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Biomedical subjects

W I Schievink

Publications and source records attributed to W I Schievink.

At least 55 records · Page 3Linked to original sources
PubMed1997

Genetics of intracranial aneurysms.

The etiology and pathogenesis of intracranial aneurysms are clearly multifactorial, with genetic factors playing an increasingly recognized role. Intracranial aneurysms have been associated with numerous heritable connective tissue disorders, which account for at least 5% of cases. Of these disorders, the most important are Ehlers-Danlos syndrome Type IV, Marfan's syndrome, neurofibromatosis Type 1, and autosomal dominant polycystic kidney disease; the association with intracranial aneurysms, however, has been firmly established only for polycystic kidney disease. Familial intracranial aneurysms are not rare but account for 7 to 20% of patients with aneurysmal subarachnoid hemorrhage and are generally not associated with any of the known heritable connective tissue disorders. First-degree relatives of patients with aneurysmal subarachnoid hemorrhage are at an approximately fourfold increased risk of suffering ruptured intracranial aneurysms, compared to the general population. Various possible modes of inheritance have been identified in families with intracranial aneurysms, suggesting genetic heterogeneity. Although the benefits have never been quantified, screening for asymptomatic intracranial aneurysms should be considered in families with two or more affected members. The yield of such a screening program may approximate 10%. Although it is unlikely that there is a single gene with major effect, much effort is currently being directed at locating intracranial aneurysm genes.

Connective Tissue Diseases↗
PubMed1997

Intracranial aneurysms in Marfan's syndrome: an autopsy study.

OBJECTIVE: Marfan's syndrome is a heritable connective tissue disorder that has been associated with intracranial aneurysms. However, the prevalence of intracranial aneurysms in Marfan's syndrome is unknown and pathological studies of affected vessels have not been reported. We therefore examined the neuropathological findings in a group of patients with Marfan's syndrome. METHODS: We identified all patients with Marfan's syndrome in whom postmortem examination had been performed at the Mayo Clinic between 1969 and 1993. RESULTS: Autopsy included examination of the brain in seven patients with Marfan's syndrome (five men and two women with a mean age of 28 yr). Each of two patients had one or more intracranial aneurysms. The first patient, a 32-year-old man who died as a result of aortic dissection, was observed to have an incidental saccular supraclinoid carotid artery aneurysm (7 mm). Microscopic examination of the remainder of the cerebral arteries revealed duplication and fragmentation of the internal elastic lamina. The second patient, a 20-year-old man who died as a result of a subarachnoid hemorrhage, had ruptured saccular supraclinoid carotid artery (3 mm) and anterior cerebral artery (20 mm) aneurysms as well as unruptured fusiform middle cerebral artery (18 mm) and posterior cerebral artery (13 mm) aneurysms. Microscopic examination of the cerebral arteries revealed widespread changes consisting of intimal proliferation, medial degeneration, and fragmentation of the internal elastic lamina. CONCLUSION: These findings confirm an association between Marfan's syndrome and intracranial aneurysms. Microscopic involvement of cerebral arteries in Marfan's syndrome may be variable, even among those with intracranial aneurysms.

Adult↗
PubMed1997

Familial intracranial aneurysms: an autopsy study.

OBJECTIVE: Familial intracranial aneurysms are more common than has been appreciated, but systematic autopsy studies of affected individuals have not been reported. We reviewed the autopsy findings of a group of patients with familial aneurysms to elucidate the nature of the putative underlying arteriopathy. METHODS: Using a computerized diagnostic index, we identified all patients with intracranial aneurysms in whom postmortem examination had been performed at the Mayo Clinic between January 1, 1992, and December 31, 1994. The medical records, radiographic studies, and autopsy findings of these patients were reviewed. RESULTS: Among the 28 patients with intracranial aneurysms, 3 (11%) had one or more first-degree relatives with documented intracranial aneurysms. The mean age of the three patients (two women and one man) was 54 years. Microscopic examination of the vascular system revealed medial changes, consisting of degeneration of elastic fibers and increased ground substance, in the systemic arteries of 2 of the 3 patients with familial aneurysms but in none of the 25 patients with sporadic aneurysms. These nonspecific medial changes involved both common and extracranial internal carotid arteries in one patient and the entire aorta as well as intracranial and common carotid arteries in the other patient. CONCLUSION: These observations suggest that an underlying arteriopathy in patients with familial intracranial aneurysms involves the tunica media and commonly may affect systemic (extracranial) arteries.

