Celiac Disease in Children with Moderate-to-Severe Iron-deficiency Anemia

Objective

To evaluate the proportion of children with moderate to severe iron-deficiency anemia who have associated celiac disease.

Methods

This cross-sectional analytical study was conducted among children aged 1 to 12 years of age with moderate-to-severe iron deficiency anemia and control children without anemia.Serum IgA-tissue trans-glutaminase levels were assessed in both cases and controls. All children with positive celiac serology underwent upper gastrointestinal endoscopy and duodenal biopsy; biopsy finding of Marsh grade 3 was considered positive for celiac disease.

Results

There were 152 anemic children and 152 controls with mean (SD) hemoglobinof 7.7 (1.8) and 12.2 (0.74) g/dL, respectively. 16 (10.5%) cases and 3 (2%) control patients had positive serology for celiac disease [OR (95% CI) 5.33 (1.52-18.67), P=0.007]. Six (3.9%) children with iron-deficiency anemia and none of the controls had biopsy features diagnostic of celiac disease.

Conclusion

In the Northern Indian tertiary-care hospital outpatient setting, Celiac disease was associated with 4% of children presenting with moderate-to-severe anemia.

     

Cardiac Spectrum,Cytogenetic Analysis and Thyroid Profile of 418 Children with Down Syndrome from South India: A Cross-sectional Study

Objective

To describe the spectrum of congenital heart disease in children with Down syndrome and their cytogenetic profile (and that of parents of those with translocation), and thyroid profile.

Methods

A cross sectional study was conducted in 418 consecutive patients with Down syndrome attending the Department of Pediatric Genetics from a tertiary care centre in Kerala with a comprehensive Pediatric Cardiac Program, from November 2005 through April 2012. All children were offered cytogenetic analysis and were subjected to echocardiography. Parental karyotyping was offered for children with translocation type of Down syndrome. The thyroid profiles of all children were checked at the first visit and once every 6 mo during follow up.

Results

Congenital heart disease was present in 256 (63.4 %) of 404 children with Down syndrome. Ventricular septal defect (72; 28.1 %) was the commonest, followed by atrio-ventricular septal defect (70; 27.3 %) and patent ductus arteriosus (43; 16.8 %). Surgical correction was accomplished in 104 (40.6 %) with excellent intermediate-term outcomes. Three hundred eighty seven of 418 children (92.6 %) underwent cytogenetic tests. The abnormalities included non-disjunction (340, 87.8 %), translocation (33, 8.5 %) and mosaicism (12, 3.1 %). Hypothyroidism was detected in 57 children (13.6 %).

Conclusions

The prevalence of congenital heart disease in children with Down syndrome in Kerala is the highest reported (63.4 %). Ventricular septal defect is the most common heart disease in the present study. The results highlight the changing attitudes of families towards the surgical correction of congenital heart disease in children with Down syndrome. Prevalence of hypothyroidism in Down syndrome in Kerala is 13.6 %.     

Mass population screening for celiac disease in children: the experience in Republic of San Marino from 1993 to 2009

Background

Prevalence of celiac disease in developed countries is assessed about 1:100–1:150. The real prevalence is unknown because mass screenings are expensive and difficult to organize. Moreover celiac disease can affect people at every age and studies on asymptomatic subjects at different ages are not comparable. In this study we wanted to know the real prevalence of celiac disease in children in the Republic of San Marino. We also analysed concordance of different tests used and costs of mass screening.

Methods

The study started in 1993. From 1993 to 1997 children aged 6, 10 and 14 were screened. Since 1997 only children aged 6 were monitored, in order to have a homogeneous population. In fact, every child born since 1980 was taken into account. Children were recruited by classroom lists of students for general paediatric examination. Until 2005 the screening test was based on dosage of antibodies anti-gliadin (AGA) IgA and IgG on venous blood. Since 2006 these tests were replaced by anti-transglutaminase IgA antibodies (ATTG). Anti-endomysial antibodies (EMA) were performed if result of any between either AGA or ATTG tests was positive or borderline; if EMA was positive, then an endoscopy with histological examination was performed to confirm the final diagnosis.

