ABSTRACT
BACKGROUND AND OBJECTIVES: Trisomy 18 and trisomy 13 are the most common autosomal trisomies following trisomy 21, with overall incidence rising. Both diagnoses are characterized by multisystem involvement and were previously thought to be incompatible with life. New data suggest that prolonged survival is possible, and thus many families are opting for more aggressive medical interventions. This study aims to describe airway findings in trisomy 18 and trisomy 13, as these have not been comprehensively studied and can impact medical decision-making. We hypothesize that most children with trisomy 18 and trisomy 13 will have abnormal findings on airway endoscopy. METHODS: This a 10-year retrospective analysis of children with trisomy 13 or trisomy 18 who underwent endoscopic airway evaluation at a single center between 2011 and 2021. A total of 31 patients were evaluated. RESULTS: Thirty-one patients were included and underwent flexible bronchoscopy by a pediatric pulmonologist, often in conjunction with rigid bronchoscopy performed by pediatric otolaryngology. Findings were typically complimentary. All patients had at least one clinically significant finding on evaluation, and most patients had both upper and lower airway, as well as static and dynamic airway findings. The most common airway findings in children with trisomy 13 and 18 include tracheomalacia, bronchomalacia, laryngomalacia, hypopharyngeal collapse, glossoptosis, and bronchial compression. CONCLUSION: These findings can have significant implications for clinical care, and thus knowledge of trends has the potential to improve counseling on expected clinical course, presurgical planning, and informed consent before interventions.
Subject(s)
Bronchomalacia , Tracheobronchomalacia , Humans , Child , Infant , Retrospective Studies , Trisomy 13 Syndrome , Trisomy 18 Syndrome , Bronchomalacia/diagnosis , Bronchomalacia/epidemiology , BronchoscopySubject(s)
Cystic Fibrosis , Child , Humans , Cystic Fibrosis/drug therapy , Cystic Fibrosis/genetics , Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Cystic Fibrosis Transmembrane Conductance Regulator/metabolism , Aminophenols/therapeutic use , Aminopyridines/therapeutic use , Body Composition , MutationABSTRACT
Mutations in the gene for the ferritin light chain (FTL) often present with hypoferritinemia associated with progressive, late onset extrapyramidal dysfunction. However, it has been suggested that some FTL mutations may impact ferritin levels without any neurological manifestations. We report on a FTL mutation in a three generation family with autosomal dominant hypoferritinemia without neurodegeneration. The 4 year old proband was identified with longstanding history of hypoferritinemia without evidence of anemia. Brain MRI did not show any evidence of iron deposition. It was found that the patient's 19 month old sister, 30 year old mother and 58 year old maternal grandmother also had hypoferritinemia and normal iron levels. Over the next nine years, none of these persons had any evidence of neurological dysfunction, including movement disorders, gait disturbances, behavioral or psychiatric dysfunction. Whole exome sequencing revealed a heterozygous interstitial deletion of at least 5 kb within cytogenic band 19q13.33 involving exons 3 and 4 of FTL in all affected family members. This 3' FTL deletion is predicted to create a significantly truncated protein product. We conclude that haploinsufficiency of FTL may be associated with hypoferritinemia without neurological dysfunction.