Adult↗
PubMed1997

Aortic dissection decades following internal carotid artery dissection--report of two cases.

Recurrent dissections involving carotid, vertebral, or renal arteries have been described in patients with spontaneous cervical artery dissections, with a maximal interval between dissections of fourteen years. The authors describe 2 patients in whom aortic dissections developed twenty-five and forty years, respectively, following carotid artery dissections. These 2 patients constituted 8% of the total number of patients from Rochester, Minnesota, who were diagnosed with aortic dissection between 1987 and 1992. The first patient, a forty-five-year-old woman, presented in 1948 with right neck pain and headache, associated with several episodes of transient numbness of the right face and numbness and clumsiness of the left upper and lower extremities. Examination showed right miosis. Angiography showed a stenosis of the extracranial right internal carotid artery beginning several centimeters from the bifurcation. She died at age eighty-five from an aortic dissection. The second patient, a thirty-eight-year-old man, noted left orbital and frontotemporal headaches and drooping of the left eyelid in 1962. Examination showed left oculosympathetic palsy. Angiography showed stenosis and an aneurysm in the midportion of the extracranial left internal carotid artery. He died at age sixty-three from an aortic dissection. These cases suggest that following a carotid artery dissection the risk of a recurrent arterial dissection may remain elevated for a prolonged period of time and the recurrent dissection may involve the aorta.

Adult↗
PubMed1997

Intracranial arterial dolichoectasia in autosomal dominant polycystic kidney disease.

Autosomal dominant polycystic kidney disease (ADPKD) is a systemic disorder with a variety of cardiovascular manifestations. This study presents a group of patients with ADPKD who had intracranial arterial dolichoectasia. One hundred seventy-eight ADPKD patients were screened with magnetic resonance angiography, 40 ADPKD patients had conventional angiography, and 98 ADPKD patients underwent a brain autopsy. For comparison, 360 patients without ADPKD who had magnetic resonance angiography and conventional angiography or brain autopsy were also studied. The prevalence of asymptomatic intracranial arterial dolichoectasia was 2.2% (4 of 178), 2.5% (1 of 40), and 2.0% (2 of 98) in the three ADPKD groups, respectively. None of the patients without ADPKD had intracranial arterial dolichoectasia. In addition to the seven patients with asymptomatic disease, two ADPKD patients with vertebrobasilar dolichoectasia had posterior circulation ischemic symptoms. The mean age of the nine patients (five men and four women) was 56.6 yr (range, 41 to 67 yr). The posterior circulation was involved in five patients, the anterior circulation was involved in two patients, and both were involved in two patients. Arterial dissection was believed to have caused middle cerebral artery dolichoectasia in one patient, and intracranial arterial dissections were strongly suspected in two other patients. Six of the nine patients with intracranial arterial dolichoectasia had additional vascular manifestations of ADPKD. Some patients with ADPKD are at an increased risk of developing intracranial arterial dolichoectasia and dissections. Recognizing this association is important because (1) it may be a cause of stroke; (2) it may mimic a saccular aneurysm on radiographic studies; and (3) it suggests that the arteriopathy of ADPKD may be more generalized than previously believed.

Adult↗
PubMed1997

Natriuretic peptide system and endothelin in aneurysmal subarachnoid hemorrhage.

