Neonatal hemochromatosis with εγδß-thalassemia: a case report and analysis of serum iron regulators.

BACKGROUND: Neonatal hemochromatosis causes acute liver failure during the neonatal period, mostly due to gestational alloimmune liver disease (GALD). Thalassemia causes hemolytic anemia and ineffective erythropoiesis due to mutations in the globin gene. Although neonatal hemochromatosis and thalassemia have completely different causes, the coexistence of these diseases can synergistically exacerbate iron overload. We report that a newborn with εγδß-thalassemia developed neonatal hemochromatosis, which did not respond to iron chelators and rapidly worsened, requiring living-donor liver transplantation. CASE PRESENTATION: A 1-day-old Japanese boy with hemolytic anemia and targeted red blood cells was diagnosed with εγδß-thalassemia by genetic testing, and required frequent red blood cell transfusions. At 2 months after birth, exacerbation of jaundice, grayish-white stool, and high serum ferritin levels were observed, and liver biopsy showed iron deposition in hepatocytes and Kupffer cells. Magnetic resonance imaging scans showed findings suggestive of iron deposits in the liver, spleen, pancreas, and bone marrow. The total amount of red blood cell transfusions administered did not meet the criteria for post-transfusion iron overload. Administration of an iron-chelating agent was initiated, but iron overload rapidly progressed to liver failure without improvement in jaundice and liver damage. He underwent living-donor liver transplantation from his mother, after which iron overload disappeared, and no recurrence of iron overload was observed. Immunohistochemical staining for C5b-9 in the liver was positive. Serum hepcidin levels were low and serum growth differentiation factor-15 levels were high prior to living-donor liver transplantation. CONCLUSIONS: We reported that an infant with εγδß-thalassemia developed NH due to GALD, and that coexistence of ineffective erythropoiesis in addition to erythrocyte transfusions may have exacerbated iron overload. Low serum hepcidin levels, in this case, might have been caused by decreased hepcidin production arising from fetal liver damage due to neonatal hemochromatosis and increased hepcidin-inhibiting hematopoietic mediators due to the ineffective hematopoiesis observed in thalassemia.

New-onset egg allergy in an adult: A case report.

Most adult cases of hen's egg allergy are carried over from childhood, and new-onset adult cases are rare. Such cases may result from cross-reactivity or sensitization by inhalation. Here we present a rare case of adult-onset egg allergy due to monosensitization to ovalbumin (Gal d 2) with an unclear sensitization pathway. A 27-year-old woman developed recurrent gastrointestinal symptoms after ingestion of raw and under-cooked eggs. She had never suffered from atopic dermatitis or food allergies. She had never kept birds as pets and had no history of exposure to egg allergens. Prick to prick testing was positive only with raw egg white. Specific IgE testing revealed monosensitization to Gal d 2. She was advised to avoid raw and undercooked eggs and her symptoms resolved. In the management of adult-onset egg allergy, evaluation of allergen components will lead to appropriate elimination guidelines, and investigation of sensitization pathways may help identify the cause of this disease.

Analysis of factors associated with development of Bacille Calmette-Guérin inoculation site change in patients with Kawasaki disease.

Objective The present study was performed to identify factors associated with a Bacille Calmette-Guérin (BCG) inoculation site change in patients with Kawasaki disease (KD). Methods Among patients who had received BCG vaccination and treatment for KD at our hospital from 2005 through 2016, 177 patients born in 2005 through 2016 were enrolled. The patients were divided into those with (n = 83, change group) and without (n = 94, no-change group) a BCG site change, and the patient demographics, clinical severity, blood examination results, and echocardiographic findings were compared between the two groups. Results The change group was younger at onset and had a shorter interval from vaccination to onset. A BCG site change was observed in patients who developed the onset of KD symptoms from 31 to 806 days after BCG vaccination. Multivariate analysis showed that the interval from vaccination was closely and positively associated with the BCG site change (hazard ratio = 0.995, 95% confidence interval = 0.993-0.997). Conclusion A BCG site change in patients with KD is most closely associated with the interval from BCG vaccination to onset.

Evaluation of rapid immunochromatographic tests for norovirus in neonatal and infant faecal specimens.

OBJECTIVES: To compare the diagnostic performance of two norovirus rapid immunochromatographic kits (QuickNavi(®)-Norovirus [QN] and QuickNavi®-Norovirus 2 [QN2]; Denka Seiken, Niigata, Japan) for neonatal and infant faecal specimens. METHODS: Monthly faecal samples were collected from infants from birth to 12 months of age, and tested for norovirus using QN and QN2. Real-time reverse transcription polymerase chain reaction (RT-PCR) was used as the gold standard for norovirus detection. The diagnostic performance of the kits was calculated. RESULTS: A total of 343 specimens from 81 infants were analysed. In all samples, the specificity of QN and QN2 was 80% (275/343) and 99% (339/343), respectively. In infants aged <1 month, the specificity of QN was 33% (23/70), increasing to 93% at 4 months of age. Specificity of QN2 was ≥94% in infants between 0 and 12 months of age. CONCLUSIONS: QN2 offers improved performance and is more useful than QN for the diagnosis of norovirus infection in the neonatal and infant period.

Coil embolization of a patent ductus venosus in a 52-day-old girl with congenital heart disease.

We present the case of 52-day-old girl with a common atrioventricular canal. Severe liver dysfunction persisted following complete repair of the cardiac defect. A patent ductus venosus appeared to be the source of the hemodynamic disturbance responsible for hepatic dysfunction. Given her critical condition, coil embolization of the ductus venosus was performed, after which the patient improved rapidly. The ductus venosus should be tested for patency when liver dysfunction persists after the corrective cardiac surgery, and coil embolization is the treatment of choice in gravely ill children.