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The severity of unilateral pulmonary agenesis varies depending on the area of tissue affected, being either a single lobe or a whole lung. [4] The clinical features varies in individuals from asymptomatic to various respiratory complaints. [4] The occurrences of symptoms also vary from infant stage to childhood, teenager, and adult life. [4]
Andermann syndrome, also known as agenesis of corpus callosum with neuronopathy (ACCPN), Charlevoix disease and KCC3 axonopathy among other names, [1] is a very rare neurodegenerative genetic disorder that damages the nerves used to control muscles and related to sensation and is often associated with agenesis of the corpus callosum. [1] [2] [3 ...
Causes of pulmonary hypoplasia include a wide variety of congenital malformations and other conditions in which pulmonary hypoplasia is a complication. [1] These include congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, fetal hydronephrosis, caudal regression syndrome, mediastinal tumor, and sacrococcygeal teratoma with a large component inside the fetus.
Alveolar capillary dysplasia (ACD) is a rare, congenital diffuse lung disease characterized by abnormal blood vessels in the lungs that cause highly elevated pulmonary blood pressure and an inability to effectively oxygenate and remove carbon dioxide from the blood.
The European Consensus Guidelines on the Management of Respiratory Distress Syndrome highlight new possibilities for early detection, and therefore treatment of IRDS. [8] The guidelines mention an easy to use rapid point-of-care predictive test that is now available [ 9 ] and how lung ultrasound, with appropriate training, expertise and ...
Incidence of congenital malformations associated with tracheal agenesis. Results were obtained from a total of 32 individual case studies. [11]The classic in-utero symptoms of tracheal agenesis are an absence of the trachea leading to congenital high airway obstruction syndrome, [12] [13] lung distention, polyhydramnios, heart malformations, heart displacement and hydrops fetalis.
CHS is exhibited typically as a congenital disorder, but in rare circumstances, can also result from severe brain or spinal trauma or injury (such as after an automobile accident, stroke, asphyxiation, brain tumor, encephalitis, poisoning, as a complication of neurosurgery) or due to particular neurodegenerative conditions such as Parkinson's disease, multiple system atrophy, or multiple ...
There are several neuropsychiatric disorders linked with megalencephaly; however, studies have shown that autism is the most prevalent association with the malformation of MEG. [5] Although no treatment currently exists for megalencephaly, management methods are focused at reducing deficits linked with autism.