|
 |
| ARTICLE |
|
| Year : 1962 | Volume
: 10
| Issue : 1 | Page : 9-15 |
|
Laurence-Moon-Biedl-syndrome- with 5 case reports in different families
JM Pahwa
Eye Hospital, Sitapur, India
| Date of Web Publication | 18-Mar-2008 |
Correspondence Address:
J M Pahwa
Eye Hospital, Sitapur
India
 Source of Support: None, Conflict of Interest: None  | Check |
 Clinical trial registration None
How to cite this article:
Pahwa J M. Laurence-Moon-Biedl-syndrome- with 5 case reports in different families. Indian J Ophthalmol 1962;10:9-15 |
In 1866, Laurence and Moon reported 4 cases of retinitis pigmentosa with marked night blindness and body changes of dwarfism, hypogenitalism and mental deficiency. Since then additional features have been added-polydactyly and familial incidence by Bardet (1920-1923) adiposo-genital dystrophy by Biedl (1922). The syndrome may not be complete in every case.
A typical case of Laurence-Moon-Biedl syndrome has the pentad of the syndrome with obesity, hypogenitalism, polydactyly, mental retardation and retinal changes of the type of retinitis pigmentosa. In addition to these classical features, microphthalmia, nystagmus, squint, optic atrophy, myopia, ptosis, syndactyly, oxycephaly, deaf mutism, congenital heart disease, genuvalgum or other skeletal anomalies may be occasionally met with. The basic anomaly consists of dystrophy in eyes, genitalia, skeleton, and nervous system and a deranged metabolism.
Approximately 290 cases have been reported so far. Only in a fraction of the reported cases has the complete syndrome been described.
In India cases have been reported by Ram and Rohtagi (1958) and Doraswami (1949). It is curious that all these cases are reported from the South and recently from the North (Nirankari et al 1960) but the present five cases are being described from the central U.P.
| Case Reports | |  |
Case I :-Gauri Shankar, 15 years, Hindu male child was brought to me on 25th. February, 1958 with the complaint of diminution of vision particularly during night, mental deficiency and obesity. On examination he was found to have the typical pentad of Laurence-Moon-Biedl syndrome.
Obesity:--His height was 4' 11" with weight 160 lbs. Adiposity was particularly marked in the face, chest, abdomen and thighs mostly of feminine type. The measurements of the chest, abdomen and around both the thighs were 40", 41" and 45" respectively. [Figure - 1].
Polydactyly :-Both hands had 6 fingers in each and one foot had 6 digits (23 digits). Some of the fingers showed webbing also.
Mental Retardation :-Though he was 1.5 years of age, he was studying only in the third standard. He showed no interest in the environment shown by children of his age. He did not like to mix with children because he was afraid of being teased by them. His photograph in nude could be taken with great difficulty and persuasion. He had ultra-sense ;of discipline and personal hygiene because he would not take anything to eat without having a bath.
Hypogenitalism :-Penis was very small and rudimentary. Testis were very small, atrophic and there were no axillary and pubic hair [Figure - 1].
Retinitis Pigmentosa : His vision was 6/36 partial in both the eves with normal pupils. His night vision was very defective. When he was taken to the dark room, he was simply led because he could not find his way. His mother said that it was more marked since 3 years. Fields could not be taken as patient could not co-operate at all. His fundus showed pale, waxy discs with marked attenuation of vessels and typical picture of retinitis pigmentosa [Figure - 2] with some degenerative changes in the maculae also.
General examination :-There was found to be no other congenital anomaly. Wassermann reaction was negative. His blood, urine, differential white blood cell count, blood cholestrol and blood sugar were all normal. Blood pressure was 100/75. X-ray of the skull showed no abnormality with a normal pituitary fossa. X-rays of both the hands and feet were taken and showed hexadactyly.
