We report the first clinical case of a term infant with findings suggestive of lumbocostovertebral syndrome and VACTERL association. Renal agenesis was suspected by prenatal ultrasound, and at birth clinical findings included a large abdominal wall hernia, imperforate anus, vestibular fistula, absent right rib, vertebral anomalies, tethered cord, syringomyelia, and two small sacral dimples.
Lumbocostovertebral syndrome is a rare clinical condition. Anomalies associated with the condition include involvement with the ribs, trunk and abdominal musculature, and vertebral bodies. VACTERL is a well-known association syndrome with anomalies involving the vertebral bodies, anus, heart, trachea and or esophagus, kidneys and limbs. We report a case of an infant with anomalies consistent with both associations.
A female infant was born to a 31-year-old G4P3T3 at 37 weeks gestational age. Family history was negative for birth defects, genetic disease or consanguinity. Prenatal sonogram 1 week before delivery was suggestive of right renal agenesis and lower spine defects. Other prenatal labs were normal. Labor was spontaneous and uncomplicated. The infant weighed 2828 g and was appropriate for gestational age. At birth she had a large, 10-cm fluctuant mass in her right flank (Figure 1). She was admitted to the NICU shortly after birth for evaluation and management.
Upon physical examination, the infant was active and alert. She had symmetric movements and normal tone of all extremities. She had two small lumbosacral dimples lateral to midline approximately 1 cm in size with a 3 cm tuft of hair next to them. The anus was anteriorly displaced and appeared to be patent on initial examination; however, upon closer examination, the anus was imperforate and she was stooling through a rectovestibular fistula.
X-rays and MRI of the lumbosacral spine were obtained (Figure 2) and showed extensive, complex segmentation abnormalities, most prominent between T5-T12. Abnormalities included hemivertebrae, butterfly vertebrae, fused ribs, blocked and absent body ossification centers with fused and unfused pedicle centers. The eleventh and twelth right ribs were displaced downward and the eighth and ninth ribs were displaced upward. The intervening right rib was extremely hypoplastic or absent. There was a large mass protruding from the right side of the body. Its contents were consistent with liver and bowel. The heart appeared enlarged.
Spine ultrasound showed tethered cord with multiple syrinxes and multiple segmentation abnormalities. Abdominal ultrasound showed absent right kidney with compensatory hypertrophy of the left kidney. Upper gastrointestinal series was obtained and showed no tracheo-esophageal fistula. Echocardiogram showed patent ductus arteriosus and patent foramen ovale. DNA microanalysis was not performed, however, high-resolution chromosomal analysis was obtained and showed normal female karyotype.
Before discharge she underwent a diverting colostomy with mucous fistula with a plan for anoplasty and reanastomis to occur before 6 months of age. Neurosurgery, orthopedic, cardiology, nephrology, neurology and genetics consults were obtained and appropriate follow-up was scheduled before discharge.
The lumbocostovertebral syndrome is a rare clinical association syndrome, with few cases reported in the literature. VACTERL association has become a well-known constellation of clinical findings. To our knowledge, the patient is the only infant reported to have diagnostic features of both syndromes.
Touloukian1 described the lumbocostovertebral syndrome in 1972, as a single somatic defect leading to abnormalities in the trunk musculature, ribs and vertebrae. His patient, like ours, was a newborn with malformations or hypoplasia of the eighth through twelth ribs, hemivertebrae, and bilateral lumbar hernias. He attributed these malformations to developmental arrest or agenesis of a somite between the weeks 3 and 5 of embryogenesis. This event was thought to be due to stress, such as anoxia, at that time in pregnancy. We found only 20 reported cases of this syndrome as of 2007.2
VACTERL Association is a well-known association of abnormalities including vertebral anomalies, anal atresia, tracheo-esophageal fistula, renal abnormalities and radial abnormalities. It was first described by Quan and Smith in 1973 as VATER association, a non-random occurrence. Other associated findings have been included and now it is most commonly referred to as the VACTERL association, to include cardiac and limb anomalies.3, 4 Most infants with this association syndrome have two or more of the defects listed above.3 The most common findings include anal atresia, vertebral anomalies, and tracheoesophageal fistula, with occurrences in at least 70% of patients. Renal anomalies occur in approximately one-half of cases.5
Renal anomalies have been reported with the lumbocostovertebral syndrome. Touloukian's1 first case had hydronephrosis secondary to ureteropelvic obstruction, Hancock4 reported crossed–fused renal ectopia in 1988, and Al-Salem6 reported renal agenesis in 1996. Other anomalies associated with lumbocostovertebral syndrome include congenital sciatic hernia, absent tibia, posterior meningocoele, focal nodular hyperplasia of the liver, lung hypoplasia, supranumerary digit, undescended testes, hydrocephalus due to Arnold–Chiari malformation, and hypoplastic sacrum.1, 2, 4, 7, 8 To our knowledge, imperforate anus has never been reported in conjunction with the lumbocostovertebral syndrome. Furthermore, it seems that this is the only reported case of an infant with multiple congenital anomalies that classify into the lumbocostovertebral syndrome as well as the VACTERL association. Being that VACTERL is a non-random association of defects, rather than a specific diagnosis, it is also probable that the anomalies in lumbocostovertebral syndrome are non-randomly associated. It has been speculated that this occurs from a vascular accident early in embryogenesis leading to a developmental field defect.1 Therefore, it is possible that one syndrome could be an extension of the other. At this time, no specific genetic defect has been identified for either syndrome, leaving both as clinical diagnoses. Identification of anomalies associated with VACTERL or lumbocostovertebral syndromes should therefore prompt thorough evaluation for other anomalies. Evaluation should include radiographic studies and appropriate consultation of specialists.
Conflict of interest
The authors declare no conflict of interest.
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Harris, K., Dorn, C. & Bloom, B. Lumbocostovertebral syndrome with associated VACTERL anomalad: a neonatal case report. J Perinatol 29, 826–827 (2009). https://doi.org/10.1038/jp.2009.82
- lumbocostovertebral syndrome
- abdominal hernia
- imperforate anus
- renal agenesis
- absent kidney
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