Cases reported "Noonan Syndrome"

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1/268. Supraventricular tachycardia terminated by external mechanical stimulation: a case of "pothole conversion".

    Supraventricular tachycardia requires atrial or AV junctional tissue for its initiation and maintenance. Acute management of supraventricular tachycardias include vagal maneuvers, pharmacological treatment, and electrical cardioversion. We describe a case of a supraventricular tachycardias cardioverted by the jolt of the ambulance hitting a pothole. The proposed mechanism of cardioversion is an external mechanical one similar to the precordial thump. ( info)

2/268. Neurofibromatosis-noonan syndrome and acute lymphoblastic leukemia: a report of two cases.

    Two boys with neurofibromatosis-noonan syndrome in whom acute lymphoblastic leukemia (ALL) developed are described. Both patients demonstrated B-lineage leukemias with normal cytogenetics. They were treated with combination chemotherapy and remain in remission off therapy. patients with neurofibromatosis-noonan syndrome may be at increased risk for ALL. ( info)

3/268. noonan syndrome and cavernous hemangioma of the brain.

    We present two patients with multiple characteristics that occur in Noonan phenotype and cavernous hemangioma of the brain. The first patient, who had been diagnosed radiographically as having a cavernous hemangioma in the left basal ganglia at age 15 years, developed massive intracerebral hemorrhage, resulting in sudden death at home at 19 years. The second patient, who was diagnosed radiographically as having a cavernous hemangioma in the left parietal lobe at age 17 years, is being followed carefully (the patient is currently 18 years old). A review disclosed four cases of structural cerebrovascular abnormalities with or without subsequent hemorrhage. Neither these four patients nor our two patients had any severe anomalies in the heart or large vessels, which are frequently seen in patients with noonan syndrome. Cerebrovascular abnormalities might have a significant influence on the prognosis of patients with noonan syndrome, especially those having no severe abnormalities in the heart or large vessels. ( info)

4/268. Palinopsia with bacterial brain abscess and noonan syndrome.

    Though positive visual symptoms can be psychological in nature, or can result from a perceptive or anxious patients recognizing optical principals in the eye itself, this case illustrates how a thorough history is required to delineate those rarer signs which accompany serious macular or neuro-ophthalmic pathology. ( info)

5/268. Prenatal features of noonan syndrome.

    We report six cases of noonan syndrome which presented prenatally with sonographic abnormalities. These included increased nuchal fluid, short femora, pleural effusions, hydrops, cardiac and renal abnormalities. A review of all cases of noonan syndrome seen at two regional genetics centres confirms the association with these sonographic abnormalities. These cases demonstrate the diversity of prenatal presentation of noonan syndrome and highlight the need to consider this diagnosis, particularly when faced with a fetus with a normal karyotype and varying degrees of oedema or hydrops, with a short femur length. ( info)

6/268. Symptomatic moyamoya disease and aortic coarctation in a patient with Noonan's syndrome: strategies for management.

    Noonan's syndrome is a multiple congenital anomaly syndrome with characteristic facial features, short stature, congenital heart defects and a recently reported association with moyamoya disease. We report a case of symptomatic moyamoya disease and aortic coarctation in a patient with Noonan's syndrome. The case illustrates the need for a rational, coordinated treatment plan for dealing with the cardiac and neurologic syndromic anomalies to help avoid undesirable outcomes. ( info)

7/268. noonan syndrome presented with cystic hygroma and chylothorax: case report.

    A cystic hygroma was found in a full-term (39 week-old) male newborn delivered by cesarian section. polyhydramnios was diagnosed by sonography at 21 weeks of gestation. Clinical manifestations at birth, such as respiratory distress, tachypnea and chylothorax were successfully relieved by the insertion of chest tube and medical therapy. Other conditions, which included mild hydronephrosis of left kidney, thickening of aortic and pulmonary valves with mild mitral and tricuspid valves regurgitation, subsided within six months. The cystic hygroma regressed to a webbed neck. In general, the features and clinical manifestations of the present case resembled the criteria of noonan syndrome including various congenital heart defects; webbed neck; chest deformity; a characteristic facial appearance comprising of a broad forehead, ocular hypertelorism, antimongoloid slant of palpebral fissures, low set ears; and bilateral undescended testis etc., suggested by Noonan and other subsequent authors. The outcome of this infant was satisfactory following medical and surgical therapy (chest tube, orchiopexy) and a special dietary regimen. ( info)

8/268. Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male.

    A male patient is reported with a 45,X karyotype and Leri-Weill dyschondrosteosis (LWD). FISH analysis with SHOX and SRY gene probes was carried out. One copy of both SHOX and SRY was detected in interphase nuclei, clarifying the origin of LWD and the male phenotype. Molecular results suggested that the 45,X karyotype arose through two independent events. The first occurred at paternal meiosis leading to an unequal crossing over between the short arms of the X and Y chromosomes. As a consequence, the SRY gene was translocated onto Xp, thereby explaining the male phenotype of the patient. The second event probably occurred at maternal meiosis or at the early stages of the zygote resulting in the loss of the maternal x chromosome. ( info)

9/268. Multiple left-sided cardiac lesions in one of Noonan's original patients.

    We describe a complex case of obstruction of the left ventricular outflow tract in one of Dr. Noonan's original patients. Intraoperative findings revealed pathology at the valvar, subvalvar and supravalvar positions. patients with noonan syndrome are traditionally described as having right-sided cardiac pathology. review of the literature revealed left-sided lesions to occur in a substantial number of these patients. We therefore suggest the routine employment of cardiac ultrasonography in all patients with noonan syndrome with attention directed toward left-sided pathology, as well as the frequent pulmonary valvar pathology. ( info)

10/268. Juvenile myelomonocytic leukemia and noonan syndrome.

    A case of juvenile myelomonocytic leukemia (JMML, previously referred to as JCML) in a neonate with noonan syndrome (NS) is described. The boy presented with bilateral congenital hydrothoraces, nonimmune hydrops, dysmorphic facies, persistent thrombocytopenia, and leukocytosis. The diagnosis of JMML was made on bone marrow cell culture studies. review of the literature reveals an unusual preponderance of hematologic malignancies, in particular JMML, among patients with NS. Of 40 NS patients admitted to the authors' institution during a 10-year period, there were 4 (10%) with evidence of a monocytic proliferation, which resolved spontaneously. The authors postulate that patients with NS may have an increased incidence of myeloproliferative disorders, which in most cases appears to be benign but may be preleukemic or even lethal. ( info)
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