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Gabriela, 8 years old, was admitted in the 1st Pediatric Clinic, Timisoara for the evaluation of cholestasis syndrome. She was known with hypotonic cerebral palsy, epilepsy with polymorphic seizures partial controlled by anticonvulsants and 5 atraumatic leg fractures occurred in the last 3 years. At admission, she had pale skin, absent subcutaneous tissue and muscle atrophy with muscle atrophy. She had splint cast in the left lower limb and pseudoarthrosis in the 1/3 distal of the right leg. The biological investigations revealed normal liver enzymes except alkaline phosphatase, an abnormal coagulation and bone markers and the presence of starch and fiber in the stool, while the other tests were normal. The radiography of extremities showed osteolysis injuries and old left clavicle, upper third diaphysis of left humerus and femur and lower third diaphysis of right tibia fractures, with vicious callus secondary to Osteogenesis Imperfecta. We considered that all these fractures were manifestations of osteoporosis secondary to malabsorption syndrome, malnutrition, vitamin D and K deficiencies, chronic anticonvulsant therapy and Osteogenesis Imperfecta. The evolution was favorable under treated with calcium gluconate, vitamin D and K with the reduction of alkaline phosphatase and normalization of coagulation. The initiation of bisphosphonate therapy was taken into account. Case particularity: The association of osteoporosis and Osteogenesis Imperfecta responsible for the production of fractures in a patient with cerebral palsy and epilepsy. [ABSTRACT FROM AUTHOR]

Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract and retinal detachment. It can also cause hearing loss that is both conductive and sensorineural. Under-development of the middle part of face, ogival palate, spondylo-epiphyseal dysplasia and/or precocious arthritis can also occur. The authors present the case of a 7 months old infant with failure to thrive associated to a particular phenotype; facial dysmorphism and congenital cataract, who was referred for admission presenting an upper respiratory tract infection. Corroborating the clinical examination with the paraclinical evaluation and genetic assessment, including the karyotype, the authors established in this case the diagnosis of Stickler syndrome. [ABSTRACT FROM AUTHOR]

Introduction: Common causes of goiter in children include autoimmune disease and iodine deficiency. Purpose: The current study aims to frame goiter according to etiology in the pediatric population. Methods: A retrospective study was conducted over a period of 1 year and 6 months (January 2013-August 2014) in the Emergency Hospital for Children "Louis Țurcanu" Timisoara. The study group included a total of 36 patients aged between 4 to 18 years with a mean age of 12.3 years. Thyroid volume (Vt) was determined by ultrasound measurements and the diagnosis of goiter was established based on Vt> 97th percentile using diagrams adapted for age, gender. Results and Discussion: We found a high prevalence of Hashimoto thyroiditis, 21 patients (representing 58.33% of total). Of these, 14 patients (66.7%) associated type 1 diabetes, thyroiditis being the second autoimmune disease. Basedow's disease was diagnosed in 2 patients (5.55%), and one showed a solitary thyroid nodule. The other 14 patients (38.9%) with goiter had negative serology for autoimmunity, thus being labeled as diffuse nonimune goiter. The mean age of these patients was 12.2 years with the limits 4.9-18 years, 75% of whom were girls. All patients from this category had euthyroid; most (62%) came from Timisoara. In 5 patients (38%) coming from endemic areas, thyroglobulin was determined. All patients had normal levels of thyroglobulin and iodine deficiency could not be demonstrated. Urine iodine was not determined in the patients included in the present study. Conclusions: The autoimmune pathology is the most common cause of goiter in children. Nonimmune diffuse goiter was found at pubertal age, mostly in girls. Children with goiter, regardless of its etiology, require treatment with thyroxine during puberty even if they are euthyroid. Studies are needed on urine iodine in the West of Romania in the pediatric population. [ABSTRACT FROM AUTHOR]

A 7 year old patient known from his medical history with visual impairment from the age 2 years and 6 months, which have progressed once the child began school. Careful examination revealed the presence of a tumor formation with selar location, which proved to be craniopharyngioma. Postoperative evolution was relatively good, but a redoubtable complication appeared, namely diencephalic obesity. [ABSTRACT FROM AUTHOR]

