A Case of Respiratory Distress in a Neonate
Lourdes Cohen* and Leanna Laor
Department of Pediatrics, Neonatal Division, Flushing Hospital Medical Center, USA
Submission: March 13, 2019; Published: April 12, 2019
*Corresponding author: Lourdes Cohen, Department of Pediatrics, Neonatal Division, Flushing Hospital Medical Center, 4500 Parsons Boulevard, Flushing, NY 11355, USA
How to cite this article: Lourdes C, Leanna L. A Case of Respiratory Distress in a Neonate. Acad J Ped Neonatol. 2019; 7(4): 555776. DOI: 10.19080/AJPN.2019.07.555776
Abstract
Keywords: Respiratory distress; Newborn; Primary ciliary dyskinesia
Introduction
This case illustrates a rare cause of respiratory distress in a newborn who was found to be heterozygous for 2 variants on the Primary Ciliary Dyskinesia (PCD) gene, DNAH5, previously described as of unknown clinical significance.
Case Presentation
DNAH5 gene mutation of unrecognized clinical significance associated with ciliary dyskinesia.
Discussion
Our case report identified a neonate who presented with severe respiratory distress in the neonatal period associated with situs inversus totalis. Genetic testing was negative for primary ciliary dyskinesia (PCD). However, the patient was found to be heterozygous for p.S906T and p.A369G, both variants of unknown significance on the DNAH5 gene.
Situs inversus totalis is a rare condition where the normal positioning of the thoracic and abdominal organs is a mirror image of the normal anatomy. Prevalence of such a condition is estimated to be 1 in 10,000 [1]. Males and females are affected equally with an incidence of 1:1. The condition is generally diagnosed when the patient seeks medical attention due to an unrelated condition [2]. When the condition is associated with PCD, the patient is said to have Kartagener syndrome.
The DNAH5 (dynein axonemal heavy chain 5) is a gene that plays an integral part in the instructions for building the protein called dynein [3]. Dynein functions as the force to move cilia, the finger-like projections that are present on the cell surface allowing the cell or the fluid around it to move [3]. More than 80 mutations of the DNAH5 gene have been found to be associated with PCD, accounting for approximately 15% of all cases [4]. Other pathologies associated with mutations in DNAH5 include, sinusitis, bronchiectasis, chronic otitis media, and male infertility [4]. Generally speaking, in neonates with a diagnosis of PCD, more than 75% present with symptoms of respiratory distress, requiring supplemental oxygen for a period of time [5].
Conclusion
Our patient was found to be heterozygous for the p.S906T and p.A369G, both variants previously describe as of unknown clinical significance on the DNAH5 gene. We postulate that such a variant has clinical relevance since the baby presented in the neonatal period with significant respiratory distress requiring mechanical ventilation and oxygen supplementation, total situs inversus, chronic cough and failure to thieve.
References
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- Uchenna DI, Jesuorobo DE, Anyalechi JI (2012) Dextrocardia with situs inversus totalis in an adult Nigerian: a case report. American Journal of Medicine and Medical Sciences 2(3): 59-61.
- National Institute of Health (2018) DNAH5 gene.
- Failly M, Bartoloni L, Letourneau A, Munoz A, Falconnet E, et al. (2009) Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. Journal of Medical Genetics 46(4): 281-286.
- Zariwala MA, Knowles MR, Leigh MW (1993-2018) Primary Ciliary Dyskinesia. In: Adam MP, et al., (Eds) (2007) GeneReviews®. Seattle (WA): University of Washington, USA.