Biljana Vuletic

Gilbert’s syndrome in children: Our experience

INTRODUCTION Gilberts syndrome represents the most frequent hereditary disorder of bilirubin metabolism. It occurs in 2-7% of subjects in general population, and is manifested by mild unconjugated hyperbilirubinaemia of benign nature. OBJECTIVE The study was conducted in order to analyse our experience related to the circumstances of disclosure, age at onset and sex distribution of Gilberts syndrome in children. METHOD The diagnosis of Gilberts syndrome was based on the findings of mild unconjugated hyperbilirubinaemia in the absence of haemolysis and organic liver disease, as well as significant increase of bilirubin unconjugated fraction in serum after a 3-day hypocaloric diet (400 kcal/daily). RESULTS Of 58 subjects with Gilberts syndrome, there were 40 (68.97%) boys and 18 (31.03%) girls, indicating a 2.22 fold higher incidence of boys than girls. The age at diagnosis of the disorder was similar in boys and girls, and was 12.2-18 (X =14.71 +/- 1.55) years for boys and 10.5-16.4 (X = 14.38 +/- 2.10) years for girls (p > 0.05). Except for 3 girls aged below 12 years, in all other patients the diagnosis was made after that age; in 20, between age 12 and 14 years and in 14, between age 14 and 16 years, while in 10 patents, it was made at age between 16 and 18 years. In 20 (34.48%) subjects, hyperbilirubinaemia was disclosed on routine paediatric examination, in 19 (32.76%) when differentiating the cause of recurrent or acute abdominal pain, in 17 (29.3%) during febrile condition and in 2 during insufficient caloric intake. The values of unconjugated bilirubinaemia, both before a hypocaloric test and after a 3-day energy deprivation, were higher in boys than girls, but this difference was statistically significant only after the 3-day hypocaloric diet in age group between 16 and 18 years (p = 0.038). Also, no significant difference was found in bilirubinaemia level between the different age groups either in boys or girls. CONCLUSION According to our findings, in children, Gilberts syndrome is manifested only in puberty, and 2.22 times more often in boys than girls. It is most frequently revealed during a routine paediatric examination, as well as when investigating the cause of abdominal pain and fever. A significantly higher level of serum bilirubin in boys as related to girls is registered only after a hypocaloric diet in age group between 16 and 18 years.

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.

Correlation between neurological finding and gestational maturity of newborns determined by neurosonography

INTRODUCTION Maturity is a complex functional condition influenced especially by the development of the vital functions of a fetus, primarily by the degree of the development of its central nervous system. The aim of this investigation was to establish the gestational maturity of the nervous system by neurosonography and neurological status. MATERIAL AND METHODS The parameter of the neurological maturity, compared in this research are a neurological status and the degree of girification established by the ultrasound. RESULTS All the coefficients of correlation between the gestation age determined by the ultrasound and the establishing of the gestation based on the neurological findings show a statistically significant correlation for p < 0.01. Of particular parametres of the neurological evaluation , the most appropriate ones appeared to be reflexes (the reflex of crossed extension, Moro reflex and the reflex of the main points), then volar flexion of a hand and the poplietal corner as the indicator of the passive tonus, whereas within the area of the evaluation of the active tonus, the motility was the most valid for establishing the maturity of a neonatal. The lowest coefficients of the correlations were in the automatic walk and the active tonus of the neck flexor, which are the ones of the most common neurological indicators of hypoxic ischemic encephalopathy of a neonatal. CONCLUSIONS Bearing in mind that the premature babies are a risky group for existence of perinatal brain damages, we believe the neurosonographic establishing of the gestation age to be a precise and comfortable indicator of the maturity of the nervous system.

[Report of a newborn with hemimegalencephaly in association with Klippel-Trenaunay-Weber syndrome].

Klippel-Trenaunay-Weber syndrome (KTW) is a rare phacomatosis whose main characteristics are: cutaneous angiomas (vascular nevi), varicose veins (arteriovenous fistulae) and hemihypertrophy of bones and soft tissues. This is a case report of KTW syndrome which was diagnosed in the first days of life on the basis of characteristic vascular nevi on the skin of the trunk and extremities in addition to hypertrophy of the left part of the body. Neuroradiologically verified hemimegalencephaly associated with temporal hemangioma represents a special particularity in our case. Measures of monitoring the child as well as stimulating and therapeutic actions were the issues of discussion.

Pneumococcal meningitis associated with glomerulonephritis: A case report

Introduction. Streptococcus pneumoniae is the second most common cause of meningitis in children, producing more serious complications than other bacteria. Streptococcus pneumoniae infections are a rare trigger of glomerulonephritis. We presented a case of glomerulonephritis developing concurrently with meningitis in a young male child. Case report. Gross haematuria, significant proteinuria, hypertension and decreased level of C3 alongside the signs of central nervous system involvement occurred in a male patient of 5 years and 3 months of age. Spontaneous resolution of renal affliction parameters followed the successful treatment of meningitis. The disease course was strongly suggestive of postinfectious glomerulonephritis, although it manifested at the same time as meningitis. The absence of the latent period might point to the development of IgA nephropathy, but since the renal function was stable, without any abnormalities in urine tests documented during follow-up, our opinion is that this was rather the case of postinfectious nephropathy. Conclusion. The presented case is a unique clinical form of postinfectious glomerulonephritis. An accurate diagnosis of this entity should ensure the adequate treatment and follow-up of these patients.

