Premium
Alpha‐glucosidase deficiency and basilar artery aneurysm: Report of a sibship
Author(s) -
Makos Mig M.,
McComb Rodney D.,
Hart Michael N.,
Bennett Donald R.
Publication year - 1987
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410220512
Subject(s) - basilar artery , medicine , aneurysm , glycogen , infarction , diastase , artery , cardiology , anatomy , endocrinology , pathology , surgery , myocardial infarction
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.