Chronic myopathy with a partial deficiency of the carnitine palmityltransferase enzyme

To date, chronic myopathy has not been reported (to our knowledge) to occur in carnitine palmityltransferase (CPT) deficiency, a disorder of muscle lipid metabolism. We describe two patients with CPT deficiency: a mother, who had a partial CPT deficiency associated with fixed proximal weakness but without rhabdomyolysis, and her son, who had a complete CPT deficiency (95% reduction in enzyme activity) and who suffered from classic attacks of exercise-induced rhabdomyolysis but had normal strength on recovery. Careful examination of family members of patients with complete CPT deficiency is suggested in order to identify clinically affected heterozygotes.     

Hemolytic uremic syndrome associated with cisplatin therapy

An adolescent with a small round cell tumor of the chest wall, who was treated with cisplatin, developed hemolytic uremic syndrome with severe hypertension, which ultimately contributed to her death. Cisplatin's role as a possible causative agent of this syndrome is discussed. Recommendations are made for monitoring abnormalities that may signal the onset of this potential complication.     

Renal cell carcinoma in patients with tuberous sclerosis

An adolescent with anemia and weight loss was found to have bilateral renal cell carcinoma (hypernephroma). Further investigation revealed an underlying tuberous sclerosis that had escaped previous clinical detection. Several reports of this association were subsequently found when the world's literature was reviewed. Physicians treating patients with tuberous sclerosis should be aware of the possible development of these renal malignancies in their patients.