Human infections by Hymenolepis diminuta in Europe: a case report and literature review.

We performed a review of published and gray literature of human Hymenolepis diminuta cases across Europe up to July 2022. Of all detectable publications and records, we further analyzed only those that contained demographic, clinical or epidemiological data regarding the infected subjects. Additionally, one case of hymenolepiasis in a 16-mo-old boy living in the urban part of Belgrade was included in the analysis. Published studies were based in 13/50 European countries and identified 104 laboratory-confirmed cases in total. Almost one-half (49%) of all cases originated from Mediterranean countries. Among symptomatic children, the infection most often manifested with diarrhea, abdominal pain, allergic reaction and behavioral changes. The diagnosis was made by the detection and identification of H. diminuta eggs or parts of strobila in stool samples, although cases of misdiagnosis were also reported. The parasite clearance was established with praziquantel or niclosamide, while the administration of albendazole or mebendazole led to unfavorable results. Future multicentric prospective studies focused on infection screening and the gathering of detailed sociodemographic and clinical data could provide an updated insight into the true distribution and characteristics of H. diminuta infection across Europe.

Pediatric Crohn's Disease in the Upper Gastrointestinal Tract: Clinical, Laboratory, Endoscopic, and Histopathological Analysis.

Crohn's disease (CD) is a progressive, multifactorial, immune-mediated disease characterized by chronic inflammation of any part of the gastrointestinal (GI) tract. Pediatric patients present with a more extensive form of the disease, especially in the upper GI tract with various histopathological inflammatory patterns. Our study aims to analyze the clinical, laboratory, endoscopic, and histopathological findings in children with diagnosed CD and compare results on the initial and follow-up tests. We have included 100 children and adolescents with CD, with performed endoscopic and histopathological (HP) procedures. The results of multiple biopsies executed in these 8 years were matched and compared. We found a statistically significant frequency reduction in stool changes (65.52% to 18.18%), weight loss (35.24% to 4%), and abdominal pain (41.86% to 6.67%) as presenting symptoms. There was an improvement in all laboratory values: fecal calprotectin (1000 to 60,8 µg/g), C-reactive protein (12.2 to 1.9 mg/L), and albumin (36 to 41 g/L). On esophagogastroduodenoscopy and ileo-colonoscopy 36.59% and 64.86% patients had specific findings, respectively. A total of 32 patients had evidence of Crohn's disease in the upper GI tract. Non-caseating granulomas were found on 9% of oesophageal, 18% of gastric, and 12% of duodenal biopsies. In the lower GI tract, we have observed a disease progression in the rectum (72.29 to 82.22%) and descending colon (73.49 to 80%). There was no registered disease progression in the upper GI tract. Our study demonstrated a significant decline in the frequency of symptoms and an improvement in laboratory values on the follow-up examinations. More than a third of our patients had specific endoscopic and HP findings in the upper GI tract, and an additional 23% had HP findings highly suggestive of CD. We demonstrated the importance of regular clinical, laboratory, endoscopic, and histopathological assessments of pediatric CD patients.

Diagnosing Single and Multiple Drug Hypersensitivity in Children: A Tertiary Care Center Retrospective Study.

Drug hypersensitivity reactions (DHRs) are a type of adverse drug reactions with heterogeneous pathophysiological mechanisms and a broad spectrum of clinical manifestations. Since over-diagnosing is common in children, a complete allergy work-up is needed. A cross-sectional study was conducted at a tertiary care institution, covering the five-year period. Five hundred and four patients of both sexes, mean age 7.5 and with a medical history suggestive of DHR were evaluated. ENDA/EAACI guidelines were used for a diagnostic algorithm. Single drug hypersensitivity was registered in 375 patients and multiple drug hypersensitivity in 129. The main culprits in medical history were antibiotics (83%), non-steroidal anti-inflammatory drugs (NSAIDs) (8.4%) and analgoantipyretics (3.8%). Skin involvement was registered in 96.2%. DHRs were confirmed in 4.4% patients-six patients had positive skin tests and 13 had a positive drug provocation test. In the proven DHRs group, the main agents were antibiotics (72.7%), followed by NSAIDs (8.3%), and of all the skin manifestations, urticaria was most common (78.2%), followed by exanthema (10.5%) and angioedema (5.3%). Considering the above, anticipating DHRs and a proper referral of children to an allergologist is a key step in the assessment of drug hypersensitivity. A complete allergy work-up prevents unnecessary drug exclusion and allows most children to safely continue the use of first-line medications when needed.

