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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/CASE24304
CASE24304
Letters to the Editor
Letter to the Editor Response
Shimekit Mikael Aseged MD 1
Yesuf Ermias Fikru MD 1
Teferi Simon Mulugeta MD 1
Lemma Mahlet Getachew MPH 2
1 Asrat Woldeyes Health Science Campus, Debre Berhan University, Debre Berhan, Ethiopia
2 Gamby Medical University, Addis Ababa, Ethiopia
Correspondence Mikael Aseged Shimekit: mikehallo12@gmail.com.
INCLUDE WHEN CITING Published August 26, 2024; DOI: 10.3171/CASE24304.

Disclosures The authors report no conflict of interest.

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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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pmcWe thank Dr. Oberg for reading our article and for his comments and suggestions. Genetic analysis could not be made because of its unavailability and the parents’ financial constraints.

As Dr. Oberg precisely mentioned and cited, Solomon et al.1 stated that around 90% of their responders agreed that vertebral anomalies, TEF, and anal atresia are defining core features for VACTERL associations. In addition to that, one-quarter of their respondents agreed for only 2 components to be present to define this association. Moreover, some authors think that cardiac malformation could not be used as a defining feature, as mentioned correctly, but it is stated that 3 features should be available to make a diagnosis, and we believe that we have 2 core features in our article, which is enough to suggest the diagnosis.

Ulnar longitudinal deficiency has never been reported with VACTERL association, but Al-Qattan2 tried to classify VACTERL association into 3 groups based on limb anomalies: VACTERL1 with normal limb, VACTERL2 with limb anomalies other than radial ray defects of the upper limb, and VACTERL3 with radial ray defects. The author showed the embryological bases for the pathology, and we think that our patient could fall into the VACTER2 group.

Although Rittler et al. suggested that a neural tube defect is negatively associated with VACTERL, they mentioned spina bifida aperta,3 but our case was closed spina bifida with vertebral posterior arch defect, for which no positive or negative association was documented. As Dr. Oberg has described it accurately, only genomic testing would confirm the association with this type of rare manifestation.

Disclosures

The authors report no conflict of interest.

Correspondence

Mikael Aseged Shimekit: mikehallo12@gmail.com.
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References

1. Solomon BD Bear KA Kimonis V , et al. Clinical geneticists’ views of VACTERL/VATER association. Am J Med Genet A. 2012;158A (12 ):3087-3100.23165726
2. Al-Qattan MM . The classification of VACTERL association into 3 groups according to the limb defect. Plast Reconstr Surg Glob Open. 2021;9 (2 ):e3360.33680640
3. Rittler M Paz JE Castilla EE . VACTERL association, epidemiologic definition and delineation. Am J Med Genet. 1996;63 (4 ):529-536.8826430
