Uchyłek Meckla u dzieci – ocena trudności diagnostycznych na podstawie doświadczeń własnych

Introduction

Abdominal pain is a common symptom encountered in medical practice. In some situations a diagnosis of abdominal pain requires close collaboration of a pediatrician and a pediatric surgeon, especially when the Meckel's diverticulum is suspected.

Aim of study

The aim of the study is to present diagnostic difficulties in patients suffering from the Meckel's diverticulum on the basis of own experience.

Materials and methods

An analysis was conducted on the basis of medical documentation of patients hospitalized at the Paediatric Surgery Department of the Provincial Specialist Hospital in Radom in the period from 2004 to 2011. The analysis included clinical, laboratory, imaging and endoscopic examination.

Results

The Meckel's diverticulum was diagnosed in 61 children out of 1021 patients who underwent laparotomy. It did not show any symptoms in 39 patients, but it caused abdominal pain in 22 of them. Within the group of 22 patients subject to the analysis, abdominal pain accompanied diverticulitis in 11 patients. In 9 children, Meckel's diverticulum caused mechanical occlusion of the alimentary tract whereas in 2 patients it co-existed with intensive bleeding from the lower alimentary tract.

Conclusions

A considerable changeability of clinical manifestation in patients with diagnosed Meckel's diverticulum can be observed. Interview and physical examination of a patient was of great significance in differential diagnosis of acute inflammation occurring within the abdominal cavity, which might be caused by Meckel's diverticulum. However, the final diagnosis was determined during an operation.     

Primary congenital bladder diverticula: Where does the ureter drain?

Background:

Primary congenital bladder diverticulum (PCBD) is related to a deficient detrusor layer allowing out-pouching of the bladder mucosa through the inadequate muscularis wall. We aimed to review our experience with symptomatic PCBD in order to correlate clinical findings with anatomical aspects and to present late outcome.

Materials and Methods:

We reviewed all patients operated in our institution since 2004. We evaluated the charts for complaints, radiological exams, method of treatment, complications and length of follow-up.

Results:

We treated 10 cases (11 renal units - [RU]), predominantly males (9/10), mean age at surgery of 5.3 years. All patients had significant urological complaints presenting either with antenatal hydronephrosis (4) or febrile urinary tract infection (5) and urinary retention in one. The ureter was found implanted inside the diverticulum in 8/11 RU. An extravesical psoas-hitch ureteroneocystostomy and diverticulum resection was performed in 10/11 cases, whereas 1 case was treated intravesically based on surgeon''s preference without performing cystoscopy. Mean follow-up was 34.1 months (1-120) without complications.

Conclusions:

PCBD is an uncommon diagnosis and has a high probability of drainage inside the diverticulum (72.7%). We recommend the extravesical approach associated with diverticulectomy and ureteroneocystostomy as the preferred technique to treat this abnormality.Key words: Bladder, diverticula, infection, paediatric, voiding dysfunction     

Hirschsprung's Disease: a Clinical and Pathologic Study in Iranian Constipated Children

Objective

Hirschsprung''s disease (HD) is a complex disorder resulting from absence of ganglion cells in the bowel wall leading to functional obstruction and bowel dilatation proximal to the affected segment. The aim of our study was to evaluate rectal biopsies from constipated children in different age groups to see in which age it is more likely to encounter HD to avoid unnecessary rectal biopsy.

Methods

Records of all children with chronic constipation undergoing a rectal biopsy to exclude HD were obtained from the files of Children''s Medical Center in Tehran, Iran. A detailed retrospective demographic review, including age of beginning of signs and symptoms was made of all cases.

Findings

Totally, 172 biopsies were taken from 168 children in a five year period, of which 127 cases (75%) had HD. The mean age of constipated patients at biopsy was 39 months and the mean age of patients with proven HD was 18 months. Males were affected more than females. Congenital anomalies associated with HD were found in 9.6%. In 85 (91%) cases constipation had begun in neonatal period.

Conclusion

Our data supports previous studies that if constipation begins after the neonatal period, the child is unlikely to have HD. In neonates delay in meconium passage is the most important clinical sign of HD.     

