A 26-year-old Bedouin with moderate thrombocytopenia and enlarged spleen and liver was diagnosed as having type I Gaucher disease based on the presence of Gaucher cells in the bone marrow biopsy and enzymatic determination of glucocerebrosidase activity. Molecular analysis excluded 10 common mutations in the glucocerebrosidase gene. Homozygosity for the C --> T mutation in nucleotide 259 of the cDNA (1763 genomic) was detected by digestion with restriction enzyme StyI after an amplification of a portion of exon 3 by mismatched primers. This is the first known case of homozygosity for this mutation. The fact that it produces a very mild phenotype, confirms a previous suggestion that 259T can be classified as a "mild" mutation. Association of the 259T mutation with the "Pv 1.1 +" haplotype is consistent with a common origin of the mutated alleles.
Hodgkin's disease (HD) is a nodal malignancy with a characteristically axial pattern of spread and with contiguous progression via lymphatic channels. Even when dissemination occurs beyond the lymphoreticular system, certain patterns of associated spread are frequently evident. We describe a case of nodular sclerosis HD with a 12-year indolent course and late involvement of the gluteal muscle. Initially, stage was IVb with spleen and bone marrow involvement, complicated by a Coomb's positive hemolytic anemia. Following chemotherapy, the patient had a partial response with the subsequent long course of slowly progressive disease invading first the urinary bladder and, later, the gluteus. Involvement of the gluteal muscle is a rare event in HD. Spread to the gluteus occurred most likely by contiguity, via retroperitoneal lymph nodes.
To prevent heat illnesses, a high index of suspicion should be maintained during a heat wave or while using unacclimatized workers in heavy labor. Employers should measure wet bulb globe temperature index (which correlates with deep body temperature) and plan work schedules within permissible threshold limit values [ 3 ] . In this respect, the workers' compensation insurer can provide critical technical know-how to its insureds; this will reduce heat-related injuries and claim expense.We hypothesize that the observed thrombocytopenia and leukopenia were caused by thermolysis since they were noted on the first day of heat exhaustion and progressively improved. Circulating platelets and neutrophils have a relatively short life span of 10 days and 10 hours, respectively [4]; this may explain their prompt replenishment from bone marrow. Although thrombocytopenia (with disseminated intravascular coagulation) is often observed in heat stroke [1,5], this is the first report of this potentially serious complication in a mild heat illness.
SUNITA LOHIYA
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