Results

Attendance to paediatric examination was 96%, submission to blood test was 87%. 42 on 5092 (0,8%; 1:125) children resulted affected by celiac disease. Histology always confirmed diagnosis by serology except for two cases. AGA test (until 2005) yielded 28 on 4304 (0,7% 1:143); ATTG test (since 2006) revealed 14 positive cases on 788 (1,8%; 1:55) leading to a larger percentage of diagnosis. EMA antibodies always confirmed positivity of ATTG.

Conclusions

Prevalence of celiac disease in children of Republic of San Marino is comparable to other North-European Countries. Sensitivity of ATTG proved much higher than that of anti-gliadin antibodies. Concordance between ATTG and EMA was 100%. Concordance between serology and histology was approximately 100%. Cost of screening was yearly about 5000 euros (250 children screened every year).

     

Survival Analysis of Down Syndrome Cohort in a Tertiary Health Care Center in India

Objective

To identify the major causes of death in Down Syndrome (DS), the ages at which mortality rates are the highest and recognize factors associated with it.

Methods

The prospective cohort-based study was carried out in a tertiary health care center. Children with DS (n?=?543) counseled at the Center of Medical Genetics, Sir Ganga Ram Hospital from 2005 through 2009 were followed up in year 2010. Survival curves and Cox’s proportional hazards regression analysis were used to determine the effect of different variables on survival.

Results

Total mortality was 13 %, of which 80.3 % was in children less than 2 y of age. Presence of congenital heart disease (CHD) increased the risk of mortality by 5.7 folds (p?=?0.001). A definitive survival benefit after cardiac intervention was noted, although it differed with the type of CHD. Sex, maternal age at time of birth and karyotypes did not show a significant correlation with survival.

Conclusions

The higher DS infant mortality observed in the present study could be attributed to financial constraints of the families and misconceptions amongst health professionals. It is recommended that a nation-wide DS registry be created to study the morbidity and mortality in Down syndrome from birth. The findings of this study will help clinicians in making management decisions and enable better counseling.     

Prevalence of Celiac Disease in Iranian Children with Recurrent Abdominal Pain Referred to a Pediatric Referral Center

Objective

Clinical features of Iranian children with celiac disease (CD) are still unknown and there is scant information about atypical presentation of celiac disease from Iran. The aim of this study was to determine prevalence of CD in Iranian children presenting with functional abdominal pain (FAP).

Methods

In this cross-sectional study, 301 children affected by FAP were screened for CD by anti-tissue transglutaminase antibody (tTG IgA). IgA antibody was also measured to exclude IgA deficiency. The antibodies were measured by enzyme linked immunosorbent assay. Diagnosis of CD was confirmed by duodenal biopsy that was scored according to the Marsh classification in cases with abnormal titer of tTG antibody.

Findings

A total of 301 children (138 males, 163 females) with FAP were studied. Endoscopic duodenal biopsy was taken for patients with positive and borderline tTG test. Two out of 301 cases were IgA deficient and celiac disease was suspected for one of them based on histological findings. Four out of 299 patients with normal IgA had abnormal tTG titer; intermediate ranges (16–23 U/ml) were detected in 1 and positive ranges (≥24 U/ml) in 3 cases. CD was suggested in all patients with abnormal titer of tTG (1.33%) based on histological findings.

Conclusion

The prevalence of celiac disease in children with FAP is estimated 1.3% (nearly 2 times higher than in normal population) in Iran.     

Assessment of cardiac function in absence of congenital and acquired heart disease in patients with Down syndrome

Background

Extra genetic material in patients with Down syndrome (DS) may affect the function of any organ system. We evaluated cardiac functions using conventional tissue Doppler and two-dimensional speckle tracking echocardiography in patients with DS in the absence of congenital and acquired heart disease in patients.

Methods

A total of 115 patients with DS between 6 and 13 years of age with clinically and anatomically normal heart and 55 healthy children were included in this cross-sectional study. DS was diagnosed by a karyotype test. Patients with mosaic type were not included in this study. Systolic and diastolic functions were evaluated by echocardiography.

