title: Arthrogryposis multiplex congenita and pituitary ectopia. A case report.
abstract: We report a patient with a form of arthrogryposis multiplex congenita who developed seizures at 4 months of age that proved to be hypoglycemic. Further evaluation of the etiology of hypoglycemia led to the discovery of partial anterior hypopituitarism, with normal posterior pituitary function. Neuroimaging revealed an ectopic neurohypophysis with very small anterior pituitary, the presumed anatomic basis for his endocrine dysfunction. A chance association between the pituitary ectopia and the arthrogryposis cannot be ruled out. However, it is more likely that in the present patient a common genetic mechanism may be the basis for both the arthrogryposis and the pituitary dysfunction.
authors.affiliation: Division of Pediatric Neurology, University of Catania, Italy. parano@mbox.unict.it
authors.forename: E
authors.initials: E
authors.lastname: Parano
authors.forename: R R
authors.initials: RR
authors.lastname: Trifiletti
authors.forename: R
authors.initials: R
authors.lastname: Barone
authors.forename: V
authors.initials: V
authors.lastname: Pavone
authors.forename: P
authors.initials: P
authors.lastname: Pavone
mesh_terms: D000015:Abnormalities, Multiple; D001176:Arthrogryposis / Q000150:complications* / Q000235:genetics; D002828:Choristoma / Q000473:pathology*; D006801:Humans; D007003:Hypoglycemia / Q000150:complications / Q000209:etiology; D007018:Hypopituitarism / Q000150:complications* / Q000235:genetics / Q000473:pathology; D007223:Infant; D008297:Male; D010902:Pituitary Gland / Q000002:abnormalities*; D012640:Seizures / Q000209:etiology