A Saudi Child With Chronic Immune Thrombocytopenia and Vitiligo.

Chronic immune thrombocytopenia (ITP) is less commonly found in the children presenting with ITP. Patients usually present with petechiae, purpura, or active bleeding in the form of epistaxis or hematuria. The main aim of treatment in chronic ITP is to prevent major bleeding and to increase the platelet count. High doses of corticosteroids, intravenous immunoglobulin, rituximab, and eltrombopag, a thrombopoietin receptor agonist (TPO-RA), are medications that can be used. In this report, we present a case of chronic ITP in a 12-year-old child. In addition to features of chronic ITP, he also has vitiligo around his eyes and limbs. During treatment, he was resistant to steroids and did not respond to rituximab or eltrombopag. To understand the cause of his presenting features, we did multiple diagnostic evaluations. The whole-exome sequencing raises the possibility of auto-inflammatory syndrome Behcet-like (AISBL), which is a rare genetic disorder and not frequently reported in the available medical literature. AISBL is caused by mutations in the TNFAIP3 gene. According to our best knowledge, this is the first Saudi child diagnosed with chronic ITP and vitiligo with the possibility of AISBL that needs further genetic work-up to confirm the diagnosis.

Anaplastic Sarcoma of the Kidney: A Rare Unique Renal Neoplasm.

Anaplastic sarcoma of the kidney (ASK) is an extremely rare tumor, which usually presents as a large renal mass. Microscopically, the tumor is composed of pleomorphic mesenchymal spindle cells with marked atypia, associated with chondroid differentiation and focal round primitive mesenchymal cells. Herein, we present a case of anaplastic sarcoma of the kidney in a 3-year-old female, who presented with a large abdominal mass. To the best of our knowledge, less than 25 cases are reported in the literature. In addition, this is the first case reported from the Middle East.

Outcome and toxicity of chemotherapy for acute lymphoblastic leukemia in children with Down syndrome.

BACKGROUND: Acute lymphoblastic leukemia (ALL) in children with Down syndrome (DS) presents with an increased incidence, higher frequency of adverse effects and inferior probability of survival. Attempts at improving outcomes face the dilemma posed by the need to avoid excessive toxicity while maintaining the efficacy of treatment. Dose reductions and avoidance of infusions of intermediate and high-dose methotrexate are common in this group. PROCEDURE: In a matched pair analysis we compared adverse effects and survival after ALL chemotherapy using intermediate and high doses of methotrexate in children with and without Down syndrome. RESULTS: Following intermediate and high doses of methotrexate to treat primary ALL, children with DS did not require opiate analgesia and parenteral nutrition for severe mucositis more often than children without DS. Children with DS spent more days in hospital and missed more doses of maintenance chemotherapy. Chemotherapy dose reductions were common and in this study had no detectable adverse impact. Event-free and overall survival (OS) of children with ALL was lower in the DS than the non-Down syndrome (NDS) control group. The difference, however, was no longer significant during the recent treatment era. CONCLUSIONS: The feasibility of all treatment elements that are efficacious in pediatric ALL needs to be carefully considered in children with DS. In addition to survival data, the prospective collection of data on both adverse events and treatment modifications is essential to strike a balance between the avoidance of adverse effects and the need for intensive therapy that will safely improve ALL outcomes in this group.