Helicobacter pylori infection found during upper endoscopy performed for the diagnosis of celiac, inflammatory bowel diseases, and eosinophilic esophagitis: A multicenter pediatric European study.

BACKGROUND: Helicobacter pylori may be found during upper gastrointestinal endoscopy (UGE) performed to diagnose celiac disease (CeD), inflammatory bowel disease (IBD), and eosinophilic esophagitis (EoE). We aimed to describe the frequency of H. pylori in children undergoing UGE for CeD, IBD, and EoE and the number of children receiving eradication treatment. MATERIALS AND METHODS: A retrospective multicenter study from 14 countries included pediatric patients diagnosed with CeD, IBD, and EoE between January 2019 and December 2021. DATA COLLECTED: age, gender, hematologic parameters, endoscopic, histologic, and H. pylori culture results, and information on eradication treatment. RESULTS: H. pylori was identified in 349/3890 (9%) children [167 (48%) male, median 12 years (interquartile range 8.1-14.6)]. H. pylori was present in 10% (173/1733) CeD, 8.5% (110/1292) IBD and 7.6% (66/865) EoE patients (p = NS). The prevalence differed significantly between Europe (Eastern 5.2% (28/536), Southern 3.8% (78/2032), Western 5.6% (28/513)) and the Middle East 26.6% (215/809) [odds ratio (OR) 7.96 95% confidence interval (CI) (6.31-10.1) p < 0.0001]. Eradication treatment was prescribed in 131/349 (37.5%) patients, 34.6% CeD, 35.8% IBD, and 56.1% EoE. Predictors for recommending treatment included erosions/ulcers [OR 6.45 95% CI 3.62-11.47, p < 0.0001] and nodular gastritis [OR 2.25 95% CI 1.33-3.81, p 0.003]. Treatment rates were higher in centers with a low H. pylori prevalence (<20%) [OR 3.36 95% CI 1.47-7.66 p 0.004]. CONCLUSIONS: Identifying H. pylori incidentally during UGE performed for the most common gastrointestinal diseases varies significantly among regions but not among diseases. The indications for recommending treatment are not well defined, and less than 40% of children received treatment.

The perinatal factors that influence the excretion of fecal calprotectin in premature-born children.

This study aimed to provide additional information on the influence of perinatal factors on fecal (f)-calprotectin values in preterm infants. Calprotectin was determined from the first spontaneous stool (analyzed on the Alegria device by using the enzyme-linked immunosorbent assay [ELISA] method) obtained from neonates at a mean age of 3.41 ± 2.44 days of life. We analyzed 114 subjects who had a body weight of 1847.67 ± 418.6 g and were born at a gestational age of 32.6 ± 2.43 weeks, without intestinal and other congenital anomalies or any diseases other than those related to premature birth. The values of f-calprotectin are in a positive correlation with female subjects, intrauterine growth restriction, significant ductus arteriosus, enteral feeding intolerance, postnatal prolonged use of broad-spectrum antibiotics, and values ​​of bicarbonates (analyzed in a sample of capillary arterial blood). Measurement of f-calprotectin in the first 7 days after birth can help to early detect the intestinal distress or early staging of necrotizing enterocolitis in premature infants.

Acute hemorrhagic edema of infancy - is it really a mild, benign disease?

BACKGROUND: Acute hemorrhagic edema of infancy (AHEI) is a rare vasculitis, which presents dramatically as palpable purpuric skin lesions on the limb, face and auricles, with swelling of these parts and low-grade fever, in children up to 2 years of age. To date, approximately 400 cases have been described in the literature. The etiology remains mostly unknown. With or without treatment, AHEI goes to spontaneous recovery within 1-3 weeks, usually without any complications. To our knowledge, compartment syndrome as complication of AHEI has only been reported in one case. We present an unusual case of AHEI with serious complications due to compartment syndrome of the right-hand fingers. CASE: A 16-month-old male child presented with fever and sudden appearance and rapid spread of palpable, painless, non-itching ecchymotic hematomas on the thigh, cheeks, earlobes, forearms, dorsum of hands and feet, with mild edema of these regions. Complete systemic examination and all vital parameters were normal for age. There was no history of bleeding disorders in the family. Except low hemoglobin on complete blood count and increased D-dimer values, all other laboratory investigations were in the normal range. Changes on the right forearm and hand expanded on almost the entire dorsal side and all surfaces of the fingers, with pronounced swelling and formation of bullous lesions, which were spreading and cracking. Skin biopsy confirmed nonspecific small-vessel vasculitis. That required the use of Methylprednisolone, low-molecularweight heparin, antibiotics and debridement of necrotic eschar, with necrectomy of the affected fingers. CONCLUSIONS: Early recognition of AHEI is important to avoid unnecessary investigation and therapy. On the other hand, our reported case warns that unexpected complications may occur.

