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Neonatal Stridor in Familial Congenital Laryngeal Paralysis (Plott Syndrome): ?A Case Study in an Omani Family.

ABSTRACT: Stridor presenting soon after birth due to bilateral abductor vocal cord paralysis (VCP) is rare. We report a family with bilateral VCP affecting four male members in two generations and hence suggesting X-linked recessive inheritance. Severe stridor in the neonatal period requires meticulous airway evaluation, and tracheostomy in 35-70% cases. The current trend is towards conservative management and tracheostomy is avoided unless respiratory distress is severe or life-threatening. Neonatal VCP can be an isolated finding, or it can be familial with or without syndromic features. There are very few reports of non-syndromic familial cases. Unlike the cases reported previously, none of our patients required prolonged intubation or tracheostomy suggesting an excellent prognosis in such cases. This is the first case study of congenital familial non-syndromic VCP reported from the Middle East.

SUBMITTER: Shatla ES

PROVIDER: S-EPMC5702985 | biostudies-other | 2017 Nov

REPOSITORIES: biostudies-other

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Neonatal Stridor in Familial Congenital Laryngeal Paralysis (Plott Syndrome):  A Case Study in an Omani Family.

Shatla Emad Sadek ES Prashanth Gowda Parameshwara GP Aguiar Rodney R Shivalingam Ganji G Al Haq Adeel Ahmed AA

Oman medical journal 20171101 6

Stridor presenting soon after birth due to bilateral abductor vocal cord paralysis (VCP) is rare. We report a family with bilateral VCP affecting four male members in two generations and hence suggesting X-linked recessive inheritance. Severe stridor in the neonatal period requires meticulous airway evaluation, and tracheostomy in 35-70% cases. The current trend is towards conservative management and tracheostomy is avoided unless respiratory distress is severe or life-threatening. Neonatal VCP ...[more]

PMID: 29218130

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Project description:Background: Congenital nephrotic syndrome, historically defined by the onset of large proteinuria during the first 3 months of life, is a rare clinical disorder, generally with poor outcome. It is caused by pathogenic variants in genes associated with this syndrome or by fetal infections disrupting podocyte and/or glomerular basement membrane integrity. Here we describe an infant with congenital CMV infection and nephrotic syndrome that failed to respond to targeted antiviral therapy. Case and literature survey highlight the importance of the "tetrad" of clinical, virologic, histologic, and genetic workup to better understand the pathogenesis of CMV-associated congenital and infantile nephrotic syndromes. Case Presentation: A male infant was referred at 9 weeks of life with progressive abdominal distention, scrotal edema, and vomiting. Pregnancy was complicated by oligohydramnios and pre-maturity (34 weeks). He was found to have nephrotic syndrome and anemia, normal platelet and white blood cell count, no splenomegaly, and no syndromic features. Diagnostic workup revealed active CMV infection (positive CMV IgM/PCR in plasma) and decreased C3 and C4. Maternal anti-CMV IgG was positive, IgM negative. Kidney biopsy demonstrated focal mesangial proliferative and sclerosing glomerulonephritis with few fibrocellular crescents, interstitial T- and B-lymphocyte infiltrates, and fibrosis/tubular atrophy. Immunofluorescence was negative. Electron microscopy showed diffuse podocyte effacement, but no cytomegalic inclusions or endothelial tubuloreticular arrays. After 4 weeks of treatment with valganciclovir, plasma and urine CMV PCR were negative, without improvement of the proteinuria. Unfortunately, the patient succumbed to fulminant pneumococcal infection at 7 months of age. Whole exome sequencing and targeted gene analysis identified a novel homozygous, pathogenic variant (2071+1G>T) in NPHS1. Literature Review and Discussion: The role of CMV infection in isolated congenital nephrotic syndrome and the corresponding pathological changes are still debated. A search of the literature identified only three previous reports of infants with congenital nephrotic syndrome and evidence of CMV infection, who also underwent kidney biopsy and genetic studies. Conclusion: Complete workup of congenital infections associated with nephrotic syndrome is warranted for a better understanding of their pathogenesis ("diagnostic triad" of viral, biopsy, and genetic studies). Molecular testing is essential for acute and long-term prognosis and treatment plan.

Dataset Information

Neonatal Stridor in Familial Congenital Laryngeal Paralysis (Plott Syndrome): ?A Case Study in an Omani Family.

Publications

Neonatal Stridor in Familial Congenital Laryngeal Paralysis (Plott Syndrome): A Case Study in an Omani Family.

Similar Datasets

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Neonatal Stridor in Familial Congenital Laryngeal Paralysis (Plott Syndrome):  A Case Study in an Omani Family.