Сегодня сыграл в анекдот.. Все его знают...
Профессор во время обхода, глядя на рану:
- Это какой же мудак такую хреновину слепил?:
Молодёжь смотрит в пол...:
- Вы, профессор...
Профессор:
- Дааа???!!! Смотрите-ка какой интересный случай!!!
Я в Лебовахово буш-госпитале делаю обход :
- Что-о-о-о!!!??? Опять этот ххххх... голландский!!!
- Да нет, док... Голландец уже две недели не оперирует по причине запоя... Оперируете только вы...
- Дааа??? ...
Ребята, смотрите как интересно: это же классический случай семейной von Recklinghausen disease!!! 
Моё первое желание при виде этой девочки на операционном столе было отменить операцию... Но девчонка была уже интубирована...
(У нас тут я сам установил такой порядок: я разрешаю ребятам подавать на операцию больных и без согласованяи со мной - это должно развивать их умение принимать решение...
А оставляю за собой право отменить операцию, если сочту её ненужность... )
Я спасовал:
- Ну, ладно... Только потом это ведь всё может развалиться.... А у нас и дерматом не работает... Хорошо, потом направим девочку пластическому хирургу для кожной пластики... Поехали...
Короче, проявил непростительную слабость...
Сейчас, задним числом, не могу сказать, что девчонке моя операция была очень нужна...
Перед представлением девочки пластическому хирургу выяснил, что девочка страдает эпилепсией (1) – класическое для von Recklinghausen disease,
... Что у неё имеется искривление позвоночника – класическое для von Recklinghausen disease ...
что и у её мамы есть такая же болезнь - класическое для von Recklinghausen disease..
Что и брат её страдает теми болячкам на коже...
И что её родной дядя (мамин брат) страдает тем же..
Зализываю раны от собствеенного прокола развешианием бантиков:
- Док, это очень интерессный случай для публикации!!!.. Вам нужно будет сделать ребёнку рентген позвоночника, КТ головного мозга – там наверняка какая-нибудь видимая патология облочки головного мозга... У вас будет чудесная статья...!!! Поздравялю вас с такой редкостной находкой..
ВД
Neurofibromatosis (commonly abbreviated NF; neurofibromatosis type 1 is also known as von Recklinghausen disease) is a genetically-inherited disorder in which the nerve tissue grows tumors (neurofibromas) that may be benign or may cause serious damage by compressing nerves and other tissues. The disorder affects all neural crest cells (Schwann cells, melanocytes and endoneurial fibroblasts). Cellular elements from these cell types proliferate excessively throughout the body, forming tumors; melanocytes also function abnormally in this disease, resulting in disordered skin pigmentation and caf? au lait spots. The tumors may cause bumps under the skin, colored spots, skeletal problems, pressure on spinal nerve roots, and other neurological problems.[1][2]
Neurofibromatosis is an autosomal dominant disorder, which means only one copy of the affected gene is needed for the disorder to develop. Therefore, if only one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well. The severity in affected individuals can vary, this may be due to variable expressivity. Approximately half of cases are due to de novo mutations and no other affected family members are seen. It affects males and females equally.
Signs and symptoms
Patients with neurofibromatosis can be affected in many different ways. Morbidity is often a result of plexiform neuromas, optic gliomas, or acoustic neuromas, but mortality can also be associated with malignant transformation of the neuromas, such as neurofibrosarcomas[1] (often there is a malignant transformation in less than 3% of the cases of NF1[3]). There is a high incidence of learning disabilities or cognitive deficit[1][5] in patients with NF, particularly NF-1, however severe retardation is not part of the syndrome. Because of the tumor generating nature of the disorder and its involvement of the nervous system and also because of early onset macrocephaly in the pediatric population, there is often an increased chance of development of epilepsy in those affected. Neurofibromatosis also increases the risk of leukemia particularly in children; Children with NF-1 have 200 to 500 times the normal risk of developing leukemia compared to the general population.[1] Since the tumors grow where there are nerves, they can also grow in areas that are visible, causing considerable social suffering for those affected. The tumors can also grow in places that can cause other medical issues that may require them to be removed for the patient's safety.[6] Affected individuals may need multiple surgeries (such as reduction surgery, or Gamma knife surgery), depending on where the tumors are located. For instance, those affected with NF 2 might benefit from a surgical decompression of the vestibular tumors to prevent deafness.[2]
Seizures in neurofibromatosis 1.
Kulkantrakorn K, Geller TJ
Pediatr Neurol. 1998;19(5):347.
Neurofibromatosis 1 is a common, genetically transmitted neurodevelopmental disorder with a high potential to cause subcortical focal brain lesions. Although seizures occasionally complicate neurofibromatosis 1, they have not been characterized adequately in the disease. Other phacomatoses with attendant subcortical focal brain lesions have been associated with an evolution from generalized to focal-onset epilepsy. This evolution may be related to the cortical dysplasias that also appear in such disorders. Cortical dysplasias, although occasionally found in neurofibromatosis 1 epileptic patients, are not as frequent as in other phacomatoses. The authors retrospectively screened 499 neurofibromatosis 1 patients for the prevalence and etiology of seizures, their response to therapy, and the evolution of seizure type over time. The prevalence of epileptic seizures (4.2%) was about twice the prevalence in the general population. There were no significant cortical dysplasias identified radiographically nor was there a relationship among the presence of subcortical focal brain lesions and seizure type, response to treatment, or evolution of epilepsy in the neurofibromatosis 1 population. The authors' data do not suggest an ontogeny of epilepsy in neurofibromatosis 1 that is different from the general epileptic population.
Department of Neurology, Cardinal Glennon Children's Hospital, Saint Louis University School of Medicine, Missouri, USA.
J Natl Med Assoc. 1988 November; 80(11): 1205–1207.
PMCID: PMC2571550
Axial and Peripheral Skeletal Features of Von Recklinghausen's Disease in the African
G. T. A. Ijaduola, S. A. Ademiluyi, O. A. Olaloye, and D. A. Olarewaju
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Abstract
A study of axial and peripheral skeletal features of von Recklinghausen's disease in 26 Nigerian African adults has been carried out. Widened intervertebral foramina were the commonest lesions in the axial skeleton of these patients. They occurred in 24 (92.30 percent) of all cervical vertebrae; 20 (76.92 percent) of all lumbar vertebrae; and 16 (61.53 percent) of all thoracic vertebrae. Six (23.08 percent) had lumbar scoliosis. Dysplastic pedicles appeared in 4 (14.38 percent). Malignant changes with bony erosion occurred in two (7.69 percent). Dumbbell features of intraspinal involvement were observed in one patient. It is suggested that in view of the protean nature of presentation of this disease, physicians should always bear it in mind in cases of unusual skeletal lesions and watch carefully for its identifying signs.
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