Endophthalmitis due to Salmonella typhimurium.

A 1-year-old female patient is described who suffered from sepsis and endophthalmitis due to Salmonella typhimurium. This Salmonella species rarely causes septicemic syndrome or focal infection of body organs. As far as we know this is the first case report of endophthalmitis caused by S typhimurium despite its high frequency among Salmonella infections not caused by S typhi.

Trigonocephaly: a new familial syndrome.

Trigonocephaly was found in six relatives through three generations of one family. The propositus was ascertained at birth because of omphalocele. In addition to trigonocephaly, he had minor ear, vertebral, and genital abnormalities.

Unilateral radial aplasia and trisomy 22 mosaicism.

A child with unilateral radial aplasia, asymmetry, other malformations, and severe physical and mental retardation is reported. In blood and bone marrow cultures a low mosaicism for trisomy 22 was found. In a few cells a chromosome 22 was missing.

Normal psychomotor development in a child with mosaic trisomy and pericentric inversion of chromosome 9.

A female infant with trisomy 9 in 58% of her cells is reported. Multiple congenital malformations were present, but she had normal psychomotor development. A pericentric inversion involving a portion of the centromeric heterochromatin of chromosome 9 was identified in the patient and her mother.

Asplenia and polysplenia syndromes with abnormalities of lateralisation in a sibship.

In the family presented here the first child had asplenia syndrome with cor biloculare' transposition of the great vessels, pulmonary stenosis, and anomalous pulmonary venous drainage. Another sib had situs inversus with polysplenia syndrome, including very similar cardiovascular defects and biliary atresia. The possibility that these two syndromes, namely asplenia and polysplenia, are different manifestations of a similar defect in the normal asymmetrical development of internal organs is discussed.

The genetics of the aryl sulfatase A locus.

A genetic analysis was performed in an isolate in which metachromatic leukodystrophy (MLD) and aryl sulfatase A (ASA) pseudodeficiency are relatively frequent. The frequency of matings at risk and the frequency of ASA pseudodeficiency among parents of MLD patients are compatible with allelism between the gene determining MLD and the gene determining ASA pseudodeficiency. Two independent pedigrees including MLD patients and ASA-deficient healthy individuals also fit the model of allelism.

Early motor development in metachromatic leucodystrophy.

Our 6 patients, and a review of 61 others, showed that in most children with late infantile metachromatic leucodystrophy there was a delay in independent walking. This finding has not been mentioned in descriptions of the typical course of the disease and seems to be its earliest clinical manifestation.

49,XYYYY. A case report.

A 14-month-old boy with a 49,XYYYY karyotype is reported. The physical examination revealed unusual facial features, brachydactyly with clinodactyly, limitation of supination at the left elbow, and inguinal hernia. Radiological abnormalities of the skeleton and urinary tract were present, and the developmental examination showed a DQ of 70.

Metachromatic leukodystrophy in the habbanite Jews: high frequency in a genetic isolate and screening for heterozygotes.

A very high incidence of late infantile metachromatic leukodystrophy (MLD) (1/75 live births) was found in the Jewish Habbanite community which constitutes a genetic isolate of about 1,000-1,200 individuals. Screening in this population for aryl sulfatase A (ASA) levels in married adults revealed a carrier frequency for MLD of 17% and identified six couples of whom both partners were heterozygotes (6% of screened couples). In three pregnancies of these couples, prenatal diagnosis for the detection of ASA in the fetus was performed.

Triple mosaicism 45,XY,--18/46, XY/47,XY,+18.

A patient with symptoms clinically resembling Edwards's syndrome is presented. Cranial asymmetry, thoracic and lumbar hemivertebrae, and an additional rib were the unusual features. The cytogenetic studies revealed the coexistence of three separate cell lines with 45,XY,--18/46,XY/47,XY,+18 complement.

Pure trisomy 17p in 60% cells.

A patient with pure trisomy of the short arm of chromosome 17 in 60% of the examined cells is reported. She presented a variant chromosome 1 with partial pericentric inversion and increased centromeric heterochromatin in one chromosome 17. The cytogenetic findings are discussed.

Role of fetal adrenal glands. A contribution to the etiology and mechanism of fetal pulmonary maturation.

The role of fetal adrenals in the maturation of fetal lungs is not clear as yet. The anencephalic baby, with rudimentary adrenal glands, may be considered an excellent model for the study of this subject. The maturation of fetal lungs was determined in 3 anencephalic monsters and in 2 microencephalic babies.

Latent viruses and Bell's palsy in children.

4 children with unilateral facial palsy--Bell's palsy (BP)--had serological evidence of primary infection with Epstein-Barr virus (EBV). Concomitant infection with cytomegalovirus (CMV) was demonstrated in 1 child while in all 4 children a rise in antibody titers to an additional one or two viruses was demonstrated. The viruses involved were herpes simplex, CMV and adenovirus which are latent in humans.

Uveitis and ophthalmoplegia complicating chickenpox.

Two cases of unilateral uveitis which appeared in association with chickenpox are presented. In one of them internal ophthalmoplegia was seen. Possible pathogenic mechanisms are discussed.

LH-RH and HCG studies in a Turner phenotype male (Noonan's syndrome). A case report.

LH-RH and HCG stimulation tests were performed in a prepubertal 13-year-old boy with Noonan's syndrome. The basal plasma LH (0.8 mIU/ml) was normal and FSH (2.

Failure of determination of fetal lung maturation due to false-negative lecithin/sphingomyelin ratio in a case of pierre robin syndrome.

A case is reported of a baby with Pierre Robin syndrome born at term with adequate lung maturity. The evaluation of fetal lung maturity before birth by means of the lecithin/sphingomyelin ratio and foam test in the amniotic fluid revealed immaturity of the lungs. Examination of the tracheal aspirate following delivery, however, showed adequate lung maturity in the neonate.