Zoran Igrutinovic

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.

Henoch-Schönlein Purpura Nephritis in Children: Prognosis and Treatment Experiences

Abstract Henoch-Schönlein purpura is a type of systemic small vessel vasculitis. The dominant manifestation is the cutaneous component, the illness is self-limiting in nature, and the prognosis and outcome depend mostly on renal manifestations. We analysed the associations among clinical and laboratory parameters with the prognosis and outcome of HSP in children hospitalised at the Paediatrics clinic, Clinical Centre, Kragujevac between January 2011 and January 2012. Children who developed nephritis were older on average and all manifested with arthritis, abdominal complaints, microhaematuria, elevated D-dimer levels in the serum, and significant proteinuria and microalbuminuria (≥ 300 mg/L), and two children had pre-existing allergic conditions. All three children with repeatedly positive proteins in the morning sample urine test had significant proteinuria (≥0,5 g/24 h) and microalbuminuria (≥ 300 mg/L). These children had more bursts of rash and more severe and lasting abdominal pain and arthritis compared to children with normal urine tests. They were therefore treated with glucocorticoids and an angiotensin-converting enzyme inhibitor. The glomerular filtration rate measured by determining creatinine clearance was normal in all patients. These patients were diagnosed with Henoch-Schönlein purpura nephritis, and their condition was regularly monitored. Analysis of this group of patients demonstrated that the average age of 8 years and abdominal complaints were indicative of nephritis development.. Because both of these parameters are easily noted at disease onset, we suggest careful monitoring of disease course in these children.

Difficulties in diagnosis of tuberculosis without bacteriologic confirmation in a 15-year-old boy from contact with a patient with tuberculosis: A case report

Introduction. After the contact with a patient suffering from tuberculosis (TB), previously healthy children have 1%–16% possibility to develop the disease. TB diagnosis in children is not easy to confirm so 15%–25% of cases remain undiagnosed. Case report. A 15-yearold-boy was hospitalized with productive cough, pain in the right flank area, fever, and fatigue, loss of appetite and night sweats. One of the boys uncles was cured of tuberculosis, another uncle had active tuberculosis and both of them were in contact with the boy, but they did not live in the same household. During the physical examination, the child was febrile, with dyspnea, pale, with profuse sweating, debilitate. BCG (Bacillus Calmette – Guérin) scar was present. The auscultatory findings of the lungs showed quiet breathing from the scapula to the right lung base and chest radiography suggested massive right sided pleuropneumonia. The parameters of the inflammation were high and Mycobacterium tuberculosis (MTB) was not found in the samples of sputum and gastric lavage. Pleural puncture revealed exudative nature in the aspirated fragment. Cytology was nonspecific, the MTB was not found and the planted surfaces on Lowenstein-Jensen remained sterile. Tuberculin skin test (TST) – Mantoux was positive (+ 10 mm), Interferon Gamma Release Assay (QuantiFERON-TB GOLD In-Tube) was negative. The boy was unsuccessfully treated with broad spectrum antibiotics. By video-assisted thoracoscopy, the pleural tissue clip confirmed the benign chronic granulomatous process, while histochemical staining did not show MTB. The treatment with anti-TB medication led to clinical and radiographic recovery. The boy is now in good general condition, without consequences of the disease. Conclusion. This case report pointed out the importance of risk factors and difficulties in diagnosing TB in children.

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.

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.

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.

Laboratory parameters in differential diagnosis of iron deficiency anemia and chronic infections anemia among children

Objective. Aim of this study were to establish laboratory parameters of sideropenic and secondary anemia among children. Methods. From December 1, 2010 to January 31, 2011, 35 children with sideropenic anemia, 35 children with anemia of chronic disease and 35 healthy children were recruited in Hematology infirmary of Pediatric Clinic of Clinical Centre Kragujevac. All children underwent following analyses: count of leukocytes (Le), erythrocytes (Er), platelets (Tr), hemoglobin (Hb), hematocrit (Hct), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), red blood cell distribution width (RDW), serum iron (Fe), total iron binding capacity (TIBC), unsaturated iron binding capacity (UIBC) and ferritin. For data processing we used t-test, with probability threshold p =<0.05. Results. Leukocytes count values were increased in group with secondary anemia compared to control and sideropenic anemia. Erythrocytes count values showed no difference between groups as well as Hb, Hct, MCHC, Tr and serum Fe between groups, but there was a difference between groups with anemia compared to control group. Values of MCV and MCH differed between groups, with the highest ones in controls, and the lowest value in sideropenic anemia group. Values of RDW, TIBC and UIBC were increased in group with sideropenic anemia, compared to control and secondary anemia group. Ferritin differed between groups, with the highest value in secondary anemia group and the lowest value in sideropenic anemia group. Conclusion: Valid laboratory parameters in differential diagnosis of sideropenic and secondary anemia are Le, MCV, MCH, RDW, TIBC, UIBC and ferritin.

[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.