Chinese Medical Journal

Chinese Medical Journal, 74: 75-80, January-February, 1956.

LAURENCE-MOON-BIEDL SYNDROME REPORT OF TWO CASES

Wu Hou-CHANG (22=) Department of Ophthalmology, Fifth Municipal Hospital, Shanghai

Laurence-Moon-Biedl syndrome is a combination of the following manifestations: pigmentary degeneration of the retina, mental retardation, obesity, hypogenitalism and polydactylism. It occurs in both sexes, but more frequently in males. Its incidence is markedly familial and is found chiefly among the white races although there have been Japanese and Egyptian cases. In 1942 Snell(1) reported 1 case in a 13 year old black girl. In China, no case hitherto has been reported. According to Radner(2) the number of cases reported in the literature up to 1940 was about 200. Sixty-eight cases were added between 1940 and 1951(3). In regard to cases of complete syndrome, Warkany and others(4) in 1937 analyzed 102 cases and found 24 with all the five symptoms.

’ REPORT OF CASES

Case 1. The patient, a 15 year old boy, came to the clinic on December 10, 1951. As a child he was frequently ill. He had a fixed gaze and seemed always staring. His eyelashes were abnormally long. He had curly hair and was fat and short in stature. When 2 or 3 years old he could not see things placed at the lower part of the visual field. His eyesight became gradually worse and he saw poorly at night. In the daytime, he could see only things close to his eyes. Several physicians were consulted but they could do nothing for him. In the spring of 1951 he was given 100 subcutaneous injections of 1 ce placenta extract, after which there was some improvement of vision.

Family history. There was no history of consanguinity with the parents or among near relatives. One of the patient’s younger brothers (Case 2) had the same trouble. Another younger brother aged 15 and a sister aged 13 were both normally developed.

Physical examination. Height 182 cm. Weight 37.5 kg. The patient was short and fat and showed prominence in the nipples and the pelvic region. The heart and lungs were normal, and the extremities showed no abnormalities except that the toes were somewhat flat. He had curly hair. His mentality was low. The genitalia was under-developed (Figs. 1 and 2) like that of a newborn child, the right testicle was absent.

Eye examination. Some of his eyebrows were 2 cm long, his eyelashes were 1.5 to 2 em long. When he fixed with both eyes, there was deviation toward the right side. External ocular findings were normal. In both fundi bone-corpuscle-like pigment patches could be seen scattered throughout the retina. There were no demonstrable changes in the retinal vessels and optic disk. In the macular region of both eyes there were well-defined and irregular-shaped whitish patches