Severe hepatic sinusoidal obstruction syndrome in a patient with Wilms tumor and hereditary spherocytosis.

A 7-year-old girl with a history of splenectomy for hereditary spherocytosis (HS) was diagnosed with renal hematoma after a blunt abdominal trauma while receiving aspirin. Multiple erythrocyte transfusions and transarterial embolization were performed without success. Eventual nephrectomy revealed severely necrotic and perforated Stage III Wilms tumor (WT). Radiochemotherapy was administered, but by the eighth week, she developed severe hepatic sinusoidal obstruction syndrome (HSOS). Her ferritin level at the time was 3406 ng/ml. Defibrotide and aggressive supportive measures provided full recovery. The patient was given deferasirox for iron chelation therapy and finished her treatment without incident. To our knowledge, just one patient with HS and WT has been described in the literature. The role of iron excess in HSOS pathogenesis in non-transplant patients has not been addressed before either. Transfusional hyperferritinemia, in addition to chemotherapeutics and radiation, may have contributed to the development of severe HSOS in our patient.

Prolonged Bleeding After Dental Extraction Due to Decreased Serum Level of Von Willebrand Factor Caused by Untreated Profound Hypothyroidism.

BACKGROUND: Delayed diagnosis of hypothyroidism may result in atypical presentations. Here, we report a case with decreased serum level and activity of von Willebrand factor due to untreated profound hypothyroidism. OBSERVATION: A 9-year-old girl, presented with prolonged gingival bleeding after dental extraction. Clinical findings of the case were consistent with hypothyroidism, and the laboratory workup results revealed decreased serum level and activity of von Willebrand factor associated with profound hypothyroidism. Restoration of euthyroidism normalized the coagulation parameters. CONCLUSION: Delayed diagnosis of hypothyroidism may lead to atypical presentations such as bleeding diathesis. Profound hypothyroidism should be considered in the differential diagnosis of acquired von Willebrand disease to avoid undue treatment.

Renal Ultrasonographic Abnormalities at Initial Presentation of Children Diagnosed with Acute Lymphoblastic Leukemia and Long-Term Renal Functions and Prognosis in Survivors.

Objectives: The kidney is a vulnerable organ for acute lymphoblastic leukemia (ALL), by the disease, and various associated clinical pictures. This retrospective study aims to document renal ultrasound abnormalities in children with newly diagnosed ALL as well as to investigate the correlation between renal findings and clinical/laboratory/survival data. Methods: All children (age <18 years) with ALL were included in the study. An increase in size/nephromegaly (NM) or hyperechogenicity (HE) of the kidneys at first admission was accepted as a pathological renal abnormality. The clinical/laboratory findings, survival, and long-term renal functions were compared between patients with and without NM/HE. Results: The incidence of NM±HE was 12% in 163 patients. Enlargement of spleen, liver, or both and, hypercreatininemia was independently correlated with the presence of NM/HE. After the induction therapy, ultrasound findings were resolved in all patients, and NM/HE did not influence ALL prognosis. All survivors had normal renal functions in long term. Conclusion: The renal ultrasound abnormalities are not uncommon in children with leukemia at admission, without a negative impact on leukemia prognosis and on long-term renal functions.

Amyloidosis in a Patient With Congenital Neutropenia Because of G6PC3 Deficiency.

Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency is a recently identified form of congenital neutropenia associated with developmental anomalies. The severity of neutropenia and the clinical spectrum are highly variable. Aside from infectious complications and extrahematologic features, inflammatory bowel disease and autoinflammatory complications are less frequently observed manifestations. However, amyloidosis has never been reported in G6PC3 deficiency. Here, we present a 12-year-old patient with incidentally discovered neutropenia because of the p.E65A (c.194A>C) variant of the G6PC3 gene. He had recurrent aphthae and abdominal pain episodes, and developed nephrotic-range proteinuria, amyloidosis, and end-stage renal failure during follow-up.

Sodium, Magnesium, Calcium, Manganese, Iron, Copper, and Zinc in Serums of Beta Thalassemia Major Patients.

Thalassemia major is the most severe form of thalassemia and occurs with the impaired synthesis of ß-globin which causes the accumulation of unpaired alpha globin chain. Patients with beta thalassemia major can only survive with periodically safe blood transfusions leading to the accumulation of iron in the bloods of patients, and this causes several endocrinopathies. Although iron overload in thalassemic patients has been extensively studied, there is little information about the levels of other trace elements. The aim of this study was to investigate the differences of serum concentrations of sodium, magnesium, calcium, manganese, iron, copper, and zinc for patients with major ß-thalassemia. Concentration of elements was determined by inductively coupled plasma-mass spectrometry system. The statistical difference between the elemental concentrations of the patient and control groups was found by the Mann-Whitney U test. In addition, the relationship between concentrations of the measured elements for each group was determined by the Spearman correlation test. The results revealed that iron, zinc, magnesium, and manganese serum levels of thalassemic patients were significantly higher than the control group while calcium concentration was statistically lower than the control group. There was no significant difference observed for copper and sodium levels of patients when compared to the healthy control group.

