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.

Moyamoya disease: the disorder and surgical treatment.

OBJECTIVE: To discuss the clinical features of moyamoya disease, the studies that aid in diagnosing this disorder, and the reported outcomes of surgical treatment. DESIGN: We review the manifestations of moyamoya disease in children and adults and the recent reports of the various surgical procedures. MATERIAL AND METHODS: Moyamoya disease is a chronic cerebrovascular disorder in which stenosis of the major arteries of the circle of Willis at the base of the skull progresses to occlusion. The diagnosis is based on the angiographic findings of the "puff of smoke" appearance of the abnormal capillary vessels at the base of the skull. Three surgical procedures are used to manage this disease: anastomosis of the superficial temporal artery to the middle cerebral artery, encephalomyosynangiosis, and encephaloduro-arteriosynangiosis. RESULTS: In children with this disease, cerebral ischemic events, including strokes, occur. In adults, the fragile abnormal vessels can rupture and cause intracerebral hemorrhage. The mortality rate for adults is higher than that for children. Most published reports support the efficacy of surgical treatment in children but not in adults. CONCLUSIONS: The natural history of moyamoya disease is poor; neurologic deterioration due to strokes and hemorrhage is progressive. Seizures and intellectual deterioration can occur.

Cerebral aneurysms in childhood and adolescence.

In this study, 24 aneurysms occurring in 23 patients under the age of 18 years (mean 12 years) are analyzed. The male:female ratio was 2.8:1, and the youngest patient was 3 months old. Mycotic lesions and those associated with other vascular malformations were excluded. Forty-two percent of the aneurysms were located in the posterior circulation, and 54% were giant aneurysms. Presenting symptoms included subarachnoid hemorrhage in 13 and mass effect in 11. Several of these aneurysms were documented to rapidly increase in size over a 3-month to 2-year period of observation. All aneurysms were surgically treated: direct clipping was performed in 14; trapping with bypass in four; trapping alone in four; and direct excision with end-to-end anastomosis in two. The postoperative results were excellent in 21 aneurysms (87%), good in two (8%), and poor in one. The pathogenesis of cerebral aneurysms is reviewed.

Corneal crystals, myopathy and nephropathy: a new syndrome?

A case with ocular (corneal crystals and retinal pigment epithelial mottling), muscle (oropharyngeal and hand weakness and atrophy), and renal (proteinuria and hypertension) abnormalities is described. We believe that this represents a previously unrecognized syndrome.

Not 'indifference to pain' but varieties of hereditary sensory and autonomic neuropathy.

Three children, from different kinships, with generalized insensitivity to pain, showed unusual manifestations of congenital, presumably inherited, sensory and autonomic neuropathy. The first child appeared to have a syndrome resembling those previously described as congenital indifference to pain, congenital universal loss of pain sensation from infancy without other apparent neurological deficit. Unlike most types of hereditary sensory and autonomic neuropathies (types I, II, III), but like type IV, she had normal sensory nerve action potentials. Abnormalities of sudomotor function and of somatosensory evoked potentials were demonstrated. A severe decrease in the number of sural nerve A delta fibres and a small reduction in C fibres were demonstrated morphometrically. An abnormality of C fibres was confirmed by a marked reduction in nerve dopamine-beta-hydroxylase activity. The plasma and CSF concentrations of beta endorphins, substance P and several other neuropeptides and hormones were normal. Unequivocal evidence of a neuropathic lesion is provided by this patient; her disorder may be identified as the fifth type of hereditary sensory and autonomic neuropathy. The second patient had a congenital pansensory neuropathy and progressive retinitis pigmentosa. Whether the disorder is inherited and, if so, whether the retinitis pigmentosa results from the same or from a second genetic abnormality, is unclear. The third case has, in addition to what is usually seen in hereditary sensory and autonomic neuropathy, type II, an unusually severe kinaesthetic difficulty in oral food handling. The sural nerves of the second and third patients had fibre composition characteristic of hereditary sensory and autonomic neuropathy, type II, few or no myelinated fibres and reduced numbers of unmyelinated fibres.

Cerebrovascular disease in infants and children: a study of incidence, clinical features, and survival.

A 10-year review of the Mayo Clinic experience with childhood cerebrovascular disease unrelated to birth, intracranial infection, or trauma identified 69 patients (38 with ischemic stroke, and 31 with subarachnoid or intracerebral hemorrhage). Although children with cerebral infarction had better survival, they experienced more residual disability than children with cerebral hemorrhage. The medical records-linkage system for Rochester, Minnesota residents made it possible for the first time to study cerebrovascular disease in a well-defined childhood population. Records from all medical facilities serving this population (average of 15,834 resident children) showed four strokes over 10 years (average annual incidence rate of 2.52 cases per 100,000 per year).

Intracranial arteriovenous malformations in childhood.

During the 13-year period 1964 through 1976, 37 patients less than 20 years with an intracranial, parenchymal arteriovenous fistula were seen at the Mayo Clinic. The most frequent mode of presentation was hemorrhage or seizure. Other than angiography, computed tomography with contrast enhancement was the most helpful diagnostic test. Surgery was restricted to patients with intraparenchymal hematomas, intractable seizures, or subarachnoid hemorrhage with accessible lesions and to 1 infant with a massive, sumptomatic malformation. Surgery generally was tolerated well, with reversal of most acute focal neurological deficits related to hematomas. In the nonsurgical group, follow-up revealed a fairly stable neurological status during the period of the study.

Moyamoya disease in children.

A review of the recent Mayo Clinic experience with stroke in children having cerebral angiography revealed five patients with moyamoya disease. The disease commonly presents as recurrent strokes and only rarely as a seizure disorder. The angiographic pattern suggests that the telangiectasia characteristic of this condition represents normally present dilated vessels.

Perinatal intracranial hemorrhage. Incidence and clinical features.

Birth and perinatal records from all medical facilities serving the Rochester, Minn population from 1965 through 1974 were reviewed for cases of intracranial hemorrhage. Among a total of 10,850 live births, 12 documented cases of hemorrhage were found, yielding an average rate of occurrence of 1.1/1,000 live births. To investigate the role of some 30 potential risk factors, a case-control study was undertaken. Only prematurity and respiratory distress syndrome (RDS) were significantly associated with intracranial hemorrhage. This study demonstrates that neonatal intracranial hemorrhage is relatively common, associated with prematurity and RDS, difficult to recognize clinically, and characterized by poor prognosis.

The use of computerized transaxial tomography in the diagnosis of tuberous sclerosis.

Computerized transaxial tomography is a useful test for the recognition of tuberous sclerosis when this diagnosis has not been firmly established by clinical methods. In addition, computerized transaxial tomography may demonstrate the location of obstruction in patients with tuberous sclerosis who have developed signs of increased intracranial presure. These generalizations are supported by evidence from four patients investigated by this test.

Familial hemiplegic migraine.

Ten members of one family had hemiplegic migraine. The typical attack was sterotyped from member to member. Three of the 10 members had hemiplegic migraine attacks associated with minor head trauma. One patient suffered premanent neurologic deficit. Therapy of hemiplegic mirgaine is briefly discussed.