Background: A genetic disorder should be considered when an infant presents with multiple congenital anomalies. Because of the acute presentation of an infant with multiple life-threatening defects, a genetic diagnosis of a rare disorder took weeks to delineate.
Clinical Findings: This case describes a late preterm infant who presented at birth with congenital diaphragmatic hernia, tetralogy of Fallot, cleft lip, low-set ears, and hypertelorism.
Primary Diagnosis: Donnai-Barrow syndrome was the final diagnosis confirmed by a defect observed on the LRP2 (2q31.1) gene using sequence analysis. This is a rare disorder that presents with a variety of phenotypic features in infants.
Interventions: Initial neonatal resuscitation in the delivery room included intubation, positive pressure ventilation, and oxygen supplementation. Extracorporeal membrane oxygenation therapy was initiated from day of life 3 to 15. Initial surgery included correction of the congenital diaphragmatic hernia, and further surgical procedures included tracheostomy, gastrostomy tube, circumcision, ventricular septal defect repair, and cleft lip repair. Physical, occupational, and speech therapies were also initiated.
Outcomes: The infant was transported to a pediatric rehabilitation facility at 6 months of life for further management of his chronic lung disease requiring tracheostomy with ventilator dependence.
Practice Recommendations: Early recognition and diagnosis of genetic syndromes can improve family education and guide treatment interventions. An underlying syndrome should be suspected when an infant presents with multiple congenital defects. Infants with Donnai-Barrow syndrome should have thorough cardiac, neurologic, ophthalmologic, audiologic, and renal examinations due to the gene mutation effects on those systems.
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http://dx.doi.org/10.1097/ANC.0000000000000766 | DOI Listing |
Ann Indian Acad Neurol
July 2024
Department of Neurology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India.
Proc Natl Acad Sci U S A
May 2024
Department of Applied Molecular Medicine, Kidney Research Center, Niigata University Graduate School of Medical and Dental Sciences, Niigata City 951-8510, Japan.
Case Rep Genet
September 2023
Hospital Neuropsychiatry Service, ASST Rhodense, Rho, Milan, Italy.
The gene encodes megalin (LRP-2/GP330), a large single-spanning transmembrane glycoprotein that serves as a multiligand endocytotic receptor and mediates the reabsorption of albumin in the proximal renal tubule. is implicated in an autosomal recessive disorder characterized by dimorphisms, ocular anomalies, sensorineural deafness, proteinuria, epilepsy, and intellectual disability: a clinical condition called Donnai-Barrow syndrome (DBS) or facio-oculo-acoustico-renal (FOAR) syndrome. Pathogenic variants in have been reported in fewer than 60 patients, but a detailed description of seizures, electroencephalographic patterns, imaging findings, behavioral phenotype, and long-term follow-up is still needed.
View Article and Find Full Text PDFClin Genet
December 2023
Pediatric Clinic, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.
We report the case of two siblings with incomplete Donnai-Barrow syndrome (DBS) phenotype carrying three LRP2 variants never associated before with DBS phenotype.
View Article and Find Full Text PDFKidney Int
October 2023
Department of Biomedicine, Aarhus University, Aarhus, Denmark. Electronic address:
Proteinuria is a prominent feature of chronic kidney disease. Interventions that reduce proteinuria slow the progression of chronic kidney disease and the associated risk of cardiovascular disease. Here, we propose a mechanistic coupling between proteinuria and proprotein convertase subtilisin/kexin type 9 (PCSK9), a regulator of cholesterol and a therapeutic target in cardiovascular disease.
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