ABSTRACT
We describe a case of an acquired subglottic cyst presented with persistent stridor and voice hoarsening in a baby diagnosed with Williams-Beuren syndrome that was born premature and required intubation during neonatal period. We also comment on whether this is a coincidence or there can be an association between impaired elastogenesis, a feature of patients with the syndrome and the formation of a subglottic cyst.
Subject(s)
Cysts/genetics , Laryngeal Diseases/genetics , Williams Syndrome/genetics , Chromosomes, Human, Pair 7/genetics , Cysts/drug therapy , Cysts/etiology , Humans , In Situ Hybridization, Fluorescence , Infant, Newborn , Intubation/methods , Laryngeal Diseases/diagnosis , Laryngeal Diseases/drug therapy , Laryngeal Diseases/etiology , Male , Thyroxine/therapeutic use , Williams Syndrome/complications , Williams Syndrome/diagnosis , Williams Syndrome/drug therapyABSTRACT
Giant prolactinomas are extremely rare in the pediatric population. We describe the case of a giant prolactinoma in a girl aged 14 years and 9 months old presented with delayed puberty. Medical treatment with dopamine agonist cabergoline resulted in a rapid normalization of prolactine levels and an impressive shrinkage and liquefaction of the mass as illustrated in serial MRIs. The therapeutic dilemma regarding the type of treatment (medical versus surgical) has now been replaced by the dilemma regarding the optimal treatment strategy and duration. Initial, rather optimistic, estimations regarding the probability of treatment discontinuation without increased relapsing risk have now been replaced by guidelines with more strict criteria for selecting candidates for treatment discontinuation.
