LUMBOSACRAL AGENESIS

Carlos Cuevas, M.D., Pediatric Orthopaedic Research Fellow

August 23, 1995

CLINICAL CASE PRESENTATION

ORTHOPAEDIC DEPARTMENT

THE ALFRED I. DUPONT INSTITUTE

WILMINGTON, DELAWARE

Lumbosacral agenesis is an uncommon condition characterized by absence of different segments of lumbar spine along with total or partial absence of the sacrum. The motor level can be correlated with the lowest vertebra with pedicles, but sensory level could be above or below, and sometimes asymmetric. Most the time, they have no bladder or bowel control.

ETIOLOGY:
CLINICAL FINDINGS:

Appearance:

Patient with multiple abnormalities with short trunk correlated with the degree of lumbar agenesis; marked atrophy of the buttocks showing gluteal dimples with short intergluteal fold, and horizontal anus. Characteristically severe atrophy of the lower limbs with an appearance similar to that of distal arthrogryposis; the lower extremities are in flexion, abduction, and external rotation contracture at the level of the hips, and usually there is a severe flexion contracture of the knees giving the classic Buddha-like position often described. However, the appearance of the patient is directly correlated with the degree of lumbosacral spinal involvement.

GENERAL FINDINGS:

SPINE FINDINGS:

LOWER EXTREMITIES:

CLASSIFICATION:

Renshaw (1978) classified sacral agenesis in four types:

TREATMENT:

Extensive investigation of the whole spine; the genitourinary, cardiovascular, and gastrointestinal tracts should be done in the initial approach of patients with lumbosacral agenesis.

Three major trends of management have been described:

HIP:

KNEE:

FOOT:

REFERENCE:

1. Andrish J., Kalamchi A, MacEwen, G.D. Sacral Agenesis: A Clinical Evaluation of the Management, heredity and associated anomalies. Clin. Orthop. 139:52-57,1979

2. Banta J.V., Nichols O. Sacral Agenesis. J. Bone Joint Surg. 51:693-703,1969

3. Dumont C.E., Damsin J.P., Forlin E., Carlioz H. Lumbosacral Agenesis. Spine 18:1229-1235,1993

4. Renshaw T.S. Sacral Agenesis. The Pediatric Spine - Principles and Practice. 1:2214,1994,

Raven Press, New York

5. Phillips W.A. Sacral Agenesis. Spine - Principles and Practice. 1:2214,1994, Raven Press, New York

6. Jay Kumar S. Personal Communication. July 1995

7. Phillips W.A., Cooperman D.R., Linquist R.C., Sullivan R.C., Millar E.A. Orthopaedic Management of Lumbosacral Agenesis. Long Term Follow Up. J. Bone Joint Surg. 64A:1282-1294,1982