Vitamin D - Dependent Rickets, Type II Case Report.

AIM: The aim of this work the report of one case with vitamin D-dependent rickets, type II. METHODS: Diagnosis has been established based on anamnesis, physical examination, laboratory findings and radiological examination. RESULTS: A female child (age 25 months) has been hospitalized due to bone deformity, bone pain, alopecia and walking difficulties. The laboratory findings have revealed that the calcium values was low (1.20 mmol/L), phosphates in the reference value (1.30 mmol/L) the alkaline phosphatase value was quite high (852 IU/L), high value of parathyroid hormone (9.21 pmol/L), normal value of 25- hydroxyvitamin D, whereas the values of 1,25-dihydroxyvitamin D was high (185 µmol/L). Radiographic changes were evident and typical in the distal metaphysis of radius and ulna as well as in the bones of lower limbs (distal metaphysis of femur and proximal metaphysis of tibia and fibula). After treatment with calcium and calcitriol, the above mentioned clinical manifestations, laboratory test values and the radiographic changes in bones withdrew. CONCLUSIONS: Vitamin D-dependent rickets, type II is a rare genetic recessive disease, and its treatment includes a constant use of calcium and calcitriol.

Klippel-Feil syndrome associated with atrial septal defect.

INTRODUCTION: Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back of the head. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition. The etiology of Klippel-Feil syndrome and its associated conditions is unknown. The syndrome can present with a variety of other clinical syndromes, including fetal alcohol syndrome, Goldenhar syndrome, anomalies of the extremities etc. Associated anomalies occur in the auditory system, neural axis, cardiovascular system, and the musculoskeletal system. RESULTS AND DISCUSSION: Cardiovascular anomalies, mainly septal defects, were found in 7 patients in Hensinger's series, with 4 of these individuals requiring corrective surgery. In our case we have had registered a nonrestrictive atrial septal defect and corrective surgical intervention at age 18 months in the Santa Rosa Children's Hospital (USA) has been done successfully. Careful examinations of specialist exclude anomalies in other organs and systems. Radiographs and MRI of the thoracic and lumbosacral spine are obtained and other anomalies have been excluded.

X-linked hypophosphatemic rickets.

AIM: The aim of this work was the presentation of one case with X-linked hypophosphatemic rickets. METHODS: Diagnosis has been established based on the anamnesis, physical examination, anthropometric measurements, laboratory tests and radiological examination. RESULTS: A male patient (age 3 years) has been hospitalized due to the growth delay, bone deformity, bone pain and walking difficulties. The laboratory tests have revealed that the calcium value was in the reference range, that of phosphates was low (0.45 mmol/L), the alkaline phosphatase value was quite high (1864 IU/L), the value of parathyroid hormone and of 25- hydroxyvitamin D3 were in the reference ranges, whereas the value of 1,25- dihydroxyvitamin D3 was low. Radiographic changes were evident and typical in the distal metaphysis of radius and ulna as well as in the bones of the lower limbs. After treatment with synthetic analog of vitamin D3--calcitriol and phosphates, the above mentioned laboratory test values and the radiographic changes in bones withdrew. CONCLUSION: X- linked hypophosphatemic rickets is a rare disease inherited through X chromosome, and its treatment includes a constant use of calcitriol and phosphates with the aim of avoidance of clinical and laboratory manifestations.

Socio-demographic, Clinical and Laboratory Features of Rotavirus Gastroenteritis in Children Treated in Pediatric Clinic.

AIM: The aim of work was presentation of several socio-demographic, clinical and laboratory characteristics of gastroenteritis caused by rotavirus. THE EXAMINEES AND METHODS: The examinees were children under the age of five years treated at the Pediatric Clinic due to acute gastroenteritis caused by rotavirus. Rotavirus is isolated by method chromatographic immunoassay by Cer Test Biotec. RESULTS: From the total number of patients (850) suffering from acute gastroenteritis, feces test on bacteria, viruses. protozoa and fungi was positive in 425 (49.76%) cases. From this number the test on bacteria was positive in 248 (58.62%) cases, on viruses it was positive in 165 (39.0%), on protozoa in 9 (2.12%) cases and on fungi only one case. Rotavirus was the most frequent one in viral test, it was isolated in 142 (86.06%) cases, adenoviruses were found in 9 (5.45%) cases and noroviruses in only one case. The same feces sample that contained rotavirus and adenoviruses were isolated in five cases, whereas rotavirus with bacteria was isolated in the same feces sample in five cases. The biggest number of cases 62 (43.66%) were of the age 6-12 months, whereas the smallest number 10 (7.04%) cases were of the age 37-60 months. There were 76 (53.52%) of cases of male gender, from rural areas there were 81 (57.04%) cases and there were 58 (40.80%) cases during the summer period. Among the clinical symptoms the most prominent were diarrhea, vomiting, high temperature, whereas the different degree of dehydration were present in all cases (the most common one was moderate dehydration). The most frequent one was isonatremic dehydration in 91 (64.08%) cases, less frequent one was hypernatremic dehydration in 14 (9.85%) cases. The majority of cases (97.89%) had lower blood pH values, whereas 67 (47.17%) cases had pH values that varied from 7.16 -7.20 (curve peak), normal values were registered in only 3 (2.11%) cases. Urea values were increased in 45 (31.07%) cases (the maximum value was 26.5 mmol/L), whereas creatinine value was increased in 41 (28.87%) cases (maximum value was 302 mmol/L). CONCLUSION: The results show the high frequency of rotavirus infections in children hospitalized with acute gastroenteritis. Rotavirus may cause different dehydration degree with electrolyte, acid-base and other biochemical disorders. Preventing the infection caused by rotavirus is of a great importance.

