Lumbosacral
Agenesis/ Caudal Regression Syndrome
Dr. HIMA PENDHARKAR,Dr. (Mrs.) P.
S. PENDHARKAR, Prof. & Head,Dr. (Mrs.) B. D. SONAWANE, Asso. Prof.
Dr. S. Z. SORTE, Asso. Prof.,Dr. R. R. KHANDELWAL, Hon. Asso. Prof.,Dr.
SURESH PHATAK, Hon. Asso. Prof.
Dr. DHANASHREE DANDE, Asst. Lect. DEPT. OF RADIOLOGY, INDIRA GANDHI MEDICAL
COLLEGE, NAGPUR.
A Case Report
A male child born of a 25 yr diabetic mother, (not a
booked case ) , was referred for radiological evaluation.
On examination, there was a hump in the lumbar region with bilateral
gluteal dimples. Anal opening was abnormally high posteriorly.
There was hyperextension of knee joints with bilateral club
foot . There was significant wasting of both lower
limbs .
On ultrasound, both the kidneys & bladder were normal.
Craniosonogram revealed no hydrocephalus.
X-Ray
FILM1
FILM2
X-ray revealed absence of lower lumbar vertebrae with upturned
and deformed upper lumbar vertebrae.
Sacrum was completely absent with apposition of both iliac blades with
a midline cleft between them.
Diagnosis of lumbosacral agenesis was made.
DISCUSSION
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. Most of
the time, they have no bladder or bowel control.
Etiology:
Unknown
associated with maternal insulin-dependent diabetes (16% - 50%) .
failure of provocative mechanisms during early embryonic differentiation.
Freedman's theory (1950).
inductive and formative influence of the spinal cord upon the vertebral
column. Detwiler's theory (1954).
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 is seen ,which are in flexion,
abduction, and external rotation contracture. However, the appearance of
the patient is directly correlated with the degree of lumbosacral spinal
involvement.
GENERAL FINDINGS:
hydrocephalus: frequent when associated with myelomeningocele
(occurs in 30-40%).
urinary tract: horseshoe kidney, solitary kidney, reflux and no bladder
control are common.
inguinal hernia, imperforate anus, rectovaginal fistula, anal malformation,
Crohn's disease, no bowel control .
heart abnormalities are not common, but have been described
SPINE FINDINGS:
cervical spine is uncommonly involved. Multiple vertebral fusions, C2-C3
fusion, odontoid abnormalities, odontoid absence, and ball and socket occipito-atlanto
joint with or without instability.
segmentation or formation defects are common findings in vertebrae
and ribs of patients with sacral agenesis
scoliosis is better correlated with the presence of thoracic or thoracolumbar
vertebral abnormalities (i.e. hemivertebra) than the lumbosacral defect
.
kyphosis is a common finding, it is correlated with high level lumbosacral
agenesis and spino-pelvic instability.
LOWER EXTREMITIES:
frequently, hips have a flexion, abduction and external rotation contracture.
commonly, the knees have a flexion contracture, and sometimes this
is severe ,but in our case,the knees were hyperextended .
feet: plano-valgus, calcaneo-valgus, vertical tali, and tarsal and
metatarsal synostosis.
Spectrum of caudal regression (Renshaw-1978) :
Type I: total or partial unilateral sacral agenesis.
Type II: variable lumbar and total sacral agenesis with the ilia articulating
with the sides of the lowest vertebra.
Type III: variable lumbar and a total sacral agenesis, the caudal end-plate
of the lowest vertebra resting above either fused ilia or an iliac amphiarthrosis.
Type IV : with increasing severity, soft tissues of both the lower
limbs are fused. They have two femora and two tibiae with a single central
fibula between the two tibiae.
Type V : is also known as "serinomelia" or "mermaid syndrome"
wherein there is a single femur and tibia.
REFERENCES:
1. Renshaw T.S. Sacral Agenesis. The Pediatric Spine - Principles and
Practice. 1:2214,1994,
Raven Press, New York
2. Phillips W.A. Sacral Agenesis. Spine - Principles and Practice.
1:2214,1994, Raven Press, New York
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