Lymphangiography and Chromosome Studies in Females with Lymphoedema and Possible Ovarian Dysgenesis.

In primary lymphoedema, lymphangiography has revealed abnormalities ofthe lymphatics. Kinmonth (1960), in a series of 192 patients, found hypoplasia of the lymphatic trunks in 65%, aplasia in 15%, varicose dilatation in 14 %, and backflow of dye into the lymphatic dermal plexus in 6 %. These findings suggested that primary lymphoedema was due to congenital error in the development of lymphatics. Congenital peripheral oedema occurs in a proportion of patients with ovarian dysgenesis and allied disorders. A history of oedema was obtained in 45 out of 126 patients (35 * 7 %) under the age of 16, but only in 4 of 120 (3 3%) over the age of 16 (Bishop, Lessof, and Polani, 1960); it was present in 9 of the 51 (17 6%) patients reported by Lindsten (1963). The course of oedema in ovarian dysgenesis differs from that of other types of lymphoedema. Thus in primary lymphoedema, oedema is stationary or slowly progressive, while in ovarian dysgenesis it disappears in a few months or years in the majority of cases. Occasionally, however, it persists or recurs at puberty or after administration ofoestrogens or anabolic steroids. In this article we report the result of lymphangiography and chromosomal analysis in six patients with lymphoedema who were phenotypically female and who had clinical evidence of ovarian dysgenesis. Lymphangiography was carried out at St. Thomas's Hospital. Recent advances in the technique of lymphangiography have been published elsewhere (Gough, Guiney, and Kinmonth, 1963) and will not be repeated here. The chromosome analysis, after blood or skin culture, was carried out by one of us (P.E.P.) with the help of other members of the cytogenetics section of the Paediatric Research Unit, Guy's Hospital Medical School. Cases Case 1. (P.R.U. 794). Phenotypic female with congenital lymphoedema ofhands andfeet, webbing of neck. Sex chromosomes XO. Hypoplasia oflymphatic trunks of feet and of superficial lymphatics of legs. Anomalous lymph vessels at ankles. Congenital pitting oedema of hands and feet gradually subsided and disappeared by 3 years. She had been born after a normal pregnancy and delivery, weighing 2,800 g. Her parents and sister were healthy. The diagnosis of mild congenital hypertrophic pyloric stenosis was suspected clinically and supported by visualization of an elongated pylorus on barium meal studies. A brother had had congenital hypertrophic pyloric stenosis, confirmed at operation, and another brother had had the same condition diagnosed on clinical grounds. Her toe-nails were hypoplastic and she had webbing of the neck. At 9 months of age, she was 65 5 cm. tall (3rd percentile) and weighed 6 * 6 kg. (less than 3rd percentile). Chromosomes: number 45; sex chromosome3 complement XO; chromatin negative on nuclear sexing. LYMPHANGIOGRAPHY. At 2 years and 10 months, incisions were made on the dorsum of each foot. A fine spongy network of lymphatics was seen in the subcutaneous tissue. Biopsy of this tissue confirmed the presence of multiple minute lymph vessels without valves. In the normal subject at this site there are three or four small discrete lymphatic vessels running in the subcutaneous tissue, immediately below the skin. Further incisions were made in the skin over the dorsum of the ankles. On the left, several larger but abnormal lymphatics were seen that were too small to cannulate. On the right there were several vessels running superficial to the deep fascia before piercing it. In spite of the quantity of patent blue in the subcutaneous lymphatic plexus, these deep vessels were only slightly coloured, suggesting a poor circulation between the superficial and deep lymphatic systems. With the aid of a dissection microscope, a size 30 hypodermic needle was inserted in one of the vessels on the deep fascia, and 3-5 ml. of ultrafluid Lipiodol (Bengue) were injected.