A Rare Case of Glycogen Storage Disease Type 1a Presenting with Hemophagocytic Lymphohistiocytosis (HLH).

BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome characterized by fever, respiratory distress, massive hepatomegaly, and bicytopenia. It is classified into primary (congenital) and secondary (acquired) types. There are many diseases associated with secondary HLH, but glycogen storage disease is a novel cause of secondary HLH. Case Presentation. In this case, we present a five-month-old female infant with recurrent fever, poor feeding, pallor, and prolonged diarrhea for two months. With a diagnosis of HLH, the patient was treated with IVIG and prednisolone. After treatment was initiated, the patient's general condition improved. All metabolic workup was normal. We did whole-exome sequencing that confirmed glycogen storage disease (GSD) type 1. CONCLUSION: Metabolic diseases are one of the severe causes of secondary HLH in infants; hence, complete metabolic assessment is mandatory in these patients, and GSD must be included in the differential diagnosis of HLH metabolic causes.

Efficacy and safety of deferasirox in ß-thalassemia major patients in Iran: a prospective study from a single referral center in Iran.

INTRODUCTION: Herein, the results of a prospective study evaluating the efficacy and safety of treatment with deferasirox are studied in iron-overloaded patients with ß-thalassemia major during an 18-month trial. METHODS: Thirty patients who were previously chelated with deferoxamine with/without deferiprone, and fulfilled the inclusion criteria were recruited. Patients received an initial dose of 10-30 mg/kg/day. Liver and cardiac MRI T2* were evaluated before and after the trial. In addition, serum ferritin level was assessed every 3 months. Primary endpoint was regarded as significant improvement in the severity of liver and cardiac iron overload in severe and moderate cases, in addition to improvement or maintenance of the grade of severity in patients with mild iron overload or normal iron accumulation. Therapy was considered effective if primary endpoint was met in >50%. RESULTS: Liver MRI values improved significantly (P = .002), achieving a 73.33% success rate. A successful outcome regarding myocardial iron overload was observed in 80%. Finally, an overall of 66.66% of patients met the success criteria. Secondary endpoint, regarded as safety and tolerability was reached by 93.33%. The most common adverse events were skin rash and gastrointestinal disturbance. A dose between 30 and 40 mg/kg/day, tailored to each patient was considered the optimal dose. CONCLUSION: Deferasirox proved as an efficient and safe chelating agent in our patients, specifically in mild to moderate iron overloaded patients.

Bony lesions in pediatric acute leukemia: pictorial essay.

Acute leukemia is the most common malignancy in childhood, which mainly involves children less than 15 years of age. The growing skeleton is the main site of involvement in children. Leukemic cells proliferate within the massive red bone marrow in children. So besides the pallor, petechia, purpura and ecchymosis in the skin and mucosal surfaces, bone pain and other bony lesions are other manifestations of leukemia.On the other hand, bony lesions are more prevalent in children than adults with no poor prognosis in comparison to patients without bone lesions. These bony lesions may precede other laboratory tests so familiarity with these presentations is very important for earlier diagnosis.In this pictorial essay, we tried to gather the most common bony lesions that may be seen in acute leukemia in different cases admitted to our hospital with general malaise and localized tenderness and discomfort leading us to perform plain X-ray for further evaluation. Finding these bony lesions helps clinicians to reach the diagnosis quickly. These findings include metaphyseal lucent band and erosion, periosteal reaction, small lucent bone lesion and permeative appearance, reduced bone density and collapsed vertebra.

Humoral immunity against hepatitis B, tetanus, and diphtheria following chemotherapy for hematologic malignancies: a report and review of literature.

Malignancy and its treatment are major causes of secondary immunodeficiency in childhood. The authors investigated the effects of chemotherapy on humoral immunity against hepatitis B, tetanus, and diphtheria in children with hematologic malignancies. The authors recruited 54 patients with hematologic malignancies after the completion of chemotherapy (group A), 25 patients with newly diagnosed hematologic malignancies before initiation of chemotherapy (group B), and 74 healthy controls (group C). All participants had been vaccinated against hepatitis B, tetanus, and diphtheria according to the Iranian national vaccination scheme. Patients in group A achieved protective levels of diphtheria and hepatitis B antibodies significantly less frequently than the other 2 groups and protective levels of tetanus antibody significantly less frequently than group C (P <.05). After controlling for age, the association observed for tetanus lost its significance, but chemotherapy was a significant and independent predictor of failure to achieve protective levels of antibodies against diphtheria (odds ratio [OR] = 7.7, P < .001) and hepatitis B (OR = 3.13, P = .008). These results indicate that chemotherapy has independent adverse effects on vaccine-induced antibody protection against diphtheria and hepatitis B.

Generalized myelolipoma.

Myelolipoma is a benign tumor originating from hematopoietic and adipose tissue. This tumor usually develops in the adrenal gland, but rare presentations of extraadrenal myelolipoma are also reported, which usually arise from the presacral region. Herein, we present a 6-year-old girl with myelolipoma with generalized involvement of her abdomen, pelvis, chest, and retroorbital region.