ABSTRACT
Congenital intrahepatic portosystemic venous shunt (IHPSVS) is rare vascular anomaly. We present one case of a 14- month male child who presented with global developmental delay. Child had high ammonia levels with low glutamine and high bile salts on the previous investigations and had history of neonatal seizures since day 13 of life. On admission, serum ammonia levels were elevated to 112μmol/L. Other laboratory investigations including liver and renal function test, and electrolytes were normal. He was, diagnosed to have IHPSVS on the basis of Doppler and CT, and treated by embolization with n-butyl cyanoacrylate (glue). A brief review of diagnostic modalities and endovascular management for the IHPSVS is presented including the present case.
Subject(s)
Embolization, Therapeutic/methods , Enbucrilate/pharmacology , Follow-Up Studies , Hepatic Veins/abnormalities , Humans , Hyperammonemia/congenital , Hyperammonemia/diagnosis , Hyperammonemia/therapy , Infant , Magnetic Resonance Angiography , Male , Portal Vein/abnormalities , Risk Assessment , Tomography, X-Ray Computed , Treatment Outcome , Vascular Fistula/congenital , Vascular Fistula/diagnostic imaging , Vascular Fistula/therapy , Vascular Malformations/physiopathology , Vascular Malformations/diagnostic imaging , Vascular Malformations/therapyABSTRACT
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.