Biventricular hypertrophic cardiomyopathy with right ventricular outflow tract obstruction associated with Noonan syndrome in an adult.

This report describes an adult patient with Noonan syndrome accompanied by biventricular hypertrophic cardiomyopathy causing isolated right ventricular outflow tract obstruction. Biventricular hypertrophic cardiomyopathy causing right- and/or left-side outflow tract obstruction, as well as valvular pulmonary stenosis, is relatively common in infants with Noonan syndrome. However, this condition without a dysplastic pulmonary valve, or indeed any polyvalvular dysplasia, is rare in adults with Noonan syndrome. Treatment with a beta-adrenergic receptor blocking agent improved the patient's symptoms. Because neither the etiologic and prognostic relationship nor the genetic linkage between hypertrophic cardiomyopathy associated with Noonan syndrome and non-syndromic hypertrophic cardiomyopathy is clearly defined, clinicopathological findings and further follow-up may provide important evidence for the pathogenesis of hypertrophic cardiomyopathy.

[A patient who developed dermatomyositis during the 1st trimester of gestation and improved after abortion].

This patient was a 30-year-old woman who was in the 8th week of her first pregnancy with three embryos. She developed fever, myalgia and weakness of the proximal muscles, and erythema of the face, dorsal aspects of elbows, and knees. Routine blood examinations showed elevated serum CK. Immunologically, an anti-Jo-1 antibody was positive. Skin biopsy revealed mucinosis and edema in the superficial layer of the corium, and liquid alternation in the basal layer of the epidermis. From these findings, this patient was diagnosed as having dermatomyositis. She was placed on oral prednisolone (80 mg daily), but her clinical symptoms did not improve and all fetuses died by the 11th week of gestation. Then she underwent dilation and curettage and after this operation her disease rapidly subsided. It seemed that fetuses were causatively related to the development of dermatomyositis possibly by changing maternal immune condition. There were six reported cases with dermatomyositis/polymyositis who developed during the first trimester of gestation. Four of these 6 patients were treated with oral steroid; however, only one patient ended in normal delivery. More aggressive therapy, other than corticosteroid, may be required to improve fetal prognosis.

[A case of idiopathic brain calcification associated with dyschromatosis symmetrica hereditaria, aplasia of dental root, and aortic valve sclerosis].

The patient was a 23-year-old woman. She was the product of a full-term pregnancy and normal delivery. At age 3, she was observed to have eruptions on the face and extremities. Gait disturbance and abnormal posture appeared when she was 17-year-old. Mental deterioration followed several years later, and these symptoms progressed gradually. On examination at age 23, mixture of hyperpigmented and hypopigmented macules were observed on the face and the dorsal aspects of the extremities. We diagnosed her skin lesion as dyschromatosis symmetrica hereditaria (DSH) based on dermatological findings, normal minimal erythema dose and normal unscheduled DNA synthesis of her skin fibroblasts. Neurologically, she showed moderate mental deterioration, dystonic posture, dystonic and spastic gait, and generalized hyperreflexia. Laboratory examinations, including parathyroid function, were normal. Brain CT scan revealed severe symmetrical calcifications in the basal ganglia, cerebral white matter, and dentate nucleus. She also showed aplasia of dental root and aortic valve sclerosis. Her father also revealed the same clinical features including skin lesion, movement disorder, mental deterioration, and severe aortic valve calcification. So we diagnosed this patient as familial idiopathic brain calcification associated with DSH, aplasia of dental root, and aortic valve sclerosis. Constellation of these clinical features does not match any previously established type of familial idiopathic brain calcification or hereditary dystonia. However, Patrizi et al reported a patient with DSH associated with torsion dystonia who was very similar to our patient. We propose that our patient and the patient reported by Patrizi et al construct a distinct clinical entity in familial idiopathic brain calcification or hereditary dystonia.