[Three patients with weight loss as a result of sarcoidosis presenting as liver disease]. / Drie patiënten met gewichtsverlies door sarcoïdose, zich uitend als leverziekte.

Sarcoidosis presenting as a liver disease is uncommon. Hepatic sarcoidosis was diagnosed in three male patients aged 80, 64 and 69 years. They all presented with aspecific symptoms such as weight loss. Further investigation revealed liver disease, and liver biopsies demonstrated the presence of non-caseating granulomas. However, non-caseating granulomas can be associated with a great number of disorders and are therefore not specific. Other causes were excluded before the diagnosis of hepatic sarcoidosis was established with reasonable certainty. The diagnosis was finally confirmed on the basis of medical history, laboratory tests and histology. Sarcoidosis presenting as symptomatic liver disease can be treated with corticosteroids and probably with ursodeoxycholic acid as well. These three patients were treated with corticosteroids. The first patient died a year later from a cerebral infarct, the second one after a few months from a (non-sarcoidotic) cerebral haemorrhage and the third one after eight years from hepatic failure.

Biological Suppression of Seedborne Fusarium spp. During Cold Stratification of Douglas Fir Seeds.

Fusarium spp. are important soil- and seedborne pathogens of Douglas fir (Pseudotsuga menziesii) in conifer seedling nurseries. We investigated the effects of culture media and cold stratification on isolation of Fusarium spp. from three Douglas fir seedlots and tested whether the numbers and species mixtures found on stratified seeds could cause disease. Nearly all cold-stratified seeds plated on three semiselective culture media yielded Fusarium spp., including F. avenaceum, F. culmorum, F. lateritium, F. moniliforme, F. poae, F. proliferatum, F. sambucinum, F. solani, and F. tricinctum. Species composition did not differ significantly among the media. Isolation of Fusarium spp. from seeds plated on Komada's medium (pH 6.8) at various stages of imbibition and cold stratification progressively increased from 10 to 22% to 65 to 100%. When stratified seeds were planted in conditions conducive to disease development, however, little disease attributable to Fusarium spp. resulted. A subsequent study was conducted to determine whether a biological control agent applied during imbibition could reduce the proliferation of Fusarium spp. during stratification. Unstratified Douglas fir seeds were imbibed for 24 h in a suspension of Pseudomonas chlororaphis isolate RD31-3A, a rifampicin-resistant fluorescent pseudomonad with previously demonstrated biocontrol activity against F. oxysporum. This treatment reduced the proliferation of Fusarium spp. during cold stratification without significantly affecting subsequent seed germination. The greatest reduction in poststratification populations of seedborne Fusarium spp. was achieved when preimbibition treatment with hydrogen peroxide was followed by seed imbibition in live bacteria. Seed imbibition in bacterial suspensions may be an effective means to deliver biological control agents to Douglas fir seeds.

The Opitz hypertelorism-hypospadias syndrome. Further delineation of the spectrum of clinical findings.

In this paper we report three male patients with the Opitz hypertelorism-hypospadias syndrome. In addition to the typical morphological findings, signs of cerebral palsy related to dysmaturity and perinatal adaptation problems were present in two of them. This illustrates that this syndrome is a true multiple congenital anomaly/mental retardation MCA/MR syndrome with great variability in expression of clinical symptoms.

The Brachmann-de Lange syndrome in two siblings of normal parents.

In this report we describe two male siblings with typical Brachmann-de Lange syndrome. Both presented a severe form of this MCA syndrome, and died at the age of 3 months and 3 weeks, respectively. Family history was completely negative, parents were normal, and prometaphase chromosome studies failed to reveal a chromosomal basis for this unique malformation syndrome.

Mental retardation, deafness, skeletal abnormalities, and coarse face with full lips: confirmation of the Fountain syndrome.

We describe 3 moderately to severely mentally retarded males (2 brothers and 1 isolated patient) with congenital deafness due to an anatomical inner ear anomaly, the same manifestations that were present in the 4 sibs reported by Fountain [1974]: skeletal abnormalities with broad, stubby hands and feet and hyperkyphosis, and a peculiar "coarse" face with swelling of the subcutaneous tissue, particularly of cheeks and lips. According to the present observations early-onset, generalized seizures can be added to the symptom complex of this autosomal recessive trait.

A genetic-diagnostic survey in an institutionalized population of 173 severely mentally retarded patients.

In this report we summarize the findings in a genetic-diagnostic survey of an institutionalized population of 173 severely mentally retarded patients. The etiological study was based on a clinical genetic approach with special attention for dysmorphology and neurological findings. A constitutional disorder, as the direct cause of the severe mental handicap, was found in 75 patients (43.35%). A detailed survey of the different data and findings are given, and compared with the results of previous studies.

The Borjeson-Forssman-Lehmann syndrome. A family study.

The propositus of this report presents a peculiar dysmorphic syndrome associated with severe mental retardation and epileptic attacks. Morphological stigmata include a round, fatty face with large, somewhat protruding tongue, large normally formed ears, relative microcephaly, abundant abdominal fat, dwarfism with hyperkyphosis and short neck. Analogous phenotypic abnormalities were present in the mother and a maternal cousin. The clinical and familial findings in this apparently rare mental retardation syndrome with apparently X-linked dominant or autosomal dominant inheritance with variable expression and penetrance are discussed.

Partial fra(X) phenotype with megalotestes in fra (X)-negative patients with acquired lesions of the central nervous system.

We describe 3 men with acquired lesions of the central nervous system (one male with tumor of the third ventricle, two males with peri- or postnatal accidents). In all three patients macroorchidism was associated with facial characteristics similar to those found in fra(X) males, but they were fra(X)-negative. The finding of megalotestes associated with a partial fra(X) phenotype in the present patients and, more particularly, the documentation of a hypothalamic tumor in the first patient, suggests that a specific hypothalamic lesion in fra(X) males is responsible for some of their manifestations.

Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1----p22).

A 24-year-old female with severe mental retardation, congenital malformations and dysmorphic features is described. 8p trisomy due to a de novo inv dup(8) (p21.1----p22) was found in her karyotype. Other published cases with 8p trisomy are reviewed.