Biomaterial Database

[Neonatal chylothorax with trisomy 21]. 2004

O Miera, and E Mildenberger, and A van Baalen, and N Fuhr

Kinderklinik, Universitätsklinikum Benjamin Franklin, Freie Universität Berlin. miera@dhzb.de

Neonatal chylothorax is an uncommon cause of respiratory distress in the newborn. It may result from anomalous lymph drainage with or without association with aneuploidy syndromes (trisomy, Turner's syndrome, Noonan's syndrome), from injury to the thoracic duct, and from obstruction of the superior vena cava. We report a term newborn and a premature infant with neonatal chylothorax, both associated with trisomy 21. In the case of the term infant, bilateral pleural effusions were diagnosed immediately before birth. The baby suffered from respiratory distress. The physical findings were characteristic of trisomy 21. In the premature infant (gestational age 24 weeks, 735 g) the ductus arteriosus was ligated on day nine after birth. Four days after surgery a central venous line was inserted via the left vena mediana cubiti into the left vena subclavia. Nine days after surgery a left-sided chylothorax occurred. The infant had subtle signs of a trisomy 21 (slightly enlarged tongue, brachycephalic head. questionable simian crease). In both children, cytogenetic studies were done and confirmed the diagnosis of trisomy 21. Infants with neonatal chylothorax should be carefully evaluated for dysmorphic signs of a trisomy or monosomy. Premature infants may present with only subtle clinical signs requiring cytogenetic studies to confirm an aneuploidy syndrome.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297	Male		Males
D010996	Pleural Effusion	Presence of fluid in the pleural cavity resulting from excessive transudation or exudation from the pleural surfaces. It is a sign of disease and not a diagnosis in itself.	Effusion, Pleural,Effusions, Pleural,Pleural Effusions
D011247	Pregnancy	The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.	Gestation,Pregnancies
D012127	Respiratory Distress Syndrome, Newborn	A condition of the newborn marked by DYSPNEA with CYANOSIS, heralded by such prodromal signs as dilatation of the alae nasi, expiratory grunt, and retraction of the suprasternal notch or costal margins, mostly frequently occurring in premature infants, children of diabetic mothers, and infants delivered by cesarean section, and sometimes with no apparent predisposing cause.	Infantile Respiratory Distress Syndrome,Neonatal Respiratory Distress Syndrome,Respiratory Distress Syndrome, Infant
D002874	Chromosome Mapping	Any method used for determining the location of and relative distances between genes on a chromosome.	Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D002916	Chylothorax	The presence of chyle in the thoracic cavity. (Dorland, 27th ed)
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
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
D005260	Female		Females