A patient with angioimmunoblastic lymphadenopathy (AILD) is presented. Manifestations of the disease appeared after short-term treatment with oxprenolol hydrochloride. Following treatment with ...prednisone, the patient remained in remission for 25 months. The disease relapsed following reuse of oxprenolol hydrochloride. Severe pancytopenia due to bone marrow involvement by AILD and myelofibrosis led to a fatal outcome. The association of AILD and myelofibrosis has been rarely encountered and is hereby discussed. In addition, the possible relationship between AILD and oxprenolol hydrochloride is considered.
A nationwide study of patients hospitalized for ocular injuries was conducted in Israel during the years 1981 through 1983, with the participation of 17 ophthalmic departments. The study comprised ...2276 patients (2416 eyes), 47% of whom were children. The male-female ratio was 4.3:1. Bilateral injuries occurred in 140 patients, with children sustaining the most severe injuries. Ocular injuries occurred most frequently at home, and children at play were most vulnerable. Most patients retained good vision, 3.7% lost vision totally, and 2% of the eyes had to be enucleated.
We report on a baby girl with congenital muscular dystrophy (CMD) with neurological abnormalities ("CMD Plus" condition), who also had Hirschsprung disease. This association may indicate a category ...of congenital muscular dystrophy with involvement of the visceral nervous system. We propose that Hirschsprung disease be added to the list of anomalies pertaining to the "CMD Plus" array, and that CMD should be considered when Hirschsprung disease occurs with central nervous system anomalies.
Walker-Warburg syndrome is a lethal, autosomal recessive disorder characterized by anomalies of the central nervous system and eye. Typical findings include hydrocephalus, agyria, retinal dysplasia, ...cerebellar dysgenesis, anterior chamber dysgenesis, and encephalocele. Recently, the phenotypic spectrum has been expanded to include congenital muscular dystrophy. Two sibs with Walker-Warburg syndrome are reported. One sib had congenital glaucoma and hydrocephalus. The other sib had hydrocephalus, microtia, absent auditory canals, and pale retinas, barely within the phenotypic spectrum of the disorder. Elevation of muscle enzymes was consistent with the diagnosis of Walker-Warburg syndrome.
A rare brain tumor (spongioblastoma polare) occurring 7 years after treatment of neuroblastoma stage IV S is reported. The literature concerning the occurrence of a second cancer in children exposed ...to mutagenic therapy for their initial tumor is reviewed, and genetic and environmental factors are discussed. Diminishing aggressiveness of the treatment in childhood cancer with good prognosis should be considered. Continuous follow-up of children cured of cancer is warranted.
We report on a new case of duplication of the proximal part of the long arm of chromosome 21. The proposita presents normal mental development, no trisomy 21 manifestations; on the contrary, she had ...a few monosomy 21-like stigmata. She gave birth to a severely malformed infant with a pattern of malformations suggesting a partial 21-monosomy syndrome, but with a 46,XY normal karyotype in his peripheral blood lymphocytes. The findings are explained in the following way: the infant probably had originally a 47,XY,+21q- karyotype like his mother. Post zygotic nondisjunctional events produced a prevalent 46,XY,21q- line responsible for the severe malformations and the normal 46,XY line found in his blood lymphocytes.
From Field and Study Lofberg, Lila M.; van Rossem, A. J.; Skinner, M. P. ...
The Condor (Los Angeles, Calif.),
09/1933, Volume:
35, Issue:
5
Journal Article
PDF
