title: Worster-Drought syndrome (congenital bilateral perisylvian syndrome) with posterior pituitary ectopia, pituitary hypoplasia, empty sella and panhypopituitarism: a patient report.
abstract: Worster-Drought syndrome (WDS) (congenital bilateral perisylvian syndrome, congenital pseudobulbar paresia) is characterized by neuronal migration defect, pseudobulbar paralysis, epilepsy, neuromotor retardation and perisylvian dysplasia. We report a patient with WDS associated with posterior pituitary ectopia, pituitary hypoplasia, partial empty sella and panhypopituitarism, not previously reported in the literature. The 16.4 year-old female patient had severe growth retardation with height SDS -4.5, delayed puberty, microcephaly, pes equinovarus deformity, developmental delay, speech disorder and epilepsy. Laboratory findings, which revealed abnormal electroencephalography and bilateral perisylvian cortical dysplasia on cranial magnetic resonance imaging (MRI) were consistent with WDS. Endocrinological evaluation revealed secondary hypothyroidism and combined deficiency of adrenocorticotropin, gonadotropin and growth hormone (GH). Sella MRI showed congenital empty sella, anterior pituitary hypoplasia, ectopic neurohypophysis, and stalk agenesis. Appropriate replacement therapy was started. GH treatment resulted in a final height of 150.3 cm, appropriate for her target height. This is the first reported patient with WDS associated with congenital structural hypothalamic-pituitary abnormalities, including empty sella, pituitary hypoplasia, posterior pituitary ectopia, stalk agenesis and panhypopituitarism. GH has been successful in the treatment of her short stature.
authors.affiliation: Pediatric Endocrinology Unit, Department of Pediatrics, Istanbul Faculty of Medicine, Istanbul University, Turkey. firdevsbas@superonline.com
authors.forename: Firdevs
authors.initials: F
authors.lastname: Baş
authors.forename: Feyza
authors.initials: F
authors.lastname: Darendeliler
authors.forename: Zuhal
authors.initials: Z
authors.lastname: Yapici
authors.forename: Selman
authors.initials: S
authors.lastname: Gökalp
authors.forename: Rüveyde
authors.initials: R
authors.lastname: Bundak
authors.forename: Nurçin
authors.initials: N
authors.lastname: Saka
authors.forename: Hülya
authors.initials: H
authors.lastname: Günöz
mesh_terms: D000293:Adolescent; D000328:Adult; D002540:Cerebral Cortex / Q000002:abnormalities*; D002828:Choristoma / Q000175:diagnosis; D004652:Empty Sella Syndrome / Q000151:congenital* / Q000175:diagnosis; D005260:Female; D006801:Humans; D007018:Hypopituitarism / Q000150:complications / Q000151:congenital* / Q000175:diagnosis; D010902:Pituitary Gland / Q000002:abnormalities*; D010904:Pituitary Gland, Posterior; D013577:Syndrome