Alpha-glucosidase deficiency and basilar artery aneurysm: report of a sibship.
Glycogen deposition in vascular smooth muscle has been demonstrated previously in alpha-glucosidase deficiency but has not been clinically significant. Three sons of healthy, nonconsanguineous parents developed progressive proximal muscular weakness secondary to alpha-glucosidase deficiency. Each patient developed a fusiform basilar artery aneurysm, which was complicated by fatal rupture in two patients and a cerebellar infarction in the third. Postmortem examination demonstrated severe vacuolation of skeletal muscle, liver, and vascular smooth muscle with accumulation of periodic acid-Schiff-positive, diastase-sensitive material. In the surviving brother, similar glycogen deposition was demonstrated in the smooth muscle of the superficial temporal artery. Basilar artery aneurysm formation in this sibship may be a consequence of alpha-glucosidase deficiency.
Makos
M M
MM
Department of Neurology, Creighton-Nebraska Neurology Program, Omaha.
McComb
R D
RD
Hart
M N
MN
Bennett
D R
DR
D000293:Adolescent; D000328:Adult; D001488:Basilar Artery / Q000473:pathology*; D003677:Deficiency Diseases / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D002532:Intracranial Aneurysm / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology; D008297:Male; D009132:Muscles / Q000473:pathology; D000520:alpha-Glucosidases / Q000172:deficiency* / Q000235:genetics
D000520:alpha-Glucosidases