APSP J Case Rep Vol. 1 (1) Jan-Jun, 2010
LETTER TO THE EDITOR
APSP J Case Rep 2010; Vol. 1 (1)
Overlapping Features of Caudal Regression Syndrome and VACTERL
Complex in a Neonate
Ijaz,* Afzal Sheikh
Paediatric Surgery, The Children's Hospital & The Institute of Child Health
*Corresponding Author's E-mail address:
APSP J Case Rep 2010; 1: 10
How to cite Ijaz L, Sheikh A. Overlapping features of caudal regression
syndrome and VACTERL complex in a neonate. APSP J Case Rep 2010; 1:
regression syndrome (CRS) is characterized by a group of heterogeneous anomalies
involving the distal spinal cord and vertebral column, genitourinary system,
hind gut and limbs. The malformation may range from minor anomalies of spine and
spinal cord to the extreme, the sirenomelia. Various authors pointed out an
overlap of spectrum of anomalies in CRS and VACTERL (vertebral, anorectal,
cardiac, tracheo-esophageal, renal and limb anomalies) complex.1-3 A
case of a neonate is presented in whom the spectrum of congenital anomalies
overlapped between CRS and VACTERL complex.
A 1-day-old male neonate
weighing 2.8 kg presented to the emergency room of our institution with
imperforate anus and absent left lower limb. The baby was a product of
consanguineous marriage. The newborn was vitally stable and examination revealed
imperforate anus, left lower amelia, sacral agenesis, megameatus intact prepuce,
left sided undescended testis (UDT) and a small tag of tissue in place of the
absent limb [Image].
Patient was admitted and routine neonatal care
provided. Baby was subjected to various investigations. X-ray invertogram
revealed high gas shadow in abdomen and sacral agenesis. Ultrasonography of the
abdomen showed absent left kidney. Parents were counseled about the condition
and a sigmoid loop colostomy performed for imperforate anus and discharged after
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CRS is a heterogeneous group of anomalies that may involve distal
spine, spinal cord, genitourinary system, hind gut, and limbs; whereas,
existence of VACTERL complex in a patient is considered where at least three of
six anomalies of this complex are present. 1-3
have reviewed more than 150 patients of sirenomelia and depicted at least three
out of six anomalies of VACTERL complex in more than 98% of the
Shah et al1, in 2006, reported a case of sirenomelia
associated with esophageal atresia and tracheo-esophageal fistula. 1,4,5
Our patient had four out of six anomalies of VACTERL complex and also
fulfilled the criteria of caudal regression syndrome.
appears that caudal regression syndrome and VACTERL complex may be the same
spectrum of anomalies that coexist in various combinations. As an overlap
of the anomalies encountered, the use of the term caudal regression syndrome may
be reserved for those cases having only caudal spinal and spinal cord anomalies,
an event in isolation too rare, without multiple anomalies that usually overlap
with the VACTERL complex. Moreover, it appears that both multi-anomaly-CRS and
VACTERL anomalies may have similar etiological factors, a point that can be
debated as more of such cases are
1. Shah DS, Tomar G, Preetkiran. Sirenomelia.
Indian J Radiol Imaging 2006; 16:203-4.
2. Fayyaz A, Ilyas M, Iqbal O.
Pre-natal diagnosis of caudal regression syndrome. J Coll Physicians Surg Pak
2007; 17: 425-6.
3. Taori KB, Mitra K, Ghonga NP, Gandhi RO, Mammen T,
Sahu J. Sirenomelia sequence (mermaid): Report of three cases. Indian J Radiol
Imaging 2002; 12:399-401.
4. Duncan PA, Shapiro LR, Klein RM.
Sacrococcygeal dysgenesis association. Am J Med Genet 1991; 41:
5. Stocker JT, Heifetz SA. Sirenomelia: a morphological study of
33 cases and review of the literature. Perspect Pediatr Pathol 1987; 10: