P0441 / #383: GAUCHER DISEASE TYPE II: A CASE REPORT

Abstract

Aims & Objectives: Gaucher disease (EG) is a disease by lysosomal deposit, with deficiency of the lysosomal enzyme glucocerebrosidase, it is autosomal recessive. The approximate frequency in the world is 1: 60,000 newborns in the world in Chile, there is no official published statistics of confirmed cases. We present a case of type II EG from our center where the suspected diagnosis led us to confirm this disease Methods: Clinical case Female patient admitted, 10 months, with 2 extubation failures, 2 Cardiorespiratory arrests recovered, Obs Neurotransmitter disease, Left cranial nerve palsy VI (LCNP), Global developmental delay (GDD), Retrocolli - Lumbar back scoliosis, hepatosplenomegaly, suction disorder -growth and chronic malnutrition. Patient in mechanical ventilation, highlights the physical examination: pallor, capillary fill 3 seconds, PVIPCI, palpable hepatosplenomegaly. Results: During hospitalization, a decrease in its vital function associated with daily growth of hepatosplenomegaly and consumption bicytopenia, polytransfusion. Myelogram reports: cell lines present, multiple large round or oval cells, bluish nuclei compatible with deposit cells. Enzymatic Activity test is performed for diagnostic confirmation of type II EG. Beta-glucosidase result: 1.62 nmol / h / mg. Patient dies due to progressive multi-organ failure, confirming postmortem diagnosis Conclusions: conclusion The EG has alterations of visceral, hematological and bone type, this disease has three types being early type II, before two years and with rapid evolution, pyramidal symptoms and bulbar involvement predominate, a high diagnostic suspicion is needed for this disease, In order to initiate enzyme replacement therapy and perform genetic counseling.