Results

Pulsed waved Doppler transmitral early/late inflow velocity (E/A), tissue Doppler mitral annular early/late diastolic peak velocity (Ea/Aa), transtricuspid E/A and tricuspid valve annulus Ea/Aa, pulmonary venous Doppler systolic/diastolic (S/D) wave ratio were lower in patients with Down syndrome than in the control group (P=0.04, P=0.001, P<0.05, P<0.001, P<0.001, respectively). Mitral and tricuspid annular Ea were lower in patients with DS (P<0.001). The right and left ventricular myocardial performance indexes were higher in patients with DS than in the controls (P<0.01). They had significantly higher left ventricular mass, ejection fraction, the mitral annular plane systolic excursion values. However, the Down syndrome group compared with the controls had a lower strain values examined by two-dimensional longitudinal speckle-tracking strain echocardiography.

Conclusion

These findings suggest conventional tissue Doppler and two-dimensional longitudinal speckletracking strain echocardiography were useful methods of investigating ventricular function and identifying a higher incidence of biventricular dysfunction in patients with Down syndrome compared with the healthy controls.

     

Celiac disease in relation to immunologic serum markers, trace elements, and HLA-DR and DQ antigens in Swedish children with Down syndrome.

BACKGROUND: An association between Down syndrome and celiac disease has been reported. This study was conducted to determine the association between childhood celiac disease and Down syndrome in the county of Uppsala, Sweden. METHODS: All 76 children with Down syndrome (1-18 years) were screened for the occurrence of anti-gliadin antibodies (AGA) and anti-endomysium antibodies (EMA). Twelve children with suspected celiac disease were investigated further. RESULTS: Increased levels of both IgA and IgG AGA were found in 26% of the children and of EMA in and 5 of 76. Celiac disease was diagnosed in at least three of the children (3.9%; 95% confidence interval 0%-8.3%), and it could have been present in as many as eight. Three of the five EMA-positive children with suspected celiac disease had the HLA phenotype DR3, DQ2. CONCLUSIONS: The results show that determination of EMA is more useful as a screening test for celiac disease and for follow-up than is AGA in children with Down syndrome. The present study also confirms that celiac disease is overrepresented among Swedish children with Down syndrome and that celiac disease should be considered in all persons with Down syndrome.     

Levels of Non Enzymatic Antioxidants in Down Syndrome

Objectives

To confirm the clinical diagnosis of Down syndrome by chromosomal analysis and to explore the oxidative stress in children with Down syndrome by estimating the levels of non enzymatic antioxidants like reduced glutathione(GSH) and total antioxidants status (TAS).

Methods

The study included 31 clinically diagnosed children with Down syndrome with equal number of age and sex matched controls. Trisomy 21 was confirmed by conventional lymphocyte cell culture. Erythrocytic reduced glutathione (GSH) and plasma total antioxidant status (TAS) were measured sphectrophotometrically.

Results

The levels of erythrocytic reduced glutathione (GSH) and plasma total antioxidant status (TAS) were significantly reduced in children with Down syndrome.

Conclusions

Children with Down syndrome have elevated levels of oxidative stress . Hence antioxidant therapy can be beneficial among them.

     

Diagnosis, misdiagnosis, and associated diseases of achalasia in children and adolescents: a twelve-year single center experience

Purpose

Although achalasia is a rare disorder in children, its symptom may mimic common childhood diseases. This study aimed to assess the diagnosis and management of achalasia in children and adolescents in a Brazilian single center during a 12-year period.

Methods

Patients with achalasia were identified from a database built during the period of January 2000?CJanuary 2012 from a Pediatric Gastroenterology reference center. Information regarding demographic data, clinical symptoms, diagnosis, treatment, and long-term follow-up were described.

