title: Sturge-Weber syndrome: presentation with partial hypopituitarism.
abstract: Sturge-Weber syndrome (SWS) is a rare disorder involving central nervous system abnormalities. It manifests with a facial port-wine birthmark and a vascular malformation of the brain. Infants and children present with seizures and stroke-like episodes with focal neurologic deficits. Patients with Sturge-Weber syndrome carry the additional risk of developing hypothalamic-pituitary dysfunction, secondary to their central nervous system dysfunction. Although one would suspect the hypothalamic-pituitary axis would be at risk for impairment given the abnormalities that often occur in Sturge-Weber syndrome, they are not commonly recognized by clinicians. Increased awareness of this potential complication in patients with this rare disease of Sturge-Weber syndrome is needed. We hereby report a case of SWS with partial hypopituitarism and consider it to be important that these patients should undergo routine evaluation of pituitary function in the face of any relevant clinical manifestations.
authors.affiliation: Department of Endocrinology, Medwin Hospital, Hyderabad, Andhra Pradesh, India. dr.sunilkota@gmail.com
authors.forename: Sunil Kumar
authors.initials: SK
authors.lastname: Kota
authors.forename: Lalit Kumar
authors.initials: LK
authors.lastname: Meher
authors.forename: Siva Krishna
authors.initials: SK
authors.lastname: Kota
authors.forename: Sruti
authors.initials: S
authors.lastname: Jammula
authors.forename: Surabhi Venkata Satya
authors.initials: SV
authors.lastname: Krishna
authors.forename: Kirtikumar D
authors.initials: KD
authors.lastname: Modi
mesh_terms: D004827:Epilepsy / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000209:etiology; D006801:Humans; D007018:Hypopituitarism / Q000150:complications* / Q000175:diagnosis / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging; D008297:Male; D013341:Sturge-Weber Syndrome / Q000150:complications* / Q000175:diagnosis / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed; D055815:Young Adult