The Role of Cow's Milk Allergy in Pediatric Chronic Constipation: A Randomized Clinical Trial

Objective

Cow''s milk allergy has different presentations in children and can cause functional bowel symptoms such as chronic constipation. The aims of this study were to investigate the role of cow''s milk allergy as a cause of chronic constipation and effect of cow''s milk free diet (CMFD) on its treatment in children.

Methods

We performed a randomized clinical study comparing CMFD with cow''s milk diet (CMD) in two groups each consisting of 70 patients (age range, 1-13 years) with chronic functional constipation (defined as Rome III criteria). All subjects had been referred to a pediatric gastroenterology clinic and had previously been treated with laxatives for at least 3 months without success; also all 140 patients performed skin prick test. The case group received CMFD for 4 weeks. After that they received CMD for 2 extra weeks. The control group received CMD for whole 6 weeks. A response was defined as decreased in signs and symptoms that not fulfilled Rome III criteria after 4 weeks of CMFD and came back to Rome III criteria after 2 weeks of CMD challenge.

Findings

After 4 weeks 56 (80%) patients of the case group responded in comparison to 33 (47.1%) patients in the control group (P=0.0001). In the case group after 2 weeks challenge 24 out of 56 (42.8%) responders developed constipation according to Rome III criteria. With other words, the frequency of cow''s milk allergy among constipated patients was 80%. Only one patient had positive skin prick test.

Conclusion

In children, chronic constipation can be a manifestation of cow''s milk allergy. At present, although several aspects must be further investigated, a therapeutic attempt with elimination diet is advisable in all children with constipation unresponsive to correct laxative treatment.     

Cerebellar Staphylococcal Abscess Accompanied with High Alfa-Fetoprotein in a Young Infant

Background

Brain abscess in young infants is extremely rare and usually associated with a previous history of bacterial meningitis or septicemia.

Case Presentation

Here we report a cerebellar abscess mimicking brain tumor with atypical clinical and paraclinical presentations. A two-month old previously well-baby boy was referred to us with persistent vomiting, strabismus and developmental regression. The brain imaging showed a right cerebellar mass with multiple small cysts inside the lesion. Elevated serum alfa-fetoprotein associated with cystic and solid posterior fossa mass proposed the preoperative diagnosis of teratoma but tumor cells were not found inside the pathology specimen. The culture of the sample was positive for staphylococcus aureus.

Conclusion

The interest of this case lies in the atypical features of clinical and radiological evaluations in a young infant associated with an abnormal alfa-fetoprotein level of serum.     

Single-port laparoscopic surgery in children: A new alternative in developing countries

Background:

Single-incision laparoscopic surgery (SILS) is a technique in laparoscopic surgery, which is based on the idea that all the laparoscopic trocars are inserted through a single umbilical incision. This paper documents a single-centre experience, which performed the single-port surgery in children using an improvised trans-umbilical glove-port with conventional rigid instruments.

Materials and Methods:

We prospectively studied the outcomes of SILS procedures between January 2013 and June 2014. Materials required making our homemade trans-umbilical port consisted on: A flexible ring, a rigid larger ring, one powder-free surgical glove, a wire-to-skin and standard standards laparoscopic trocars.

Results:

A total of 90 consecutive procedures had been done in our institution: 15 girls and 75 boys (mean age: 7.5 years). We used SILS on 59 appendectomies with an average operative time of 48 minutes. We needed conversion to conventional surgery in three cases (two with perforated appendicitis and one for difficulty to mobilize the appendix). SIL cholecystectomy was performed for four patients with symptomatic cholelithiasis; mean operative time was 60 min. All patients were discharged on postoperative day 2. Eighteen boys with non-palpable testis were explored and treated. Other procedures included: Varicocelectomy (n = 2), intra-abdominal lymph node biopsies (n = 2), ovarian cystectomy (n = 1), ovarian transposition (n = 1), aspiration of renal hydatid cyst (n = 1), explorative laparoscopy in research to Meckel''s diverticulum (n = 1) and intestinal intussusceptions (n = 1). No post-operative complications were seen in all cases.