Family History:- His father and mother are normal except that the mother had left internal squint. Father is of weak constitution and suffers from asthma. They had six children, 4 sons and two daughters. The patient is the last child and is the only living issue. The first one or the eldest son had hexadactyly and died of Small pox at the age of 3 years, probably he would have exhibited all the signs of this syndrome. Second and third sons, 4th and 5th daughters were all normal but died at very young age few days to nine months after birth due to diarrhoea and bronchopneumonia. There is no family history on the father's side but patient's maternal uncle complained of night blindness.
Case 2:-Subhash Chandra, 10 years, Hindu male child was brought to me on 11th. November, 1958 with the complaint of poor vision particularly during night, since early childhood and steadily getting more and more obese. His weight was 82 pounds with height of 4'-4". A supernumerary digit was present in both the hands and feet (total 24 digits). He was mentally backward with poor memory and. was studying in 2nd. class only. Penis was very small and testis were ill developed [Figure - 3].
The fundus was slightly myopic, tigroid in appearance but showing typical characters of retinitis with bone-corpuscle-pigment along the blood vessels. His vision was:
R.E. with-2.25 sph. and-0.75 cyl. at 90◦ -6/18.
L.E. with-2.75 sph. and-0.5 cyl. at 90° =6/18.
Exact fields could not be taken but they were definitely much constricted. Family history is of significance. He had 2 brothers and three sisters. The first child or eldest brother had 23 digits but died at the age of 8 months because of pneumonia. Second and third are his sisters but are normal. Fourth is our patient who has the typical pentad of Laurence-Moon-Biedl syndrome. Fifth was a girl who had polydactyly (24 digits) but again died of meningitis at the age of 1 year. Last male child who is now 3 years old has a normal external appearance and no extra digits. His eyes, however have not been examined. It is curious that the other two children who showed some affection died at an early age. Father ,and mother are normal.
Routine laboratory investigations were done and were completely unhelpful. Skiagram of the skull did not reveal anything abnormal with normal pituitary fossa.
Case 3:-Krishna Mohan, 10 years, Hindu male child was admitted in the hospital on 18th. April, 1960 with poor vision particularly at night. On examination he was found to be rather dull and mentally backward with a placid and vacant expression. He did not start talking till the age of 6 years. Various milestones of development were delayed and at the age of 7 years when he was sent to school he hardly made any progress. He has obese with selective fat deposition on the hips, abdomen and breast. His weight is 88 lbs. with a height of 4'-2". Measurements of the chest, abdomen and round one thigh were 27", 30½" and 17½" respectively [Figure - 4]. There was no polydactyly.
Hypogenitalism was a prominent feature as the penis and testicles were very small [Figure - 4] No other abnormality was found in any other system of the body.
Vision:-Right eye with
+ 1 D cyl. at 90° =6/18.
Vision:-Left eye with
+ 1.25 D cyl. at 90° = 6/24.
Fundus showed marked choroidal sclerosis and degeneration with pale discs and attenuated arteries [Figure - 5]. The maculae were dull and showed early degenerative changes. Here and there were few streaks of black pigment deposits along the blood vessels. But these pigment deposits did not resemble bone corpuscles. The fields were very much restricted rather these were almost tubular [Figure - 6]. Family history was interesting. He had 6 brothers and 3 sisters and out of these one sister and one brother are living and they are normal. One brother who died at the age of 3 years because of pneumonia had polydactyly (24 digits). Father and mother are normal. Grand father had polydactyly, aunt (father's sister) had polydactyly with sterility.
Case 4 :-Satya Narain, 14 years, Hindu male child was brought to us with the complaints of diminished vision more so during night since 3 years, adiposity and mental retardation since 6 years.
