| thrombocytopenia and thrombosis occurring as a direct consequence of heparin therapy are being recognized with increasing frequency in recent years. Current conceptions of the pathophysiology of this syndrome are explained, together with the mechanisms leading to the clinical features. The clinical spectrum of H.I.T.T.S. is widening, but there are diagnostic problems arising from a lack of awareness of the syndrome by some practising clinicians. Many laboratory methods for detecting H.I.T.T.S. have been used, but particular attention should be given to the method of platelet aggregometry. Finally, problems encountered in diagnosis and management of this condition are discussed. ( info) |
10002/17433. Syndrome of camptodactyly, ankyloses, facial anomalies, and pulmonary hypoplasia (Pena-Shokeir syndrome): obstetric and ultrasound aspects. Two siblings with Pena-Shokeir syndrome are described. This syndrome consists of polyhydramnios, intrauterine growth retardation, short umbilical cord, perinatal death, facial abnormalities, limb abnormalities including arthrogryposis, and lethal pulmonary hypoplasia. The mode of inheritance is most likely autosomal recessive. prenatal diagnosis was made in the second pregnancy with ultrasound performed at 26 weeks' gestation. The roles of fetal akinesia and fetal apnea in the production of the various manifestations of the syndrome are detailed, and the possibility of early prenatal diagnosis is considered. ( info) |
10003/17433. giant lymph node hyperplasia with osteoblastic bone lesions and the POEMS (Takatsuki's) syndrome. A 38-year-old black man with giant lymph node hyperplasia (GLH), osteoblastic lesions, and the poems syndrome (polyneuropathy, organomegaly, endocrinopathy, M protein, skin changes) was treated at the University of chicago hospitals. The patient had hepatosplenomegaly and generalized peripheral lymphadenopathy. Endocrinologic abnormalities included decreased testosterone with elevated luteinizing hormone and follicle-stimulating hormone, as well as hyperprolactinemia and possible hypothyroidism. biopsy of a right femoral lymph node revealed GLH, and an osteoblastic pelvic lesion showed a marked lymphoplasmacytic infiltrate. By immunohistochemical techniques, plasma cells in the lymph node and osteoblastic lesion were polyclonal. A polyclonal hypergammaglobulinemia was present. The lymph node T-lymphocyte population showed a decreased helper-to-suppressor cell ratio. Other findings included thickening of the skin, finger clubbing, and anasarca. A severe sensory-motor polyneuropathy was the major factor contributing to the patient's death. The association of GLH, osteoblastic bone lesions, and the poems syndrome has been noted previously in japan; however, the authors are unaware of reports on Western patients who had this combination of clinical and laboratory findings. ( info) |
| estradiol-producing ovarian cysts were found in four very preterm females at a postconceptional age that slightly preceded the expected time of delivery. The serum concentration of estradiol was very high. In the first infant one cystic ovary was removed surgically. When cysts appeared in the other ovary, the girl was treated with medroxyprogesterone acetate. The serum concentration of estradiol then fell and the cysts disappeared. medroxyprogesterone acetate treatment was given also to the second girl, who had a high and rising serum concentration of estradiol. In infants 3 and 4 the cysts disappeared and the serum estradiol normalized spontaneously. Measurements of serum concentrations of luteinizing hormone and follicle-stimulating hormone before and after an iv injection of luteinizing hormone releasing hormone showed that preterm girls with early estradiol-producing ovarian cysts have a postpubertal type of response to luteinizing hormone-releasing hormone. When the test is repeated some months later they have a prepubertal type of response, which is normal for their age. ( info) |
10005/17433. Unusual cause of short stature. A 24-year-old man evaluated for paresthesias and short stature was found to be hypocalcemic on initial presentation. Further evaluation showed that he had a low-normal parathormone level by amino-terminal assay, medullary stenosis of the long bones, and multiple ophthalmologic abnormalities. The remainder of his pituitary function, including growth hormone response to insulin-induced hypoglycemia, was normal. As no family history of similar findings was evident, a sporadic case of Kenny's or Kenny-Caffey syndrome was diagnosed. He became normocalcemic in response to vitamin d and calcium carbonate therapy. The results of testing in this patient and the findings in other patients previously described with the Kenny-Caffey syndrome are reviewed. ( info) |
10006/17433. prenatal diagnosis of Pena-Shokeir syndrome type 1. This report describes the sonographic diagnosis of the Pena-Shokeir syndrome type 1 during the second trimester of a pregnancy which was electively terminated. The mother had previously delivered a macerated, hydropic infant with multiple congenital anomalies. The diagnosis was based on the recurrence of hydramnios and nonimmune hydrops in a fetus with normal chromosomes, normal amniotic fluid alpha-fetoprotein, normal fetal echocardiography, and lack of evidence of a lysosomal storage disease. These observations suggest that serial sonography during the second trimester in pregnancies at risk may allow for the prenatal diagnosis of the Pena-Shokeir syndrome type 1. Without further experience, it would not be prudent to suggest to couples at risk that the prenatal diagnosis of a recurrence can be assured with a high degree of accuracy. ( info) |
10007/17433. Microphthalmia--prenatal ultrasonic diagnosis: a case report. Prenatal real-time ultrasonographic diagnosis of microphthalmia is presented. Diagnosis was made at 18 weeks' gestation in a fetus of a patient with a previous infant affected with the syndrome of cryptophthalmia with absence of septum nasi and ambiguous genitalia (fraser syndrome). Recognition of microphthalmia as a part of fraser syndrome and the easy visualization of fetal facial bones and orbits in the second trimester made the diagnosis possible. ( info) |
10008/17433. A syndrome of chronic renal failure and XY gonadal dysgenesis in young phenotypic females without genital ambiguity. A case of XY gonadal dysgenesis with renal failure is presented. Diagnosis was delayed four years post renal transplantation. A uterus, fallopian tubes, and vagina were present with a combined gonadoblastoma and dysgerminoma found in the right streak gonad. Six other similar cases have been reported, including concordance in a pair of monozygous twins. Because of the risk of gonadal malignancy, the serum FSH concentration should be determined in phenotypic females with primary amenorrhea and chronic renal disease. Due to a physiologic reduction in the serum FSH concentration in agonadal individuals between 5 and 11 years of age, a karyotype may be required to detect affected individuals during this interval. Gonadectomy should be performed in all cases of XY gonadal dysgenesis. A urinalysis and serum creatinine concentration should be obtained in girls presenting with XY gonadal dysgenesis. The serum FSH concentration and karyotype should be determined in females presenting with congenital nephrotic syndrome. ( info) |
10009/17433. prenatal diagnosis of Weyers syndrome (deficient ulnar and fibular rays with bilateral hydronephrosis). A fetus with Weyers oligodactyly was studied after a previous sibling had been born with that condition. prenatal diagnosis was undertaken using ultrasound to visualize the long bones, which were found to be severely affected by the condition at 19 weeks of gestation. Most notable were the ulnae and fibulae, which were very short; the fetus had bilateral hydronephrosis. ( info) |
10010/17433. The Pena-Shokeir syndrome: report of nine Dutch cases. We report on nine individuals with the Pena-Shokeir syndrome. Clinical findings are compared with data on patients from the literature. Emphasis is made on genetic background, neuropathological findings, and (in two cases) on prenatal data. Possible pathogenetic mechanisms are discussed. ( info) |