Learn More
Seventy-five children treated for craniopharyngioma between 1973 and 1994 were studied to demonstrate which pre- and intraoperative factors were indicative of a poor outcome as defined by a quantitative assessment of morbidity. This involved a retrospective review of 65 patients and a prospective study of 10 patients focused on clinical details and cranial(More)
OBJECTIVE To quantify the extent of hypothalamic damage after surgery for craniopharyngioma using magnetic resonance imaging (MRI) and to relate the findings to changes in body mass index (BMI). PATIENTS Sixty-three survivors (36 males, 27 females) of childhood cramopharyngioma were treated surgically between 1973 and early 1994. METHODS Cranial MRI was(More)
Isolated glucocorticoid failure associated with achalasia of the cardia is described in two pairs of siblings in separate families. Defective tear production is also present in three of the patients, and one shows other signs of autonomic dysfunction. Two other families with adrenal insufficiency and achalasia are known. This unusual association probably(More)
The putative ACTH receptor gene has been identified on the basis of its tissue specific expression, structure, and limited expression data. We have expressed this gene in COS-7 cells and measured cAMP production in response to ACTH. An EC50 of 5.5 x 10(-9) M for ACTH (1-24) was determined. The S74I mutant ACTH receptor gene that associates with the syndrome(More)
The records of 59 children with craniopharyngioma first treated between 1960 and 1980 were reviewed. There was a high incidence of postoperative growth hormone deficiency (43 of 43), andrenocorticortopin deficiency (26 of 36), thyrotrophin deficiency (13 of 20), gonadotrophin deficiency (15 of 16), and diabetes insipidus (44 of 58). Fifteen patients have(More)
This paper describes the progress of two previously reported brothers with familial glucocorticoid deficiency, achalasia of the cardia, and alacrima. In their early 'teens both boys developed polyneuropathy with sensory, motor and autonomic components, Parkinsonism, and signs of both dorsal column and pyramidal tract damage. The older boy also showed signs(More)
The clinicopathologic and radiologic features of 12 children with complete and incomplete forms of Drash syndrome are reported. Their common denominator was a nephropathy. Four had the full triad, consisting of nephropathy, Wilms tumor, and genital abnormalities; five had nephropathy and genital abnormalities, and three had nephropathy and Wilms tumor. Of(More)
Familial benign hypercalcemia (FBH) and neonatal hyperparathyroidism (NHPT) are disorders of calcium homeostasis that are associated with missense mutations of the calcium-sensing receptor (CaR). We have undertaken studies to characterize such CaR mutations in FBH and NHPT and to explore methods for their more rapid detection. Nine unrelated kindreds (39(More)
We describe 2 karyotypically male infants with terminal deletion of 10q and mental retardation, multiple phenotypic anomalies and abnormal genitalia. One [karyotype 46,XY, del(10)(q26.1)] had female external genitalia; the other [karyotype 46,XY,-10,+der(10)t (10;16)(q26.2;q21)] had an intersex phenotype. Of 8 males previously reported with terminal 10q(More)