Conclusions:

SILS in the paediatric population using conventional rigid instruments is feasible, safe and effective. It may be an alternative to the costly commercially available single-port systems especially in a developing country like Tunisia.Key words: Single-incision laparoscopy, children, rigid instruments     

Dental Problems in Hypophosphatemic Rickets,a Cross Sectional Study

Objective

Hypophosphatemic rickets is an uncommon metabolic bone disorder which affects all ages and both sexes. It is characterized by low concentration of serum phosphate levels, impairment of mineralization of bone matrix and teeth with variable etiology. Dental problems in this disorder have not been described well in previous studies.

Methods

All hypophosphatemic rickets patients who came to a referral clinic during 2008-2010 enrolled in this study. All patients had low phosphorous and high ALP, normal PTH and 25-hydroxy-vitamin D and normal or low level of serum calcium. After diagnosis all patients were examined by a dentist for enamel hypoplasia, taurodontism, dental abscess, gingivitis, dental caries, and dentition delay.

Findings

Nineteen patients were enrolled in this study. The average age of the patients was 10 (±4.23) years (range 3-17). Seventy-nine percent of patients had regular follow-up after diagnosis of background disease. Dental caries and delay in the dentition were most prevalent (each one 47.7%) followed by enamel hypoplasia in 42.1% of the patients. Other problems were taurodontism in 15.8% patients, dental abscess and gingivitis in 10.9%.

Conclusion

Hypophosphatemic rickets is a disease with different clinical features; one of them is dental problem, dental caries is the most common problem.     

Breastfeeding and Helicobacter Pylori Infection in Children with Digestive Symptoms

Objective

This study aims to evaluate the role of breastfeeding in the acquisition of Helicobacter pylori (H. pylori) infection in Iran and to compare the histopathologic changes occurring in children feeding on breast milk with those in infants feeding on formula.

Methods

In a case-control study parents of children with and without H. pylori infection who had undergone endoscopic survey and gastric biopsy in the Children''s Medical Center, Tehran, were asked about their feeding practices during the first 6 months after birth, the duration of breastfeeding period, the symptoms, and the duration of symptoms and concomitant diseases.

Findings

A total of 154 children were included in this study. From this sample, 77 children formed the case group and 77 children formed the control group. A significant difference was found between H. pylori infection and feeding with formula (P=0.045). In case group, a significant difference was found between breastfeeding and age of the infected child (P=0.034), shorter duration of symptoms (P=0.016), and finally degree of H. pylori colonization (P=0.021).

Conclusion

It appears that breastfeeding in the first 6 months after birth can decrease the degree of H. pylori colonization, postpone infection until older age, shorten the duration of symptoms, and be concomitant with milder gastritis.     

Infant feeding in the second 6 months of life related to iron status: an observational study

Objective

To investigate the relationship between iron status in infancy and type of milk and weaning solids consumed.

Design

An observational cohort study.

Setting

928 term infants from the Avon Longitudinal Study of Parents and Children in 1993–94.

Methods

Haemoglobin and ferritin concentrations at 8 and 12 months were assessed in relation to type and quantity of milk intake at 8 months.

Results

By WHO criteria, 22.7% of the infants were anaemic at 8 months and 18.1% at 12 months. More breast‐ than formula‐fed infants were anaemic at 8 and 12 months. Cows'' milk as the main drink was associated with increased anaemia at 12 months and low ferritin at 8 and 12 months. No association was found between any nutrients and haemoglobin concentrations. Protein and non‐haem iron intakes were positively associated with ferritin concentrations and calcium intake negatively. This effect was more marked in infants being fed cows'' milk. More than 25% of infants in the breast milk and cows'' milk groups and 41% of infants having >6 breast feeds per day had iron intakes below the lower reference nutrient intake. Feeding cows'' milk or formula above 600 ml or >6 breast feeds per day was associated with lower intakes of solids.

Conclusions

Both breast and cows'' milk feeding were associated with higher levels of anaemia. Satisfactory iron intake from solids in later infancy is more likely if formula intake is <600 ml per day and breast feeds are limited to <6 feeds per day. Cows'' milk should be strongly discouraged as a main drink before 12 months.     

