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Congenital hypopituitarism associated with hyperammonemia
1Birmingham Children's Hospital, Steelhouse Lane, Birmingham, UK. abhaybhoyar@yahoo.com
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.
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