Sacral Agenesis Occurring in Siblings

Muthukumar, Natarajan; Gurunathan, J; Sampathkumar, M.; Gajendran, R

doi:10.1097/00006123-199206000-00026

Neurosurgery

1992

DOI: 10.1097/00006123-199206000-00026

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Sacral Agenesis Occurring in Siblings

Natarajan Muthukumar

J Gurunathan

M. Sampathkumar

et al.

Abstract: We report a rare incidence of sacral agenesis occurring in siblings. One of our patients had a low-lying conus, and untethering of the cord in the area of the filum terminale led to improvement in urinary symptoms. The need for aggressive investigation of patients with sacral agenesis and static neurological deficits is discussed.

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“…The incidence of this pathology ranges from 0.05 to 0.1% and approximately 200 cases have been reported in the world literature [2][3][4]. However, the occurrence of sacral agenesis in siblings has been reported to be extremely rare, and to our knowledge only 2 such reports have been made previously [5,6].Defective development of the second to fourth sacral nerve roots leads to a neuropathic bladder. Taking the variable nature of this defective development into account, bladder function can be subtle.…”

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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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mentioning

confidence: 99%

Sacral Agenesis in Siblings

Sarıca¹,

Pinar²,

Sarica³

et al. 1998

Urol Int

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Sacral agenesis: A case report with pathogenetic consideration

Hori

1997

Neuropathology

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A boy, born to a diabetic mother, showed external as well as internal malformations, such as cleft palate, deformation of the lower extremities, absence of the left kidney and contralateral compensatory hypertrophy, hydronephron and hydroureter. He died due to sepsis at the age of 2-months. At necropsy, the 0s sacrum was completely absent.The spinal canal was closed by osseous tissue at the level of the lowest lumbar vertebra. There was neither dorsal nor ventral dysraphism. The spinal cord segments were identifiable up to the L4/5 level and further spinal nerve roots formed the cauda equina. A duplication of the filum terminale was found that attached the cord to the bottom of the spinal canal. The caudal spinal cord was deformed, destructured and accompanied by astrocytic gliosis. The variety of the defect of lower spinal segments described in the literature (some cases included thoracic levels) and the existence of the fdum terminale in our case suggest that the spinal cord anomaly in sacral agenesis is neither a primary partial neural tube agenesis during the embryonal canalization phase nor is it an 'atrophy during ontogeny' (due to the 'no target-no development principle'), but is rather a destruction or due to other extraneural causes. In this context, a role of maternal diabetes may etiopathogenetically be speculated.

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Sacral Agenesis Occurring in Siblings

Cited by 2 publications

References 1 publication

Sacral Agenesis in Siblings

Sacral Agenesis in Siblings

Sacral agenesis: A case report with pathogenetic consideration

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