Herrera-Martínez AD, Henríquez-Recine MA, Estrada CPR

Language: Spanish
References: 20
Page: 206-215
PDF size: 129.64 Kb.

ABSTRACT

Consanguinity relationships in our rural population is a frequent practice which have tendency to be expressed like pathologies with autosomic recessive inheritance, most of them compromise patient’s life. One of these disorders, with a metabolic basis, is Glycogen storage disease type IV, not a common disease, in which there is a deficiency of the hepatic branching enzyme resulting at abnormal glycogen production that resembles an amylopectin-like structure; it accumulates in all tissues specially liver, skeletal muscle, brain, spinal cord and heart, by the way, this disorder is considered a systemic disease. It’s hepatic presentation curses with growth detention, hepatosplenomegaly, abdominal distention, hypotonia, wickness and muscular atrophy, hyporreflexia, progressive liver cirrhosis, portal hypertension, ascites, liver failure and early death. This is the case of a patient product of consanguineous parents in second generation with antecedent of: mother with two previous aborts, three dead sibs with hepatosplenomegaly; one of them with initial diagnosis of Gaucher Disease type I, nevertheless the autopsy revealed an extended cirrhosis and intracitoplasmatic inclusions PAS (+) at hepatocytes, spleen’s and brain’s cells suggesting Glycogen Storage Disease type IV. The patient had short stature (p10), hepatosplenomegaly, axial hypotonia, hyporrefelexia and psychomotor’s development delay, these signs correspond to the previously described pathology. She was hospitalized in several opportunities by acid base disorders without response to treatment; she died at the age of two years without definitely diagnosis which was clarified thanks to retrospective investigation of brother’s autopsy.

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