Italian physician GB Pellizzi studied the pathology of the cerebral lesions.
He noted their dysplastic nature, the cortical heterotopia and defective myelination.
She was treated with quinquina, bromide of camphor, amyl nitrite, and the application of leeches behind the ears. The post-mortem examination disclosed hard, dense tubers in the cerebral convolutions, which Bourneville named Sclérose tubéreuse des circonvolutions cérébrales.
In addition, whitish hard masses, one "the size of a walnut", were found in both kidneys.German physician Hartdegen described the case of a two-day-old baby who died in status epilepticus.he attended to Marie, a 15-year-old girl with psychomotor retardation, epilepsy and a "confluent vascular-papulous eruption of the nose, the cheeks and forehead".She had a history of seizures since infancy and was taken to the children's hospital aged three and declared a hopeless case.German pathologist Rudolf Virchow published a three-volume work on tumours that described a child with cerebral tuberous sclerosis and rhabdomyoma of the heart.
His description contained the first hint that this may be an inherited disease: the child's sister had died of a cerebral tumour.Scottish dermatologist John James Pringle, working in London, described a 25-year-old woman with subnormal intelligence, rough lesions on the arms and legs, and a papular facial rash.Pringle brought attention to five previous reports, two of which were unpublished.Lutembacher believed the cysts and nodules to be metastases from a renal fibrosarcoma. Earl studied 29 patients with TSC who were in mental institutions. Rigler showed it was possible to diagnose tuberous sclerosis using pneumoencephalography to highlight non-calcified subependymal nodules.This complication, which only affects women, is now known as lymphangioleiomyomatosis (LAM). They described behaviour—unusual hand movements, bizarre attitudes and repetitive movements (stereotypies)—that today would be recognised as autistic. These resembled "the wax drippings of a burning candle" on the lateral ventricles. Moolten proposed "the tuberous sclerosis complex", which is now the preferred name.Finally, the start of the 21st century saw the beginning of a molecular understanding of the illness, along with possible non-surgical therapeutic treatments.