|[ldquo]|STIFF-BABY-LIKE|[rdquo]| SYNDROME WITH SEVERELY DIMINISHED GABA IN CSF - A DEFECT OF GLUTAMIC ACID DECARBOXYLASE|[quest]|

摘要

The dominantly inherited stiff-baby syndrome is characterized by marked muscle rigidity from birth. The symptoms ameliorate with time. The long-term outcome is good. Clinically similar is the stiff-man syndrome, which occurs sporadically in adults and is caused by autoimmune antibodies against glutamic acid decarboxylase in the majority of patients.A baby girl, born to consanguineous healthy parents, presented with permanent muscle stiffness, fixed stare, flexion of forearms and legs, closed fists and myoclonic jerks heightened by the slightest physical stimulus The child did not respond to sounds. Rigidity did not decrease over time Neurophysiological investigations revealed sensory deafness and severely disturbed peripheral sensory pathways. Neuroradiological investigations including NMR were unremarkable. Investigations lor neurometabolic disorders in urine, plasma and CSF repeatedly revealed severely diminished levels of free GABA in CSF (0 to 3, controls 30-140 nmol/l) as the only abnormality. Antibodies against glutamic acid decarboxylase were not detectable (Dr. Küpsch, Munich, FRG). Different neuopharmacological attempts to reduce hypertonia by potentiating GABA transmission had no effect. Spells of hypoxia occured; and the child died at the age of 8 months. We propose that this child suffered from a recessively inherited defect of glutamic acid decarboxylase. Appropriate molecular studies are in progress.