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.

The Role of Presepsin Obtained from Tracheal Aspirates in the Diagnosis of Early Onset Pneumonia in Intubated Newborns.

OBJECTIVES: To investigate the role of presepsin obtained from tracheal aspirate of intubated newborns in the diagnosis of early neonatal pneumonia. METHODS: A cross-sectional observational study was performed on 60 intubated newborns during the two-year period. Tracheal aspirate for examination was taken in aseptic conditions in usual toilets, by lavage with 2 ml of 0.9% NaCl in Mucus suction set. On the same day, presepsin (blood) was measured. RESULTS: There were 34 newborns in the examined group (with pneumonia) and 26 in the control group. Patient groups were similar regarding demographic characteristics related to gender and Apgar score. The coefficients of simple linear correlation revealed the statistically significant connection between presepsin (from tracheal aspirate) and birth body weight, presepsin (plasma), maternal infection and pneumonia. Significant differences in the values of presepsin (from tracheal aspirate) (p < 0.001) and birth body weight (p = 0.036) were found. CONCLUSIONS: In intubated newborns, measurements of presepsin obtained from tracheal aspirate suggested that it can be used as a complementary marker in diagnosing early onset neonatal pneumonia.

Case report of an infant with severe vitamin D deficiency rickets manifested as hypocalcemic seizures.

INTRODUCTION: Hypocalcemic seizures are uncommon in the post-neonatal period. We report an infant with hypocalcemic seizures caused by severe deficiency of vitamin D. CASE OUTLINE: A five-month-old male infant was admitted to hospital in March 2013 with recurrent generalized afebrile seizures resistant to clonazepam therapy. At the clinical examination, the infant showed characteristic rachitic signs, so that after a blood sample was taken for laboratory testing, the infant was given infusion of 2 ml/kg of 10% of calcium gluconate at a rate of 0.5 ml/min.The treatment resulted in immediate termination of seizures and normalization of the consciousness of the infant. Blood sample analysis showed extremely low levels of free and total calcium (0.36/1.24 mmol/) and 25(OH)D (<3 ng/ml), elevated alkaline phosphatase (878 U/) and parathyroid hormone (283 pg/ml), and low calcium/creatinine ratio (mg/mg) in a portion of urine (0.03), while the levels of serum phosphorus, pH, total protein, albumin and creatinine were within the reference range. Wrist X-ray showed typical signs of rickets. In order to fully stabilize calcium homeostasis, along with 2,000 IU of vitamin D3 daily and standard cow's milk formula, calcium gluconate (80 mg/kg daily) was given orally over a period of two weeks.The treatment resulted in complete stabilization of the infant's condition and rapid improvement in laboratory, radiological and clinical findings of rickets. CONCLUSION: Generalized convulsions in the afebrile infant represent a serious and etiopathogenically very heterogeneous problem. Extremely rare, as in the case of our patient, it may be due to severe hypocalcemia caused by a deficiency of vitamin D.

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.

Rosai-Dorfman disease of vertebra: Case report and literature review.

Rosai-Dorfman disease is a rare benign histiocytic disorder that arises predominantly in lymph nodes with fever and malaise, but can affect various organs, with or without lymphadenopathy. Solitary extranodal skeletal lesions are extremely rare. Herein, we describe a case of isolated disease of thoracic spine, with vertebral body fracture. A 14-year-old girl presented with cervical back pain for about one month as the only symptom. There was no lymphadenopathy. Results of laboratory tests were within reference ranges. The radiological examinations revealed collapse, osteolytic lesion and compressive fracture, which reduced vertical diameter of C4 vertebral body. The patient made a complete recovery after a limited C4 laminectomy, spondylodesis C3/C5 vertebra and biopsy of the lesion. Histologically, nonspecific cellular milieu and atypical histiocytic proliferation with emperipolesis, with CD68 and S100 positivity, confirmed a diagnosis of Rosai-Dorfman disease. Isolated extranodal skeletal Rosai-Dorfman disease should be considered among the differential diagnoses of similar changes, such as Langerhans cell histiocytosis, Erdheim-Cheister disease, eosinophilic granuloma, osteomyelitis, metastasis and lymphoma.

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.

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.

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.

[The significance of second generation cardiac troponin I in early screening of hypoxic-ischemic encephalopathy after perinatal asphyxia].

