Biomaterial Database

Cerebral aneurysm associated with von Recklinghausen's neurofibromatosis: a case report. 1998

J Z Zhao, and X D Han

Department of Neurosurgery, Beijing Tian Tan Hospital, China.

BACKGROUND von Recklinghausen's neurofibromatosis is a hereditary disease that may affect any organ or system of the body primarily or secondarily, including the vascular system. Among the rare cerebrovascular abnormalities, the most common is stenosis or occlusion of the cerebral artery. Intracranial aneurysms are uncommon. METHODS A case of an intracranial cerebral aneurysm associated with von Recklinghausen's neurofibromatosis is reported. A 55-year-old woman presented with a history of intermittent headache for 2 months and right oculomotor nerve palsy for 1 month. Widespread cutaneous neurofibromas and angiomas were found over her trunk and limbs with prominent cafe-au-lait spots. X-ray showed that her left lung was compressed by a large mass in the left chest with rib defects and lateral spinal curvature. Right internal carotid angiography revealed a saccular aneurysm between C1 and C2. Craniotomy to clip the aneurysm could not be performed because the mass in her chest made intubation for general anaesthesia almost impossible. CONCLUSIONS The clinical features of this case are discussed together with a review of 15 similar cases in the literature. There are different theories about this disorder. We agree that the malformations are derived not only from ectodermal, but also from mesodermal pathology. In terms of our case, we consider the progression of this disease to be slow.

UI	MeSH Term	Description	Entries
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D009456	Neurofibromatosis 1	An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).	Peripheral Neurofibromatosis,Recklinghausen Disease of Nerve,von Recklinghausen Disease,Cafe-au-Lait Spots with Pulmonic Stenosis,Molluscum Fibrosum,NF1 (Neurofibromatosis 1),Neurofibromatosis I,Neurofibromatosis Type 1,Neurofibromatosis Type I,Neurofibromatosis, Peripheral Type,Neurofibromatosis, Peripheral, NF 1,Neurofibromatosis, Peripheral, NF1,Neurofibromatosis, Type 1,Neurofibromatosis, Type I,Pulmonic Stenosis with Cafe-au-Lait Spots,Recklinghausen Disease, Nerve,Recklinghausen's Disease of Nerve,Recklinghausens Disease of Nerve,Watson Syndrome,von Recklinghausen's Disease,Cafe au Lait Spots with Pulmonic Stenosis,Neurofibromatoses, Peripheral,Neurofibromatoses, Type I,Neurofibromatosis, Peripheral,Peripheral Neurofibromatoses,Pulmonic Stenosis with Cafe au Lait Spots,Syndrome, Watson,Type 1 Neurofibromatosis,Type 1, Neurofibromatosis,Type I Neurofibromatoses,Type I, Neurofibromatosis,von Recklinghausens Disease
D002532	Intracranial Aneurysm	Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)	Aneurysm, Cerebral,Aneurysm, Intracranial,Basilar Artery Aneurysm,Berry Aneurysm,Brain Aneurysm,Cerebral Aneurysm,Giant Intracranial Aneurysm,Mycotic Aneurysm, Intracranial,Aneurysm, Anterior Cerebral Artery,Aneurysm, Anterior Communicating Artery,Aneurysm, Basilar Artery,Aneurysm, Middle Cerebral Artery,Aneurysm, Posterior Cerebral Artery,Aneurysm, Posterior Communicating Artery,Anterior Cerebral Artery Aneurysm,Anterior Communicating Artery Aneurysm,Middle Cerebral Artery Aneurysm,Posterior Cerebral Artery Aneurysm,Posterior Communicating Artery Aneurysm,Aneurysm, Berry,Aneurysm, Brain,Aneurysm, Giant Intracranial,Aneurysm, Intracranial Mycotic,Aneurysms, Basilar Artery,Aneurysms, Berry,Aneurysms, Brain,Aneurysms, Cerebral,Aneurysms, Giant Intracranial,Aneurysms, Intracranial,Aneurysms, Intracranial Mycotic,Artery Aneurysm, Basilar,Artery Aneurysms, Basilar,Basilar Artery Aneurysms,Berry Aneurysms,Brain Aneurysms,Cerebral Aneurysms,Giant Intracranial Aneurysms,Intracranial Aneurysm, Giant,Intracranial Aneurysms,Intracranial Aneurysms, Giant,Intracranial Mycotic Aneurysm,Intracranial Mycotic Aneurysms,Mycotic Aneurysms, Intracranial
D002533	Cerebral Angiography	Radiography of the vascular system of the brain after injection of a contrast medium.	Angiography, Cerebral,Angiographies, Cerebral,Cerebral Angiographies
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man