Hiroshi Mizumoto

Rapid detoxification of cereulide in Bacillus cereus food poisoning.

Bacillus cereus is recognized as a major pathogenic bacterium that causes food poisoning and produces gastrointestinal diseases of 2 types: emetic and diarrheal. The emetic type, which is often linked to pasta and rice, arises from a preformed toxin, cereulide, in food. Rapid and accurate diagnostic methods for this emetic toxin are important but are limited. Here we describe 3 patients with B cereus food poisoning in which cereulide was detected and measured sequentially. Three family members began to vomit frequently 30 minutes after consuming reheated fried rice. After 6 hours, a 1-year-old brother died of acute encephalopathy. A 2-year-old sister who presented with unconsciousness recovered rapidly after plasma exchange and subsequent hemodialysis. Their mother recovered soon by fluid therapy. From leftover fried rice and the childrens stomach contents, B cereus was isolated. Serum cereulide was detected in both children; it decreased to an undetected level in the sister. These cases highlight the importance of measuring the value of cereulide, which would reflect the severity of B cereus emetic food poisoning. The cases also suggest the possible role of blood-purification therapy in severe cases.

Electrocardiogram shows reliable heart rates much earlier than pulse oximetry during neonatal resuscitation.

Background:u2002 The aim of this study was to determine the usefulness of the three‐lead electrocardiogram (ECG) during neonatal resuscitation.

Refeeding syndrome in a small‐for‐dates micro‐preemie receiving early parenteral nutrition

This report describes a small‐for‐date extremely low birth weight infant who manifested bradycardic events, respiratory failure, and hemolytic jaundice during her first week of life. These complications were attributed to severe hypophosphatemia and hypokalemia. Inadequate supply and refeeding syndrome triggered by early aggressive parenteral nutrition were responsible for electrolyte abnormalities.

Familial hemophagocytic lymphohistiocytosis with the MUNC13-4 mutation: a case report

A 44-day-old male infant with familial hemophagocytic lymphohistiocytosis (FHL) associated with the MUNC13-4 mutation is reported. He presented with fever and poor feeding, lymphocytosis with thrombocytopenia and CSF pleocytosis without virological explanation. On the basis of progressive hyperferritinemia (1323xa0ng/ml), anemia (hemoglobin: 5.2xa0g/dl), hypertriglyceridemia (547xa0mg/dl) and increased LDH (1063xa0IU/l) with hemophagocytosis in the bone marrow, hemophagocytic lymphohistiocytosis was diagnosed. He showed a good response to corticosteroid therapy and the disease was stable for more than 5 months. Thereafter, he suffered from central nervous system complications, and successfully underwent unrelated cord blood stem cell transplantation. A remission was observed for more than 2 years, with mild mental retardation. Genetic analysis revealed that he had a compound heterozygous mutation of MUNC13-4; namely a novel 2163G>A mutation resulting in W721X, and 754-1G>C resulting in a premature stop codon in this gene. Western blot analysis showed the complete loss of the MUNC13-4 protein, whereas other molecules associated with the SNARE systems were detected at normal levels. Conclusion. FHL may have a broad clinical spectrum, and further analysis on its phenotype-genotype association is required to establish an appropriate treatment strategy, including immunochemotherapy and stem cell transplantation in the future.

Mild case of d-bifunctional protein deficiency associated with novel gene mutations

Peroxisomal disorders are rare life-threatening diseases and affected patients manifest seizures and hypotonia from birth. These symptoms are non-specific, and patients may remain underdiagnosed until they die in early infancy. d-bifunctional protein (DBP) is a multifunctional peroxisomal enzyme involved in fatty acid beta-oxidation. This article presents a case of DBP deficiency associated with 17-betahydroxysteroid dehydrogenase type 4 (HSD17b4) gene mutations, which have never been reported before in the relevant literature. The patient had mild neurological symptoms and few distinct dysmorphic features, which demonstrates the phenotypic variation and diagnostic difficulties associated with the peroxisomal disorders. The patient was the second son of unrelated and healthy parents and had a birthweight of 2770 g. He was hypotonic from birth but he did not have feeding problems. He manifested generalized tonic seizures from day 2. The results of laboratory analyses, including analyses for common metabolic disorders and infectious diseases, were unremarkable. A cranial computed tomography scan and magnetic resonance imaging revealed no abnormalities. Chromosomal analysis revealed a normal male

