Bourneville syndrome
Overview
A rare genetic disorder characterized by harmartomatous skin nodules, seizures, phakomata and bone lesions
Symptoms
* Seizures * Mental retardation * Skin lesions * Eye lesions * Behavioral problems * No symptoms - some patients are asymptomatic * Glioma-angioma lesions in brain cortex * Glioma-angioma lesions in brain white matter * Seizures * Mental deficiency * Behavioral problems * Autism * Intracranial mineralization * Basal ganglia mineralization * Hamartomas of retina * Hamartomas of optic nerve * Fibrous-angiomatous lesions in nasolabial fold * Fibrous-angiomatous lesions in the cheeks * Fibrous-angiomatous lesions * White skin macules * Café au lait spots * Fibromatous skin plaques * Fibromatous skin nodules * Cyst-like areas in phalanges * Cyst-like bone lesions * Angiomyolipomata * Tubular enlargement in kidneys * Renal cysts * Hyperplasia of tubular cells in kidney * Pit-shaped tooth enamel defects * Facial nodular lesion * Mental retardation * Physical retardation * Epileptic seizures * Sebaceous adenomas * Warts * Skin polyps * Nevi * Retinal tumors * Involuntary movements * Local paresis * Hyperplastic connective tissue * Hyperplastic muscular tissue * Phakomas * Microgyri * Macrogyria * Multiple intracranial calcification * Osteoporosis of skull * Osteoporosis * Hyperactivity * Prenatal benign brain tumor * Collagen accumulation in skin on lower back * Collagen accumulation in skin on nape of neck * Yellowish-brown skin patches on lower back * Yellowish-brown skin patches on nape of neck * Orange peel skin texture on lower back * Orange peel skin texture on nape of neck * Fibromas around nail * Fibromas under nail * Delayed speech * Slow motor development * Learning disabilities * Childhood episodes of screaming * Childhood episodes of crying * Childhood episodes of rage * Childhood episodes of catatonic rigidity * Facial angiofibroms * Benign brain tumor * Behavioral problems * Aggression * Autism * Impaired communication skills * Impaired social interaction skills * Benign kidney tumors * Benign heart tumors * Benign lung tumors * Benign retinal tumors
Causes
* Tuberous sclerosis * Ataxia telangiectasia * Epidermal naevus syndrome * Neurofibromatosis type 1 * Sturge-Weber syndrome * Gorlin's basal cell nevus syndrome * von Hippel-Lindau syndrome * Neurocutaneous melanosis
Prognosis
Patients may experience a few or all of the symptoms with varying degrees of severity. (Source: Genes and Disease by the National Center for Biotechnology) ... The prognosis for individuals with tuberous sclerosis varies depending on the severity of symptoms. There is no cure.
Treatment
* Symptomatic * Anticonvulsants - for seizures * Dermabrasion * Laser removal techniques - for skin problems * Medications - for neurological or behavioral problems. * Anti-hypertensives * Surgical tumor removal