A case study on Walker-Warburg syndrome.
Walker-Warburg syndrome (WWS) is a rare, lethal genetic disease associated with a cobblestone-type lissencephaly, eye abnormalities, and a type of muscular dystrophy. There is a wide spectrum of brain and eye defects associated with this diagnosis; therefore, this diagnosis may not initially be considered. This diagnosis is especially difficult for families because there is no treatment available and management of the condition is supportive only. Parents of an infant with WWS need to be shown support and empathy while they are dealing with the sorrow of a terminal illness. Use of a nursing model, "Middle range theory of chronic sorrow," will be instrumental in assisting staff as they care for the patient and the patient's family. They also need to be guided toward receiving genetic counseling to weigh their options for future family planning as the risk of another WWS pregnancy is 25%.
Exempla St. Joseph Hospital, Denver, Colorado, USA.
Stephanie L
SL
Kerr
D000015:Abnormalities, Multiple / Q000235:genetics; D001921:Brain / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000235:genetics; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases; D008297:Male; D008364:Mannosyltransferases / Q000235:genetics; D009136:Muscular Dystrophies / Q000151:congenital* / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D013577:Syndrome
D008364:Mannosyltransferases; C082696:protein O-mannosyltransferase