The natriuretic peptide system consists of atrial natriuretic peptide (ANP), brain natriuretic peptide (BNP), and C-type natriuretic peptide (CNP). The system is implicated in the control of body fluid homeostasis, causes natriuresis and diuresis (ANP and BNP), and regulates vascular tone (CNP). A reciprocal relationship between ANP and endothelin (ET) has been suggested, and earlier studies have documented a possible role of ET in cerebral vasospasm after aneurysmal subarachnoid hemorrhage (SAH). The authors studied plasma ANP, BNP, CNP, and ET for 6 consecutive days in 13 patients with SAH by using radioimmunoassay. The median admission values for ANP were 31.5 pg/ml (range 16.8-323 pg/ml [normal 15 +/- 7 pg/ml]); for BNP, 45.3 pg/ml (range 2.2-80.2 pg/ml [normal 12 +/- 9 pg/ml]); for CNP, 7.7 pg/ml (range < 2-20 pg/ml [normal 5.2 +/- 3 pg/ml]); and for ET, 11 pg/ml (range 6.5-25.1 pg/ml [normal 7.2 +/- 4 pg/ml]). Additional increases (defined as > 100% increase on two consecutive measurements) were noted in ANP (11 patients), BNP (10 patients), and CNP (three patients), and resulted in a negative fluid balance in 10 of the 13 patients. The CNP increased in three of four patients with cerebral vasospasm and in one of nine patients without cerebral vasospasm (Fisher's exact test, p = 0.2). No major fluctuations in plasma ET were noted. In seven patients, the plasma ET level did not increase beyond 10 pg/ml during the days of measurement. In six patients, only an occasional sample showed an increase to a maximum of 25 pg/ml. Changes in BNP, ANP, and CNP were independent of each other. The authors conclude that both plasma ANP and BNP increase after SAH and often result in a negative fluid balance. Plasma ANP and BNP seem differentially regulated in the presence of SAH but not by the level of the plasma ET. The possible role of CNP as a regulatory response to cerebral vasospasm needs further exploration.

Adult↗
PubMed1996

Progressive intracranial aneurysmal disease in a child with progressive hemifacial atrophy (Parry-Romberg disease): case report.

Intracranial aneurysms are uncommon in children, and their presence often leads to suspicion of a systemic connective tissue disorder. We describe the case of a young male patient with progressive hemifacial atrophy (Parry-Romberg disease) and multiple intracranial aneurysms, a previously undescribed association, and propose that a neural crest defect may be the underlying abnormality in this patient. At age 5 years, the patient was treated for a giant aneurysm of the left cavernous carotid artery with carotid ligation in the neck and a superficial temporal artery-middle cerebral artery bypass. At age 12 years, the patient was similarly treated for a giant aneurysm of the right cavernous carotid artery, which had progressed from a previously noted minute dilatation at age 5 years, with carotid ligation and a superficial temporal artery-middle cerebral artery bypass. At age 21 years, the patient was endovascularly treated for a de novo saccular aneurysm of the left posterior cerebral artery at the P1-P2 junction and a fusiform aneurysm of the distal left posterior cerebral artery. Various studies have suggested that the facial dermis, the subcutaneous tissues, and the skeleton, as well as the tunica media of the cervicocephalic arteries, all arise from neural crest cells, and a disorder of neural crest migration might explain the constellation of findings in this patient.

Adolescent↗
PubMed1996

Intracranial aneurysms and cervicocephalic arterial dissections associated with congenital heart disease.

OBJECTIVE: The number of patients with congenital heart disease who survive to adolescence and adulthood continues to increase. We review our experience with noninfectious intracranial aneurysms and cervicocephalic arterial dissections in patients with congenital heart disease, expanding the clinical spectrum of the cerebrovascular abnormalities that may be encountered in this group of patients. METHODS: All patients with congenital heart disease and intracranial aneurysms of cervicocephalic arterial dissections, who were evaluated at the Mayo Clinic between 1969 and 1992, were identified. RESULTS: Congenital heart disease was diagnosed in 3 (8%) of 36 children with intracranial aneurysms, in 5 (0.3%) of 1994 adults with intracranial aneurysms, in 1 (4%) of 25 children with cervicocephalic arterial dissections, and in 5 (2%) of 250 adults with cervicocephalic arterial dissections. The mean age of the 14 patients was 32 years (range, 13-58 yr). The congenital heart disorders consisted of complex cardiac anomalies in three patients (truncus arteriosus, transposition of the great arteries, and tricuspid atresia in one patient each), pulmonic valve or arterial stenosis in two patients, aortic coarctation in four patients, and bicuspid aortic valve in five patients. Only one patient had an intracranial aneurysm and coarctation of the aorta. CONCLUSION: Individuals with a variety of congenital heart disorders may be at an increased risk of intracranial aneurysm development and cervicocephalic arterial dissection, particularly in adolescence. The muscular arteries of the head and neck are derived from neural crest cells and the neural crest is also of major importance in early cardiac development, suggesting that an abnormality of the neural crest may be the common pathogenetic factor explaining this association.