Encopresis in Children: An Overview of Recent Findings

Abstract The term ‘encopresis’, derived from ancient Greek ἐγκόπρησις / egkóprēsis, which means stool, was first introduced in 1926 by Weissenberg to describe the loss of stool in underwear as the faecal equivalent of enuresis. The soiling of underwear is defined as the accidental passage of very small amounts of faeces into underpants. Quantitatively, the content of stool between encopresis and soiling is difficult to determine, and it is especially difficult for parents assess it. Therefore, a new term was adopted – faecal incontinence – that encompasses both encopresis and soiling. Faecal incontinence is defined as the discharge of faeces in socially awkward situations at least once per month in children ≥ 4 years old. In approximately 95% of cases, faecal incontinence in children is not organic in origin, but instead appears as a functional gastrointestinal disorder. In 80% of children with functional faecal incontinence, the symptoms are associated with functional constipation. The remaining 20% of the cases involve no signs of faecal retention and are defined as non-retentive functional faecal incontinence. This paper aims to present the latest findings within this area of paediatric gastroenterology.

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.

Hospital-Acquired Pneumonia in Newborns with Birth Weight Less Than 1500 Grams: Risk Factors and Causes

Abstract Low birth weight newborns (≤1500 grams) are at a high risk of acquiring hospital infections due to the immaturity of the immune system, lack of efficient structural barriers, and an incomplete development of endogenous microbial flora. The aim of this study was to reveal the potential risk factors for hospital-acquired pneumonia in low birth weight newborns. This study was a prospective cohort design with a nested case-control study and was conducted between January 1st, 2012 and June 30th, 2015 at the Neonatology Department, Clinical Centre Kragujevac, Serbia. There were 1140 newborns hospitalized at the Neonatology Department for longer than 48 hours during the study period, and 169 of them (14.82%) weighed less than 1500 grams at birth. In total, 73 (43.19%) newborns with low birth weights developed HIs. The most prevalent HI was hospital pneumonia (n=64, 87.67%). Although univariate analyses identified many risk factors with a significant influence on the occurrence of hospital pneumonia, multivariate analysis identified only the following two independent risk factors for hospital pneumonia in newborns with birth weights below 1500 grams: mechanical ventilation (p=0.003, OR=68.893, 95% CI=4.285-1107.699) and longer hospitalization (p=0.003, OR=1.052, 95% CI=1.017-1.088). Almost all of the pathogens isolated from the patients with pneumonia were gram-negative bacteria (98.50%). More than half of all of the isolates were Acinetobacter spp (37.50%) and Enterobacter spp (18.75%). Our study showed that mechanical ventilation and prolonged hospitalization were significant risk factors for the development of hospital pneumonia in newborns with birth weights below 1500 grams.

Secondary Haemophagocytic Lymphohistiocytosis – The Differential Diagnosis Dilemma In Paediatrics

ABSTRACT Secondary haemophagocytic lymphohistiocytosis (SHFLH) is a rare, potentially fatal disorder, most commonly caused by the Epstein–Barr virus. It is characterized by neoplastic proliferation of cells that belong to the monocyte–macrophage system and by varied clinical expression. A girl aged 3 years and 7 months was hospitalized due to continuing high febricity, yellow skin colouring, hepatosplenomegaly and cytopenia in a complete blood count (CBC). Four weeks before hospitalization, she had a lacunar angina and lymphadenopathy. A low number of erythrocytes, leukocytes and thrombocytes were noted in CBC, with anaemia and the presence of virocytes in a peripheral blood smear. Biochemical blood analyses indicated hyperbilirubinaemia, increased values of transaminases, lactic dehydrogenase, ferritin, triglycerides, D-dimer, acceleration of the activated partial thromboplastin time and decreased values of fibrinogen, with increased values of C-reactive protein and procalcitonin. Using an ultrasound examination of the abdomen, hepatosplenomegaly was perceived; using echocardiographic examination, pericardium layering was noticed; and using a roentgen graphic picture of the lungs, the presence of pleural effusion was detected. In a bone marrow biopsy, the percentage of blasts did not exceed 25%, and rare chemophagocytes were noticed. Using serologic tests, positivity to Epstein-Barr virus in IgM class was demonstrated. According to the criteria by Histiocyte Society, there were sufficient criteria to establish a diagnosis of SHFLH. With the exception of symptomatic therapies, according to the protocol for SHFLH treatment, a double antibiotic therapy and IV immunoglobulins were given, to which the patient responded with a clinical and laboratory recovery. Therefore, there was no demand for a treatment protocol with cytostatics or bone marrow transplantation. To resolve a differential diagnosis dilemma in solving cases of uncertain febrile neutropenia.

[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.