Severe Hemolytic Jaundice in a Neonate with a Novel COL4A1 Mutation

We report our experience with a preterm infant with severe hemolytic jaundice who required exchange transfusion just after birth. The patient was negative for alloimmune hemolysis as a result of maternal-fetal blood type incompatibility, and tests for inherited defects in erythrocyte metabolism, membrane function, and hemoglobin synthesis were normal. We also performed a bone marrow examination, but could not identify the cause of hemolysis. The patient had several other complications, including porencephaly, epilepsy, elevated serum levels of creatine kinase, and persistent microscopic hematuria. Later, we detected a genetic mutation in COL4A1, which was recently found to be associated with hemolytic anemia. We therefore believe that all of the patients clinical features, including hemolytic anemia, were due to the mutation in COL4A1. Genetic testing for COL4A1 mutations is recommended in neonates who exhibit hemolytic disease of unknown etiology, especially when other complications compatible with COL4A1-related disorders are present.

Transient neonatal hyperinsulinism with adaptation disorders: a report of three cases

Abstract Transient hyperinsulinism can occur in neonates following exposure to perinatal stress, such as intrauterine growth restriction and birth asphyxia. However, little is known about its pathophysiology and clinical manifestations. We report three neonatal cases of transient severe hyperinsulinism complicated with cardiopulmonary problems, thrombocytopenia, and marked erythroblastosis at birth. All cases showed signs of placental insufficiency, indicating that chronic hypoxia and malnutrition during fetal development might be associated with characteristic clinical features after birth. Perinatal stress-associated hyperinsulinism can be regarded as a systemic syndrome characterized by cardiopulmonary and hematological problems due to fetal chronic hypoxia.

Continuous glucose monitoring for suspected dumping syndrome in infants after Nissen fundoplication

Dumping syndrome is infrequently reported, but known to occur after Nissen fundoplication in children. However, it may be difficult both to diagnose and manage. Here we presented four infants who received Nissen fundoplication for severe gastroesophageal reflux disease, two of whom developed dumping syndrome whilst the other two did not. Continuous glucose monitoring (CGM) was very useful to clearly detect large glycemic fluctuation around each feeding. CGM was also helpful to prove the effect of treatment to avoid abnormal glucose levels. We believe that dumping syndrome in children may be underdiagnosed if clinicians rely solely on the recognition of symptoms or limited frequency of blood samplings. CGM might be the most sensitive diagnostic tool.

Depressed Levels of Interferon-Gamma and HLA-DR+CD3+ T Cells in Infants with Transient Hyperferritinemia

Familial hemophagocytic lymphohistiocytosis (FHL), which typically has its onset during infancy, is uniformly fatal if not treated. It therefore requires prompt therapeutic intervention. Although hyperferritinemia has been emphasized as a useful marker for FHL, some nonfatal cases in infants with spontaneous remission also manifest with hyperferritinemia. However, distinguishing them is difficult because initial clinical features of these infants are similar. The authors encountered 14 infants with hyperferritinemia (serum ferritin >674 ng/mL), which normalized within 3 weeks following a benign clinical course. The authors compared the levels of HLA-DR+CD3+ T-cell subsets and interferon-gamma (IFN-γ) in the peripheral blood between these infants and FHL cases: one of the authors’ own patients and others from the literature. Serum IFN-γ was not detected in infants with hyperferritinemia. Moreover, levels of HLA-DR+CD3+ T cells were extremely depressed. In contrast, serum IFN-γ was elevated and HLA-DR+CD3+ T cells were not depressed in FHL. Measurement of activated T cells and serum IFN-γ might help differentiate FHL in febrile infants with transient hyperferritinemia.

Intraday glucose fluctuation is common in preterm infants receiving intermittent tube feeding

We previously reported on three preterm infants with blood glucose abnormalities after reaching full enteral feeding. Recently, it has been shown that clinically stable preterm infants may have large fluctuations in blood glucose after the establishment of enteral nutrition. We hypothesized that intraday glucose fluctuation is a common finding in preterm infants, but improves at term post‐conceptual age. This report describes a case series.