Nasu-Hakola disease (NHD) is a rare autosomal recessive neuropsychiatric disorder characterized by bone cysts, fractures, and cognitive impairment. Two genes are responsible for the development of NHD; TYROBP and TREM2. Although it presents with typical signs and symptoms, diagnosing this disease remains difficult. This case report describes a male with NHD with no family or past history of bone fractures who was diagnosed using exome sequencing. His frontal lobe psychiatric symptoms recovered partially following treatment with sodium valproate, but not with an antipsychotic.
Bone Cysts ; Consanguinity* ; Exome* ; Fractures, Bone ; Frontal Lobe ; Humans ; Male ; Sodium* ; Valproic Acid*

Clozapine is well-known for successful use in schizophrenic patients treatment resistant to other antipsychotics. However, even with clozapine, 25% of schizophrenic patients are not in remission. Recently, as adjunctive treatment with clozapine, electroconvulsive therapy has been reported to be an effective and safe adjunctive treatment. We report a Japanese schizophrenic woman who was not in remission with clozapine alone but with both clozapine and electroconvulsive therapy.
Antipsychotic Agents ; Asian Continental Ancestry Group* ; Clozapine* ; Electroconvulsive Therapy* ; Female ; Humans ; Lithium ; Schizophrenia*

Schizophrenic patients resistant to antipsychotics are diagnosed as having treatment-refractory schizophrenia, and they are treated with clozapine. However, clozapine is sometimes combined with electroconvulsive therapy (ECT) if clozapine monotherapy fails. In this report, a severe treatment-refractory schizophrenic patient who did not respond to clozapine even with ECT, but who recovered with asenapine monotherapy, is presented. Asenapine, considered a serotonin spectrum dopamine modulator, is a new atypical antipsychotic with unique pharmacological features that is used not only for schizophrenia, but also for bipolar disorder. The unique features of asenapine may be effective for some treatment-refractory schizophrenic patients.
Antipsychotic Agents ; Bipolar Disorder ; Clozapine ; Dopamine ; Electroconvulsive Therapy ; Humans ; Recurrence ; Schizophrenia ; Serotonin ; Suicide

In hemodialysis, an adsorbent is used to remove phosphorus from the blood.Because phosphorus adsorbents contain iron, they may cause iron excess, and appropriate management is thus required.In recent years, the use of sucroferric oxyhydroxide (SO), which has become available, is said to be associated with lower iron absorption and is less likely to cause iron excess, as compared with conventional ferric citrate hydrate (FCH). However, in clinical trials of SO conducted in Japan, serum ferritin (Ft) and transferrin saturation (TSAT) tended to increase, and this may cause iron excess similar to FCH. Therefore, we report here on the phosphorus adsorption effect and the influence on iron-related benefit of SO.Among 12 patients, iron-related abnormalities were observed in 3 patients and adverse events such as diarrhea and nausea were observed in 7 patients.In 8 patients who continued taking SO for up to 24 weeks, serum phosphorus (P) decreased, Ft and TSAT increased, Hb, Fe, Ca did not change significantly, and the dose of erythropoiesis-stimulating agents (ESA) decreased. The rate of change of Ft was greater in 5 patients with iron deficiency than in 3 patients with non-ferrous deficiency. SO administration tended to decrease P and improve iron deficiency.In addition, there was a decrease in the dose of ESA, suggesting the possibility of contributing to pharmaceutical cost reduction.Conversely, in patients with iron deficiency, iron-related abnormalities were observed in 3 patients, and about half had adverse events with subjective symptoms 4 weeks after the start of treatment with SO.Therefore, the administration of SO takes into account the effects on iron-related values as well as FCH, it is thus considered important to adjust the dose of SO or ESA depending on the condition while monitoring clinical laboratory values and adverse events from the beginning of administration.