Assessment of Quality of Life, Anxiety and Depressive Symptoms in Serbian Children with Celiac Disease and their Parents.

OBJECTIVES: To evaluate the level of health-related quality of life (QoL) and presence of anxiety and depressive symptoms in Serbian children with celiac disease from the perspective of patients and their parents. METHODS: This cross-sectional study investigated the group of children and adolescents with celiac disease aged 5-18 y, and at least one parent of each patient with celiac disease. The patients and their parents were recruited at the Institute of Mother and Child Health of Serbia and the University Children's Hospital in Belgrade. The instruments used in this study were child-self and parent-proxy versions of the Pediatric Quality of Life Inventory (PedsQL), Screen for Child Anxiety Related Emotional Disorder (SCARED) and Short Mood and Feelings Questionnaire (MFQ). Additional information was collected from the medical records of each patient. RESULTS: According to the PedsQL questionnaire, the quality of life was similarly assessed by both parents and their children (p > 0.05), as well as the presence of depressive symptoms according to MFQ questionnaire. However, a statistically significant difference was observed in the total score of the SCARED questionnaire for children and parents [total score (p < 0.05), panic-somatic disturbance (p < 0.01) and social anxiety (p < 0.01)]. CONCLUSIONS: The patients and their parents in Serbia have similarly assessed the quality of life of children with celiac disease, but the differences in the scores of SCARED questionnaire indicate that it is necessary to include both children and parents in the assessment of QOL.

Food allergy in children.

Food allergy represents a highly up-to-date and continually increasing problem of modern man. Although being present in all ages, it most often occures in children aged up to three years. Sensitization most often occurs by a direct way, but it is also possible to be caused by mother's milk, and even transplacentally. Predisposition of inadequate immune response to antigen stimulation, reaginic or nonreaginic, is of non-selective character so that food allergy is often multiple and to a high rate associated with inhalation and/or contact hypersensitivity. Also, due to antigen closeness of some kinds of food, cross-reactive allergic reaction is also frequent, as is the case with peanuts, legumes and tree nuts or cow's, sheep's and goat's milk. Most frequent nutritive allergens responsible for over 90% of adverse reactions of this type are proteins of cow's milk, eggs, peanuts, tree nuts, wheat, soy, fish, shellfish, crustaceans, and cephalopods. Allergy intolerance of food antigens is characterized by a very wide spectrum of clinical manifestations. Highly severe systemic reactions, sometimes fatal, are also possible.The diagnosis of food allergy is based on a detailed personal and family medical history, complete clinical examination, and corresponding laboratory and other examinations adapted to the type of hypersensitivity and the character of patient's complaints, and therapy on the elimination diet. A positive effect of elimination diet also significantly contributes to the diagnosis. Although most children "outgrow" their allergies, allergy to peanuts, tree nuts, fish, shellfish, crustaceans, and cephalopods are generally life-long allergies.

Celiac crisis in children in Serbia.

BACKGROUND: To assess the prevalence and risk factors of celiac crisis (CC) in children with classical celiac disease (CD). METHODS: This retrospective study comprised 367 children with classical CD diagnosed from 1994 to 2015. The diagnosis of CD was based on the revised ESPGHAN criteria and CC on acute worsening and rapid progression of chronic diarrhea and vomiting followed by severe dehydration, multiple metabolic derangements and a marked decrease of body weight. RESULTS: Celiac crisis was confirmed in six (1.63 %) children, five in the first and one in the second year of life. In three patients CC was precipitated by rotavirus and in one by Salmonella enteritidis infection, while in the remaining two, except for a too long-standing disease and severe malnutrition, no additional causes of CC were found. CONCLUSION: Celiac crisis in Serbia is still-present in children exclusively below the second year of life as a spontaneous or intestinal infection precipitated complication of previously unrecognized CD.

Acute Diarrhea in Children.