Adolescent↗
PubMed1996

Recurrent spontaneous arterial dissections: risk in familial versus nonfamilial disease.

BACKGROUND AND PURPOSE: Among patients with spontaneous cervical artery dissections, the risk of recurrent arterial dissection is relatively low at 1% per year, but this risk may be higher for patients with a family history of arterial dissections. We compared the risk of a recurrent arterial dissection in patients with familial versus non familial disease. METHODS: Long-term follow-up was established in 200 patients (104 women and 96 men with a mean age of 44.9 years) with spontaneous cervical artery dissections evaluated at a single institution between 1970 and 1990. RESULTS: Among the 200 patients, 10 (5%) were identified who had a family history of spontaneous arterial dissections. In a multivariate analysis, family history was the only significant variable associated with the risk of recurrent dissection (X2=15.51; P=.0001). A recurrent arterial dissection was identified in 5 (50%) of the 10 patients with familial disease compared with 11 (5.8%) of the 190 patients with nonfamilial disease, with an estimated relative risk of 6.3 (95% confidence interval, 2.2 to 18.3; P=.0007). CONCLUSIONS: Among patients with spontaneous cervical artery dissections, a family history of arterial dissection is an important risk factor for the development of a recurrent arterial dissection.

Adolescent↗
PubMed1996

Cranial nerve palsy in spontaneous dissection of the extracranial internal carotid artery.

Cranial nerve palsy was present in 23 of 190 consecutive adult patients (12%) with spontaneous dissection of the extracranial internal carotid artery. Ten patients (5.2%) had a syndrome of lower cranial nerve palsies (with invariable involvement of cranial nerve XII with or without additional involvement of cranial nerves XI, X, and IX), seven (3.7%) had palsy of cranial nerve V, and five (2.6%) had a syndrome of ocular motor palsies. Palsy of cranial nerve VIII and ischemic optic neuropathy occurred in one patient each. Three patients had dysgeusia without other cranial nerve involvement, presumably due to involvement of the chorda tympani nerve. Headache or face pain (often unilateral) was present in 83% of patients. Other associated manifestations were cerebral ischemic symptoms, bruits, or oculosympathetic palsy. In one patient, cranial nerve palsy was the only manifestation of internal carotid artery dissection, and in another patient, the disease presented only as a palsy of cranial nerve XII and oculosympathetic palsy. In six patients, a syndrome of hemicrania and ipsilateral cranial nerve palsy was the sole manifestation of internal carotid artery dissection. Cranial nerve palsy is not rare in internal carotid artery dissection. Compression or stretching of the nerve by the expanded artery may explain some but not all of the palsies. An alternative mechanism is likely interruption of the nutrient vessels supplying the nerve.

Adult↗
PubMed1996

Traumatic occlusion of one limb of an intracranial arterial fenestration: an uncommon cause of stroke.

Three weeks after an automobile accident, a 35-year-old man experienced left throat and neck pain, numbness of the left face and tongue, dysphagia, left arm pain and weakness, and left miosis. At age 27, he had suffered an aneurysmal subarachnoid hemorrhage. Angiography at that time had also demonstrated a fenestration of the left intracranial vertebral artery. At the time of the second presentation, angiography showed that one of the limbs of the fenestration had become occluded. Although the vast majority of intracranial arterial fenestrations are asymptomatic, occlusion of one of the limbs of a fenestration may be the cause of stroke.

Adult↗
PubMed1996

Follow-up of intracranial aneurysms in autosomal dominant polycystic kidney disease by magnetic resonance angiography.

