Abstract

QUINTANA, Betzabeth; LOPEZ, Karolina; NAVARRO, Dianora  and  BELANDRIA, Katiuska. Liver nodules in an adolescent with glycogenosis type Ia. Gen [online]. 2012, vol.66, n.3, pp.187-189. ISSN 0016-3503.

The type I glycogenosis Gierke's Disease is a metabolic disease, hereditary deficiency of glucose-6-phosphatase, which causes abnormal accumulation of glycogen in liver, kidney and intestinal mucosa. Clinical manifestations: hypoglycemia, hepatomegaly, hyperlactataemia, hyperlipidemia. The long-term complications: gout, progressive renal failure and hepatic adenoma in the second or third decade of life. Case report: A male adolescent of 12 years in control after diagnosis of glycogenosis Ia at 7 months, nutritional treatment and multidisciplinary management. The patient has poor metabolic control with recurrent hypoglycemia, and hospitalizations secondary to dietary transgression. Physical exam: moderate mucosal pallor, truncal obesity, doll face, protruding abdomen, hepatosplenomegaly and lordosis. In ultrasound guidance, it is reported: nephromegaly bilateral and diffuse hepatosplenomegaly with nodular lesions, multiple, intrahepatic, suggesting hepatic adenoma. The biopsy of the lesions: diffuse hepatocellular damage, glycogen storage disease type I. Abdominal CT: 4 hepatomegaly with nodular lesions (adenomas) and space-occupying lesion uptake in liver segment IV. In its annual monitoring is required abdominal ultrasound, alpha-fetoprotein and other markers, because it is a premalignant lesion, which occurred early. In case of clinical deterioration, the patient is a candidate for liver transplantation, in case of damage.

Keywords : Glycogen Storage Disease; Adenomas; Hipertrygliceridemia; Hepatomegaly; Nephromegaly.