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

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

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

Acute hydrocephaly following methadone intoxication in a child

Infantile methadone intoxication has been on the rise since the usage of methadone in opioid detoxification programs. We report a 30-month-old child with encephalopathy and acute hydrocephaly following methadone intoxication

Relationship between celiac disease and refractory idiopathic epilepsy in children

Epilepsy occurs with a yearly incidence of 40 per 100,000 children, of which more than 25% are resistant to drug therapy. Epilepsy may occur in autoimmune diseases like lupus, celiac disease and myasthenia gravis. In this study, the relationship between celiac disease and refractory epilepsy was evaluated in children with idiopathic epilepsy. Hundred-fifty-five children [mean age, 6.7 +/- 3.3 years] with idiopathic and cryptogenic epilepsy referred to the neurology clinic were studied in two groups; drug controlled epilepsy [control, 82 patients] and refractory epilepsy groups [case,73 patients]. Both groups underwent serological tissue transglutaminase antibody measurement by ELISA. In seropositive cases, small intestine biopsy was conducted. Data analysis was performed using student's t test and 2 test. Seven [0.04%] patients had celiac disease based on a positive tissue transglutaminase antibody and three patients [0.01%] based on a positive biopsy. Three patients [2.4%] with drug controlled epilepsy [control group] and five with refractory epilepsy [case group] had seropositive celiac disease [p=0.255]. In the biopsy survey of six seropositive patients, one patient [1.2%] in the drug controlled epilepsy and two patients [2.7%] in the refractory epilepsy group had positive biopsy for celiac disease [p =0.604]. One seropositive patient did not cooperate for biopsy. If the relationship between celiac disease and epilepsy, especially in cases of symptomatic or oligosymptomatic celiac is proved, using gluten free diet increases the ability to control epilepsy particularly in refractory cases. We suggest celiac disease survey is not required in patients with idiopathic epilepsy