Search

Introduction: Multiple familiary exostoses is a rare hereditary bone disease that can affect both genders characterized by the growth of bone tumors (exostosis or osteochondomas) mainly at the extremities of the long bones. The onset may be from the infant period and up to the young adult. Aim: Presenting the case of a patient how was addmited with pain on her left thigh, discussing the diagnostic and therapeutic palette. Case Report: We present the case of an 8-year and 5-month-old female patient, from rural area who was admitted to the I st Pediatric Clinic of the Emergency Clinical Hospital for Children "Louis Turcanu", Timisoara for left thigh pain, accentuated by mobilization. The pacient had a thigh injury by falling in the parc. The clinical examination reveals a minimal echinosis (post-traumatic) in the mentioned area and a tumor at the level of the upper right arm. The patient has a positiv family history (the father) for multiple exostosis disease. This condition is suspected and investigated in our patient. Imaging investigations confirm this suspicion. Conclusion: Multiple familiary exostoses should be suspected in all patients who have parents with this condition. Disease management is complex: pediatrician, physical therapist, geneticist, surgeon. There is a need for a national registry of rare diseases to quantify them at national level. [ABSTRACT FROM AUTHOR]

Introduction: Celiac disease is a complex disorder that by affecting the absorption process affects other systems. Endocrine disorders associated with celiac disease are a real problem, unfortunately insufficient studied in children. Material and Method: For a 2-year period, 2015-2017, we followed patients with celiac disease that who associate endocrine disorders. The study protocol included rigorous anamnesis, clinical assessment, quantification of auxological data (real height compared to height for age, real weight compared to weight of height, body mass index according with gender and age, abdominal circumference). Biological investigations aimed to confirm Celiac Disease (according to the ESPGHAN guidelines) and endocrine investigations related to the clinical examination (TSH, FT3, FT4, antiTPO antibodys, antiTg antibodys, antiadrenal antibodies, glycemia, Haemoglobin A1c, Ca, Ca ++ Mg, Alkaline phosphatase, Vitamin D3). Imaging investigations were targeted: echography, DEXA osteodensitometry. Results: Of 7850 patients admitted for 2 years, 15 patients presented celiac disease and endocrine manifestations. Most patients were female, and they came from the urban environment. The main symptom was short stature, diarrhea, abdominal pain. The associated endocrine pathology was type I Diabetes mellitus, autoimmune thyroiditis, growth hormone deficiency, osteopenia and osteoporosis. Conclusions: Celiac disease is underdiagnosed. Endocrine abnormalities should be sought in all patients with celiac disease. Screening for Celiac Disease should be performed in all patients with small stature. The patient and parents should be informed of possible metabolic complications of the disease. [ABSTRACT FROM AUTHOR]