Journal of Pediatrics Review
Volume:3 Issue: 2, Apr 2015

Aniridia is a congenital pan-ocular, bilateral disorder. The term aniridia is a misleading misnomer, since at least a rudimentary iris is always present. Varied forms range from almost total absence to only mild hypoplasia of the iris. It is inherent in a number of syndromes, including Wilms tumor Aniridia-Genital anomalies-retardation (WAGR). Aniridia has been shown to be associated with mutations in the PAX6 gene, located on chromosome 11p13, telomeric to the Wilms’ tumor predisposition gene (W1). The pair box gene 6 (PAX6) situated at 11p13 has been confirmed to be the leading gene associated with aniridia. The PAX6 mutation is present in individuals worldwide and has been studied in Indian, Malaysian, Chinese and Mexican families. Several categories of PAX6 mutations include: nonsense mutations, splicing mutations, frameshift mutations (deletion or insertion), in-frame insertion or deletion, missense mutations and run-on mutations. A novel de novo frameshift mutation in PAX6 most possibly occurred in the paternal gamete. Mutation in PAX6 brings about amino acid substitution for instance proline to glutamine. Deletion of 11p13 involves the PAX6 (aniridia) locus and the adjacent WT1 (Wilms tumor) locus. Haploinsufficiency at the PAX6 locus brings on aniridia, a pan-ocular eye condition characterized by iris hypoplasia and various other anterior and posterior eye defects, subtle hypogonadotropic hypogonadism and borderline Growth Hormone (GH) deficiency. Aniridia may also be affiliated with retinal tears and detachments. Electroretinograms (ERGs) done in aniridia illustrate definite retinal dysfunction. Other clinical aspects related to aniridia are ptosis with reduced levator function and anterior polar cataracts. The PAX6 gene mutation was also associated with early-onset diabetes mellitus and aniridia. Aniridia combined with zonular cataract and polydactyly was also described in a patient with Bardet-Biedl syndrome. Aniridia with sensorineural deafness (cochlear) and aplasia of the patella was also reported; an autosomal-dominant inheritance with 100% penetrance. The WAGR syndrome is associated with obesity. Because of all the associations with other diseases as mentioned above, ophthalmologists should pay more attention to aniridia as a sign of a systematic disease. As aniridia is a global disease and has been reported in all five continents and several countries with different ethnic groups, herein we reviewed this important disorder.

Chronic hepatitis C infection used to be one of the most important burdens on patients with transfusion-dependent beta thalassemia major (TDTM). Chronic active hepatitis reduces quality of life, and liver cirrhosis and cancer shorten life expectancy in many cases. We compared the characteristics of our patients at the Thalassemia Research Center (TRC) regarding hepatitis C infection at two time points.Patients and A review was conducted in a cohort of 390 TDTM patients with a history of at least one blood transfusion in 2014. Type of treatment protocol for hepatitis C virus (HCV) and the number of courses were defined. Descriptive statistics were performed using SPSS software (V16). Screening for HCV started in 1995 at the TRC. Seventy-seven (15%) patients were antibody-positive in 1995. Tests for virus detection were not available at the time. Patients have been examined using serum AST, ALT, bilirubin, PT, PTT, and liver biopsy, and 45 were treated using alpha interferon alone. A second liver biopsy was performed at the end of treatment for 21 patients, and a blinded pathologist compared the histology according to the Knodell score. According to normalization of liver enzymes, the treatment was successful (McNemar test, P < 0.02). Based on the Knodell score, 54%, 31%, and 11% had complete, partial, and no response, respectively. A quantitative test for viremia became available thereafter. Thirteen patients who were resistant to alpha interferon have been treated using “Pegasys”™ ± ribavirin. Ten patients responded; however, three have been resistant and are still viremic. Twenty-seven patients received no treatment. Twenty-two (81.4%) had negative PCR tests. Five viremic patients refused treatment. A second screening test for HCV antibody was introduced in 2001, and, since then, annual screening for HCV antibody has been performed for all patients. No new case has been found since 2001. During the follow-up period, two deaths have been recorded in the cohort; none was a direct consequence of liver disease. Both patients had negative PCR tests for viremia. In 2014, there were 72 patients (52% men) with positive antibody tests, with a mean age of 30.5 ± 5.7 years. They mean age at the first blood transfusion was 2.8 ± 2.5 years. At the time of publishing, 15 patients (3.8%; 95% confidence interval 2 - 5.6) had viremia. Five patients had documented liver cirrhosis. The prevalence of hepatitis C virus has decreased dramatically owing to primary prevention (donor blood screening and discarding infected blood) and antiviral treatment of affected patients. Better clinical management with iron chelating agents and supportive therapy for cirrhotic patients is also in place.

Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by thrombocytopenia, eczema, and recurrent infections. The disease is usually associated with small defective platelets. We described an 18-month-old boy who presented with lower gastrointestinal bleeding, eczema, and recurrent infections. There was pancytopenia with normal-sized platelets. In addition, the CD4 count was significantly low and serum IgA and IgE levels were increased. The diagnosis of WAS was confirmed by detecting a mutation of WAS gene, which was due to a deletion mutation resulting in frameshift (c.177DelT). Usually microplatelets with mean platelet volume of 4-5 fL are seen in WAS, but in this case, the patient had normal-sized platelets with a rare mutation of WAS gene. Therefore, high index of clinical suspicion is needed to diagnose WAS.

Ileocolic intussusceptions and colonic pseudopolyps are well known entities in childhood. Intussusception appears within the first year of life, while pseudopolyps appear in preschool children. In contrast, colocolic intussusception is very rare in infants. A 5-month-old male infant was admitted to our hospital, with severe anemia and episodes of colicky abdominal pain. Abdominal ultrasound examination revealed an intussusception. As ultrasound guided hydrostatic reduction achieved partial reduction, emergency laparotomy was performed, showing a narrow-based polyp, as a lead point of a colocolic intussusception. In contrast to ileocolic intussusception, colocolic intussusceptions usually occur in adults or in late childhood. A solid colonic pseudopolyp, serving as a lead point for colocolic intussusception in an infant, has not been described so far.

Critical congenital heart disease with ductal dependent pulmonary blood flow can present in early neonatal period as a cardiac emergency. We herein reported a case of critical pulmonary stenosis in a newborn who presented with cyanosis and breathlessness. Initially managed with prostaglandin, an emergency balloon pulmonary valvuloplasty proved to be an effective and safe option.

Context: Nosocomial infections (NIs) are the most common life-threatening complicationsand leading cause of morbidity and mortality in pediatric patients with burn injuries. It is estimated that annually two million infections, 90000 deaths, and 4.5 billion USD in excess healthcare costs are imposed by NIs. Herein, we reviewed the articles related to NIs in Iranian pediatric patients with burn injuries. Evidence Acquisition: A review of epidemiologic studies on NI in pediatric patients with burn injuries in Iran was performed by searching studies indexed in PubMed, Google scholar, Iranmedex, Magiran, SID databases, published in English language in 2014. Keywords for searching included “Nosocomial Infections”, “Hospital- acquired infection”, “Healthcare- associated infections”, “burn”, “children”, “pediatric”, and “Iran”. All articles related to NIs in pediatric patients with burn injuries or about general population with burn injuries, which included pediatric population up to the age 18 years in Iran, were included. Articles out of the definition for age group or lack of significant data, outpatients, and patients selected for reconstructive surgeries were excluded. Of 43 reviewed articles, nine eligible articles were selected. The male to female ratio was 1.6:1. The age ranged from birth to 18 years with the mean of 3.4 years. Overall incidence of NIs was 20.94%. Pseudomonas aeruginosa (30.39%), Klebsiella pneumonia (17.54%), Acinetobacter (17.47%), and Staphylococcus aureus (14.98%) were the most common prominent isolates with high antibiotic resistance isolated from the cultures of different sites of infections including burn wound. Vancomycin was highly specific antibiotic against Gram-positive bacteria isolates. All spices of Acinetobacter were multidrug resistant. The mean of mortality rate was 8.75%. In spite of higher incidence of NIs in children with burn injuries, there are no well-described benchmark rates in this population. Further epidemiologic studies to identify knowledge gap regarding NIs in pediatric patients with burn in Iran is recommended.

Context: Chronic inflammatory demyelinating polyradiculopathy (CIDP) is an acquired and autoimmune neuropathy, characterized by a chronic, rapidly progressive, symmetric weakness. In children, abnormal gait is as a first symptom of muscle weakness.Evidence Acquisition: The diagnosis of CIDP is on the basis of clinical characteristics, electrodiagnostic that shows the severity of the disease, lumbar puncture and spine magnetic resonance imaging (MRI). The first-line treatments in childhood CIDP are intravenous immunoglobulin (IVIG), corticosteroids, and plasmapheresis. Response to first-line therapies is usually satisfactory; nevertheless, recommendations regarding the choice of second-line therapy can only be prepared on the basis of the existing practice described in some of the case reports. This review demonstrated the clinical presentation, diagnosis, and treatment of childhood CIDP.

