Pyruvate kinase deficiency mimicking congenital dyserythropoietic anemia type I.

BACKGROUND: Pyruvate kinase (PK) deficiency is the most common enzyme abnormality in the glycolytic pathway. Here, we describe two siblings with PK deficiency that mimicked congenital dyserythropoietic anemia (CDA) type I. CASE: The siblings were referred to our hospital for evaluation of anemia when they were newborns. Their PK enzyme activities were normal. Their bone marrow aspirations and electron microscopies showed CDA-like findings. A CDA panel with next-generation sequencing showed no mutation. Though their PK enzyme levels were normal, a molecular study of the PKLR gene showed a homozygous variant c.1623G > C (p.Lys541Asn) in exon 12 of our patients. CONCLUSIONS: Although the diagnosis of pyruvate kinase deficiency is difficult, it can be confused with many other diagnoses. Bone marrow findings of these cases are similar to congenital dyserythropoietic anemia. In patients with normal pyruvate kinase enzyme levels, the diagnosis cannot be excluded and genetic analysis is required.

Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature.

BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare childhood cancer predisposition syndrome resulting from biallelic germline mutations of mismatch repair (MMR) genes. CMMRD syndrome is characterised by early onset malignancies in children. CASE: Here we present affected children of consanguinous parents diagnosed with CMMRD syndrome due to germline bi-allelic MSH 6 gene mutations with café au lait spots and multiple family cancers from Turkey and reported cases with CMMRD syndrome associated MSH 6 mutation in English literature. Hence, we reviewed English literature from 1990 to 2020 using Pub-Med database. Keywords used to search included constitutional mismatch repair deficiency syndrome, childhood cancer and MSH 6 gene mutation. CONCLUSIONS: We emphasize that the inclusion of CMMRD syndrome in the differential diagnosis of a patient who presents with cafe´ au lait spots and/or hypopigmented skin lesions and cancer especially when consanguinity and/or a history of cancer coexist in children.

Clinical features and treatment of primary autoimmune hemolytic anemia in childhood.

BACKGROUND AND AIM: Autoimmune hemolytic anemia (AIHA) is characterized by autoimmune destruction of erythrocytes. In this retrospective study, the clinical, laboratory features and treatment responses of patients with primary AIHA were evaluated. MATERIAL AND METHODS: 21 consecutive patients diagnosed with primary AIHA in a children's hospital from 2008 to 2016 were included. Clinical, laboratory findings and treatment responses were analyzed. RESULTS: Twenty-one patients, aged 6 months-15 years, with direct antiglobulin test positive anemia were presented. Pallor and jaundice were the common complaints and icterus and hepatomegaly /splenomegaly was the most common physical findings. Thirteen patients (62%) had a previous infection history. At the time of diagnosis, hemoglobin level was 3-10.5 g/dL. Fifty- eight percent of patients had IgG reactivity and 29.4% patients had both IgG and C3d reactivity. Eight patients were given methylprednisolone, 11 patients received prednisone and 14 patients received intravenous immunoglobulin. Five patients (23.8%) were transfused due to severe anemia. Two patients did not need any treatment. The response rate following first-line treatment was 94%. One patient who did not respond any treatment died of infection. CONCLUSION: Primary AIHA is an acute illness mostly self-limiting or requiring short-term steroid therapy. Rarely, it might be resistant to immunosuppressive treatment and be mortal.

Evaluation of endocrine and metabolic dysfunctions after hematopoietic stem cell transplantation in children: a study from Turkey.

BACKGROUND: Endocrine organs are highly susceptible to effects of high-dose chemotherapy. The objective of the study was to evaluate endocrine and metabolic complications after hematopoietic stem cell transplantation (HSCT) in children. METHODS: The patients who underwent HSCT in our center from April 2010 to October 2014 with at least 1 year follow-up were analyzed retrospectively. RESULTS: One-hundred children (M/F:59/41; mean age 8.9±4.8 years, mean follow-up time 3.4±1.2 years) were included in the study. Female hypogonadism was the most common endocrine dysfunction (35.7%), followed by growth impairment (29.4%), malnutrition (27.4%), dyslipidemia (26%), low bone mineral density (BMD) (25%), hypothyroidism (13%) and insulin resistance (12%). Patients who underwent HSCT >10 years of age were significantly at risk for hypogonadism, metabolic syndrome, growth impairment and malnutrition (p<0.05). CONCLUSIONS: Endocrine or metabolic dysfunctions are more prevalent in children who are older than 10 years of age at HSCT. Children who underwent HSCT should be followed-up by a multidisciplinary team during puberty and adolescence.

Successful allogeneic hemopoietic stem cell transplantation in a case of Wiskott-Aldrich syndrome and non-Hodgkin lymphoma.

WAS is a severe X-linked recessive disorder characterized by microthrombocytopenia, eczema, and immunodeficiency. A six-yr-old boy with WAS diagnosed as B-cell NHL (Stage III) localized in the liver who underwent successful HSCT from HLA-one antigen mismatch sibling donor has been presented here. His conditioning regimen included ATG, busulfan, and fludarabine. He received 2.3 × 10(6) /kg CD 34+ stem cells and 11 × 10(8) /kg nucleated cells at day 0. Neutrophil engraftment was achieved at day +14 and platelet engraftment at day +20. He has been in CR for more than two yr after transplantation. Thus, HSCT is an effective treatment for children with WAS even after development of lymphoma.