1/4. Systemic lupus erythematosus in a man with noonan syndrome.noonan syndrome is a multiple congenital anomaly condition characterized by craniofacial anomalies, short stature, cardiac malformations, and normal peripheral blood karyotype analysis. Prior reports of individuals with noonan syndrome have revealed an association with several autoimmune diseases, including vasculitis and anterior uveitis, but no reports of systemic lupus erythematosus (SLE). Here we present the first case report of a 21-year-old man with a clinical diagnosis of noonan syndrome and a recent history of mitral valve dysfunction and systemic lupus erythematosus. We discuss his findings in the context of known features of noonan syndrome and propose that individuals with noonan syndrome be regularly monitored for associated autoimmune phenomena.- - - - - - - - - - ranking = 1keywords = dysfunction (Clic here for more details about this article) |
2/4. noonan syndrome presenting growth hormone neurosecretory dysfunction.noonan syndrome has been diagnosed by the characteristic physical stigmata for more than two decades. Recent studies of growth hormone secretory pattern provide a new category of growth hormone neurosecretory dysfunction to characterize short stature. We describe herein a case of growth hormone neurosecretory dysfunction in a 16-year-old boy with noonan syndrome. Growth hormone neurosecretory dysfunction was diagnosed primarily based on the low amplitude and small numbers of the spontaneous bursts of growth hormone secretion during 12-hour nocturnal growth hormone sampling. Treatment with synthetic human growth hormone has markedly accelerated the growth velocity for one year and a half. This case notes the wide spectrum of short stature in noonan syndrome and the effectiveness of treatment with human growth hormone.- - - - - - - - - - ranking = 7keywords = dysfunction (Clic here for more details about this article) |
3/4. Platelet dysfunction in Noonan's syndrome. A case with a platelet cyclooxygenase-like deficiency and chronic idiopathic thrombocytopenic purpura.Individuals with Noonan's syndrome are likely to have one or more coagulation abnormalities: complex platelet function defects, partial factor xi deficiency, or von Willebrand's disease. A distinctive platelet function defect has not been identified. The authors describe a 24-year-old women with Noonan's syndrome, chronic idiopathic thrombocytopenic purpura (ITP), and a platelet function defect characterized by a greater than 15-minute bleeding time, failure of aggregation and release with 10 microM ADP, 10 microM epinephrine, 750 microM arachidonic acid or 0.019 g/L collagen. A mixture of aspirin-treated platelets with the patient's platelets failed to correct the defect. Addition of 2.5 microM U46619 (a PGG2 analogue) corrected the aggregation and release defect. An electron microscopic analysis failed to reveal structural abnormalities. Thus, the platelet function defect in this patient appears to be a functional deficiency of cyclooxygenase. The presence of autoantiplatelet antibodies in a clinical setting consistent with chronic ITP raises the possibility that the defect may be acquired.- - - - - - - - - - ranking = 4keywords = dysfunction (Clic here for more details about this article) |
4/4. Noonan's syndrome and hypopituitarism.A 37-year-old man with Noonan's syndrome hypopituitarism is described. The patient had small stature, minor facial abnormalities, cubitus valgus and pectus excavatum. In addition, endocrine testing revealed deficiencies of growth hormone, gonadotrophins and TSH. prolactin increased normally in response to TRH administration, but failed to rise after chlorpromazine. Although intrinsic pituitary dysfunction cannot be excluded, the dissociated response of prolactin to TRH and chlorpromazine suggests that the pituitary hormone deficiencies may be secondary to hypothalamic dysfunction.- - - - - - - - - - ranking = 2keywords = dysfunction (Clic here for more details about this article) |