2. Neurocutaneous syndromes Neurofibromatosis 17q 11.2 22q11 (1:3000;1:33000~40000) o Tuberous sclerosis 9q34 16p133 (1:9500~1:20000) Sturge-Weber syndromes (Encephalofacial angiomatosis) 回复旦大学上海医学院儿科学系
Neurofibromatosis 17q11.2 ; 22q11 （1:3000; 1:33000~40000） Tuberous sclerosis 9q34 ; 16p13.3 （ 1:9500 ~ 1:20000） Sturge-Weber syndromes (Encephalofacial angiomatosis) 2. Neurocutaneous syndromes
(1) Neurofibromatosis ◆Skin: Cafe-au-lait Axillary freckles Peripheral neurofibromas ◆Eye: Pigmented bumps on the iris( isch nodules ◆ Brain Plexiform neurofibromas Optic pathway glioma Epilepsy 回复旦大学上海医学院儿科学系
(1) Neurofibromatosis Skin: – Cafe’-au-lait – Axillary freckles – Peripheral neurofibromas Eye: Pigmented bumps on the iris (Lisch nodules) Brain: – Plexiform neurofibromas – Optic pathway glioma – Epilepsy
Neurofibromatosis 回复旦大学上海医学院儿科学系
Neurofibromatosis
Neurofibromatosis 回复旦大学上海医学院儿科学系
Neurofibromatosis
(2) Tuberous sclerosis o Skin:- hypomelanotic macules ungual fibroma facial angiofibroma Shagreen plaque t Brain:- mental retardation seizures Eyes:-Retinal depigmented spots ◆ Brain ct: Cortical tubers, subependymal nodules, subependymal giant cell astrocytomas 回复旦大学上海医学院儿科学系
(2) Tuberous sclerosis Skin: – hypomelanotic macules – ungual fibroma – facial angiofibroma – Shagreen plaque Brain: – mental retardation – seizures Eyes: – Retinal depigmented spots Brain CT: – Cortical tubers, subependymal nodules, subependymal giant cell astrocytomas