spastic paraplegia-precocious puberty syndrome

Rare Disease

MONDO:0008443

Also Known As

familial spastic paraplegia, intellectual disability, and precocious pubertyfamilial spastic paraplegia, mental retardation, and precocious pubertyprecocious puberty with spastic paraplegiaspastic paraplegia with precocious puberty

Definition

Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression.