ESPE Abstracts

Introduction: Ketoacidosis is an acute metabolic complication often indicative of diabetes in children. It can be severe and life-threatening, especially when complicated by major hypertriglyceridemia (HTg). This association is rare in pediatrics but should not be overlooked.Observation: A 8-year-old girl admitted for treatment of severe diabetic ketoacidosis (DKA). The biological assessment, apart from the diagnostic cr...

Introduction: Graves' disease (GD) is an autoimmune hyperthyroidism characterized by the presence of TSH receptor antibodies (TRAb) present in 95% of cases. GD is the most common cause of exophthalmos, which is unilateral in 15% of cases, and falling within the framework of Graves orbitopathy (GO). GO concerns half of patients with GD. The presence of GO is very rare in patients with negative TRAb.Observation: This ...

Introduction: Thyroid ophthalmopathy, also known as Graves ophthalmopathy, is an autoimmune condition that can affect the orbital and periorbital tissue. Antibodies stimulating the TSH receptor (TRAb) are thought to be involved in the pathogenesis of this disease. Our report describes a case of Graves’ ophthalmopathy presented solely with symptoms of the eyes with normal thyroid function tests and negative immunoreactive TSH receptor autoantibody.<p ...

Introduction: Prader-Willi syndrome (PWS) is a rare genetic disease characterized by hypothalamic-pituitary dysfunction associated with major hypotonia during the neonatal period. In childhood, the main problems are the appearance of hyperphagia with the risk of morbid obesity, learning difficulties and behavioral disorders. It concerns one case in 25,000 births.Observation: A boy aged 15, from a non-consanguineous marri...

Introduction: Homocystinuria due to cystathionine-beta-synthase (CBS) deficiency is a rare abnormality of methionine catabolism. The diagnosis is suspected on the increase in plasma total homocysteine (Hcyt) and plasma methionine (Met). The diagnosis is confirmed by looking for bi allelic mutations in the CBS gene.Observation: A 14-year-old boy from a consanguineous marriage with no history. 48 hours before his admission...

Introduction: Gayet-Wernicke encephalopathy (GWE) is a disorder characterized by acute onset confusion, nystagmus, partial ophthalmoplegia, and ataxia due to thiamine deficiency. The diagnosis is mainly clinical. The disorder may resolve with treatment, persist, or degenerate into Korsakoff psychosis.Observation: A 5-year-old boy, born at full term, referred to our specialist consultation for growth retardation. The clin...

Introduction: Wolf-Hirschhorn syndrome (WHS) is a rare congenital disorder occurring in approximately 1/50.000 births, with a female predominance. It results from the hemizygous deletion encompassing the 4p16.3 region. The typical craniofacial phenotype is described as a “Greek warrior helmet appearance.”Observation: A 5-year-old boy is brought to the pediatric endocrinology consultation for short stature. He...

Introduction: Pituitary stalk interruption syndrome (PSIS) is a congenital anomaly of the pituitary gland responsible for pituitary insufficiency. Its prevalence is unknown but approximately 1000 cases have been reported to date. It is characterized by a triad associating a very thin or interrupted pituitary stalk, an ectopic or absent posterior pituitary gland (EPP) and hypoplasia of the anterior pituitary gland, visible on MRI. Its etiology remains unknown.<...

Introduction: McCune-Albright syndrome (MAS) is characterized by fibrous dysplasia (FD), cafe-au-lait skin spots and precocious puberty (PP). MAS is a rare disorder and its prevalence is estimated to be between 1/100 000 and 1/1 000 000. Activating somatic mutations of GNAS gene located on chromosome 20q13 encoding the α-subunit of the regulatory Gsα protein are responsible for the entity.Observation: This is...

Introduction: Leprechaunism syndrome is a very rare genetic autosomal recessive disorder (Prevalence 1 in a million births), and is caused by mutations in the insulin receptor gene.Case presentation: We report the case of a 5-month-old Algerian female, born to consanguineous parents. Birth was via caesarean section at 37 weeks gestation due to severe intrauterine growth restriction: birth weight 1800 g (< - 3.66SD), h...