An infant with trisomy 21 and tachypnea. 2006

Jennifer Marin, and John Lopoo
Division of Emergency Medicine, Children's Hospital and Regional Medical Center, Seattle, WA 98105-0371, USA. jrmmarin@yahoo.com

A 4-month-old infant with trisomy 21 is brought to the emergency department for breathing difficulty. Subsequently, he is diagnosed with a Morgagni diaphragmatic hernia. Tachypnea in an infant with trisomy 21 may be the result of diagnosis such as congenital heart disease, infectious processes, structural anomalies, or aspiration secondary to gastroesophageal reflux or swallowing dysfunction. Knowledge of these abnormalities is important when generating a differential diagnosis in these patients. Although uncommon, a Morgagni hernia may present beyond the newborn period and should be considered when evaluating an infant with trisomy 21 and respiratory difficulty.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D012120 Respiration Disorders Diseases of the respiratory system in general or unspecified or for a specific respiratory disease not available. Disorder, Respiration,Disorders, Respiration,Respiration Disorder
D004314 Down Syndrome A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D006548 Hernia, Diaphragmatic Protrusion of abdominal structures into the THORAX as a result of congenital or traumatic defects in the respiratory DIAPHRAGM. Diaphragmatic Hernia,Diaphragmatic Hernias,Hernias, Diaphragmatic
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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