Results

Thirteen patients were studied; median age was 7 (1?C14)?years. Most frequent symptoms were vomiting (84.6?%) and dysphagia (69.2?%). Weight loss occurred in 46.0?% of patients and chronic cough in 46.1?%. Associated disorders were Down??s syndrome, Allgrove syndrome, and congenital central hypoventilation syndrome. Achalasia was misdiagnosed with anorexia nervosa. Six patients were previously treated as having gastroesophageal reflux disease and asthma. Five patients had pneumatic balloon dilation as initial therapy whereas five had esophageal myotomy. Finally, 11 patients had surgical therapy with a favorable follow-up.

Conclusion

Achalasia symptoms may mimic common diseases in children, and therefore, may delay the diagnosis. This study emphasizes the importance of the clinical symptoms for the diagnosis of achalasia, mainly in those cases with associated disorders.     

Frequency of celiac disease in individuals with Down syndrome in the United States

Ninety-three individuals with Down syndrome (DS) were screened to investigate the prevalence of celiac disease (CD) in the United States. Five of the 93 individuals were antiendomysial antibody (EMA) positive. Of the 5 who tested positive for EMA, 4 were biopsied, 1 refused biopsy. Three of the 4 individuals biopsied manifested changes of CD on small bowel biopsy. This gives a frequency of 3.2% of confirmed CD in our DS individuals and suggests the need for periodic screening for celiac disease in this population.     

Duodenal haematoma following endoscopy as a marker of coagulopathy

Background

Intramural duodenal haematomas (IDHs) are a rare complication of endoscopic biopsy but can cause significant morbidity and mortality, including duodenal obstruction, hospitalization and needing intravenous feeding. They are extremely uncommon in those with normal haematology.

Objective

To describe the occurrence of IDHs following endoscopic biopsy in our institution.

Materials and methods

We identified three patients who developed a post biopsy IDH during an 18-month period (2010–2012) in a retrospective search of our hospital pathology and imaging databases.

Results

All three children had complex medical problems and presented with gastrointestinal symptoms including severe abdominal pain, reflux, poor feeding and abnormal gut transit time. All underwent normal upper GI endoscopy with duodenal biopsy. Following endoscopy, they presented with intermittent GI obstruction with severe abdominal pain, distension and bilious vomiting or symptoms of pancreatitis, had imaging features of IDH and were managed conservatively making a full recovery. Initial haematology including platelet counts were normal, but two children were subsequently found to have platelet dysfunction and the third to have an unclassified coagulopathy.

Conclusion

IDHs may be the presenting factor in children with unsuspected bleeding problems. We present these findings to raise awareness of the imaging features and clinical impact of these cases because better understanding of these risk factors may help to avoid these complications in children in the future.     

Changing Spectrum of Celiac Disease in India

Objective

Celiac disease is an important cause of chronic diarrhea, failure to thrive, and anemia in children. Mode of presentation of celiac disease has changed in last few years. Study was conducted to determine the mode of clinical presentation of a large group of patients with celiac disease and whether there has been a change in the presentation with the time.

Methods

A prospective study was conducted on 134 children diagnosed to be having celiac disease in the Pediatric Gastroenterology, PGIMER, Chandigarh, from July 1st 2006 to December 31^st 2007. Their detailed clinical profile was recorded on a pretested proforma and all patients underwent hemogram, liver function tests, IgA anti-tissue transglutaminase (anti tTG), and upper gastro-intestinal endoscopy.

Findings

Major symptoms at presentation were diarrhea (54.5%), failure to thrive (52.2%), abdominal distension (41%), anemia (40%), pain abdomen (19.4%), vomiting (15.7%) and constipation (2.2% of cases). 60.4% of patients had short stature. Anemia was microcytic hypochromic in 79.1% of patients, and dimorphic in 20.9%. Serum transaminases were raised in 38.8% of cases. The mean serum anti tTG level was 164.24U/ml (Range 0-749 U/ml) and levels correlated with the severity of small intestinal damage on biopsy. 15 patients were negative for the serology but 8 out of them had IgA deficiency and all had histopathology suggestive of celiac disease.

Conclusion

Classical presentation of celiac disease is less commonly encountered these days probably related to the more widespread use of serologic testing and early recognition of atypical manifestations of celiac disease.     

