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Background <p>Neonates with multiple congenital anomalies present diagnostic and management challenges, especially when accompanied by multisystemic alterations and feeding difficulties. Chromosomal microarray analysis enables identification of pathogenic variants that explain complex clinical features and guide individualized management.</p> Case presentation <p>We report a Hispanic female neonate born at 37 weeks with intrauterine growth restriction. Clinical features included micrognathia, microphthalmia, high-arched palate, low-set posteriorly rotated ears, bilateral plantar syndactyly, shoulder girdle malformations, generalized hypotonia, and absent suck reflex. Neuroimaging revealed ventriculomegaly, suspected cerebellar hypoplasia, and occipital horn blood products. Chromosomal microarray identified a 15.72&#xa0;Mb deletion at 2q24.3-q32.1 encompassing SCN1A, SCN2A, SCN3A, and the HOXD cluster, classified as pathogenic. The infant demonstrated profound oral-motor dysfunction with absent suck and impaired suck-swallow-breathe coordination. Videofluoroscopic swallow study was not performed due to clinical instability; bedside assessments revealed no desaturation, bradycardia, or aspiration during monitored feeding trials. Stridor and tracheal tugging raised suspicion for laryngomalacia. Intensive multidisciplinary feeding therapy including speech-language pathology, oral-motor stimulation with lemon swabs, and positioning strategies led to progressive improvement. By day 25, the infant transferred 60 mL orally with slow-flow nipple. By discharge on day 38, full oral feeding was achieved (60 mL Enfamil every 3&#xa0;h with good sucking technique), with successful breastfeeding attempts initiated. Discharge weight was 2.415&#xa0;kg (290-gram gain from birth, averaging 7.6&#xa0;g/day). Nasogastric supplementation was discontinued and gastrostomy tube placement successfully deferred.</p> Conclusion <p>This case demonstrates the phenotypic spectrum of 2q24.3-q32.1 deletions with detailed documentation of severe feeding dysfunction requiring 38-day hospitalization. While SCN gene haploinsufficiency may contribute to feeding impairment through effects on brainstem motor coordination, the etiology is likely multifactorial, involving hypotonia, craniofacial anomalies, and airway abnormalities. Early recognition of feeding dysfunction and intensive multidisciplinary intervention resulted in successful achievement of full oral feeding. This underscores the value of chromosomal microarray testing and comprehensive follow-up for developmental monitoring and seizure surveillance.</p>

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Feeding dysfunction in a neonate with interstitial deletion of chromosome 2q24.3-q32.1: a case report

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月6日

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  • Natalia Alvarado-Ramos,
  • Jesús M. Rosario-Rivera,
  • Estefania Rivera-Pedraza,
  • Alondra Melero-Guzmán,
  • Adyanis Centeno,
  • Savannah J. Beltrán,
  • Angel Pacheco Vega

摘要

Background

Neonates with multiple congenital anomalies present diagnostic and management challenges, especially when accompanied by multisystemic alterations and feeding difficulties. Chromosomal microarray analysis enables identification of pathogenic variants that explain complex clinical features and guide individualized management.

Case presentation

We report a Hispanic female neonate born at 37 weeks with intrauterine growth restriction. Clinical features included micrognathia, microphthalmia, high-arched palate, low-set posteriorly rotated ears, bilateral plantar syndactyly, shoulder girdle malformations, generalized hypotonia, and absent suck reflex. Neuroimaging revealed ventriculomegaly, suspected cerebellar hypoplasia, and occipital horn blood products. Chromosomal microarray identified a 15.72 Mb deletion at 2q24.3-q32.1 encompassing SCN1A, SCN2A, SCN3A, and the HOXD cluster, classified as pathogenic. The infant demonstrated profound oral-motor dysfunction with absent suck and impaired suck-swallow-breathe coordination. Videofluoroscopic swallow study was not performed due to clinical instability; bedside assessments revealed no desaturation, bradycardia, or aspiration during monitored feeding trials. Stridor and tracheal tugging raised suspicion for laryngomalacia. Intensive multidisciplinary feeding therapy including speech-language pathology, oral-motor stimulation with lemon swabs, and positioning strategies led to progressive improvement. By day 25, the infant transferred 60 mL orally with slow-flow nipple. By discharge on day 38, full oral feeding was achieved (60 mL Enfamil every 3 h with good sucking technique), with successful breastfeeding attempts initiated. Discharge weight was 2.415 kg (290-gram gain from birth, averaging 7.6 g/day). Nasogastric supplementation was discontinued and gastrostomy tube placement successfully deferred.

Conclusion

This case demonstrates the phenotypic spectrum of 2q24.3-q32.1 deletions with detailed documentation of severe feeding dysfunction requiring 38-day hospitalization. While SCN gene haploinsufficiency may contribute to feeding impairment through effects on brainstem motor coordination, the etiology is likely multifactorial, involving hypotonia, craniofacial anomalies, and airway abnormalities. Early recognition of feeding dysfunction and intensive multidisciplinary intervention resulted in successful achievement of full oral feeding. This underscores the value of chromosomal microarray testing and comprehensive follow-up for developmental monitoring and seizure surveillance.