Spontaneous Rupture of Kidney Due to Posterior Urethral Valve–Diagnostic Difficulties

Background

Spontaneous kidney rupture could develop in the course of posterior urethral valve (PUV), the most common cause of outflow urinary tract obstruction in male infants. However, urinary extravasation is a rare complication among this group of children.

Case Presentation

Our case report presents diagnostic difficulties connected with spontaneous kidney rupture due to PUV in a 6 week-old infant. Due to not equivocal images, thundery course of disease and rapid deterioration in the infant''s condition, the patient required an urgent laparatomy.

Conclusion

This case showed that the investigation of renal abnormalities during early neonatal period, is very important specifically in PUV that can lead to kidney rupture.     

Atomic Absorption Spectrometry in Wilson's Disease and Its Comparison with Other Laboratory Tests and Paraclinical Findings

Objective

Wilson''s disease (WD) is an autosomal recessive disease with genetic abnormality on chromosome 13 causing defect in copper metabolism and increased copper concentration in liver, central nervous system and other organs, which causes different clinical manifestations. The aim of this study was to determine the sensitivity of different clinical and paraclinical tests for diagnosis of Wilson''s disease.

Methods

Paraffin blocks of liver biopsy from 41 children suspicious of WD were collected. Hepatic copper concentrations were examined with atomic absorption spectrophotometry (Australian GBC, model: PAL 3000). Fifteen specimens had hepatic copper concentration (dry weight) more than 250μg/g. Clinical and laboratory data and histologic slides of liver biopsies of these 15 children were reviewed retrospectively. Liver tissue was examined for staging and grading of hepatic involvement and also stained with rubeonic acid method for copper.

Findings

Patients were 5-15 years old (mean age=9.3 years, standard deviation=2.6) with slight male predominance (9/15=60%). Five (33%) patients were 10 years old. Three (20%) of them were referred for icterus, 8 (54%) because of positive family history, 2 (13%) due to abdominal pain and 2 (13%) because of hepatosplenomegaly and ascites. Serum AST and ALT levels were elevated at the time of presentation in all patients. In liver biopsy, histological grade and stage was 0-8 and 0-6 respectively, 2 (13%) had cirrhosis, 1 (7%) had normal biopsy and 12 (80%) showed chronic hepatitis. Hepatic copper concentrations were between 250 and 1595 μg/g dry weight. The sensitivity of various tests were 85% for serum copper, 83% for serum ceruloplasmin, 53% for urinary copper excretion, 44% for presence of KF ring and 40% for rubeonic acid staining on liver biopsies.

Conclusion

None of the tests stated in the article were highly sensitive for diagnosis of WD, so we suggest that diagnosis should be based on combination of family history, physical examination and different tests.     

Cyclosporine in the Treatment of a Case of Fulminant and Refractory Acute Disseminated Encephalomyelitis

Background

Acute disseminated encephalomyelitis (ADEM) is a rare, monophasic, demyelinating disease of the CNS which sometimes could be refractory to traditional treatment.

Case Presentation

We present a case of fulminant ADEM which is treated with combination of corticosteroid, intravenous immunoglobulin and cyclosporine.

Conclusion

Immunosuppressive agents such as cyclosporine may be effective especially in fulminant form of the disease.     

The Effect of Traditional Remedies (Camel's Thorn,Flixweed and Sugar Water) on Idiopathic Neonatal Jaundice

Objective

Jaundice is the most common reason of newborn''s admission to neonatal ward. Many Iranian families give traditional remedies like sugar water, camel''s thorn and flixweed extracts to breast-fed babies for reducing jaundice. This study investigated the effect of traditional remedies on idiopathic neonatal jaundice.

Methods

This prospective study has been performed on 336 babies with idiopathic jaundice in a four year period (2005-2009) at Ghaem hospital, Mashhad, Iran. The babies were divided into two groups. In case group (n=234) breast-fed babies received no remedy and in control group (n=102), traditional remedies were given additional to breast milk and the results recorded and compared.

