Biomedical subjects
Publications and source records attributed to L M Smit.
A case of congenital multiple angiomatosis with cerebral involvement is presented. Postmortem investigation showed identical angiomas on skin and brain. The cerebral vascular tumor has caused altered vascularization of the hemisphere, resulting in a development arrest of the corpus callosum and a fetal appearance of the parietal and temporal vessels.
Decreased fetal movements may cause arthrogryposis multiplex congenita. Several distinct neuromuscular disorders may cause this syndrome, but congenital myasthenia has not previously been considered to be a possible cause. The authors report a case of congenital myasthenia gravis leading to arthrogryposis congenita.
A case of nonautoimmune, prenatal-onset, congenital myasthenia with congenital contractures including camptodactyly is presented. The clinical features re identical to those in three previously reported cases. In this form of congenital myasthenia, the muscle weakness and congenital contractures may resolve completely after conservative treatment, including anticholinesterase medication. Diagnosis can be made by the characteristic clinical history, neurological assessment, and electromyography with repetitive nerve stimulation.