Prognostic gene alterations and clonal changes in childhood B-ALL.

Genomic profiles of leukemia patients lead to characterization of variations that provide the molecular classification of risk groups, prediction of clinical outcome and therapeutic decisions. In this study, we examined the diagnostic (n = 77) and relapsed (n = 31) pediatric B-cell acute lymphoblastic leukemia (B-ALL) samples for the most common leukemia-associated gene variations CRLF2, JAK2, PAX5 and IL7R using deep sequencing and copy number alterations (CNAs) (CDKN2A/2B, PAX5, RB1, BTG1, ETV6, CSF2RA, IL3RA and CRLF2) by multiplex ligation proximity assay (MLPA), and evaluated for the clonal changes through relapse. Single nucleotide variations SNVs were detected in 19% of diagnostic 15.3% of relapse samples. The CNAs were detected in 55% of diagnosed patients; most common affected genes were CDKN2A/2B, PAX5, and CRLF2. Relapse samples did not accumulate a greater number of CNAs or SNVs than the cohort of diagnostic samples, but the clonal dynamics showed the accumulation/disappearance of specific gene variations explained the course of relapse. The CDKN2A/2B were most frequently altered in relapse samples and 32% of relapse samples carried at least one CNA. Moreover, CDKN2A/2B alterations and/or JAK2 variations were associated with decreased relapse-free survival. On the other hand, CRLF2 copy number alterations predicted a better survival rate in B-ALL. These findings contribute to the knowledge of CDKN2A/2B and CRLF2 alterations and their prognostic value in B-ALL. The integration of genomic data in clinical practice will enable better stratification of ALL patients and allow deeper understanding of the nature of relapse.

Refugee children with beta-thalassemia in Turkey: Overview of demographic, socioeconomic, and medical characteristics.

AIM: Since the beginning of the Syrian civil war, more than 3.5 million Syrians have been under temporary protection status in Turkey. Because beta-thalassemia (BT) is a prevalent disorder in the Mediterranean countries, we decided to estimate the prevalence of and make an overview of the demographic, socioeconomic, medical characteristics, and healthcare problems of refugee children with BT. PATIENTS: Eighteen Turkish Pediatric Hematology Oncology Centers (PHOC) with 318 refugee children from 235 families participated in the study. The mean age of the patients was 8.1 ± 4.8 years (0.5-21 years). The mean time after immigration to Turkey was 2.5 ± 1.5 years (range, 0.1-7 years). Seventy-two (22.6%) of them were born and diagnosed with BT in Turkey. On physical examination, 82 patients (26%) were underweight and 121 patients (38%) were stunted. The appearance of a thalassemic face was reported for 207 patients (65.1%). Hepatomegaly and splenomegaly were reported in 217 (68.2%) and 168 (52.8%) patients, respectively. The median ferritin level was 2508 ng/mL (range, 17-21 000 ng/mL) at the first admission, and 2841 ng/mL (range, 26-12 981 ng/mL) at the last visit after two years of follow-up in a PHOC (P > 0.05). The most frequently encountered mutation was IVSI-110 (G>A) (31%). Before immigration, only 177 patients (55.6%) reported the use of chelators; after immigration it increased to 268 (84.3%). CONCLUSION: Difficulties in communication, finding a competent translator capable in medical terminology, nonregular use of medications, and insensitivity to prenatal diagnosis were preliminary problems. The current extent of migration poses emerging socioeconomic and humanitarian challenges for refugee patients with BT.

Chronic hepatitis B in children with or without malignancies: a 13-year follow-up.

AIM: To evaluate the outcome of chronic hepatitis B (CHB) in children with or without malignancies. METHODS: Twenty four children (15 boys and 9 girls) with malignancies, followed up by the pediatric gastroenterology outpatient clinic for CHB between January 2000 and December 2013, were enrolled in the study (Group 1). Group 2 was formed with twenty five children (11 girls and 14 boys) diagnosed with CHB without malignancies. The data from the patients' records were compared between the two groups. RESULTS: Hepatitis B e antigen (HBeAg)/antiHBe seroconversion was observed in 3 patients (12.5%) in group 1 and 15 patients (60%) in group 2, with annual seroconversion rates of 1.61% and 16.6%, respectively, and the difference was significant (P<0.01). One patient (6.6%) in Group 1 and 9 patients (53%) in Group 2 showed HBeAg/antiHBe seroconversion after treatment and the difference between the two groups was significant (P<0.06) Loss of hepatitis B surface antigen was observed in one patient in each of group 1 and 2. No clinical, laboratory and imaging findings of liver disease were observed in any of the patients at the end of the study. CONCLUSION: HBeAg/antiHBe seroconversion rate was lower in patients who had recovered from cancer.