INTRODUCTION: In the last few years the use of cardiac troponin I and T, as diagnostic and prognostic factors of ischemic myocardial injury both in adult and neonatal medicine has been of great interest. OBJECTIVE: The objective of our research was to investigate the significance of cardiac troponin I (cTnl) as an early indicator of the presence and severity of hypoxic-ischemic encephalopathy (HIE) in newborns. METHODS: We analyzed 55 term newborns with HIE diagnosed based on clinical findings and ultrasonographic examination of the central nervous system. Serum concentration of cTnl-ultra was determined by immunoenzyme method during the first 24-48 hours after birth, and the obtained findings were compared with the values of identical parameter in 36 healthy term newborns. RESULTS: During the first 24-48 hrs after birth, serum concentration of cTnI-ultra was significantly higher (p < 0.0005) in term newborns with HIE (0.135 +/- 0.207 microg/l) and median (0.07, 0.01-006 microg/l) in comparison to control group (0.0183 +/- 0.026 microg/l and median 0.01 (0.01-0.01 microg/l), with the cTnl-ultra level rising proportionally to the clinical HIE stages. The increase of cTnI-ultra of > 0.12 microg/l indicated the development of significant cerebral damage with the sensitivity of 75% and specificity of 72.2%, while the cTnI-ultra level of > 0.13 microg/l was a significant mortality predictor with sensitivity of 76.9% and specificity of 73.8%. CONCLUSION: The second generation cardiac troponin I assay highly correlates with clinical and ultrasonographic findings in neonates with HIE, so that it can be used as a significant diagnostic and prognostic indicator of this pathological condition.

Pseudo-Bartter syndrome in an infant with congenital chloride diarrhoea.

INTRODUCTION: Pseudo-Bartter syndrome encompasses a heterogenous group of disorders similar to Bartter syndrome. We are presenting an infant with pseudo-Bartter syndrome caused by congenital chloride diarrhoea. CASE OUTLINE: A male newborn born in the 37th gestational week (GW) to young healthy and non-consanguineous parents. In the 35th GW a polyhydramnios with bowel dilatation was verified by ultrasonography. After birth he manifested several episodes of hyponatremic dehydration with hypochloraemia, hypokalaemia and metabolic alkalosis, so as Bartter syndrome was suspected treatment with indomethacin, spironolactone and additional intake of NaCl was initiated. However, this therapy gave no results, so that at age six months he was rehospitalized under the features of persistent watery diarrhoea, vomiting, dehydration and acute renal failure (serum creatinine 123 micromol/L). The laboratory results showed hyponatraemia (123 mmol/L), hypokalaemia (3.1 mmol/L), severe hypochloraemia (43 mmol/L), alcalosis (blood pH 7.64, bicarbonate 50.6 mmol/L), high plasma renin (20.6 ng/ml) and aldosterone (232.9 ng/ml), but a low urinary chloride concentration (2.1 mmol/L). Based on these findings, as well as the stool chloride concentration of 110 mmol/L, the patient was diagnosed congenital chloride diarrhoea. In further course, the patient was treated by intensive fluid, sodium and potassium supplementation which resulted in the normalization of serum electrolytes, renal function, as well as his mental and physical development during 10 months of follow-up. CONCLUSION: Persistent watery diarrhoea with a high concentration of chloride in stool is the key finding in the differentiation of congenital chloride diarrhoea from Bartter syndrome. The treatment of congenital chloride diarrhoea consists primarily of adequate water and electrolytes replacement.

Change of bronchial hyperresponsiveness in asthmatic children.

INTRODUCTION: Bronchial hyperresponsiveness (BHR) is a factor in predicting bronchial asthma independently of inflammation markers. OBJECTIVE: The aims were to determine the frequency and important predictive facts of BHR and the effect of prophylaxis by Global Initiative for Asthma (GINA) and National Asthma Education and Prevention Program (NAEPP) on BHR in asthmatic children. METHODS: BHR in 106 children was evaluated by the bronchoprovocation test with methacholine. RESULTS: The prevalence rate of symptomatic BHR is 18% for crucial point of PC20 = 4.1 +/- 3.03 mg/ml and PD20 = 3.22 +/- 2.59 micromol methacholine. On average asthmatic children express moderate BHR, which persists even two years after administering prophylaxis. After two years bronchial reactivity is significantly smaller, the change of FEV1 is significantly smaller, the velocity of change of slope dose response curve (sDRC) is faster and the provocative concentration of methacholine that causes wheezing is 2-3 times lower. A mild sDRC shows milder bronchoconstriction after two years. The fast change of bronchial reactivity in 41% of asthmatic children is contributed to aero-pollution with sulfur dioxide and/or, possible insufficient and/or inadequate treatment during two years of administering prophylaxis. A simultaneous effect of allergens from home environment and grass and tree pollens and of excessive aero-pollution on children's airways is important in the onset of symptomatic BHR. After two years of treatment by GINA and NAEPP children do not show asthma symptoms or show mild asthma symptoms, however bronchial sensitivity remains unchanged. CONCLUSION: Optimal duration of anti-inflammatory treatment in asthmatic children who show moderate bronchial hyperresponsiveness should be longer than two years.

