SACRAL syndrome is a congenital condition characterized by spinal dysraphism, anogenital, cutaneous, renal and

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anomalies, associated with an angioma of lumbosacral localization. The constellation of abnormalities comprising SACRAL syndrome was first described in 1986. The syndrome was further characterized and the term SACRAL syndrome was first used in 2007 by researchers in

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. The researchers noted that in the 49 instances of perineal hemangiomas (angiomas of lumbosacral localization) in children since 1994, 5 children had additional malformations associated with the SACRAL syndrome. Infantile hemangiomas are very common in infancy, affecting 2% of infants at birth and up to 10% at 1 year of age but they usually affect the head and face area, rarely affecting the lumbosacral area. Some abnormalities described as part of the SACRAL syndrome include lipomeylomeningocele (a fatty growth forms near the spinal cord and attaches to it preventing closure of the neural tube (spinal dysraphism)) with a

tethered cord Tethered cord syndrome (TCS) refers to a group of neurological disorders that relate to malformations of the spinal cord.imperforate anus An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is malformed. ARMs are a spectrum of different congenital anomalies which vary from fairly minor lesions to complex anomalies. The cause of ARMs is unknow ...

, lipomas under the skin, or

hypospadias Hypospadias is a common malformation in fetal development of the penis in which the urethra does not open from its usual location on the head of the penis. It is the second-most common birth defect of the male reproductive system, affecting about ...

. SACRAL syndrome has similar abnormalities to PELVIS syndrome, which was first described in 2006, and presents in babies as perineal hemangiomas, external genital malformations, lipomeningocele (neural tube defects), vesicorenal abnormalities (abnormalities of the bladder or kidneys), imperforate anus and skin tags.

Cause

The cause of SACRAL syndrome is not known. But neural tube defects in general are thought to involve genetic and environmental causes. Common causes of neural tube defects include

folic acid deficiency Folate deficiency, also known as vitamin B9 deficiency, is a low level of folate and derivatives in the body. This may result in megaloblastic anemia in which red blood cells become abnormally large, and folate deficiency anemia is the term given ...

in the mother before pregnancy, certain medications such a

valproic acid Valproate (valproic acid, VPA, sodium valproate, and valproate semisodium forms) are medications primarily used to treat epilepsy and bipolar disorder and prevent migraine headaches. They are useful for the prevention of seizures in those with ...

(commonly used in seizures or as a mood stabilizer), fever in the mother or hot tub use, and diabetes in the mother. It is unclear whether SACRAL syndrome has a genetic cause. In general, most cases of neural tube defects are sporadic, and familial cases are rare.

Prevention

Spinal dysraphism (neural tube defects) are prevented with folic acid supplementation by the mother. The US Preventitive Services Task Force recommends 0.4-0.8 grams of folic acid supplementation daily for all women of childbearing age to prevent neural tube defects. Epidemiological studies have shown that folic acid supplementation in women of childbearing age reduces the incidence of neural tube defects. But supplementation started after 6 weeks of pregnancy is not associated with a reduction in neural tube defects as neural tube formation is already complete by the 4th week of gestation. Therefore, folic acid supplementation ideally should be ongoing before pregnancy occurs.

Treatment

Neural tube defects, once formed, can be treated surgically. Post-natal surgical treatment is usually done, depending on the severity of the defect. Intra-uterine fetal surgery, done before birth, can also be done but is associated with maternal and fetal risks. Treatment of a tethered cord also requires surgical treatment.

References

{{reflist Cutaneous congenital anomalies Syndromes

Cause

Prevention

Treatment

See also

References