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J Neurosurg Case Lessons
J Neurosurg Case Lessons
J Neurosurg Case Lessons
Journal of Neurosurgery: Case Lessons
2694-1902
American Association of Neurological Surgeons

10.3171/CASE24295
CASE24295
Letter to the Editor
Letter to the Editor. Interesting, rare case, but VACTERL?
Oberg Kerby C MD, PhD 1
1 Loma Linda University, Loma Linda, CA
Correspondence Kerby C. Oberg: koberg@llu.edu.
INCLUDE WHEN CITING Published August 26, 2024; DOI: 10.3171/CASE24295

Disclosures The authors report no conflict of interest.

26 8 2024
26 8 2024
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© 2024 the authors
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the authors
https://creativecommons.org/licenses/by-nc-nd/4.0/ CC BY-NC-ND 4.0 (http://creativecommons.org/licenses/by-nc-nd/4.0/)
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pmcTo the Editor: I read with interest the case reported by Shimekit et al.1 (Shimekit MA, Yesuf EF, Teferi SM, et al. Cartilage within lipomyelomeningocele and ulnar longitudinal deficiency syndrome as VACTERL association, alliance in SHH/GLI3, and Wnt pathway: illustrative case. J Neurosurg Case Lessons. 2024;7[18]:CASE24177). I applaud the authors for describing this interesting case and linking it to the SHH/GLI3 and WNT pathways. I think this is a reasonable hypothesis. Was there any opportunity for genetic analysis of this infant, particularly the tissue associated with the resection, to confirm this hypothesis? Despite my enthusiasm for the case and the potential molecular link, I question whether this case qualifies as a VACTERL association ([costo-vertebral abnormalities; anal atresia; cardiac defects; tracheal-esophageal abnormalities, including atresia, stenosis, and fistula; renal and radial abnormalities; limb abnormalities; single umbilical artery). Anencephaly and spina bifida are neural tube defects, not vertebral anomalies per se, and have a negative correlation with VACTERL association.2 Moreover, an ulnar longitudinal deficiency is rare, and its association with VACTERL is not established; instead, radial variations are described as the limb component of VACTERL, as noted by the authors and the reference they used.3 Some also argue that cardiac malformations should not be included as core criteria, since they are just as common in other disorders with multiple malformations.4 For the diagnosis of VACTERL, certain core features such as anal rectal malformations or tracheoesophageal fistulas are typically weighted more heavily or are required by clinical geneticists.5 These core features were absent in this case. In describing cases with VACTERL association, the goal is to link the common cluster of associated phenotypes with an underlying developmental mechanism, similar to what has been accomplished with CHARGE association (coloboma, heart disease, atresia of the choanae, retarded growth and mental development, genital anomalies, and ear malformations and hearing loss). The CHARGE cluster of phenotypes were linked to a disruption of CHD7, and now it is more aptly referred to as a “syndrome.”6 The underlying etiology of the VACTERL association remains obscure at present. With improved genomic testing, maybe the common linked phenotypes can be better characterized. In the present case, the authors recognized a potential molecular association between the combined phenotypes of a neural tube defect and ulnar longitudinal deficiency. This is sufficient. It does not need an additional label. This recognition provides compelling targets for genomic testing that could confirm the underlying basis of this rare association.

Disclosures

The authors report no conflict of interest.

Correspondence

Kerby C. Oberg: koberg@llu.edu.
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References

1. Shimekit MA Yesuf EF Teferi SM Lemma MG . Cartilage within lipomyelomeningocele and ulnar longitudinal deficiency syndrome as VACTERL association, alliance in SHH/GLI3, and Wnt pathway: illustrative case. J Neurosurg Case Lessons. 2024;7 (18 ):24177.
2. Rittler M Paz JE Castilla EE . VACTERL association, epidemiologic definition and delineation. Am J Med Genet. 1996;63 (4 ):529-536.8826430
3. Carli D Garagnani L Lando M , et al. VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association: disease spectrum in 25 patients ascertained for their upper limb involvement. J Pediatr. 2014;164 (3 ):458-462.24210691
4. Solomon BD , VACTERL/VATER Association. Orphanet J Rare Dis. 2011;6 :56.21846383
5. Solomon BD . The etiology of VACTERL association: current knowledge and hypotheses. Am J Med Genet C Semin Med Genet. 2018;178 (4 ):440-446.30580478
6. Pampal A . CHARGE: an association or a syndrome? Int J Pediatr Orl. 2010;74 (7 ):719-722.