Acute diarrhea (AD) is the most frequent gastroenterological disorder, and the main cause of dehydration in childhood. It is manifested by a sudden occurrence of three or more watery or loose stools per day lasting for seven to 10 days, 14 days at most. It mainly occurs in children until five years of age and particularly in neonates in the second half-year and children until the age of three years. Its primary causes are gastrointestinal infections, viral and bacterial, and more rarely alimentary intoxications and other factors. As dehydration and negative nutritive balance are the main complications of AD, it is clear that the compensation of lost body fluids and adequate diet form the basis of the child's treatment. Other therapeutic measures, except antipyretics in high febrility, antiparasitic drugs for intestinal lambliasis, anti-amebiasis and probiotics are rarely necessary. This primarily regards uncritical use of antibiotics and intestinal antiseptics in the therapy of bacterial diarrhea.The use of antiemetics, antidiarrhetics and spasmolytics is unnecessary and potentially risky, so that it is not recommended for children with AD.

Alpha-1-antitrypsin deficiency in children: clinical characteristics and diagnosis.

INTRODUCTION: Alpha-1-antitrypsin deficiency (AATD) is a relatively rare and clinically very heterogeneous autosomal recessive disorder. OBJECTIVE: Presentation of clinical characteristics of AATD in the first months after birth, as well as the significance of testing brothers and sisters for its presence. METHODS: Objectives of the study were analyzed on a sample of eight children (four male and four female, aged 63 months (mean 14.81 ± 23.96 months; range 1-63 months) with AATD confirmed based on its low serum value and pathological phenotype. RESULTS Of the total of eight patients, six manifested cholestasis syndrome (three male and three female, mean age 2.25 ± 1.37 months; range 1-4.5 months), while two patients, a 3.5-year-old girl and a 5.25-year-old boy, were without symptoms and clinical-laboratory signs of the disease, disclosed during family testing. Serum alpha-1-antitrypsin level rated 0.30-0.66 g/L (0.37 ± 0.12), among which seven were with ZZ phenotype 0.30-0.39 (0.33 ± 0.04), and in a boy with FZ the phenotype was disclosed on family screening, 0.66 g/L. In the group of patients with cholestasis syndrome (serum GTT 444.80 ± 203.15 U/L; range 201-676 U/L), three had mild to moderate hepatomegaly, one had longitudinal growth delay (< P3; -10.50%) and two had icterus with conjugated hyperbilirubinemia (92 and 109 µmol/L) and prolonged prothrombin time (PT 14.8 and 17 sec). All children with cholestasis syndrome also had hypertransaminasemia (ALT 80.83 ± 33 U/L; range 37-124 U/L and AST 116.67 ± 62.82 U/L; range 58-230 U/L). CONCLUSION: Cholestasis syndrome represents a basic manifestation of AATD in the first months after birth, while early testing of brothers and sisters enables early disclosure and adequate treatment of the subclinical forms of the disease.

HLA genotyping in pediatric celiac disease patients.

Celiac disease (CD) is a chronic inflammatory disease in the small intestine triggered by gluten uptake that occurs in genetically susceptible individuals. HLA-DQ2 protein encoded by HLA-DQA1*05 and DQB1*02 alleles is found in 90-95% of CD patients. All of the remaining patients carry HLA-DQ8 protein encoded by HLA-DQA1*03 and DQB1*03:02 alleles. Specific HLA-DQ genotypes define different risk for CD incidence. Presence of susceptible HLA-DQ genotypes does not predict certain disease development, but their absence makes CD very unlikely, close to 100%. Here we presented for the first time the distribution of HLA-DQ genotypes in the group of pediatric celiac patients from the University Children's Hospital, Belgrade, Serbia and estimated risk for CD development that these genotypes confer. Seventy three celiac disease patients and 62 healthy individuals underwent genotyping for DQA1, DQB alleles and DRB1 allele. 94.5% of patients carried alleles that encode DQ2 protein variant and 2.7% carried alleles that encode DQ8 protein variant. Two patients carried single DQB1*02 allele. No patients were negative for all the alleles predisposing to CD. The highest HLA-DQ genotype risk for CD development was found in group of patients homozygous for DQ2.5 haplotype, followed by the group of heterozygous carriers of DQ2.5 haplotype in combination with DQB1*02 allele within the other haplotype. The lowest risk was observed in carriers of a single copy of DQB1*02 or DQA1*05 allele or other non-predisposing alleles. HLA genotyping, more informative than serological testing commonly used, proved to be a useful diagnostic tool for excluding CD development.