Joint involvement in children with celiac disease

Objective

To determine early joint involvement as detected by ultrasonography in children with newly diagnosed celiac disease, and in children with celiac disease on gluten-free diet for more than 6 months.

Methods

Cross-sectional comparative study evaluating joint abnormalities by ultrasonography.

Results

Ultrasonography showed abnormalities in 19 out of 60 (31.7%) children with newly diagnosed celiac disease as compared to 2 (3.3%) out of 60 in those on a gluten-free diet for more than 6 months.

Conclusion

Subclinical synovitis as detected by ultrasound is a frequent finding in newly diagnosed children with celiac disease.

     

Efficacy of fixed low dose hydroxyurea in Indian children with sickle cell anemia: A single centre experience

Introduction

Data on the efficacy of hydroxyurea (HU) in Indian children with sickle cell anaemia (SCA) is limited. Hence, we have evaluated the efficacy of fixed low dose HU in Indian children.

Methods

The study cohort consisted of 144 children (<18 years of age) with SCA having severe manifestations (≥3 episodes of vasocclusive crisis or blood transfusions, or having ≥1 episode of acute chest syndrome or cerebrovascular stroke or sequestration crisis) who were started on fixed low dose HU (10 mg/kg/day). They were followed up for two years and monitored for the hematological and clinical efficacy and safety.

Results

There was significant increase in the fetal hemoglobin level (HbF%), total hemoglobin and mean corpuscular volume. Vasoocclusive crises, blood transfusions, acute chest syndrome, sequestration crises and hospitalizations decreased significantly. Baseline HbF% had significant positive correlation with HbF% at 24 months. There was significant negative correlation between baseline HbF% and change in HbF% from baseline to 24 months. No significant correlation was found between HbF% at baseline and clinical event rates per year after HU. No major adverse events occurred during the study period.

Conclusion

Fixed low dose HU is effective and safe in Indian children with SCA.     

Inner ear anomalies seen on CT images in people with Down syndrome

Background

Although dysplasia of inner ear structures in Down syndrome has been reported in several histopathological studies, the imaging findings have not been widely studied.

Objective

To evaluate the prevalence and clinical significance of inner ear anomalies detected on CT images in patients with Down syndrome.

Materials and methods

The temporal bone CT images of patients with Down syndrome were assessed for inner ear anomalies; clinical notes and audiograms were reviewed for hearing loss. Logistic regression models were employed to identify which CT findings were associated with sensorineural hearing loss (SNHL).

Results

Inner ear anomalies were observed in 74.5% (38/51) of patients. Malformed bone islands of lateral semicircular canal (LSCC), narrow internal auditory canals (IACs), cochlear nerve canal stenoses, semicircular canal dehiscence (SCCD), and enlarged vestibular aqueducts were detected in 52.5% (53/101), 24.5% (25/102), 21.4% (21/98), 8.8% (9/102) and 2% (2/101) of patients’ ears, respectively. IAC stenosis had the highest odds ratio (OR?=?5.37, 95% CI: 1.0–28.9, P?=?0.05) for SNHL.

Conclusion

Inner ear anomalies occurred in 74.5% of our population, with malformed (<3?mm) bone island of LSCC being the most common (52.5%) anomaly. Narrow IAC was seen in 24.5% of patients with Down syndrome and in 57.1% of ears with SNHL. High-resolution CT is a valuable for assessing the cause of hearing loss in people with Down syndrome.     

Efficacy of levamisole in children with frequently relapsing and steroid-dependent nephrotic syndrome

Objectives

To assess the efficacy of levamisole in frequently relapsing nephrotic syndrome and steroid-dependent nephrotic syndrome.

Study Design

Retrospective analysis of hospital case records.

Setting

Pediatric nephrology department of a tertiary referral pediatric hospital.

Participants

62 children with frequently relapsing nephrotic syndrome and 35 children with steroid-dependent nephrotic syndrome.

Methods

Case records of children who were diagnosed as steroid-dependant or frequently-relapsing nephrotic syndrome from June 2004 to June 2011, were reviewed. Levamisole was given daily (2 mg/kg/d) along with tapering doses of alternate day steroids after remission on daily steroids.

