ESPE Abstracts

Background: If in European and American countries we have very clear statistics about growth in Cystic fibrosis (CF). It is not the same in the majority of African countries because it has long been considered as a very rare pathology there. Actually without newborn screening; CF is under-diagnosed and given the fatal nature of the disease, many patients are lost.Objective: describe the anthropometric parameters of infan...

Background: The ganglioneuroma (GN) is a benign tumor of the sympathetic nervous system following the sympathogonies that affects children and young adults. This is a rare tumor (7/1 000 000) which can be located along the sympathetic chain from the neck to the pelvis. In 20% of cases, the GN is localized in the adrenal.Objective and hypotheses: Report observations of eight patients with GN.Observations: Eight patients (two boys an...

Background: Hyperthyroidism is a condition rarely found in children. In the majority of cases, it is a Grave's disease whose clinical expression is very similar to that observed in adults.Objective: describe the clinical, evolutionary and therapeutic epidemiological features in children with hyperthyroidism and especially Grave's disease.Materials and Methods: This is a ret...

Background: Ectopic thyroid tissue can be found anywhere along the normal path of thyroid descent, but is most commonly found at the base of the tongue, in which case it may be referred to as a lingual thyroid. Although the patients are usually asymptomatic, it can lead to symptoms such as dysphonia and dysphagia. We present a child patient with a lingual thyroid resulting in severe dysphagia that was cured surgically.Case presen...

Background: Fahr syndrome is a rare degenerative disease, characterized by the presence of calcification of the basal ganglia.Autosomal recessive or dominant, variable penetrance.Usually asymptomatic in the first 2 decades, the disease typically manifests itself either at 30 years of age by the appearance of neuropsychiatric disorders, or at age 60 by progressive dementia with extrapyramidal syndrome.Case p...

The association of thyroid carcinoma with Graves' disease is considered rare and remains exceptional because it accounts for only 1-2% of childhood cancers.We report an observation of a 10-year-old girl from a goitrous endemic area (CHLEF) with exophthalmia. It shows signs of obvious thyrotoxicosis with with a very firm, homogeneous and asymmetrical goiter on the right.. A hormonal assessment, an echography and a thyroid scintigraphy confirm the ...

Background: Hypoparathyroidism (HPT) is present in 80% of patients with Autoimmune Polyendocrinopathy Syndrome type 1 (APS-1) – rare monogenic complex disease characterized also by adrenal failure, chronic candidiasis and a spectrum of other autoimmune disorders, including enteropathy and malabsorbtion. Active vitamin D and calcium are currently used for HPT treatment to maintain normal serum calcium levels.Objective and hypotheses: To describe a se...

Introduction: Endocrine complications observed in patients with thalassemia major (TM) are mainly secondary to martial overload. Hypoparathyroidism (HPT) is a late and rare complication, typical of the 2nd decade of life in transfusion-dependent thalassemia patients (TDT). It is usually associated with other iron overload conditions (diabetes, hypogonadism, heart failure, etc.). The incidence of PTH varies from 1.2% to 20% depending on the center. Men are more...

Introduction: Beta thalassemia major (BTM), a hereditary haemoglobinopathy due to a deficiency in the synthesis of beta-globin, leads in the homozygous state to severe anemia requiring regular transfusions associated with chelator treatment. The endocrine complications encountered in BTM, secondary to martial overload by direct damage to the glandular parenchyma, continue to be observed in our consultations, although early and well-managed chelation can reduce...

Obesity is a state of imbalance between food intake and energy expenditure leading to a positive energy balance. This condition may be due to the existence of a genetic syndrome: the Prader-Willi syndrome (PWS) is the genetic cause the most common obesity and Laurence-Moon Bardet-Biedl syndrome (BBS), autosomal recessive.Objectives: Our objective is to compare the cardio-metabolic risk factors in children with obesity gene to those of ch...