male infant with abetalipoproteinemia: a case report from Iran

Abetalipoproteinemia [ABL] is a very rare autosomal recessive disorder caused by mutations in the microsomal triglyceride transfer protein gene [MTTP]. ABL is characterized by lack of lipids and apolipoprotein B [apoB] in plasma, fat malabsorption and various clinical manifestations. We describe a 12-month-old infant boy, born from consanguineous parents and presented with diarrhea, steatorrhea, growth retardation, hypothyroidism, intraventricu-lar brain cyst and kidney stones. The patient was diagnosed to have ABL and treated with dietary modification and oral fat-soluble vitamin replacement and followed until he reached 5 years of age

Characteristics and outcome of three forms of autoimmune hepatitis in Iranian children

To define the clinical features, biochemical and histological findings and outcome of three forms of autoimmune hepatitis. In a cross sectional study between November 2001 to January 2008 in Tehran and Mashhad university of medical sciences, 61 children who diagnosed as AIH [40 girls and 21 boys] have been analyzed for their clinical, serological, and histological data. Variables analyzed included age, sex, clinical presentation, hepatic function, immunoglobulins, autoimmunity markers, histology and clinical evolution. According to the auto-antibodies profile, AIH patients were classified as type I AIH [ANA or smooth-muscle antibodies or both positive], type II [anti-LKM-1 positive] and type III [antibody negative]. We analyzed data of 61 children with AIH. 51 patients [median age: 10 [0.7-14] years had anti-nuclear and/or smooth muscle antibody [ANA/ASMA or both], 5 [median age: 7 [2-8] years] had liver/kidney microsomal antibody [LKM-1]. 5 patients had no detectable autoantibody. At presentation: 60% had jaundice or symptoms of acute hepatitis; LKM-1 positive were younger. Interface hepatitis was seen in 100% and fibrosis +/- cirrhosis were found in 70%. Frequency of AIH was 2:1 in girls. Type 1 was the most frequent diagnosis [83%] and was more frequent in older children. Relapse and treatment failure were common in type II. AIH may have different clinical presentation in children. Althout most of cases may have high inflammatory activity or cirrhosis, good response to treatment and remission may accur

Pseudotumor cerebri in a case of ulcerative colitis with sagittal sinus thrombosis

Thromboembolic events are a known complication of Inflammatory Bowel Disease [IBD] especially during disease relapse, more commonly in deep veins of extremities and lung, and rarely as Cerebral Sinovenous Thrombosis [CSVT]. We describe an 11 year old male patient with 3 months history of Ulcerative Colitis [UC] who presented as pseudotumor cerebri due to superior sagittal sinus thrombosis during an acute exacerbation of his colitis, that was successfully treated with heparin and then warfarin. In any known cases of UC presenting as acute severe headache, consider CSVT and request brain MRI and MRV to facilitate the diagnosis and early treatment

Evidence based medicine in pediatric practice: brief review

Practicing medicine according to the best evidence is gaining popularity in the medical societies. Although this concept, which is usually called Evidence Based Medicine [EBM] has been explained in many resources, it has not been addressed enough in pediatrics. In this review, we briefly explained Evidence Based Medicine approach and its applications in pediatrics in order to help the pediatricians to efficiently integrate EBM into their daily practice

Comparing oral route paraffin oil versus rectal route for disimpaction in children with chronic constipation; a randomized control trial

Functional constipation is a common and challenging problem in pediatrics. Fecal disimpaction prior to maintenance therapy is recommended to ensure successful treatment. The aim of this study was to compare the efficacy and patient's compliance of the two methods of paraffin oil administration [oral and rectal route] with the purpose of disimpaction in treatment of children with functional constipation. A total of 80 children [49 males and 31 females] aged 1-12 years, with functional constipation according to Rome III criteria, whose rectal examination confirmed fecal impaction were divided into two groups randomly. Group I received 3 ml/kg/day paraffin oil orally and group II received 3ml/kg/day paraffin oil rectally during 3 consequent days. Successful treatment was defined as no detectable fecal impaction in rectal examination after at most 72 hours. Patient compliance and family satisfaction also was evaluated using a scored questionnaire. Response to the treatment in both groups was with 92.5% and 82.5% in group I and II, respectively. So, there was no significant difference between the two methods of therapy. Family satisfying and compliance were obviously more achieved in group 1 [87.5% vs 57.5%] than in Group 2 [P<0.001]. No parents in group I complained about type of treatment while 12.5% of parents in group II were unsatisfied with the mode of paraffin oil administration. The most common side effect of paraffin oil in both groups was anal oil seepage [27.5%]. Nausea and abdominal pain were more common side effects in group 1 and 2 respectively. It seems that using paraffin oil per oral route in comparison with rectal route could be a preferred option for disimpaction in children causing less anxiety to the family

Colorectal polyps: a clinical, endoscopic and pathologic study in Iranian children

To study the clinical presentation, histology and colonoscopic features of lower gastrointestinal polyps in Iranian children. Medical reports of children with colorectal polyps were retrospectively reviewed from 1996 to 2005 at the Children's Medical Center Hospital, Iran. A total of 563 cases were studied. Data related to age, sex, family history, signs and symptoms, the size, location, polyp types and associated lesions were collected and analyzed. The mean age of children was 5.66 +/- 2.88 years [range 2 months to 17 years], with a male-to-female ratio of 1.61:1.0. The highest incidence was between ages 2 and 10 years [85.1%]. Rectal bleeding was the presenting symptom in 78.5% cases. The polyps were solitary in 94% of cases. A majority of polyps [86.3%] were juvenile and 86.7% located in the rectosigmoid area. Three percent of cases had a positive family history. One case of Turcot syndrome was also identified. Juvenile polyps remain the most common polyps in Iranian children. Although the presence of a solitary polyp in the rectosigmoid colon is more prevalent, in a significant number of cases they are multiple and located in proximal parts. Polyps must be removed even when asymptomatic because of their probable neoplastic potential

[ effect of baclofen on treatment of infancy gastro-esophageal reflux disorder]

Transient lower esophageal sphincter relaxation [TLESR] is the major cause of gastro-esophageal reflux disorder [GERD] in patient with reflux disease. GERD is the most common esophageal disorder in children. The GABA agonist baclofen decreases acid reflux through the inhibition of TLESRs and should similarly decrease non-acid reflux. The aim of this study was to evaluate the effect of baclofen on GERD in children. Thirty children with GERD were included in this clinical trial. Baclofen 0.25 mg/kg was given for three months. End points were assessed for weeks and months. Baclofen significantly improved the weight gain pattern and the mean of weight gain demonstrated a significant difference between base line value and weight on consequent months after therapy [P<0.0001]. Restlessness showed a significant improvement between baseline and threes month after treatment [P<0.001].Vomiting significantly decreased on follow up visits [P<0.001]. It is also increased the time and volume of feeding significantly 3 month after treatment [P<0.001]. We have not found serious complications. Baclofen reduces the symptom of TLESRs and may have a role in treating GERD