Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features.

Whereas in the great majority of autosomal duplications/deficiencies a clinically recognizable dysmorphic syndrome is present, distal 3p duplication is not associated with major dysmorphic signs. We present the clinical data and molecular cytogenetic findings in two non-related patients. Diagnosis was made in a female child at the age of 5 months because of psychomotor retardation and slight dysmorphism. She also presented hydronefrosis and develops no speech at the age of almost 4 years. Her partial trisomy is the result of an inverted duplication 3p22-->3pter (dup(3)(pter-->p26::p22(p26::p26-->ter)). An adult woman was diagnosed at the of 80 years only on the basis of mental retardation and poor speech development, but without evident dysmorphism. In this patient the partial 3p trisomy is the unbalanced product of a 3p/17p translocation: t(3;7)(p253;p133).

Unusual growth within a meningioma (leukemic infiltrate).

Intracranial meningiomas are generally slow-growing neoplasms. Symptoms depend on their critical intracranial location. The authors describe a case of rapidly enlarging meningioma that became symptomatic as a result of invasion by leukemic cells at the time of a blastic crisis in the context of chronic myeloid leukemia. Infiltration of an intracranial meningioma by cells from extracranial malignant neoplasms is a rare event. Even though central nervous system (CNS) or meningeal involvement is common in some hematologic malignancies, this is, to the best of our knowledge, the first report of invasion of an intracranial meningioma by leukemic cells.

Docetaxel-induced subungual hemorrhage.

Docetaxel (RP 56976 or Taxotere), a semisynthetic drug belonging to the family of taxoids, is a new chemotherapeutic agent used in phase II trials for breast, ovarian and lung cancer. We report 2 cases of subungual hemorrhages, which, to our knowledge, have yet to be cited in association with the use of docetaxel. Although not incapacitating, the patient should be made aware of the potential risk of this drug reaction.

Distinct facial appearance with nasal hypoplasia, constipation, severe mental retardation and hypotonia in two unrelated young males.

In this report we describe two unrelated young males with severe mental retardation, persisting hypotonia, and constipation. A maternal uncle of one of these two boys died at the age of 18 months and presented the same clinical symptoms. The triad mental retardation, hypotonia, constipation is a characteristic finding in the FG syndrome, an X-linked mental retardation syndrome. At the present time, there is increasing evidence that the FG syndrome-phenotype may be present in different XLMR conditions, e.g. the fragile X syndrome. In addition to the triad severe mental retardation, hypotonia, constipation, the present two male index patients had a characteristic facial appearance with nasal hypoplasia, relative microcephaly and pre- and postnatal overgrowth. The question is raised whether the present two males are examples of a specific entity within the FG-syndrome-like phenotype.

Bronchial responsiveness to inhaled metabisulfite in asthmatic children increases with age.

Inhaled bisulfite (HSO3) aerosol produces bronchoconstriction in asthmatics but not in normals. This effect is probably due to local formation of SO2 which stimulates vagal afferents in the airway mucosa, and gives rise to bronchoconstriction that is partly due to a cholinergic reflex. Metabisulfite (MBS) produces bronchoconstriction in most adult asthmatics, but its effect in children has received little attention. The present study was done to assess MBS-induced bronchoconstriction as a function of age in asthmatic children, and to compare MBS responsiveness with the response to inhaled metacholine (MCH), which is commonly used for bronchoprovocation testing. In 36 children with moderate asthma, selected to cover the age range between 3 and 20 years, we compared airway responsiveness to MBS and MCH, expressed as the provocative dose that causes a 20% fall in baseline forced expiratory volume in 1 sec (FEV1, PD20). We also measured the PD20 to MBS after pretreatment with the anticholinergic ipratropiumbromide, to estimate the noncholinergic component of the response. After bronchial provocation with MCH, a PD20 was reached in 32 children, and no significant relation of PD20 to age was found. A PD20[MBS] was seen in only 17 patients, and more frequently in older children. There was a significant negative correlation between age and PD20[MBS]. Ipratropium pretreatment reduced the response to MBS in 14 of the 17 children who had a PD20[MBS]. The PD20[MBS] after ipratropium pretreatment was also significantly negatively related with age. This suggested that the increased prevalence of MBS responsiveness was due to an increase of the noncholinergic component of the response.(ABSTRACT TRUNCATED AT 250 WORDS)

Possible platelet contribution to pathogenesis of transient neonatal hyperammonaemia syndrome.

The pathogenesis of the transient neonatal hyperammonaemia syndrome is largely unknown. The role of platelet activation was investigated in three preterm infants with this syndrome by non-invasive methods. In all three infants, urinary concentrations of beta-thromboglobulin and 11-dehydrothromboxane B2 levels were much higher during the hyperammonaemia than those in ten control preterm infants. It is possible that transient platelet activation occurs in the portal system of these infants, thereby causing the hyperammonaemia.