Retrospective, single center study of clinical, paraclinical and natural course of infantile-onset pompe disease

Infantile-onset Pompe disease is a rare genetic and lethal disorder which is caused by the lack of acid alpha-glucosidase activity [GAA]. The aim of our study was to identify the demographic and clinical characteristics, and natural history of these patients. In this retrospective study, clinical file of 15 patients diagnosed with infantile-onset Pompe disease whose symptoms started before the age of 12 months were studied. Diagnosis was based on clinical history, physical examination and diagnostic parameters in chest X-ray, echocardiogram, electrocardiogram and biochemical tests after rule out the other metabolic and neuromuscular disorders. Sixty percent of the patients were male and 40% were female. The mean age at the onset of symptoms was 78 days [range: 3-150 days]. Most frequent clinical and paraclinical symptoms were cardiomegaly, hypotonia, hyporeflexia, macroglossia, failure to thrive, hepatomegaly, and feeding problems, respectively. The mean age at the time of death was 5.96 months [range: 4-8 months], and all patients died before one year of age. Muscle enzymes including AST, ALT, LDH, and CPK were elevated in all patients. Due to the lack of availability, enzyme replacement therapy was not possible for any patient. The study showed that despite the supportive measures and no specific treatment, the clinical course is not significantly different with similar studies and the overall prognosis of this form of disease is very poor and disappointing

Rhabdomyosarcoma with skin metastasis: report of a case

Rhabdomyosarcomas are the most common soft tissue sarcoma in adult and children that accompany with skeletal muscle differentiation. Skin metastasis of rhabdomyosarcomas is unusual and has only been sporadically reported in literature. In this paper we present a case of skin metastasis of rhabdomyosarcoma in an 8-year-old girl that has treated with chemotherapy

Results of treatment with 2-chlorodeoxyadenosine [2-CDA] in multiple reactivations or refractory langerhans cell histiocytosis

Langerhans cell histiocytosis [LCH] is the most common type of histiocytosis and characterized by abnormal proliferation and excess accumulation of inflammatory and langerhans cells at various tissue sites. Clinical manifestations are variable, ranging from spontaneously regressing single bone lesion to multisystem disease, life-threatening and refractory to treatment. Conventional chemotherapy has been shown to be effective in treatment of majority of patients with LCH. However, treatment of refractory disease or multiple reactivations is difficult. The aim of this study is to assess the efficacy of 2-CDA in relapsed or refractory LCH. Four patients with relapsed or refractory LCH that were treated with 2-chlorodeoxyadenosin [2-CDA] enrolled in this study. All patients had received at least one prior chemotherapy regimen. The dose and schedule of 2-CDA was 6 mg/m[2]/day for 5 days every 3-4 weeks. Median age at the time of treatment with 2-CDA was 9.7 years. Three patients had multisystem disease and one had multifocal bone lesions. All patients had multifocal bone lesions. None of them had risk organ involvement. Mean course of treatment with 2-CDA was 9.5. Radiologic evaluations revealed complete resolution of bone lesions in two [50%] patients. In one [25%] patient lesions regressed [partial response] and in another [25%] the disease remained stable. Drug related side effects were minimal. At the present time all patients are alive. Our study demonstrates that 2-CDA as a single agent is efficacious in treatment of multiple reactivations or refractory LCH and well-tolerated in children

report of two children with severe homozygous familial hypercholesterolemia

Familial hypercholesterolemia [FH] is an autosomal disorder that causes severe elevations in total cholesterol and low- density lipoprotein. FH is one of the primary risk factors for premature coronary artery disease in children and adults which requires early diagnosis and appropriate medical intervention. In this article, we report two cases of homozygous familial hypercholesterolemia

case report of acute necrotizing encephalopathy of childhood

Acute Necrotizing Encephalopathy of Childhood [ANEC] is a rare disease with a higher prevalence in the East Asia which is characterized with symmetrical and multifocal involvement of areas including thalamus, brainstem, cerebellum and white matter and it is associated with death as well as long-term neurological disabilities [sequel] in the individuals who survive. In this report, we introduce a child with acute neurological symptoms resulted by a possible infection process and explain his CT-scan and brain MRI as well as paraclinical symptoms

Iron status and iron deficiency anemia in patients with febrile seizure

Febrile seizure is the most common form of seizure and iron deficiency is the most prevalent nutritional deficiency in children. Pathogenesis of this type of seizure is not well known, but several factors including genetic predisposition, lack of elements such as zinc, magnesium and iron are implicated in its occurrence. The objective of this study is to determine the iron status and iron deficiency anemia in patients with febrile seizure referred to "Ali-Ebn-e-Abitaleb hospital" of Zahedan in 2010. This case-control study was conducted on 50 children with febrile seizure and 50 children with febrile illness but not seizure as a control group with age range of 6-72 months. Both groups were identical in terms of age and gender. After obtaining demographic information based on clinical examination, history and information contained in the documents, complete blood cells count, red blood cell indices and serum ferritin were performed for all patients. The average age of patients in the case and control groups was 25.28 +/- 17.26 and 26.12 +/- 20.04 months, respectively. Mean values of hemoglobin, hematocrit, mean cell volume, mean cell hemoglobin, plasma ferritin and serum iron levels in patients with febrile seizure were lower than the control group, but this difference was not statistically significant. The number of patients suffered from iron deficiency anemia in the case and control groups, were 22 [44%] and 18 [36%], respectively. Considering the lack of significant differences between the case and control groups in terms of iron status and anemia prevalence, it is suggested that careful evaluation of anemia and RBC indices in such patients should be done only based on clinical and nutritional history of each patient

Mortality risk prediction by application of pediatric risk of mortality scoring system in pediatric intensive care unit

The Pediatric Risk of Mortality [PRISM] score is one of the scores used by many pediatricians for prediction of the mortality risk in the pediatric intensive care unit [PICIT]. Herein, we intend to evaluate the efficacy of PRISM score in prediction of mortality rate in PICU. In this cohort study, 221 children admitted during an 18-month period to PICU, were enrolled. PRISM score and mortality risk were calculated. Follow up was noted as death or discharge. Results were analyzed by Kaplan-Meier curve, ROC curve, Log Rank [Mantel-Cox], Logistic regression model using SPSS 15. Totally, 57% of the patients were males. Forty seven patients died during the study period. The PRISM score was 0-10 in 71%, 11-20 in 20.4% and 21-30 in 8.6%. PRISM score showed an increase of mortality from 10.2% in 0-10 score patients to 73.8% in 21-30 score ones. The survival time significantly decreased as PRISM score increased [P<0.001]. A 7.2 fold mortality risk was present in patients with score 21-30 compared with score 0-10. ROC curve analysis for mortality according to PRISM score showed an under curve area of 80.3%.PRISM score is a good predictor for evaluation of mortality risk in PICU