Background: Autoimmune thyroiditis is the most frequent thyroid disorder in pediatric age, especially in females and puberty. Aim: The authors wanted to present the case of an adolescent girl diagnosed with autoimmune thyroiditis, describing all the difficulty encountered in the management of this pathology. Case presentation: We reported the case of 11 years old girl adolescent who was presented in 2011 into the Department of Endocrinology of " Louis Turcanu" Children Emergency Hospital, Timisoara for a tumor localized in the anterior neck. Her psychical examination revealed a well-developed adolescent, with enlarged and non-tender thyroid gland (stage II). Her laboratory assessment revealed thyroid-stimulating hormone level elevated and free thyroxine level suppressed with anti-thyroid peroxidase antibody and anti-thyroglobulin antibody increased. The patient was diagnosed with autoimmune thyroiditis with hypothyroidism and goiter and she initiated thyroid hormone replacement therapy at a dose of 25 μg/day. She remained euthyroid on a stable dose of Euthyrox without recurrences and normal growth and sexual development. In January 2013, the clinical examination was normal except the presence of dysphonia and an increased goiter. All the thyroid parameters were modified while the thyroid ultrasound identified multiples hypoechogenities in both thyroid lobes. The results of MRI and scintigraphy evaluations described a thyroid gland with increased size and decreased function, characteristic to the Hashimoto's thyroiditis. The cause of this thyroid dysfunction was the inappropriate administration of the hormonal treatment (at 12 o'clock, postprandial). Conclusions: The hormonal replacement therapy of hypothyroidism associated with autoimmune thyroid is permanent and should be monitoring although involve adolescents. The poor compliance to the hormone substitution is an important cause of treatment failure. [ABSTRACT FROM AUTHOR]

Objectives: To emphasize the negative role of chronic kidney disease in impaired growth and development of a female 7 year old patient, with chronic renal failure associating sexual developmental disorder - adrenogenital syndrome. Methods: The patient came to monthly follow-ups for the evaluation of her the anthropometric, nutritional and biological status. She was treated with a replacement therapy comprising of growth hormones and cortisone. Results: The girl was diagnosed at birth with polycystic kidney disease and sexual development disorder, karyotype 46XX - adrenogenital syndrome, salt-losing form. Cortisone replacement therapy was initiated in the neonatal period, under hormonal monitoring. At the age of 4 she had a creatinine clearance (Schwartz formula) of 17 ml/min/m2, height: H2009 = 83 cm, weight: W2009 = 8 kg and the therapy with growth hormones was initiated. In the following years, the increase in height was 12 cm and in weight 3 kg (H2010 = 95 cm, W2010 = 11 kg), while requiring the initiation of peritoneal dialysis. Currently, H2013 is 104 cm and W2013 is 13 kg. Conclusions: Progression of chronic kidney disease causes retardation of growth and development by: inadequate production of erythropoietin with secondary anemia, bone and mineral disease secondary to renal dysfunction, chronic metabolic acidosis and disruption of the hypothalamic-pituitary growth hormone axis. Adrenogenital syndrome association is an additional factor for impaired growth and development. [ABSTRACT FROM AUTHOR]

Objectives: We highlight the role of echography in the follow-up of an 8 year old girl with neurogenic bladder, right megaureter due to reflux; left obstructive megaureter, and impaired renal function. Methods: The patient came quarterly to follow-up, to evaluate renal function and possible infections, while the hydronephrosis was evaluated by echography. She had intermittent vesical catheterization and antibiotic prophylaxis. Results: The girl was diagnosed at 3 months of age with complex renal malformation, one month later she underwent bilateral cutaneous ureterostomy. Ureteral reimplantation surgery was performed at the age of 1 year and 6 months. At age 6, abdominal echography revealed bilateral hidronephrosis grade IV, which was sustained by uroMRI and stage 2 renal failure shown by renal function tests. Intermittent vesical catheterization 4 times/day and antibiotic prophylaxis were initiated. The echographic follow-up reported that the reflux remained mostly unchanged: left kidney had hydronephosis grade III, and the right kidney presented hydronephosis grade III/IV. Nevertheless the parenchymatous index increased, which correlates with the improved renal function, from stage 2 renal failure (moderate reduction in glomerular filtration rate=58mL/min/1.73m2) to normal glomerular filtration rate. The blood urea nitrogen and creatinine levels slightly decreased. The urinary tract infection rate remained low. Conclusions: Long-term intermittent catheterization as method of treatment and prevention is associated with stable reflux status, renal function, and infection rate, which in the end result in better quality of life for the patient. Echographic method of follow-up is reliable for medical examinations since it is informative, harmless and economical. [ABSTRACT FROM AUTHOR]

