Major cerebral arterial and venous disease in osteopetrosis.

Abstract

Two patients with osteopetrosis were studied in whom severe stenosis of one or both internal carotid arteries was demonstrated. One patient had autosomal dominant osteopetrosis and the other patient had the autosomal recessive form of the disease. In one patient, probable occlusion of one internal jugular vein and retrograde thrombosis of the contributing dural venous sinuses was present. Venous drainage of parts of the brain occurred through dilated emissary and scalp veins. It appears that major extracranial vessels may be impinged upon by dysplastic bone in osteopetrosis, although this is the first report of such an occurrence. A posterior fossa aneurysm was present in one case, and may have been related to abnormal intracranial hemodynamics.

Cerebrovascular occlusive complications in osteopetrosis major

“…Blindness with optic atrophy can be due to narrowing of the optic canal, but other causes have been invoked Cerebrovascular complications can be hemorrhagic [2,[4][5][6] or occlusive [6]. In our case, stenosis and occlusions of the carotid arteries were similar to those reported by Makin et al [6]. These stenoses are obviously caused by narrowing of the petrous carotid canal by the osteopetrotic bone.…”

“…These stenoses are obviously caused by narrowing of the petrous carotid canal by the osteopetrotic bone. In the patients reported by Makin [6], no ischemic neurological complications were reported. In our patient the clinical image was characterized by transient ischemic neurological deficits in the cortical middle cerebral artery territory of the most affected right side.…”

“…The autosomal recessive form very soon leads to a fatal outcome due to insufficient erythropoiesis [7]. The dominant form of osteopetrosis major can be asymptomatic [6] but is characterized in the typical form by anemia, pathological fractures and osteomyelitis [7]. Neurological manifestations of osteopetrosis are frequent.…”

“…Clinical manifestations include pathological fractures, anemia and cranial nerve palsies [2][3][4][5]. Recently, occlusions of major cerebral arteries and veins were reported as a complication of the hypertrophic skeletal sclerosis but without ischemic neurological deficit [6].…”

Nonbacterial Thrombotic Endocarditis and Nondisseminated Malignancy Associated with Osteopetrosis

“…Osteopetrosis initially mislead us and the referring physician as to the possible etiology of the patient's symptoms. Impinge ment of blood vessels by the boney sclerosis was considered as a cause of the cerebral infarcts [13][14][15]. Most neurological compli cations of osteopetrosis have been explained by encasement of cranial nerves and blood vessels by the boney sclerosis.…”