title: Congenital hypopituitarism associated with hyperammonemia.
abstract: Neonatal onset hypopituitarism is a life threatening but potentially treatable metabolic condition. However, in the majority of cases it can be fatal due to the metabolic disturbances. We report a newborn with profound symptomatic hypoglycemia and hyperammonemia who initially was thought to have an inborn error of metabolism (IEM). After an initial falsely reassuring magnetic resonance imaging (MRI) brain scan, further endocrine investigation eventually led to the correct diagnosis and treatment.
authors.affiliation: Birmingham Children's Hospital, Steelhouse Lane, Birmingham, UK. abhaybhoyar@yahoo.com
authors.forename: Abhay
authors.initials: A
authors.lastname: Bhoyar
authors.forename: Andrew
authors.initials: A
authors.lastname: Short
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D020249:Hormone Replacement Therapy; D006801:Humans; D022124:Hyperammonemia / Q000151:congenital / Q000175:diagnosis*; D007003:Hypoglycemia / Q000209:etiology; D007018:Hypopituitarism / Q000151:congenital / Q000175:diagnosis* / Q000188:drug therapy; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D010902:Pituitary Gland / Q000002:abnormalities* / Q000473:pathology; D013974:Thyroxine / Q000627:therapeutic use; D016896:Treatment Outcome
chemical_list: D013974:Thyroxine