Early second trimester prenatal diagnosis of Neu-Laxova syndrome.

Neu-Laxova is a rare, uniformly lethal, autosomal recessive condition with characteristic limb posturing, facial dysmorphic features, and central nervous system abnormalities. Forty-two cases of Neu-Laxova syndrome have been reported, with only four of these diagnosed prenatally. Three of the four cases were diagnosed at or after 32 weeks' gestation. The fourth case was diagnosed at 22 weeks' gestation in a patient who was followed with serial ultrasound studies due to having a prior affected child. At 19 weeks' gestation, we present the earliest reported prenatal diagnosis of Neu-Laxova syndrome in a primigravida with a non-informative family history.

Osteogenesis imperfecta and campomelic dysplasia: difficulties in prenatal diagnosis.

The classic features of osteogenesis imperfecta and campomelic dysplasia typically are so specific that these two forms of skeletal dysplasia are among the few that can be diagnosed in the second trimester of pregnancy. We report a series of seven examples of osteogenesis imperfecta and one example of campomelic dwarfism to illustrate the difficulty of differentiating these two disorders in utero. The prenatal sonographic findings in three of the osteogenesis imperfecta cases mimicked campomelic dwarfism, whereas the case of campomelic dwarfism was antenatally diagnosed as osteogenesis imperfecta.

Research in consultation-liaison psychiatry: the Toronto General Hospital experience.

Research that has developed in association with the consultation-liaison service at the Toronto General Hospital is reviewed in this paper. The value of systematic investigation in the consultation-liaison setting is addressed. Such approaches may be necessary to establish consultation-liaison psychiatry as a theoretical discipline which can advance knowledge in addition to enhancing patient care.

Capgras syndrome, de Clérambault's syndrome, and folie à deux.

A woman with Capgras and de Clérambault's syndromes transmitted persecutory, erotic, and somatic delusions to her son in a folie à deux. Capgras and de Clérambault's syndromes appear together more commonly than is apparent in the literature. Review of these cases shows a strong association with severe affective disorder.

Xanthogranulomatous pyelonephritis: sonographic--pathologic correlation of 16 cases.

Xanthogranulomatous pyelonephritis (XGP) is an uncommon renal inflammatory disease characterized by the destruction and replacement of normal parenchyma by sheets of lipid-laden histiocytes. The process may be diffuse or segmental. Sonograms of 16 cases of XGP (13 diffuse, three segmental) were retrospectively reviewed and correlated with their pathologic findings. The typical case of diffuse XGP demonstrates the following: renal enlargement, replacement of normal architecture by multiple fluid-filled masses, pelvic contraction or only moderate separation of the central echo complex, and a pelvic calculus. Although most cases have a large staghorn calculus, its sonographic demonstration may be difficult, perhaps as a consequence of peripelvic fibrosis. Atypical cases of diffuse XGP mimic pyelonephrosis with massive hydronephrosis and fluid--debris levels. In these atypical cases, a staghorn calculus is often conspicuously absent. Segmental XGP is recognized as an area of parenchymal destruction surrounding one calyx or one pole of duplication. Segmental XGP should be distinguished from focal xanthogranulomatous inflammation of the kidney, which is a distinct pathologic entity (cortical location, no pelvic communication, absent pyelitis). When typical gross pathologic features are present, sonography should make possible accurate identification of diffuse and segmental XGP.