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Picture of the Month

Walter W. Tunnessen Jr, MD
Am J Dis Child. 1992;146(2):253-254. doi:10.1001/archpedi.1992.02160140119032.
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Denouement and Discussion 

Tuberous Sclerosis 

Manifestations  Tuberous sclerosis (TS) was first described by von Reclding-hausen in 1862. In 1880, Bourneville used the term tuberous to describe the potatolike findings in the cerebral gyri of affected individuals and the triad of mental retardation, seizures, and adenoma sebaceum (angiofibromas) associated with this disease. This neurocutaneous disorder is much more common than previously thought, has wide variability in its presentation, and affects many body systems.The criteria for diagnosis give some indication of the variability of this genetic disorder. Criteria for the definite diagnosis of TS include one or more of the following conditions:1 facial angiofibroma; ungal fibroma; retinal hamartoma; cortical tuber; subependymal glial nodule; and renal angiomyolipoma. Criteria for a presumptive diagnosis of TS include two or more of the following conditions: hypomelanotic macule; multicystic kidney; shagreen patch; cardiac rhabdomyoma; gingival fibroma; pulmonary lymphangiomyomatosis; dental enamel pits; peripapillary retinal hamartoma; infantile spasms;


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