X-linked hypophosphatemic rickets: case report.

INTRODUCTION: X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation. We present a girl with X-linked hypophosphatemic rickets (XLHR) as a consequence of de novo mutation in the PHEX gene. CASE OUTLINE: A 2.2-year-old girl presented with prominent lower limb rachitic deformity, waddling gait and disproportionate short stature (79 cm, < P5; -1,85 SD). On the basis of hypophosphatemia, hyperphosphaturia, high serum level of alkaline phosphatase, normal calcemia, 25(OH)D and PTH, as well as characteristic clinical and X-ray findings, diagnosis of hypophosphatemic rickets (HR) was made. Normal calciuria and absence of other renal tubular disorders indicated HR as a consequence of isolated hyperphosphaturia. The treatment (phosphate 55 mg/kg and calcitriol 35 ng/kg per day), introduced 15 month ago, resulted in a stable normalization of alkaline phosphatase and phosphorus serum levels (with intact calcemia and calciuria), disappearance of X-ray signs of the active rickets and improvement of the child's longitudinal growth (0.6 cm per month). Subsequently, by detection of already known mutation in the PHEX gene: c.1735G>A (p.G579R) (exon 17), XLHR was diagnosed. Analysis of the parental PHEX gene did not show the abnormality, which indicated that the child's XLHR was caused by de novo mutation of this gene. CONCLUSION: Identification of genetic defects is exceptionally significant for diagnosis and differential diagnosis of hereditary HR.

Case report of acute vitamin D intoxication in an infant.

INTRODUCTION: Vitamin D intoxication represents a rare and potentially serious pathological condition caused by the excess of calcium and phosphorus. We are presenting an infant with vitamin D intoxication due to excessive daily administration, as well as therapeutic procedures that prevented its adverse effects. CASE OUTLINE: A 1.5-month-old female infant, born at term, exclusively breastfed and without any complaints and abnormalities of physical findings, was observed due to the data that during the preceding month, by her mother's mistake, she had received about 200,000 IU of vitamin D3. Laboratory analyses showed a high serum level of 25(OH)D (>400 nmol/L) and calcium (2.72 mmol/L), lowered PTH (6.6 pg/ml) and high urinary calcium/creatinine ratio (1.6), while other findings, including urotract ultrasonography image, were within normal limits. Treatment based on the discontinuation of vitamin D administration, infant's forced water intake, as well as the application of 2-month prednisolone and 4-month phenobarbitone and furosemide, resulted in complete normalization of the laboratory indicators of vitamin D overdose, as well as the prevention of its adverse effects. CONCLUSION: By timely recognition and adequate treatment, including triple therapy with prednisolone, phenobarbitone and furosemide, adverse effects of acute vitamin D intoxication can be prevented.

Pseudoachondroplasia: a case report.

INTRODUCTION: Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein. It is characterized by rhizomelic dwarfism, limb and vertebral deformity, joint laxity and early onset osteoarthrosis. We present the girl with the early expressed and severe PSACH born to clinically and radiographically unaffected parents. CASE OUTLINE: A 6.5-year-old girl presented with short-limbed dwarfism (body height 79.5 cm, < P5;-32%) and normal craniofacial appearance and intelligence. The girl was normal until 3 months of age when she expressed growth retardation with apparently shorter extremities in relation to the torso. With age, her rhizomelic dwarfism became increasingly visible, and since completed 15 months of age, when she started to walk, the disease was complicated with genu varum, lumbar lordosis and abnormal gait. Beside visibly short forearms, short, broad and ulnar deviation of the hands, brachydactyly and joint hyperlaxity, the radiographic picture showed markedly flared metaphyses, small and irregular epiphyses and poorly formed acetabulum. CONCLUSION: PSACH is an achondroplasia-like rhizomelic dwarfism recognized by the absence of abnormality at birth, normal craniofacial appearance, characteristic epiphyseal and metaphyseal radiographic finding and joint hyperlaxity.