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.

[Body mass index in asthmatic children before and after one year inhaled glucocorticosteroids therapy BMI].

INTRODUCTION: Asthma is the most frequent children's disease, with a tendency of further growth. Bearing in mind controversial data on obesity of asthmatic children and a possible effect of inhaled corticosteroids (ICS) on children's growth, the aim of our study was to determine the body mass index (BMI) in asthmatic children at the beginning of the therapy and to study the effect of the continuous application of ICS on growth and BMI during the period of 1 year. MATERIAL AND METHODS: The study included 100 children aged 7 to 18 diagnosed to have partly controlled and uncontrolled allergic asthma, who were continuously given ICS as a prevention against asthma attacks at Pediatric Clinic of the Clinical Center in Kragujevac for the period of 1 year. Children with BMI < p10 by their age and gender were considered to be underweight, children with p10-84 as of normal weight, children with p85-97 as overweight and children with BMI > p97 as obese. RESULTS: The highest percentage of children with asthma was within normal parameters (70%), 10% of the children were underweight (boys: n = 8/60, 13.3% vs. girls: n = 2/40, 5%), and 18% were overweight/obese. Monovariable analysis of variant with repeated measurements have shown a statistically significant difference in the height of children in all age groups after a year of continuous therapy of ICS (p = 0.000), except in girls aged 15-18, who did not show any significant difference in body height after the therapy (p > 0.05). CONCLUSION: Asthmatic children with partly controlled and uncontrolled asthma have mostly normal BMI and ICS can be safely administered in asthmatic children.

[GM1 gangliosidosis--case report].

INTRODUCTION: Gangliosidoses occur due to inherited deficiency of human beta-galaktosidase, resulting in the accumulation of glicophyngolipides within the lisosomes. Clinical manifestations of lysosomal storage disorders are remarkably heterogeneous, they can apear at any age and each of them can vary from mild to severe conditions. CASE REPORT: We present a patient with an early, infintile type of GM, gangliosidosis. The facial features were coarse: hypertelorismus, wide nose, depressed nasal bridge with lingual protrusion. From the very first months of life she had severe generalized hypotonic, delayed development and hapatosplenomegaly. Before she died, when she was 13 months old, she had not had any spontaneus movements, she was deaf and blind, dispnoic, with apnoiccrises, with anemic face, but without seizures and decerebrate rigidity, which often accompanies the terminal stage of this illness. CONCLUSION: The absence of beta-galaktosidase enzyme activity at the skin fibroblasts confirmed the definitive diagnosis. There has been no successful treatment so far, but increasingly better results of the gene therapy for other lysosomal storage disorders can make us optimistic.

[Position of anticholinergic drugs in the treatment of childhood asthma].

Anticholinergic drugs block muscarinic effect of acetylcholine on the receptors of postjunctional membranes and so inhibit the answer of the postganglionic parasympathetic nerve. The loss of M2 muscarinic receptors function occurs in asthmatics and it contributes to bronchial hyperresponsiveness and it is not a chronic feature of asthma, instead it characterizes asthma exacerbation. The loss of M2 muscarinic receptor function in children and adults happens during antigen bronchoprovocation or during exposition of asthmatics to ozone. After inhalation, ipratropium bromide (IB) can be found in a small quantity in circulation and it links less readily to muscarinic receptors on airway smooth muscles as related to its absorption after intravenous application. In the stepwise approach of asthma inhaled anticholinergics is recommended if the symptoms of the disease cannot be adequately controlled by a regular inhalation of antiinflammatory drugs with beta2-agonist and oral steroids. The improvement of the airway inspiratory capacity is more elevated than the improvement of FEV1 after inhalation of IB. IB has similar effect as salbutamol and it is recommended to control a stable chronic obstructive disease. During our numerous investigations and up-to-date experience in the usage of 5-7 microg/kg/body mass of IB repeated every 4-6 hours in combination with salbutamol, we did not notice adverse effects of the drug in infants. IB is recommended for hospital treatment of children.

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.