Paine Syndrome

Clinical Features

Paine (1960) described affected members of a French Canadian family with myoclonic fits and elevated levels of amino acids in the spinal fluid with inversion of the usual ratio of plasma level to spinal fluid level. Autopsy in 1 case showed an apparent developmental malformation (hypoplasia of the cerebellum, inferior olives and pons), supporting the view that this entity is distinct from the X-linked forms of diffuse sclerosis (300100, 302700, 312080) and from hydrocephalus due to stenosis of the aqueduct of Sylvius (307000) which is sometimes accompanied by spastic paraplegia and microcephaly after arrest of the hydrocephalus. Subsequent studies failed to substantiate the amino acid changes (Efron, 1966).

Seemanova et al. (1973) reported a kindred with 2 affected males in each of 3 sibships connected through carrier females. Abdominal reflexes were absent in these cases. The level of amino acids in the cerebrospinal fluid was normal. The disorder may be the same as that reported by Paine (1960). However, hypoplasia of the cerebellum, pons and inferior olive was not found. Opitz and Sutherland (1984) suggested that 'Seemanova syndrome' is distinct from Paine syndrome.

Inheritance

In the French Canadian family described by Paine (1960), the pattern of transmission of the disorder was consistent with X-linked inheritance.

The pattern of transmission of the disorder in the family described by Seemanova et al. (1973) was also consistent with X-linked inheritance.