Significance of the application of oral rehydration solution to maintain water and electrolyte balance in infants with ileostomy.

INTRODUCTION: Ileostomy represents a necessary procedure to solve various surgical diseases in children. As the result of increased fluid loss and colonic exclusion in its regulation, it is often followed, particularly during the first months after birth, by chronic dehydration and failure to thrive. OBJECTIVE: The aim of the paper was to present our experience related to the application of oral rehydration solution (ORS) to compensate the intestinal loss of water and electrolytes in infants with ileostomy. METHODS: Treatment was performed with ORS containing 65 mmol/L of sodium in five infants aged 1.5-8 months (3.8+/-2.46 months) with dehydration and undernutrition after ileostomy performed in the first five days after birth. RESULTS: After rehydration, the continual application of ORS in the daily dosage of 63.90+/-25.03 ml/kg, i.e. approximately matching the volume of intestinal content elimination (57.00+/-19.23 ml/kg), resulted in all infants in optimal water and electrolyte homeostasis, and in further course also in the improvement of their nutritional status (p=0.023). CONCLUSION: Our experience indicates that continual application of reduced sodium content of ORS in the approximate equal quantity of intestinal content loss represents the method of choice in water and electrolyte homeostasis maintenance in infants with ileostomy.

Presentation of an infant with nutritional deficiency dermatitis as the initial manifestation of cystic fibrosis.

INTRODUCTION: Cystic fibrosis (CF) is a multisystemic autosomal recessive disease most frequently recognized by characteristic respiratory and/or digestive manifestations. Exceptionally rare, as is the case with the infant we are presenting, the initial sign of the disease can be nutritional deficiency dermatitis (NDD). CASE OUTLINE: A three-month-old male infant of young and healthy non-consanguineous parents, born at term after the first uneventful pregnancy, was hospitalized due to atopic dermatitis (AD)-like skin changes, failure to thrive and normochromic anemia (Hb 60 g/L). As exclusively breast-fed, failure to thrive was attributed to hypogalactia and skin changes to nutritional allergy, so that, besides exclusion of cow's milk protein and other highly allergenic foods in mother's diet, hypoallergenic milk formula was added to the child's diet. However, dietetic measures were without effect, and the child was re-hospitalized at age 4.5 months, this time in the condition of severe malnutrition with hypoproteinemic edemas, extensive dermatitis, moderate hepatosplenomegaly and recurrent normochromic anemia (Hb 57 g/L). After plasma-free erythrocyte transfusion, correction of hypoalbuminemia and two-week parenteral and semi-elementary nutrition resulted in gradual recovery of the child, also including the resolution of skin changes. Having in mind the clinical course of the disease, as well as the response to applied therapeutic measures, CF was suspected as the cause of the child's problems, which was also confirmed by a high level of sweat chlorine (92 mmol/L) and DNA analysis (deltaF508/deltaF508). CONCLUSION: Our experience indicates that NDD, as the initial manifestation of CF, should be also kept in mind in differential diagnosis of the infant's AD-like changes.

Association of hereditary elliptocytosis and Gilbert's syndrome as the cause of biliary calculosis: case report.

INTRODUCTION: Biliary calculosis is rare in children. It occurs associated with different haemolytic and non-haemolytic disorders, which are sometimes also combined. CASE OUTLINE: A 15-year-old male was hospitalized due to biliary calculosis and non-conjugated hyperbilirubinemia. A mild non-conjugated hyperbilirubinemia, without anaemia and other symptoms of liver dysfunction, was registered at age 8 years, and 7 years later cholelithiasis with transitory choledocholithiasis. The finding of ellyptocytes in blood smear, which was also verified in mother, normal haemoglobin count and the absence of diseases followed by secondary dysmorphic erythrocytes of this type, indicated a clinically milder (compensated) hereditary ellyptocytosis, while more than a double increase of non-conjugated serum bilirubin fracture after a three-day hypocaloric diet (400 kcal per day) showed the concurrent presence of Gilbert's syndrome. In the laparascopically removed gallbladder a larger number of small pigmented calculi were disclosed. CONCLUSION: Gilbert's syndrome is an essential precipitating factor of biliary calculosis in patients with chronic haemolytic condition. Thus, in all cases of biliary calculosis and non-conjugated hyperbilirubinemia with absent clinical and laboratory parameters of liver disorders and anaemia, except in compensated haemolytic disease and Gilbert's syndrome as isolated disorders, a possibility of their association should be taken into consideration.

Clinical characteristics of idiopathic ulcerative colitis in children.

INTRODUCTION: Idiopathic ulcerative colitis (IUC) represents a rare disease of childhood. It usually occurs at age over 10 years, and below that exceptionally rarely. OBJECTIVE: The aim of the paper was to analyze the clinical signs, symptoms and therapeutic procedures in children with IUC. METHODS: The aims of the paper were based on a sample of 17 children (11 male and 6 female, mean age 11.90 +/- 3.50 years; range 3.8-17.5 years) with IUC. The disease diagnosis was based on characteristic endoscopic and pathohistological findings. RESULTS: The basic signs of the disease involved chronic mucosal haemorrhagic diarrhoea which was confirmed in 16 of 17 patients, with body weight deficiency (10), recurrent abdominal pain (6), fever (5), slowed-down maturation (5), marked anorexia (4), and tenesmus (3).Two patients had recurrent aphthous stomatitis, 2 anal fissures, 2 arthralgia, one autoimmune hepatitis and one pyoderma gangrenosum. None of the children had longitudinal growth retardation. Elevated sedimentation rate and C-reactive protein in blood were registered in 11, sideropenia in 10, anaemia in 6 and hypoalbuminemia in 3 patients. The remission of proctosigmoiditis and left-sided colitis was achieved with aminosalicylates, and of pancolitis with the combination of aminosalicylates and glucocorticoids, except in cases of steroid-dependent colitis, which additionally required azathioprine. CONCLUSION: The main signs of IUC in children are chronic mucous haemorrhagic diarrhoea, body weight loss and sideropenic anaemia, while the basic therapy consists of aminosalicylates, and in more severe cases of the disease the initial use of glucocorticoids and later azathioprine.

Influence of early feeding practices on celiac disease in infants.

AIM: To investigate whether duration of breastfeeding and timing of gluten introduction influence the age at diagnosis and severity of celiac disease. METHODS: Medical records of 89 infants (59 girls and 30 boys; mean age of 14.2 months, standard deviation 4.80) diagnosed with classic celiac disease at the University Children's Hospital in Belgrade from 2000 to 2008 were retrospectively analyzed to determine the duration of breastfeeding and timing of gluten introduction. The severity of celiac disease was assessed based on weight loss, longitudinal growth retardation, anemia, and secondary lactose intolerance. RESULTS: Longer breastfeeding significantly reduced the risk that celiac disease would manifest in the first year of life (odds ratio, 0.655; 95% confidence interval, 0.481-0.891; P=0.007), and duration of breastfeeding was the most significant predictor of developing celiac disease (B=0.49; 95% confidence interval, 0.131-0.768; P=0.007). There were no significant differences in age at diagnosis between infants who had started consuming gluten before the fourth month and those who had started between the fourth and sixth month. Neither breastfeeding nor timing of gluten introduction affected the severity of the disease. CONCLUSION: Longer breastfeeding and continuation of breastfeeding after gluten introduction delay the onset of classic celiac disease. On the other hand, neither breastfeeding nor the timing of gluten introduction affects the severity of celiac disease.

When to screen children with Down syndrome for celiac disease?

The coexistence of Down syndrome (DS) and celiac disease (CD) has been reported in many studies. In our study, we examined 82 children with DS aged 8 months to 8.6 years for the existence of CD using serological markers immunoglobulin A (IgA) and immunoglobulin G (IgG) transglutaminase antibodies, followed by follow-up determination of total IgA levels. In four children who were positive for one of the above-mentioned antibodies, enteric biopsy has been performed that showed absence of CD. Our findings raise doubt about the need for obligatory serological screening of children with DS aged <8 years.

Coeliac disease as the cause of resistant sideropenic anaemia in children with Down's syndrome: case report.

