy. After 8 months of therapy, respiratory impairment appeared together with a decrease of tidal volume and low SpO2 during sleep. Serum acid phosphatase and angiotensin converting enzyme levels mildly increased, and radiological findings showed bilateral ground-glass appearance without signs of respiratory infection. With the diagnosis of progressive pulmonary involvement in Gaucher disease, we increased the dosage of imiglucerase from 50 to 75 U/kg/2 weeks. After a month, respiratory symptoms and CT findings of ground-glass appearance remarkably improved, but interlobular septal and intralobular interstitial thickening persisted. The maximum permitted dosage of imiglucerase in Japan is 60 U/kg/2 weeks. Based on our experience with this case, we propose that a higher ERT dosage would be uselul for serious pulmonary involvement.

We have experienced a case of bipolor I disorder complicated by mental retardation and autistic disorder. Acquired daily life activities such as eating, clothing and toileting without assistance were gradually lost during depressive periods, which was consistent with the previous reports. Before losing daily life skills, the patient could no longer perform daily life activities without consecutive instructions. This "waiting-for-instruction" behavior may be an early diagnostic key for major depressive episode in mentally-retarded children and adolescents.

We have seen 9 moderately to severely mentally-retarded autistic children and adolescents who waited for small-step instructions to perform previously acquired daily life activities (called "waiting-for-instruction" behavior). None of these patients were capable of expressing their depressive mood. All cases were considered to meet the criteria for major depressive episode described in DSM-IN. The "waiting-for-instruction" behavior was suggested to be a diagnostic key for depressive state in mentally retarded children and adolescents. GAF scales for depressive symptoms including the "waiting-for-instruction" behavior improved in 7 of these 9 cases with fluvoxamine. Risperidone and valproate sodium were useful for these symptoms in patients who were not responsive to fluvoxamine. Therefore, there is a possibility that they met the criteria for bipolar II disorder in DSM-IV.

We has been 13 cases of conduct disorder (CD) with developmental disabilities for 10 years. These cases were judged as pre-delinquent states at 8.9 years old (average) and as CD at 12.5 years old. All of these children had been maltreated by their parents. Except for 4 cases who were in juvenile reformatory or prison, 5 of 9 cases were transferred to protective custodial institutions. Custodial intervention could successfully amend CD symptoms in 4 cases. Compared with a gender-matched control group with the same developmental disabilities, the CD group showed a significantly higher rate of maltreatment and a higher divorce rate among the parents. The number of parents with psychiatric disorders was not significantly different between the two groups, although parents of the control group were receiving psychiatric treatment significantly more often than those of CD group. This study suggested that therapeutic intervention is important for preventing CD to not only in children but also in their parents. Further investigations on the measures to intervene in families with a pre-delinquent child is required.