Congenital hypopituitarism associated with hyperammonemia.
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.
Bhoyar
Abhay
A
Birmingham Children's Hospital, Steelhouse Lane, Birmingham, UK. abhaybhoyar@yahoo.com
Short
Andrew
A
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
D013974:Thyroxine