Aminoglycosides (AGs) are frequently used in pediatric settings, especially for empiric treatment of early-onset neonatal sepsis. Although AGs are used for several decades, the optimum method of administration and their dosing schemes needs more clarification. The risks of ototoxicity and nephrotoxicity, two main toxicities associated with AGs, have been contributed to the peak and trough plasma levels, respectively. One approach to decrease these potential toxicities of AGs is to administer higher doses with a prolonged interval, named extended-interval dosing (EID). Post-antibiotic effect (PAE) and concentration-dependent killing of AGs provide rational basis for the efficacy of EID. PAE refers to the extended bactericidal activity of AGs against many Gram-negative organisms after the drug was removed by metabolism. One concern is that the higher initial peak concentration with EID may be accompanied with more toxicities, especially ototoxicity. It was demonstrated that due to saturation of binding site of AGs in renal and cochlear tissues, transiently higher concentration of AGs does not cause additional nephrotoxicity or ototoxicity. Experience and clinical evidence regarding EID in pediatrics is suboptimal. In this review, we presented the rational and studies focusing on EID in pediatric setting. The overall finding of trials is that in pediatric setting, EID is a safe and effective dosing method. The risk of serum drug concentration outside the therapeutic range is lower in neonates treated with EID, leading to less need of therapeutic drug monitoring (TDM) with EID. Moreover, there are evidences supporting lower chance of bacterial resistance with EID compared with traditional dosing approach.

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a neurologic disorder characterized by macrocephaly within the first year of life and the delayed onset of motor function deterioration with ataxia and spasticity. Magnetic resonance imaging of the brain is diagnostic and shows diffusely abnormal, mildly swollen cerebral white matter and subcortical cysts. MLC exhibits an autosomal recessive mode of inheritance. Two genes have been associated with MLC. The first and most important gene is MLC1, The other gene involved is HEPACAM. We studied a Mexican patient with a compatible diagnosis of MLC. The patient exhibited the c.353C > T, p.Thr118Met mutation, and both parents were carriers for the same mutation. To the best of our knowledge, no other cases of MLC have been reported in Mexican patient. This patient exhibited rapid deterioration of motor function. A diagnosis of MLC, which can be facilitated by imaging studies, should be considered in all patients who exhibit global developmental delay.

Context: Allergic diseases such as allergic rhinitis (AR) and immune-mediated inflammatory diseases are the most common chronic diseases among children. Although the cause of AR has yet to be clearly identified, genetic and environmental factors are known to play an important role in the development of the disease.Evidence Acquisition: In a more recent classification, AR is categorized as intermittent and permanent. Vitamin D has a known and important role in the absorption of calcium and preservation of bone density. The prevalence of vitamin D deficiency in children is reported to be between 30% and 50% in the world. Vitamin D confers the growth and development of the immune system including the development of regulatory T cells. Two-thirds of the reviewed articles show a correlation between serum levels of vitamin D and allergic diseases, while the reaming ones demonstrate no correlation between vitamin D and AR and some even report a rise in the incidence of AR following the use of vitamin D supplement. It seems that further clinical trials and meta-analytic studies are necessary to confirm this correlation. The present study aimed at reviewing vitamin D deficiency in children with AR.

Allgrove’s syndrome (AS) is a rare cause of adrenal insufficiency inherited in an autosomal recessive pattern. Usually the disease is manifested during the first decade of life with severe hypoglycaemia, which can lead to sudden death. Here we described two cases of Allgrove’s syndrome; the first case was an 8-year-old male admitted to hospital for evaluation of seizure and gait abnormality and the second case was a 4-year-old boy admitted for evaluation of hyperpigmentation of his skin and buccal mucosa for eight months, also we made a review of literature. Alacrima is considered to be the earliest clinical manifestation of Triple A syndrome and early recognition of glucocorticoid deficiency would prevent hypoglycaemic convulsions, neurological sequelae and death. A carful replacement of glucocorticoids is critical to avoid adrenal crisis and allow normal growth and development.