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sacral defect with anterior meningocele

MIM.600145

Thursday 9 February 2006

Definition: Herniation of the meningeal sac into the extraperitoneal pelvic region through a congenital defect in the sacrum. Sacral defect with anterior meningocele (SDAM) is a type of caudal dysgenesis. The inheritance is autosomal dominant.

SDAM is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, rectal fistula and abscess, or meningitis.

The herniated sac is composed of two layers: the outer dural sac, and the inner arachnoid membrane. The sac contains cerebro-spinal fluid with no neural elements. It also called Type 1 extradural meningeal cyst (Occult sacral meningocele) according to Nabors M.C et. al’s classification.

Epidemiology

Anterior sacral meningocele involve mostly females with reported incidence of 79%. It represents 2.8% of all presacral tumors in females.

Genetics

The genetic inheritance pattern has not been ascertained. An X-linked dominant pattern was proposed. In most cases with family recurrence, autosomal dominant transmission is suggested.

The cytogenetic defect site was reported to be linked to the HLA in a location, 7q36, which also contain a gene for holoprosencephaly. However, Chatkupt et al. could not confirm the HLA region as the location for the sacral defect anterior meningocele in members of five generation family with this disorder.

Etiology

- sacral bone defect

- proliferation of arachnoid

- connective tissue diseases

  • Marfan disease

- ischemic lesion

- Trauma

  • nerve root avulsion or hemorrhage

- Iatrogenic

  • surgery

Differential diagnosis: presacral cysts

- Sacrococcygeal Teratoma
- Persistent cloaca
- presacral tumors

  • presacral dermoid cyst
  • presacral lipoma
  • presacral neuroblastoma

- presacrla meuroectodermal cyst
- sacral meningeal cyst

  • extradural cyst without spinal nerve root fibers
  • presacral meningeal cyst / presacral arachnoid cyst
  • occult Sacral Meningocele.
  • extradural cyst with spinal nerve root fibers
  • perineural cyst (Tarlov cst)
  • spinal nerve root diverticulum
  • intradural cyst (intradural arachnoid cyst)
    - combination of anterior sacral meningocele , perineural cyst and intrasacral meningeal cyst

- gastro intestinal tract:

  • rectal dilatation
    • anorectal atresia
    • Hirschprung Disease
    • meconium plug syndrome

- digestive duplication
- meconium pseudocyst
- ovarian cyst
- renal cyst in pelvic kidney

Associations

- Currarino syndrome

See also

- meningocele
- myelomeningocele

References

- Andersen C and Tange M. Anterior sacral meningocele. case report. 1990, Acta Chir. Scand. 156; 808 – 811.

- Nabors M.C et. al Update assessment and current classification of spinal meningeal cysts. 1988, J. Neurosurg. 68; 366 - 377.

- Hagelstone J. H. et.al disability in children with myelomeningocele. A nordic study. 1989, Acta Pediatr. Scand. 78; 721 – 727.

- Nyberg DA, Mack. LA, Langer JC. The spine and neural tube defects In Nyberg DA, Mahony BS, Pretorius DH (ed) Diagnostic Ultrasound of Fetal Anomalies : text and atlas, 1990, pp. 182-187 (St. Louis Mosby Year Book).

- Brinker M.R et.al. Myelomeningocele at at the sacral level. Long term outcomes in adults. 1994, J. Bone and Joint surg. 76-A ; 1293 – 1300.

- Kofinas AD et.al.. Anterior sacral meningocele in pregnancy. 1987, Obstet. Gynecol. 69 : 441- 4.

- Lee R.A and Symmonds R.E Presacral tumors in the female : Clinical presentation, surgical management, and results. 1988, Obstet. Gynecol. 71 ; 216 – 220.

- Cohn J and Bay – Nielsen E : Heredity defects of of the sacrum and coccyx with anterior sacral meningocele. 1969, Acta Pediatr. Scand. 58 ; 268 – 274.

