NIEMANN-PICK DISEASE WITH CHOROID PLEXUS DISEASE

Abstract

OBJECTIVE: To report a rare case of a patient with Niemann-Pick disease that evolved with CNS involvement, especially of the choroid plexus, and, thus, draw attention to this nosological entity. CASE REPORT: Infant, female, 6 months old, previously healthy, from the Municipal Hospital of Salvador, with a history that on 06/12, started to develop with intense tachydyspnea. On 06/13, she sought medical assistance at a UPA where she was immediately transferred to the child's hospital in Juazeiro, where she was hospitalized using Oxacillin and oxygen therapy for about 20 days. The child evolved with worsening of the breathing pattern, decreases in oxygen saturation, requiring greater oxygen supply. The patient died at 8 months of age, after 63 days admitted to the pediatrica intense care unit of HUPES due to cardiorespiratory arrest. The autopsy report describes that macrophages were found with spongy cytoplasms in the spleen, lungs, thymus, lymph nodes, lymphoid aggregates of the gastrointestinal tract, liver and central nervous system, as well as in the choroid plexus. Resistance to the action of diastasis indicates that the accumulated intracellular material is lipids, since this enzyme digests complex carbohydrates. The genetic-molecular analysis for the NPC1 and NPC2 genes (associated with Niemann-Pick C disease) identified the possibly benign variant (c.-32C> T) in heterozygosity in the NPC 1 and NPC2 genes. FINAL CONSIDERATIONS: It should be noted that this disease, although rare, can be one of the causes of disease of the central nervous system, and must be diagnosed early, since the patient's life expectancy depends on the importance and repercussion of the symptoms.