ABSTRACT
Leigh syndrome is an inherited neurodegenerative disorder of infancy that typically manifests between 3 and 12 months of age. The common neurological manifestations are developmental delay or regression, progressive cognitive decline, dystonia, ataxia, brainstem dysfunction, epileptic seizures, and respiratory dysfunction. Although the disorder is clinically and genetically heterogeneous, the histopathological and radiological features characteristically show focal and bilaterally symmetrical, necrotic lesions in the basal ganglia and brainstem. The syndrome has a characteristic histopathological signature that helps in clinching the diagnosis. We discuss these unique findings on autopsy and radiology in a young infant who succumbed to a subacute, progressive neurological illness suggestive of Leigh syndrome. Our case highlights that Leigh syndrome should be considered in the differential diagnosis of infantile-onset, subacute neuroregression with dystonia and seizures, a high anion gap metabolic acidosis, normal ketones, elevated lactates in blood, brain, and urine, and bilateral basal ganglia involvement.
Subject(s)
Humans , Male , Infant , Leigh Disease/pathology , Autopsy , Basal Ganglia/abnormalities , Brain Damage, Chronic/pathology , Neurodegenerative Diseases , Diagnosis, Differential , Neurologic ManifestationsABSTRACT
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
Primary hepatic lymphoma (PHL) is a rare condition. It is the most common hepatic neoplasm in patients with acquired immune deficiency syndrome (AIDS). We report a case of PHL in a patient with human immunodeficiency virus (HIV) infection and describe the imaging findings on biphasic multidetector CT (MDCT).