A very rare syndrome combining mental retardation and
early spastic diplegia.
Incidence is unknown. Autosomal
Affected patient presents with spastic diplegia
in early infancy. Motor development is slow and there is generalized
muscular hypotonia and hyperreflexia. Ataxia is usually absent but gait is
often waddling with inward-turning feet. There is mild to moderate mental
retardation with slow speech development. Long-term followup has not been
Assess gait and motor function. Obtain
history of previous anesthetics and muscle biopsy result if available.
Biochemistry including potassium and creatine phosphokinase level. Careful
intraoperative positioning is needed.
Gustavson K, Modrzewska K, Erikson A: Hereditary spastic diplegia with
mental retardation in two young siblings. Clin Genet