Findings

In the present study significant differences were observed between the two groups in age of admission (6.8±3.2 vs 9.2±3.7 day, P<0.001), serum bilirubin values (17.8 vs 21.3 mg/dl, P<0.001) and percent of weight loss (P<0.01). There were no significant differences between the two groups in birth weight, sex, gestational age and duration of hospitalization, age at jaundice remission, hematocrit value and maternal factors (age, gestational order, pregnancy and labor problems)(P>0.05).

Conclusion

Traditional remedies (camel''s thorn, flixweed and sugar water) cause more weight loss and delayed reexamination of newborns leading to increased hyperbilirubinemia. These remedies may raise pseudo confidence in parents, which postpones reexamination and follow up of the newborns.     

Klippel-Trenaunay-Weber Syndrome with Hemimegalencephaly; Report of a Pediatric Case

Background

Klippel-Trenaunay-Weber Syndrome (KTWS) is a rare neurocutaneous syndrome. Hemimegalencephaly (HME) and seizure episodes have been reported previously in a few cases with KTWS.

Case Presentation

We report here a 3 day-old girl with partial motor seizures, extensive port-wine staining and mild structural deformities in the feet, and a hemimegalencephaly.

Conclusion

Occurrence of partial motor seizures in addition to bilateral lower extremities extensive port-wine staining is a unique feature seen in our case.     

Prevalence of Overweight and Obesity among Iranian School Children in Different Ethnicities

Objective

Malnutrition, overweight and obesity are major health concerns in modern societies and especially among children. Overweight and obesity affect children''s current and future health. It is known that the prevalence of overweight differs by race, sex, and geographic location.

Methods

In a cross-sectional study 30092 Iranian children aged 7-18 years in six ethnic groups were selected by a cluster sampling. Prevalence of obesity and overweight and distribution of body mass index (BMI) by gender, age, and ethnicity were measured. Cutoff points of BMI for defining obesity and overweight were based on the Iranian, and IOTF standard values.

Findings

This study showed a significant ethnic difference in BMI. Prevalence of overweight and obesity among Iranian children was 9.27% and 3.22% respectively comparing international standards. The frequency of overweight and obesity was higher in boys.

Conclusion

This study showed a significant difference in BMI among different ethnic groups.     

Can We Rely on Frozen Sections of a Rectal Biopsy for One-stage Trans-anal Pull-through Operation in Hirschsprung's Disease?

Objective

Successful results after one-stage trans-anal pull-through (OSTAPT) operation for Hirschsprung''s disease (HD) depend on accurate identification of the aganglionic segment in intra-operative frozen section (FS). Misinterpretation of the findings of the rectal biopsy is an anxiety-evoking pitfall for the surgeon. This study aims to describe our experiences in comparing results of FS and permanent Section (PS) rectal biopsies in children with HD who were candidates for OSTAPT in a single-step operation.

Methods

Subjects under the age of 14 years, admitted from March 2000 to July 2008 in a university-affiliated children''s hospital for open rectal biopsy to diagnose HD were included in the study. All biopsies were taken 2–3 cm above the dentate line. 210 specimens of full-thickness rectal biopsy were obtained for both frozen section and permanent biopsy from all patients, examined by two well experienced pediatric pathologists for ascertaining the presence of ganglion cells, and the results were compared. Analysis was performed by SPSS Software version 11.5.

Findings

Two-hundred one infants and children underwent FS rectal biopsy to exclude HD. Positive results were seen in 63.8% of the specimens examined as PS and in 58.3% of FS samples. 93.9% of positive results in FS studies were confirmed by PS studies. 6.1% of FS reports were false positive and 21.7% were false negative (P<0.001). The sensitivity of FS was 85.8% and specificity 90.2%. Positive predictive value (PPV) was 93.9% and negative predictive value (NPV) was 78.3% in FS studies (P<0.001). The accuracy of FS was 80.4%.

Conclusion

Although FS of the rectal biopsy is useful in defining the aganglionic segment during operation, according to this study, it cannot be used as the sole base for performing primary pull-through operation before the results of the permanent section are on hand.     

