RESUMEN
Gaucher's disease is a rare autosomal recessive inborn error of metabolism. As the presentation of this disease is similar to more common diseases like malaria, portal hypertension, hematological disorders, and kala-azar, this rare disease may not be thought of as a differential diagnosis, and a high index of suspicion is required to avoid diagnostic delay. We report a case of type 1 Gaucher's disease in an adult male born out of a consanguineous marriage. He was from a region where the prevalence of infectious diseases and sickle cell anemia is high. He presented with abdominal distension, hepatosplenomegaly, and pancytopenia. Bone marrow biopsy showed the presence of Gaucher cells. Glucocerebrosidase levels showed decreased enzyme activity. The genetic study revealed a very rare mutation that has not been reported in the 1000 Genomes database till now. Retrospectively, the most important clue was his birth out of a consanguineous marriage of his parents.
RESUMEN
BACKGROUND: Paint thinners containing a mixture of volatile organic solvents have considerable potential for solvent abuse. Deaths from solvent inhalation have been reported but most of them relate to intentional solvent abuse and occur soon after exposure. Accidental death due to unintentional inhalation of solvent vapors can also occur suddenly but more often, death results from late complications secondary to multi-organ toxicity. Malfunctioning of the cardiorespiratory, renal, and central nervous systems as a result of latent-toxic effects of solvent exposure has received little attention. CASE REPORT: An adult male unintentionally inhaled an excessive amount of paint thinner vapors and immediately developed central nervous system effects, followed by severe cardiorespiratory and renal pathologies that ultimately led to death 11 days after exposure. CONCLUSION: Acute unintentional inhalation of paint thinner fumes resulted in serious multi-organ toxicity and death. This case strongly suggests the need to employ suitable precautionary measures while handling volatile organic solvents in a confined area.