No abstract

We report on a 5-year-old girl with a male karyotype (46,XY), severe psychomotor and physical retardation, minor anomalies, and female external genitalia with a blindly ending vagina. She has normal adrenal function, prepubertal serum gonadotropin and testosterone levels, which did not rise after hCG stimulation. On abdominal exploration no gonads were found, and only mesonephric and Müllerian remnants. She was HY positive, and no deletion was detected in the Y chromosome using 5 different probes. Although a genetic defect is not excluded, pregnancy complications suggest an environmental insult to the developing testes.

We report on 2 cases of Y; autosome translocations. One is a male with normal external genitalia and 45,X karyotype without evidence of mosaicism or apparent translocation on cytogenetic analysis. In situ hybridization showed that the euchromatic portion of the Y-chromosome is translocated to the chromosome 15. The other case is a clinically trisomy 18 male patient, with modal number of 46, a small metacentric marker with appearance of an i(18p) and cytogenetic and molecular evidence of Y;18 translocation. The occurrence of Y;18 translocation associated with clinical signs of trisomy 18 is reported here for the first time.

The clinical and radiological features of 2 patients with HTLV-1 myelopathy are presented. The mother of 1 patient is a carrier. This is the first report of HTLV-1 infection from Kuwait and the Arabian Peninsula. Both patients were traced to Najaf, a town south of Bagdad in Iraq. Other Middle East cases were reviewed and suggest both a common source and a strong link to our cases.

A Bedouin brother and sister diagnosed with Alström’s syndrome phenotype (MIM 203800) are presented in this report. In addition to the classical criteria of the disease (obesity, diabetes mellitus, early loss of central vision, retinitis pigmentosa and sensorineural deafness), the elder sister showed recurrent attacks of focal dystonia mainly affecting the lower limbs. Variability of expression of the Alström syndrome gene in the diseased sibs is demonstrated by the presence of chronic hepatic disease in the girl against the presence of renal calculi and salt wasting nephropathy in her brother. The association between focal dystonia and Alström’s syndrome has not been previously reported. Although it is tempting to speculate that the described dystonia was part of Alström’s syndrome spectrum, a coincidental association cannot be eliminated.