INTRODUCTION: Coeliac disease (CD) is a permanent intolerance of gluten, i.e., of gliadin and related proteins found in the endosperm of wheat, rye and barley. It is characterized by polygenic predisposition, autoimmune nature, predominantly asymptomatic or atypical clinical course, as well as by high prevalence in patients with Down's syndrome (DS) and some other diseases. OUTLINE OF CASES: We are presenting a girl and two boys, aged 6-7 (x = 6.33) years with DS and CD recognized under the feature of sideropenic anaemia resistant to oral therapy with iron. Beside mental retardation, low stature and the morphological features characteristic of DS, two patients had a congenital heart disease; one ventricular septal defect and the other atrioventricular canal. In two patients, trisomy on the 21st chromosome pair (trisomy 21) was disclosed in all cells, while one had a mosaic karyotype. All three patients had classical laboratory parameters of sideropenic anaemia: blood Hb 77-89 g/l (x = 81.67), HCT 0.26-0.29% (x = 0.28), MCV 69-80 fl (x = 73), MCH 24.3-30 pg (x = 26.77) and serum iron 2-5 micromol/L (x = 4.0). Beside anaemia and in one patient a mild isolated hypertransaminasemia (AST 67 U/l, ALT 62 U/l), other indicators of CD were not registered in any of the children. In addition, in all three patients, we also detected an increased level of antibodies to tissue transglutaminase (atTG) of IgA class (45-88 U/I) so that we performed endoscopic enterobiopsy in order to reliably confirm the diagnosis of CD. In all three patients, the pathohistological finding of the duodenal mucosa specimen showed mild to moderate destructive enteropathy associated with high intraepithelial lymphocyte infiltration, cryptic hyperplasia and lympho-plasmocytic infiltration of the stroma. In all three patients, the treatment with a strict gluten-free diet and iron therapy applied orally for 3-4 months resulted in blood count normalization and the correction of sideropenia. Serum level of the atTG-IgA, repeated after a 12-month diet, was also normal. CONCLUSION: CD should be taken into consideration in all cases of sideropenic anaemia resistant to iron oral therapy in children with DS.The diagnosis of CD implicates corresponding pathohistological confirmation, while the treatment of sideropenic anaemia and its complications, beside iron preparations, also requires compliance with a gluten-free diet.

Lactose intolerance in infants with gluten-sensitive enteropathy: frequency and clinical characteristics.

INTRODUCTION: Secondary lactose intolerance (SLI) belongs to the rarer manifestations of gluten-sensitive enteropathy (GSE). It occurs in more severe forms of the disease and its presence contributes significantly to the degree of its expression. OBJECTIVE: The goal of the study was to determine the frequency of SLI in infants with clinically classic form of GSE, as well as its relationship with the duration, severity and age at the diagnosis of the basic disease and the degree of small bowel mucosa damage. METHODS: The study was based on a sample of 42 infants, 30 female and 12 male, aged 7-12 months (x = 9.98 +/- 1.69), with a clinically classic form of GSE. The diagnosis of GSE was established based on the characteristic pathohistological appearance of small bowel mucosa and clinical improvement of patients on gluten-free diet, while SLI on pathological lactose or milk tolerance test. The assessment of basic disease severity was based on body mass divergence in relation to the standard value, as well as on Hb and serum iron levels, while the degree of small bowel mucosa damage was determined according to the modified Marsh criteria. RESULTS: SLI was verified in 8/42 or 19.05% of patients. In addition to the symptoms and clinical signs of GSE, all the patients with SLI also featured the problems characteristic of lactose tolerance disorders, i.e. watery diarrhoea, borborygmus and meteorism occurring after milk meals. In addition, all had perianal erythema (6 with erosive changes), as well as destructive enteropathy (5 subtotal and 3 total). The difference in the duration of the basic disease, age at diagnosis, as well as in the degree of body mass deviation from the standard value between the lactose-tolerant and lactose-intolerant infants was not found. In addition, no difference in Hb and serum iron levels or in the degree of small bowel mucosa damage was found between the two groups. CONCLUSION: Our findings indicate that SLI presents a relatively frequent occurrence in infants with clinically classic GSE, as well as that it occurs independently to the duration, severity and age at diagnosis of the basic disease and the degree of small bowel mucosa damage.