Caudal Regression Syndrome

Caudal Regression Syndrome (CRS

Introduction

Caudal Regression is a rare , congenital , neural tube defect of the lower spinal segments and neural tube . It is characterized by an array of developmental abnormalities of the caudal spine with associated abnormalities of soft tissue . Neurological situations associated with CRS can range from a slight deformity of the feet to extensive senory and motor deficits of the lower limbs (Kacinski et al , 2007 ) CRS involves a midline closure defect of the neural tube characterized by complete of partial absence of sacrum , coccyx and lower vertebrae

(Fukushima et al , 1999 ) It is a continuum of varying congenital spinal malformations that vary . CRS may also involve major anomalies in the viscera

It is not clear as to whether CRS and sirenomelia are different extremes of the same disease or different diseases . There is evidence that sirenomelia and CRS are different although sirenomelia may represent the most severe end of CRS (Valenzano et al , 1999 ) Although CRS and sirenomelia may be different diseases , they appear to be related . Sirenomelia is thought to result from a vascular aberration that leads to a "vitelline artery steal (Stevenson et al , 1986 ) while CRS is considered a heterogenous dis from sirenomelia with respect to etiology and pathology (Jones , 1997 ) The relationship between the two medical situations is unclear . Some feel that sirenomelia is the most severe example of CRS (Valenzano et al , 1999

CRS represents a continuum of congenital malformations ranging from agenesis resulting in the absence of a few coccygeal segments at the end of the spine to lumbosacral agenesis to more extensive forms of CRS called sirenomelia , also called "Mermaid Syndrome , a congenital anomaly where the lower extremities may be fused (Yegin et al , 2005 and major visceral anomalies (Pang , 1993 . It may occur with no apparent symptoms such as when the tailbone is missing at the end of the spine , or involve a wide and extensive array of abnormalities of the lower vertebrae , pelvis and spine . More involved cases include gastrointestinal , respiratory , cardiac (tetralogy of Fallot ) and extensive neurological deficits leading to death (Cama et al , 1996 Adra et al , 1994 ) although CRS does not generally lead to death . It is also referred to as caudal regression syndrome , caudal dysplasia syndrome or Sequence , sacral regression and sacral agenesis . CRS often involves abnormalities in the genitourinary tract and the anorectal tract (Tsugu , et al . 1999 ) and may involve genetic factors as well particularly in diabetic pregnancies (Chan et al , 2002 Versiani et al , 2004 . Chan et al . report that 1 of infants born to diabetic mothers have a genetic defect . The syndrome is 200 to 250 times more frequent in infants of diabetic mothers than in the general population as a whole (Jaffe , Zeituni and Fejgin , 1991 , but CRS is not specific to diabetes . Rather , gestational diabetes is considered to be a teratological factor (Versiani et al , 2004 ) Rare cerebral malformations such as agenesis of the corpus callosum , holoprosencephaly and arhinocephaly (all referring to regions of the brain that...