The purpose of this study was to assess the value of magnetic resonance angiography (MRA) in the follow-up of patients with autosomal dominant polycystic kidney disease (ADPKD) and saccular intracranial aneurysms (ICA), the risk of MRA-defined growth of asymptomatic incidental ICA, and the rate of development of MRA-defined de novo ICA in these patients. Between 1989 and 1995, 15 asymptomatic incidental ICA measuring 1.5 to 6.5 mm in diameter, three symptomatic aneurysms, and one asymptomatic concurrent aneurysm were detected by MRA in this study in 18 patients from 15 families. Four-vessel cerebral angiography in the three patients with symptomatic ICA and autopsy in one patient with an asymptomatic incidental ICA did not reveal additional aneurysms undetected by MRA. Thirty MRA studies were obtained in 10 of the 15 patients with incidental ICA during a cumulative clinical follow-up of 500 months (mean, 33.3; range, 0 to 65 months). The cumulative interval between the initial and the last MRA was 306 months (mean, 30.6; range, 14 to 51 months). No change in aneurysmal size or development of de novo aneurysms was detected. Eight MRA studies were obtained in the three patients with symptomatic ICA during a cumulative clinical follow-up of 130 months (mean, 43.3; range, 23 to 64 months). The cumulative interval between the first and the last MRA was 95 months (mean, 31.7; range, 15 to 49 months). Development of de novo aneurysms was not detected. These results indicate that MRA is an appropriate technique to follow small asymptomatic incidental ICA in patients with ADPKD and that the risk for rapid growth of these aneurysms is low. Although the results of this study should be viewed as preliminary, they do not suggest a higher rate of development of de novo aneurysms or a higher frequency of multiple aneurysms in patients with ADPKD and ICA as compared with patients with sporadic ICA in the general population.

Adult↗
PubMed1996

Spontaneous spinal cerebrospinal fluid leaks and intracranial hypotension.

Spinal cerebrospinal fluid (CSF) leaks are often implicated as the cause of the syndrome of spontaneous intracranial hypotension, but they have rarely been demonstrated radiographically or surgically. The authors reviewed their experience with documented cases of spinal CSF leaks of spontaneous onset in 11 patients including their surgical observations in four of the patients. The mean age of the six women and five men included in the study was 38 years (range 22-51 years). All patients presented with a postural headache; however, most had additional symptoms, including nausea, emesis, sixth cranial-nerve paresis, or local back pain at the level of the CSF leak. All patients underwent indium-111 radionucleotide cisternography or computerized tomographic (CT) myelography. The location of the spontaneous CSF leak was in the cervical spine in two patients, the cervicothoracic junction in three patients, the thoracic spine in five patients, and the lumbar spine in one patient. The false negative rate for radionucleotide cisternography was high (30%). Subdural fluid collections, meningeal enhancement, and downward displacement of the cerebellum, resembling a Chiari I malformation, were commonly found on cranial imaging studies. In most patients, the symptoms resolved in response to supportive measures or an epidural blood patch. Leaking meningeal diverticula were found to be the cause of the CSF leak in four patients who underwent surgery. In three patients these diverticula could be ligated with good result but in one patient an extensive complex of meningeal diverticula was found to be inoperable. Two patients had an unusual body habitus and joint hypermobility, and two other patients had suffered a spontaneous retinal detachment at a young age. In conclusion, spontaneous spinal CSF leaks are uncommon, but they are increasingly recognized as a cause of spontaneous intracranial hypotension. Most spinal CSF leaks are located at the cervicothoracic junction or in the thoracic spine, and they may be associated with meningeal diverticula. The radiographic study of choice is CT myelography. The disease is usually self-limiting, but in selected cases our experience with surgical ligation of leaking meningeal diverticula has been satisfactory. An underlying connective tissue disorder may be present in some patients with a spontaneous spinal CSF leak.

Adult↗
PubMed1996

Alpha-1-antitrypsin phenotypes among patients with intracranial aneurysms.

A deficiency of alpha 1-antitrypsin has been implicated in the development of arterial aneurysms, including intracranial aneurysms. The authors determined the prevalence of alpha 1-antitrypsin deficiency of different phenotypes in 100 consecutive patients with intracranial aneurysms and compared the distribution of alpha 1-antitrypsin phenotypes to that in the general population (904 people). The study population consisted of 44 men and 56 women with a mean age of 52 years (range 15-81 years). The heterozygous alpha 1-antitrypsin deficiency states (PiMS and PiMZ) were more common in patients (16%) than in the general population (7%), providing an odds ratio of 2.56 (95% confidence interval (CI) 1.32-4.75; p = 0.005). In addition, one patient (1%) was homozygous for the deficient allele (PiZZ) compared to an expected number of 0.015, providing an odds ratio of 67.0 (95% CI 2.0-363.3; p = 0.015). These findings lead the authors to suggest that the heterozygous and homozygous alpha 1-antitrypsin deficiency states are genetic risk factors for the development of intracranial aneurysms.

Adolescent↗