Sacral agenesis: Why is it so frequently misdiagnosed?

Borrelli, Milton; Spinola, Ricardo; Bruschini, Homero; Walligora, Mirian; Nahas, William Carlos; Freire, Geraldo de Campos; Figueiredo, Jose Alaor; Góes, Gilberto Menezes de; Prado, M. J. B. A.

doi:10.1016/0090-4295(85)90182-7

Cited by 16 publications

(23 citation statements)

References 14 publications

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“…This condition is a cen tral component in the spectrum of anomalies comprising the caudal regression syndrome. These congenital anom alies frequently associate with other orthopedic deformi ties, as well as urological, neurological and anorectal malformations [6][7][8], Delay in diagnosis has been re ported because of subtlety of the defect, and the urolog ical consequences as a result of damage by vesicoureteral reflux (VUR), hydronephrosis and urinary tract infec tion can be severe and irreversible [6]. In the past, sacral agenesis was thought to be a form of bony malformation associated with static neurological deficits.…”

Section: Introductionmentioning

confidence: 99%

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Diagnosis and Management of Sacral Agenesis

Gotoh¹,

Shinno²,

Kobayashi³

et al. 1991

Eur Urol

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Section: Introductionmentioning

confidence: 99%

“…Sacral agenesis is a rare congenital anomaly of the lower vertebral column which usually produces neuro genic bladder dysfunction [1][2][3][4][5][6]. This condition is a cen tral component in the spectrum of anomalies comprising the caudal regression syndrome.…”

Section: Introductionmentioning

confidence: 99%

Diagnosis and Management of Sacral Agenesis

Gotoh¹,

Shinno²,

Kobayashi³

et al. 1991

Eur Urol

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“…As a result, poor anal sphincter tone is frequently noted instead of perianal anesthesia. Again, on the other hand a delay in diagnosis has been reported because of the subtelty of the defect, and the urological consequences as a result of damage by vesicoureteral reflux, hydronephrosis and urinary tract infection can be severe and irreversible [7,8,14].…”

Section: Discussionmentioning

confidence: 99%

Sacral Agenesis in Siblings

Sarıca¹,

Pinar²,

Sarica³

et al. 1998

Urol Int

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Sacral agenesis is a rare congenital abnormality of the lower vertebral column which is fequently associated with neurological, orthopedic as well as urological malformations. With regard to the incidence of the anomaly, although approximately 200 cases have been reported previously, the occurrence of sacral agenesis in siblings has only rarely been found. To date only two pairs of siblings have been reported. Herein we present 2 siblings with partial sacral agenesis and emphasize the need for a careful family investigation, early diagnosis and appropriate treatment.

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“…Orthopedic and neuromuscular abnor malities, as well as neurogenic bowel and/or bladder dys function, are evident in the majority of cases [1,4,5,17,19,22,30,[34][35][36][37][38][39][40][41], Ten (37%) of the patients in our series had severe multisystem congenital deformities including imperforate anus in 7 and severe craniofacial deformities in 3 patients. Seven (70%) of the patients with severe mul tisystem anomalies had asymmetrical sacral lesions, or sacral dysgenesis.…”

Section: Discussionmentioning

confidence: 99%

Agenesis and Dysgenesis of the Sacrum: Neurosurgical Implications

O'Neill¹,

Piatt²,

Mitchell³

et al. 1995

Pediatr Neurosurg

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We reviewed 27 patients with congenital anomalies of the sacral spine. There were 16 males and 11 females with a mean follow-up of 81.1 months (range 8–211 months). Fifteen patients had sacral agenesis and 12 had sacral dysgenesis. Fifteen patients had neuroimaging of the spine. Seven patients had conus termination below the L2 vertebral body. Four patients had associated thoracic syringomyelia and 6 patients were identified with caudal or dorsal lipoma. There were only two episodes of neurological deterioration, both in a single patient who had a lipomyelomeningocele, in 182 patient-years of follow-up. Four patients with low lying conus had preemptive spinal cord exploration for release of tethering in order to prevent neurological deterioration. Patients with agenesis or dysgenesis of the sacrum should undergo magnetic resonance (MR) imaging of the spine in order to detect spinal cord lesions associated with progressive neurological deterioration. Findings on MR imaging are more likely to correlate with clinical course than findings on skeletal radiography.

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Sacral agenesis: Why is it so frequently misdiagnosed?

Cited by 16 publications

References 14 publications

Diagnosis and Management of Sacral Agenesis

Diagnosis and Management of Sacral Agenesis

Sacral Agenesis in Siblings

Agenesis and Dysgenesis of the Sacrum: Neurosurgical Implications

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