Hippel-Lindau disease • Retinal angiomatosis • Cerebellar angioma • In adult cerebellar signs and ICH • Sometimes angiomas of other organs • Therapy - surgery • Autosomally dominant
Dec 13, 2015
Hippel-Lindau disease
• Retinal angiomatosis
• Cerebellar angioma
• In adult cerebellar signs and ICH
• Sometimes angiomas of other organs
• Therapy - surgery
• Autosomally dominant
Neurofibromatosis (Morbus Recklinghausen)
• Neurofibroms – schwanomas
• At periferal nerves – periferal paresis
• At roots – root´s sy, spreading to spinal chanel – compresion of the spinal cord
• Autosomal dominant
• Chromosome 17, 22
Neurofibromatosis (Morbus Recklinghausen)
• Intracranial – n.VIII., II., epileptic seizures, ICH
• Risk of malignity
• Neurofibromas at skin
• Changes at skin – café-aulait
Ataxia teleangiectasia Louis-Barov sy
• Cerebellar ataxia
• Later teleangiektasie – conjuctives, skin
• Pat.-anat. – degeneration of Purkyne cells and granular cells
• Gen ATM also risk of cancer
Hydrocephalus
• Enlargment of external and internal space of CSF
• CSF – origin in plexus chorioideus lateral ventricles, III., IV. ventricle
• To cisterna cerebellomedularis (magna), resorption through pacchion´s granulations to sinus sagitalis superior and blood circulation
Hydrocephalus
• Obstructive – tumors of IIIth. ventricle, atresion, stenosis, gliosis, malformation of aqueduc Sylvii, tumors of fossa posterior, obstruction of foramen Magendi, Luschkae, malformations
• Communicant – obliteration of cysterns (inflammation), obliteration of subarachnoideal space after bleeding, subdural haematoma
Hydrocephalus
• „e vacuo“ – loss of brain tissue
• Clinical feature
• Big cranium, knocking on the head – sound of crack pot, eyes – sign of sunset