Background: Various studies have described fecal markers as powerful markers of inflammation of the intestinal mucosa in patients with inflammatory bowel disease (IBD). Calprotectin is a calcium-binding protein found in abundance in neutrophils, where it accounts for 60% of the protein in the cytosol. Aim: Several studies have compared fecal calprotectin with activity indexes and/or endoscopic/histological evaluation to confirm intestinal inflammation in IBD patients. This study proposed to assess the acuraccy of fecal excretion biomarker calprotectin in children with chronic gastrointestinal manifestations. The objective was to assess calprotectin as indicator of IBD activity using a commercial rapid semi-quantitative test (Cal Detect). Material and methods: 82 children (aged 18 months -18 years), presenting at least one of the following symptoms: diarrhea, rectal bleeding, recurrent abdominal pain, weight loss, constipation or alternative bowel habits were clinical and biological examined. Stool samples were collected from all of them and tested for calprotectin using a commercially available kit. In parallel, all patients were referred to colonoscopy. Results: 14 children were diagnosed with IBD (9 associating Crohn's disease - CD and 5 ulcerative colitis - UC). The remaining of 68 children formed the control lot, and their diagnoses included: chronic constipation, rectal and/or sigmoydian polyps, eosinophylic proctitis associated with cow's milk protein allergy or irritable bowel syndrome. The overall specificity (Sp) for IBD was 66% for a positive cut off point of 15 μg/g, and became 100% when raising the positive cut off point to 60μg/g (p= 0.0003). Conclusions: Raised fecal calprotectin more than 15 μg/g should prompt endoscopic assessment in children with chronic intestinal symptoms, since an organic bowel disorder is likely. Being an invasive method, colonoscopy can be avoided in children with gastrointestinal symptoms and low positive levels of fecal calprotectin between 0 and 15 μg/g. Fecal calprotectin detected by this rapid semi-quantitative test represents a sensitive and specific marker for detection of intestinal inflammation in children with CD and UC at a positive cut off point of 60 μg/g. [ABSTRACT FROM AUTHOR]

Background: An accurate monitoring of mucosal inflammation is important for an effective management of children with inflammatory bowel disease (IBD). The aim of the study was to evaluate the efficacy of the fecal calprotectin as indicator of inflammatory activity in children with Crohn's disease (CD) and ulcerative colitis (UC) by correlating it with biological, clinical and endoscopic indices. Methods: A total of 22 children presenting IBD were evaluated (16CD/6UC). Fecal calprotectin, blood tests, Pediatric CD Activity Index (PCDAI), Pediatric UC Activity Index (PUCAI), CD Endoscopic Index of Severity (CDEIS) and Mayo Disease Activity Index (MDAI) were used for children evaluation at diagnosis and after 6 months of treatment. Results: In CD children, calprotectin showed a high correlation (r = 0.775) with the histologic grade of mucosal inflammation, showed by CDEIS and a medium correlation with CRP(r = 0.623). lt didn't correlated with PCDAI (r = 0.325). In UC children, calprotectin correlated moderate (r=0.581) with CRP and it was strongly correlated with PUCAI (r = 0.752) and MDAI (r = 0.796). Calprotectin levels decreased significantly after 6 months of treatment in all IBD patients (p = 0.038). Conclusions: In CD children fecal calprotectin was more accurate in detection of active mucosal inflammation when compared to clinical score and serum marker CRP. The relatively poor correlation between calprotectin levels and PCDAI might not be due to a calprotectin low sensitivity in CD children, but to the fact that PCDAI is mostly a clinical score and is not sensitive enough to detect subclinical activity of the disease. Fecal calprotectin correlated well with endoscopic indices both in CD and UC children. So, it can provide a reliable noninvasive marker for monitoring IBD activity. [ABSTRACT FROM AUTHOR]