Hereditary neurocutaneous angioma: a new genetic entity?
نویسندگان
چکیده
A family pedigree with a possible new genetic syndrome characterised by the presence of angiomas, systemic in nature, affecting particularly the skin and the central nervous system, is described. Angiomas of the CNS seem to have a marked tendency to bleed. The condition shows a clearly dominant mode of transmission, four subjects in three generations being affected. Differentiation from other conditions belonging to the vascular abnormalities subgroup of phakomatoses is presented.
منابع مشابه
Review of Neurocutaneous Disorders Related to the Neurosurgical Patient Neurocutaneous Disorders
Background: The neurocutaneous disorders, also known as the phakomatoses, are a group of hereditary conditions that have neurological manifestations as well as benign cutaneous lesions; both tissue types share a common embryologic origin. Neurofibromatosis: Neurofibromatosis (NF) is the most common neurocutaneous disorder. Although there are as many as 8 distinct forms of NF, the term is most c...
متن کاملAntenatal MRI in the diagnosis of tuberous sclerosis.
Tuberous sclerosis (TS) is an autosomal dominant neurocutaneous syndrome characterized by multiorgan hamartomas, epilepsy and mental retardation. Prenatal genetic testing for a mutation is laborious, time consuming and not widely available because of the genetic heterogeneity, polymorphism and a high rate of denovo mutations(1,2). We hereby highlight the utility of prenatal magnetic resonance i...
متن کاملConvusions and homonymous hemianopsia as initial manifestations of Sturge-Weber syndrome in a 64-year-old male.
Sturge-Weber syndrome (SWS), or encephalotrigeminal angiomatosis, is the most frequent neurocutaneous syndrome, characterised by vascular malformations which manifest sporadically. The full presentation includes brain vascular malformations (pial or leptomeningeal angioma), cutaneous abnormalities (facial angioma) and ocular abnormalities (choroidal angioma). We present the case of a patient wi...
متن کاملThe cutaneous angioma of Sturge-Weber syndrome.
A 16-month-old male presented with focal motor seizures with secondary generalization. On physical exam, a bilateral facial cutaneous angioma, sharply demarcated by the distribution of the ophthalmic and maxillary branches of the trigeminal nerve, was noted (Figure 1). Magnetic resonance imaging (MRI) demonstrated calcification and atrophy of the right frontal lobe as well as an associated pial...
متن کامل[Sturge-Weber disease in a child].
Sturge Weber Disease is one of the important neurocutaneous syndrome characterized by abnormities of both the integument and central nervous system. We present here a classical case of Sturge Weber Disease. This 16 month male child had facial angioma and seizures. CT Scan head was consistent with the diagnosis.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of medical genetics
دوره 16 6 شماره
صفحات -
تاریخ انتشار 1979