Results

Levamisole was effective in 77.3% children with a better (80.6%) efficacy in frequently relapsing nephrotic syndrome. A total of 34 children completed 1 year follow-up post levamisole therapy. The cumulative mean (SD) steroid dose 1-year before therapy was 4109(1154) mg/m² and 1-year post therapy was 661 (11) mg/m² (P<0.001). The relapses were also less during the period of post-levamisole therapy.

Conclusion

Levamisole is an effective alternative therapy in frequently relapsing and steroid-dependent nephrotic syndrome.     

Disorders of midgut rotation: making the correct diagnosis on UGI series in difficult cases

Background

In some series of malrotation small numbers of children are described in whom the position of the duodenojejunal flexure was considered to be normal on straight anteroposterior (AP) view of an upper gastrointestinal (UGI) series.

Objective

The purpose of this study was to illustrate children with disorders of midgut rotation in whom the diagnosis was difficult because on the straight AP view of the UGI series the duodenojejunal flexure was either not clearly depicted or was projected to the left of the midline close to its expected normal position at or close to the level of the duodenal cap.

Materials and methods

We reviewed 111 children with malrotation to determine the frequency that duodenojejunal flexure was not clearly depicted or was close to normal position.

Results

Seven patients had close to normal position of duodenojejunal flexure on AP view. The correct diagnosis was made on initial UGI series in four patients based on other features on AP and lateral views. In two of the other three patients, a repeat UGI series facilitated the correct diagnosis. In the final patient, an abnormal position of a nasojejunal tube suggested the correct diagnosis.

Conclusion

Accurate diagnosis of anomalies of midgut rotation requires careful assessment of the entire duodenal sweep on both AP and lateral views to avoid false-negative interpretations.     

Epidemiological Features of Aplastic Anemia in Indian Children

Objectives

To study the socio-demographic profile and clinico-hematological features of aplastic anemia in children presenting at a single institution over 5 y.

Methods

Patients below the age of 15 y presenting with features of aplastic anemia were included in the study. Epidemiology, clinico-hematological features and treatment received were recorded in all the cases. Serology for hepatitis A, B, C, E, EBV, parvovirus and HIV was carried out. Cytogenetic studies were available in approximately half of the patients.

Results

One hundred eighty five patients were diagnosed with aplastic anemia. Ten patients with inherited bone marrow failure syndrome (IBMFS) were excluded. Median age was 8 y (range 4–14 y) with a male to female ratio of 2.4:1. Pallor (100 %) followed by bleeding manifestations (83.8 %) and fever (73.5 %) were most common presenting symptoms. One hundred twenty patients (70 %) were classified as severe, 36 (21 %) very severe and 17 (9 %) non-severe aplastic anemia. Viral markers for parvovirus, Epstein barr virus and hepatitis were positive in 25.8 %, 20 % and 6.7 % patients respectively. Six patients had history of varicella infection in recent past (within 6 mo). Very few patients (30) could afford immunosuppressive therapy (IST) and had suboptimal response (29.7 %).

Conclusions

Majority of patients had idiopathic aplastic anemia. Very severe aplastic anemia and severe aplastic anemia were frequent. Few patients received IST and had suboptimal response. There is need to establish a national registry for aplastic anemia.     

Neuroimaging findings in children with Keutel syndrome

Background

Keutel syndrome is a rare autosomal-recessive condition characterized by abnormal cartilage calcification. Neuroimaging findings associated with this condition have been randomly described in the literature.

Objective

To systematically evaluate the neuroimaging findings in a series of children with Keutel syndrome to broaden our base of knowledge.

Materials and methods

Four children with confirmed Keutel syndrome were reviewed for the brain, head and neck imaging findings.

Results

Three of the four children, all siblings, showed evidence of moyamoya syndrome. All four siblings had pinna cartilage calcification.

Conclusion

We propose that Keutel syndrome be considered and included among the secondary causes of moyamoya syndrome. In children with petrified auricle and neurological symptoms, Keutel syndrome should be considered and brain MRI with MRA is required.