Subvalvular pulmonary stenosis, demyelination and myelodysplasia with monosomy 7.
We report a 23-year-old male with subvalvular pulmonary stenosis (PS) presenting with concurrent acute demyelinating neuropathy and myelodysplasia with monosomy 7. There was no stigmata of Noonan syndrome or neurofibromatosis, nor any family history of cardiac or hematologic disorders. There are 40 reported pediatric cases of Noonan syndrome with subvalvular PS that developed leukemia, over two-thirds with monosomy 7. There is also a genetic overlap between Noonan syndrome and neurofibromatosis, which is also closely associated with demyelination and leukemia. The importance of recognition of rare clinical syndromes that may predispose to leukemia is discussed.
Au
W Y
WY
Department of Medicine, Queen Mary Hospital, Hong Kong, People's Republic of China. auwing@hotmail.com
Ma
S K
SK
Wan
T S
TS
Jim
M H
MH
Kwong
Y L
YL
D000328:Adult; D002897:Chromosomes, Human, Pair 7; D003711:Demyelinating Diseases; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease; D020275:Guillain-Barre Syndrome / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008297:Male; D009006:Monosomy; D009190:Myelodysplastic Syndromes / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics; D011662:Pulmonary Subvalvular Stenosis