title: Neonatal-onset panhypopituitarism in a girl with Brachmann-De Lange syndrome.
abstract: We report on a girl with recurrent hypoglycemia since age 2 days and severe impairment of physical and neurological development. Panhypopituitarism was recognized at age 5 months. The diagnosis of Brachmann-De Lange syndrome (BDLS) was also made. Replacement therapy has avoided further episodes of hypoglycemia, improved growth, and allowed partial psychomotor catch-up. Though we are not aware of any other report of panhypopituitarism in patients with BDLS, we suggest that hormonal derangement may play a role in the manifestations of this syndrome.
authors.affiliation: Cattedra di Puericultura, Istituto per l'Infanzia Burlo Garofolo, Trieste, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Tonini
authors.forename: S
authors.initials: S
authors.lastname: Marinoni
mesh_terms: D003635:De Lange Syndrome / Q000150:complications*; D005260:Female; D006801:Humans; D007018:Hypopituitarism / Q000150:complications*; D007231:Infant, Newborn