Causes of infectious acute diarrhea in infants treated at pediatric clinic.

AIM: The aim of this work has been a presentation of causes of acute infectious diarrhea. MATERIAL AND METHODOLOGY: The examinees have been the infants treated at the Pediatric Clinic. The diagnosis has been established on the basis ofanamnesis, physical examination and feces examination on bacteria, viruses, protozoa and fungi. RESULTS: During the period of seven years a number of patients that suffered from acute infectious diarrhea was 1050 (31.82%) out of a total number (3300) with diarrhea. The bacteriological examination proved positive on majority of them or in 655 (62.38%) cases, the viral examination proved positive in 375 (35.72%) cases, whereas fungi examination proved positive in only 3 cases (0.28%). The most frequent bacteria have been Salmonellae species in 255 (38.93%) cases and E. coli in 142 (21.69%) cases, the less frequent have been Yersinia enterocolitica in 16 (2.44%) cases and Bacillus cereus in 4 (0.61%) cases. The most frequent serotypes of Salmonella have been S. Wien in 92 (36.07%) and S. Gloucester in 42 (16.47%) cases. Enteropathogenic E. Coli (most frequent serotypes O111 and O55) has been found in 112 (78.88%) cases. From the group of Shigella the most frequent has been Sh. Flexneri (most frequent serotypes 6 and 4) in 35 (58.33%) cases. The same feces sample of the majority of examinees 501 (76.48%) cases contained only one bacteria (single bacteria), two bacteria (associated bacteria) have been found in 102 (15.17%) cases, three types of bacteria have been found in 17 (2.59%) cases. Rotavirus has been isolated in 271 (72.26%) cases in comparison to adenoviruses that have been isolated in 65 (17.33%) cases. Rotavirus and adenoviruses have been isolated in 39 (10.40%) cases. CONCLUSION: Infectious acute diarrhea appears frequently, and as causes of it usually appear to be pathogenic bacteria in comparison to viruses, protozoa and fungi.

Acrodermatitis enteropathica.

AIM: The aim of the work was the presentation of one case with Acrodermatitis enteropathica. METHODS: Acrodermatitis enteropathica is diagnosed based on the pedigree, typical clinical manifestations on the skin, laboratory results, small bowel biopsy, skin biopsy and kariotype. RESULTS: The patient was a two years old male toddler, hospitalized due to skin changes, chronic diarrhoea and total alopecia. Skin changes appeared on akral of the limbs, inguinal and perineal region, joints, perioral area and eyes. These changes appeared in different forms (erythematous, squamous, eczematiod, psoriasisforme and crusted). In the eyes were present these changes: blepharitis and conjunctivitis. Also total alopecia was prezent. Diarrhoea was chronic and specific. Laboratory findings showed the existence of sideropenic anemia, hypoproteinemia with hypoalbuminemia and low plasma zinc concentration (7.5 micromol/L). Hystopathological changes on the small bowel and skin biopsy were not typical for this disease. Following the beginning of treatment with zinc sulphate, all clinical skin manifestations disappeared within two months, but the disease itself was characterized with the periods of exarcerbation and remission. CONCLUSION: Acrodermatitis Enteropathica is a rare hereditary autosomal recessive disease. Mandatory clinical manifestations are: skin changes, chronic diarrhoea and alopecia. Treatment with zinc is obligatory for the life time.

Frequency, etiology and several sociodemographic characteristics of acute poisoning in children treated in the intensive care unit.