- Welch JP and Alterman K. The syndrome of caudal dysplasia : A review, including etiologic considerations and evidence of heterogeneity.1984, Pediatr. Pathol. 2 ; 313 - 327.

- Hardwick R. J. et.al. Partial sacral agenesis with constipation : a report of one family. 1992, J. Paediatr. Child Health ; 28: 328 – 30.

- Lynch SA et.al. A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. 1995, Nature Genetics, 11 : 93 - 95 (letter).

- S. Chatkupt et. al.. Linkage analysis of a candidate locus (HLA) in autosomal domonant sacral defect with anterior meningocele. 1994, Am. J. Med, Genet. 52: 1 - 4.

- North R.B et.al. Occult, bilateral anterior sacral and intrasacral meningeal and perineurial cysts : Case report and review of the literature. 1990, Neurosurgery; 27 : 981 – 986.

- McCreath G. T. and Macpherson P. Sonography int diagnosis and management of anterior sacral meningocele. 1980, J. Clin. Ultrasound 8 ; 133 – 137.

- Raftopoulos M.D et.al. Endoscopic cure of giant sacral meningoceleassociated with Marfan’s Syndrome : Case report. 1992, Neurosurgery 30 ; 765 – 768.

- Tarlov I. M. Spinal perineurial and meningeal cysts. 1970, J. Neurol. Neurosurg. Pshychiatry 33 ; 833.

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- Fitzpatrick M.O and Taylor W.S Anterior sacral meningocele associated with rectal fistula. case report and review of the literature. 1999, J Neurosurg (Spine 1) 91 ; 124 – 127.

- Pantoja E et. al. Retroperitoneal teratoma :historical review. 1976, J. Urol. 115; 520 - 523.

- Altman RP et. al. Sacrococcygeal Teratoma : American Academy of 1973, Pediatrics Surgical Section Survey. J. Pediatr. Surg. 389 -398.

- Brem H. et.al. Neonatal diagnosis of a presacral mass in the presence of congenital anal stenosis and partial sacral agenesis. 1989, J. Pediatr. Surg. 10 ; 1076 - 1078.

- BloechleM et.al. Neuroectodermal cyst may be a rare differential diagnosis of fetal sacrococcygeal teratoma : first case report onf prenatally observed neuroectodermal cyst. 1996, Ultrasound Obstet. Gynecol., 7 ; 64 - 67.

- Kochling J et.al. The Currarino syndrome - Hereditary transmitted syndrome of anorectal, sacral, and presacral anomalies. Case report and review of the literature. 1996, Eur.J.Pediatr.Surg. 6 ; 114 -119.

- Welch J P and Alterman K The syndrome of caudal dysplasia : a review, including etyologic considerations and evidence of heterogeneity 1984, Pediatr Pathol. 2 ; 313 – 327.

- Somuncu S. Ariturk E. Iyigun O. Bernay F. Rizalar R. Gunaydin M. and Gurses N. (1997) A case of anterior sacral meningocele totally excised using the posterior sagittal approach. J. Pediatr. Surg. 32; 730 - 732.

- Clatterbuck RE et.al. Laparoscopic treatment of anterior sacral menigocele. Case illustration. 2000, J. Neurosurg. (spine 2) 92 ; 246.

- Amacher Al et.al. anterior sacral meningocele. 1968 surg. Gynecol. Obstet. 126 ; 986 – 994.

- Pyeritz RE et.al. Dural ectasia is a common feature of the Marfan Syndrome. 1988, Am. J. Hum. Genet. 43 ;726 – 732.

- Lee SC et.al. Currarino Triade : Anorectal malformation, sacral bony abnormalities, and presacral mass – a review of 11 cases. 1997, J. Pediatr. Surg. 32 ; 58 –61.

- Dias MS and Azizkhan RG. A novel embryogenetic mechanism for Currarino’s triade : Inadequate dorsoventral separation of the caudal eminence from huntgut endoderm 1998, Pediatr. Neurosurg. 28 ; 223 –229.