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[Notes from practice]
Elena Nikolaevna Serebryakova; Alexandra Vladislavovna Sabirova; Dina Rafikovna Pogosova; Artem Sergeevich Kozhevnikov;
Haddad syndrome (HS) is a rare hereditary disease characterized by a combination of congenital central hypoventilation syndrome (CCHS) and Hirschsprung’s disease (HD), both of which are referred to as neurocristopathies. The article presents a case of HS in a boy with CCHS, confirmed by a mutation of polyalanine repeat extension found in one of the PHOX2B genes and a total form of aganliosis of the large intestine. From birth, the patient was noted to be dependent on respiratory support and symptoms of partial intestinal obstruction; at the age of 1 month, he was diagnosed with HD. The combination of HD with impaired alveolar ventilation became the basis for a molecular genetic study, HS was diagnosed at the age of 3 months.
References:
1. Broch A., Trang H., Montalva L., Berrebi D., Dauger S., Bonnard A. Congenital central hypoventilation syndrome and Hirschsprung disease: A retrospective review of the French National Registry Center on 33 cases. Pediatr. Surg. 2019;54(11):2325-2330. https://doi.org/10.1016/j.jpedsurg.2019.02.014
2. Woo H. Y., Oh C., Han J. W., Kim H. Y., Jung S. E. Clinical features of children with Haddad syndrome: A single-center experience. J. Pediatr Surg. 2020;55(3):387- 392. https://doi.org/10.1016/j.jpedsurg.2019.01.066
3. Guzoglu N., Aslan M. K., Gunay Y. D., Atasoy P., Ceylaner S., Aliefendioglu D. A novel mutation, which causes a frameshift in the PHOX2B gene causes Haddad syndrome. Clin. Dysmorphol. 2020;29(3):152-154. https://doi.org/10.1097/MCD.0000000000000317
4. Hino A., Terada J., Kasai H., Shojima H., Ohgino K. [et al.]. Adult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis. J. Clin. Sleep Med. 2020;16(11):1891-1900. https://doi.org/10.5664/jcsm.8732
5. Dumova S. V., Semenova N. A., Chugunova O. L., Babak O. A., Klabukova Yu. V., Shvabrova Ya. S. Congenital central hypoventilation syndrome caused by a de novo deletion in the PHOX2B gene. Pediatriya. Zhurnal im. G. N. Speranskogo. – Pediatrics. Journal them G. N. Speransky. 2019;98(2):235-238. (In Russ.).
Keywords: Haddad syndrome, congenital central hypoventilation syndrome, Hirschsprung’s disease, PHOX2B gene, newborns, children