Alexander Disease: Report of Two Unrelated Infantile Form Cases,Identified by GFAP Mutation Analysis and Review of Literature; The First Report from Iran

Background

Alexander disease (AD) is a sporadic leukodystrophy that predominantly affects infants and children and usually results in death within ten years after onset. The infantile form comprises the most of affected individuals. It presents in the first two years of life, typically with progressive psychomotor retardation with loss of developmental milestones, megalencephaly and frontal bossing, seizures, pyramidal signs and ataxia. The diagnosis is based on magnetic resonance imaging (MRI) findings and confirmed by GFAP gene molecular testing. GFAP gene encodes glial fibrillary acidic protein, is the only gene in which mutation is currently known to cause AD which is inherited in autosomal dominant manner.

Case Presentation

In this article we report the first two Iranian cases of infantile AD and their clinical, brain MRI and molecular findings. We report two novel mutations too in the GFAP gene that are associated with infantile form of AD.

Conclusion

GFAP gene mutations are a reliable marker for infantile AD diagnosed according to clinical and MRI defined criteria. A genotype-phenotype correlation had been discerned for the two most frequently reported GFAP gene mutations in infantile type of AD (R79 and R239), with the phenotype of the R79 mutations appearing much less severe than that of the R239 mutations. Our findings confirm this theory.     

Pathologic Evaluation of Appendectomy Specimens in Children: Is Routine Histopatholgic Examination Indicated?

Objective

Acute appendicitis is the most common cause of abdominal surgery in children. Similarity between signs and symptoms of appendicitis and other common pediatric illnesses, atypical manifestations of appendicitis in young children, and children''s inability to give precise explanation for their symptoms contribute to considerable delay in proper diagnosis and increased rate of perforation. Current study reports the surgical and pathological findings of appendectomies in the largest Children''s Hospital in Iran. It also evaluates whether common protocol for pathologic evaluation following appendectomy is beneficial.

Methods

Pathologic reports of 947 appendectomies, performed with the presumptive diagnosis of acute appendicitis, were gathered. Correlation between surgical and pathologic findings was assessed. Demographic characteristics of patients between surgical and pathological subgroups were also compared.

Findings

The mean age of participants was 6.9±3.5 years. Eighty seven (25.5%) children had abnormal pathological findings and normal surgical report. None of miscellaneous findings including appendicular carcinoid tumor 3 (0.3%), oxyuriasis 2 (0.2%), and mycobacterial infection 4 (0.5%) were recognizable during the surgery. Of all pathologically confirmed cases with perforated appendicitis, 9.7% were not detected during the surgery.

Conclusion

In current study, acute appendicitis was the most common pathological diagnosis, however, high normal appendectomy rate along with noticeable proportion of surgically missed perforated appendicitis and unusual histopathologies strongly supported routine histological examination.     

Generalized Lymphadenopathy in Infancy; a Case Report

Background

Rosai-Dorfman disease (RDD) is a rare disease of histiocytic cells, a cause of benign cervical lymphadenopathy (LAP) and massive generalized lymph node enlargement in children and adults. There are also some reports on involvement of other human body organs with or without LAP.

Case Presentation

A 7-month-old infant with chief complaint of generalized massive LAP was referred to our center. RDD was diagnosed according to clinical manifestations and confirmed through histopathologic and immunoreactivity study on the obtained sample by cervical lymph node biopsy.

Conclusion

RDD is not a malignant illness and lymph node enlargement most often decreases in its size happens without special treatment.     

Third-Degree Heart Block in Thalassemia major: A Case Report

Background

First and second-degree heart blocks are partly common rhythm disorders in thalassemic patients but complete heart block is a very rare complication of iron overload cardiomyopathy.

Case Presentation

This 15-year-old boy, a known case of major β-thalassemia was admitted to our emergency unit with dyspnea and cough because of decompensated heart failure. The electrocardiogram showed complete heart block with junctional escape rhythm. Interestingly, his previous electrocardiogram taken 2 months earlier, had some PVC and second degree, Mobitz type 1 (Wenckebach) heart block. After improvement of dyspnea and control of blood pressure in normal range, the patient was referred to ER. A dual-chamber permanent pacemaker was implanted and his symptoms improved, but he died 24 days after discharge from hospital.

Conclusion

We present a rare case of complete heart block after a second-degree (Mobitz 1) heart block that was due to severe iron overload cardiomyopathy.