ESPE Abstracts

Introduction: Wolf-Hirschhorn syndrome (WHS) is a rare congenital disorder occurring in approximately 1/50.000 births, with a 2:1 femaleto-male predominance. It results from the hemizygous deletion encompassing the 4p16.3 region. The typical craniofacial phenotype is described as a « Greek warrior helmet appearance ».Case Report: A 5-year-old boy is brought to the pediatric endocrinology consultation for shor...

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 15-year-old boy from a non-consanguineous ma...

Introduction: Silver-Russell Syndrome (SRS) is a rare genetic disease with an estimated prevalence of 1/100,000. It is characterized by the association of severe intrauterine growth retardation, postnatal failure to thrive, particular facial dysmorphism and asymmetry of the limbs. SRS is a pathology of parental imprinting. It is dependent on several imprinted genes, acting through different molecular mechanisms.Case Report:</stro...

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: 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...