Bruyn-Scheltens Syndrome

A variant of hereditary spastic paraparesis characterized by spasticity, amyotrophy of the extremities, and urinary malformations.

Silver Syndrome; Silver Spastic Paraplegia Syndrome; Spastic Paraparesis with Amyotrophy of Hands and Feet.

Approximately 12 affected families have been described in the literature.

Autosomal dominant, although autosomal recessive transmission has been suggested for some cases. The genetic defect has been mapped to 11q12-q14.

Unknown.

Made based on the family history and the clinical findings of gait disturbances with spastic paraparesis of the legs, and severe amyotrophy of the small hand muscles.

The age at the onset of symptoms is very variable (first to seventh decade of life). Gait disturbances are the predominant and often first sign of the disorder. Foot deformities (pes cavus) with hyperreflexia of the leg and positive Babinski sign may develop during the course of the disease. Amyotrophy of the intrinsic hand muscles with marked muscle weakness and wasting can occur unior bilaterally and mainly affects the thenar and dorsalis interosseus l muscles. (Rarely, it may also involve the feet). Generally, sensation is preserved, except for an occasionally mild reduction in vibration sense in the lower limbs in older patients. Neurophysiological studies favor anterior horn cell or motor nerve root involvement rather than a generalized neuropathy. In particular, no evidence of concurrent median or ulnar neuropathy could be found. However, median motor nerve conduction velocities may be mildly reduced. Other features may include urinary urgency, urinary incontinence and sphincter disturbances. In patients with the autosomal recessive inherited type of this disorder, amyotrophy often begins in the first decade of life and spasticity dominates over paraparesis. Severe muscle wasting of the thenar and hypothenar muscles may often coexist with amyotrophy below the level of the knees and pes cavus deformity.

Evaluate neurologic status (clinically, full history, electromyography) and degree of muscle wasting.

Careful intraoperative positioning and padding is needed. Regional anesthesia is not contraindicated, but requires clear explanations should be given to the patient and family.

Muscle relaxants are not contraindicated but weakness can be misinterpreted at end of procedure. Succinylcholine is probably best avoided due to neuropathy and amyotrophy.

Antinolo Nieto Borrego Syndrome: Autosomal dominant inherited disorder with skin hypoplasia and demyelinating peripheral neuropathy. Regional anesthesia should probably be avoided (primarily for medico-legal purposes).

Abdallat Davis Farrage Syndrome (Synonyms: Neurocutaneous Syndrome Abdallat Type; Spastic Paraplegia with Pigmentary Abnormalities): Disorder characterized by albinism, patchy skin pigmentation and insensitivity to pain that must be considered in postoperative care.

Bahemuka Brown Syndrome (Synonym: Spastic Paraplegia with Facial Cutaneous Lesions): Autosomal recessive inherited disorder with spastic paraplegia and irregular (decreased or increased) skin pigmentation.