neonate with indurate dermal papules and nodules and pneumonia: a case report

We present an infant with several indurated plaques and nodules scattered on her body. She was brought to the hospital because of fever, runny nose and cough from one month ago. During the examination and investigation the plaques and nodules grabbed the attention of the clinicians and the skin biopsy and other lab works revealed the diagnosis of congenital leukemia

[Higher frequencies of chromosomal aberrations in lymphocytes of children with acute lymphoblastic leukemia after in vitro gamma irradiation]

Acute lymphoblastic leukemia [ALL] is the most common malignancy in childhood, characterized by excess lymphoblasts, and immature white blood cells that are continuously multiplying and overproducing in the bone marrow. The aim of this investigation was to measure the sensitivity of lymphocytes against gamma irradiation in patients with acute lymphoblastic leukemia, and also find out the effect of such irradiations in causing chromosomal abnormalities. In this investigation performed between April 2010 and July 2011, at the Department of Genetics, Cancer Institute of Iran, we studied the effects of gamma irradiation on the lymphocytes of 20 children with acute lymphoblastic leukemia. The lymphocytes of 30 healthy donors were used to establish as a normal response to gamma irradiation and seven age-matched ataxia telangiectasia patients were recruited as positive control. The chromosomal radiosensitivity was assessed with the G2- and the G0-assay. We compared the mean number of chromosomal abnormalities such as chromosome and chromatid breakages, chromosome and chromatid gaps, and chromatid exchanges in one-hundred metaphases of patients and control groups. The frequency of chromosomal aberrations was statistically higher among patients with acute lymphoblastic leukemia than the normal controls [P<0.01]. In total, 65% of the patients were sensitive to gamma irradiation, but the remaining 35% were similar to the normal controls. Patients with ataxia telangiectasia showed the highest sensitivity to gamma irradiation [P=0.001]. Our results showed that a high percentage of patients with acute lymphoblastic leukemia were sensitive to irradiation, meaning that maximum care should be taken during their treatment to avoid unnecessary X-rays or radiotherapies.

Presence of idiopathic thrombocytopenic purpura and autoimmune hemolytic anemia in the patients with common variable immunodeficiency

Common Variable Immunodeficiency [CVID] is a heterogeneous group of disorders characterized by hypogammaglobulinemia and an increased susceptibility to recurrent infections as well as autoimmunity and malignancies. Idiopathic Thrombocytopenic Purpura [ITP] and Autoimmune Hemolytic Anemia [AIHA] are two autoimmune disorders which may be seen in association with CVID. Among 85 CVID patients, seven cases had ITP and/or AIHA [8%]. Four of these patients had one or more episodes of ITP, one patient had AIHA, and two patients had both ITP and AIHA [Evans syndrome]. Almost, all patients experienced chronic and recurrent infections mostly in respiratory and gastrointestinal systems during the course of the disease. Among the seven patients, five presented their underlying disease with recurrent respiratory and/or gastrointestinal tract infections, while in two remaining patients, CVID was presented with ITP. Three patients died until now; two because of hepatic failure and one due to pulmonary hemorrhage. As CVID is prone to autoimmune disorders, it should be considered as a differential diagnosis of adult-onset ITP and possibly in children. Chronic and recurrent ITP, especially in the presence of propensity to respiratory and gastrointestinal infections mandate the evaluation for an underlying immune dysregulation such as CVID

Hemophagocytic lymphohistiocytosis in a neonate with cutis marmorata telangiectatica congenita

In this case report we describe the first case of hemophagocytic lymphohistiocytosis with concurrent cutis marmorata telangiectatica congenita. She had pancytopenia and hepatosplenomegaly, hemophagocytic cells in spleen necropsy, and she died with respiratory failure and pseudomonas induced septicemia

Clinical and laboratory findings in Iranian children with cyclic neutropenia

Cyclic neutropenia is a rare immunodeficiency syndrome, characterized by regular periodic oscillations in the circulating neutrophil count from normal to neutropenic levels through 3 weeks period, and lasting for 3-6 days. In order to determine the clinical features of cyclic neutropenia, this study was performed. Seven patients with cyclic neutropenia [3 males and 4 females], who experienced neutropenic periods every 3 weeks [5 with severe and 2 with moderate neutropenia], were investigated in this study. They had been referred to Iranian Primary Immunodeficiency Registry during 23 years [1980-2003]. The range of patients' ages was from 7 to 13 years [median 11 years]. The median age at the onset of the disease was 12 months [1 month- 2 years] and the median age of diagnosis was 2 [1.5-5] years, with a median diagnosis delay of 1 year [2 months- 5 years]. Neutropenia was associated with leukopenia [3 patients], anemia [3 patients], and thrombocytopenia [1 patient]. Patients were asymptomatic in healthy phase, but during the episode of neutropenia suffered from aphthous ulcers, abscesses and overwhelming infections. The most commonly occurred manifestations were: otitis media [6 cases], oral ulcers [5 cases], abscesses [4 cases], pneumonia [3 cases], diarrhea [3 cases], oral candidiasis [3 cases], cutaneous infections [2 cases], and periodontitis [2 cases]. One of these patients subsequently died because of recurrent infections. Unusual, persistent or severe infections should be the initiating factors to search for an immune deficiency syndrome such as cyclic neutropenia, because a delay in diagnosis may result in chronic infection, irretrievable end-organ damage or even death of the patient