AIM: The aim of this work has been to present the frequency, etiology and several other socio-demographic characteristics of acute poisoning in children. THE TREATED PATIENTS AND METHODS OF WORK: The treated patients were children of all age groups hospitalized in the Pediatric Clinic of Prishtina during year 2009. The study was done retrospectively. The diagnosis was done on the basis of heteroanamnesis and in several cases on the basis of the anamnesis data of a child, routine laboratory tests and toxicologic analysis. RESULTS: 66 (9.4%) poisoned children were treated in the Intensive Care Unit. The biggest number of patients, 37 (56.06%) of them, were male, and out of that number 36 (54.55%) cases were coming from rural areas. The biggest number of them 49 (74.98%) were over 2-6 years old. The poisoning was mostly caused through the digestive tract (ingestion), it happened with 55 cases (83.33%), 56 cases (84,80%) suffered from severe poisoning, whereas 59 cases (89,50%) suffered from accidental poisoning. Regarding the type of the substances that caused poisoning, the most frequent were drugs in 34 (51.50%) cases and pesticides in 20 (30.30%) cases. Among drugs, the most dominant were those belonging to a group of benzodiazepines (10 cases) and metoclopramide (4 cases). Among pesticides the most dominant one that caused poisoning was malation (5 cases), then paration and cipermetrina appeared in 3 cases each. The biggest number of cases, 64 (96.96%) of them, were treated, whereas 2 cases (3.40%) passed away. CONCLUSION: The practice proved that that our people are not well informed about the poisoning in general, therefore it is necessary that they be educated by the use of all media, written and electronic, as well as other methods of medical education.

Rate and time trend of perinatal, infant, maternal mortality, natality and natural population growth in kosovo.

AIM: THE AIM OF WORK HAS BEEN THE PRESENTATION OF THE RATE AND TIME TRENDS OF SOME INDICATORS OF THE HEATH CONDITION OF MOTHERS AND CHILDREN IN KOSOVO: fetal mortality, early neonatal mortality, perinatal mortality, infant mortality, natality, natural growth of population etc. The treated patients were the newborn and infants in the post neonatal period, women during their pregnancy and those 42 days before and after the delivery. METHODS: THE DATA WERE TAKEN FROM: register of the patients treated in the Pediatric Clinic of Prishtina, World Health Organization, Mother and Child Health Care, Reproductive Health Care, Ministry of Health of the Republic of Kosovo, Statistical Department of Kosovo, the National Institute of Public Health and several academic texts in the field of pediatrics. Some indicators were analyzed in a period between year 1945-2010 and 1950-2010, whereas some others were analyzed in a time period between year 2000 and 2011. RESULTS: The perinatal mortality rate in 2000 was 29.1‰, whereas in 2011 it was 18.7‰. The fetal mortality rate was 14.5‰ during the year 2000, whereas in 2011 it was 11.0‰, in 2000 the early neonatal mortality was 14.8‰, in 2011 it was 7.5‰. The infant mortality in Kosovo was 164‰ in 1950, whereas in 2010 it was 20.5‰. The most frequent causes of infant mortality have been: lower respiratory tract infections, acute infective diarrhea, perinatal causes, congenital malformations and unclassified conditions. Maternal death rate varied during this time period. Maternal death in 2000 was 23 whereas in 2010 only two cases were reported. Regarding the natality, in 1950 it reached 46.1 ‰, whereas in 2010 it reached 14‰, natural growth of population rate in Kosovo was 29.1‰ in 1950, whereas in 2011 it was 11.0‰. CONCLUSION: Perinatal mortality rate in Kosovo is still high in comparison with other European countries (Turkey and Kyrgyzstan have the highest perinatal mortality rate), even though it is in a continuous decrease. Infant mortality considerably decreased (from 164‰ in 1950 to 20.5‰ in 2010). The causes of infant mortality have still been tightly related with the causes of the developing countries. Next to this, natality and the natural population growth have experienced a considerably decrease in Kosovo. Even though there have been some improvements within the health care in Kosovo, there is still a lot to be done with the aim of constant improvement of health care in order to promote the health care for mothers and children.

Thrombocytopenia absent radius (TAR) syndrome.

AIM: The aim of the work was a presentation of one case with Thrombocytopenia absent radius (TAR) syndrome. METHODS: Diagnosis of TAR syndrome has been established on the basis of pedigree, laboratory findings (hemogram, platelet count, peripheral smear), bone marrow biopsy, radiological examination and karyotype. RESULTS: A patient was a two months old female child, hospitalized due petechial bleeding, upper limb anomalies and diarrhea. LABORATORY FINDINGS: red blood cell count was 2.1 x 1012/L, hemoglobin value was 62 g/L, white blood cell count indicated the existence of leukemoid reaction (40.0 x 109/L), the eosinophyle count at the leukocyte formula was increased (3%), bleeding time was prolonged (10'). The platelets at the peripheral blood smear were rarely present, whereas the megacaryocytes appeared in the bone marrow aspiration in the decreased number, or did not appear at all. At the radiological examination of the upper limbs, radius was absent in both shoulders. CONCLUSION: TAR syndrome is a rare hereditary disease. Obligatory clinical manifestations are: thrombocytopenia and bilateral absence of the radius. Prenatal diagnosis can be established during the 16th week of gestation by ultrasound and if it is continued with the pregnancy it is preferred that the platelet transfusion be given intrauterine. The mortality rate depends on the age of the patient and the platelet count.