On examination he was found to have the typical pentad of Laurence-Moon-Biedl syndrome. [Figure - 7]. Adiposity was particularly marked on the face, abdomen, chest and thighs mostly of feminine type as seen in Frohlich's syndrome. The measurements of the chest, abdomen and round one thigh were 32½', 32", 20" respectively. His height was 4'-10" with 102 lbs. weight. He had polydactyly (24 digits). Though he was 14 years of age, he could not carry on his studies in the school and even he could not count upto hundred correctly. His speech was rather childlike (Tutlana). His penis and testis were very small with no pubic hair. [Figure - 7].
Vision :
Right eye with-0.5 D sphere =6/24.
Left eye with 2.25 D sphere = 6/60.
Fundus showed typical picture of Retinitis pigmentosa with pale discs and bone corpuscles etc. His fields could not be recorded. Even visual acuity could be seen with great difficulty when we gave him the temptation of giving nice glasses. He is the only living last issue. Out of one son and three daughters who died at the ages of few days to few months, one son had polydactyly. Father and mother are normal.
All laboratory investigations including X-ray of the skull were normal and unhelpful. He was prescribed Priscol and Adaptinol (Bayer) tablets and Placental implantation.
Case 5:-Chhami, 8 years, Mohammedan female child was brought to me with the history of Night blindness on 27th. December, 1960. On examination she was found to be obese (Weight 104 lbs.) with height 3 feet 9 inches [Figure - 8]. The measurements around the chest, abdomen and one thigh were 28", 28" and 16½" respectively. She had twenty three digits i.e. 2 hands and 1 foot had extra digits. In one of the hands this extra digit was tied up in early childhood and had fallen off. [Figure - 8]. She is mentally somewhat sluggish. Her eyesight is poor.
Vision Right eye = 6/60.
Vision Left eye == 1/60.
Vision could not be improved with glasses. She was myopic and had pale discs but typical picture of retinitis pigmentosa is lacking. There is choroidal sclerosis with normal vessels. Left eye has tendency to internal squint, and there is nystagmus in both eyes.
Her parents and uncles are completely normal. Out of the 5 issues, three sons and two daughters, only two daughters and one son have polydactyly. Eldest daughter had 24 digits but died at the age of 2 months. Second daughter is our patient and has 23 digits. Third and fourth are sons and are normal. Last child 2 years is again male and has 24 digits. It was advised to get him examined also.
| Comments | | |
The bodily changes are the result of a dysplasia of two kinds of primitive tissues : (1) The primitive mesenchyme changes which result in the skeletal defects as polydactyly and syndactyly, and (2) epiblastic tissue, which results in changes of diencephalon. There are two theories as to the manner in which the disease is inherited, the first that one gene is responsible for all the defects and the second that the changes are produced by two genes which lie in the same chromosome, one being responsible for the changes in the ectoderm and the other for those in the mesoderm. Sorsby and Cockayne also assure that two recessive genes in the same chromosome determine the syndrome or that it is dependant on some chromosome error such as dislocation or translocation. The variability of manifestation found in those affected is probably due to the action of modifying genes.
Francois and Bello (1952) pointed out the existence of great variation in the ocular manifestations of the syndrome. Fundus changes of a type resembling retinitis pigmentosa frequently occur in this disease. Abnormal pigmentation may be slight or absent, Ellis and Law (1941) and Taylor (1947) have pointed out fundus changes may be of four types; (1) typical retinitis pigmentosa; (2) atypical retinitis pigmentosa, with increased pigmentary disturbance in the central area of the fundus rather than the periphery; (3) macular dystrophy; (4) atypical retinitis pigmentosa combined with macular dystrophy.
In the cases reported here the fundus picture in two cases 3 and 5 were atypical. There was only choroidal and macular degeneration. It is possible that these typical features of tapeto-retinal degeneration may appear later on when the disease is well advanced. A typical history of night blindness with attenuation of blood vessels is enough to warrant a diagnosis of Laurence-Moon-Biedl syndrome provided other features are present. Nirankari and Manchanda (1960) also found atypical fundus picture in all his four cases. In all our cases, mental retardation, obesity and hypogenitalism was a prominent feature but polydactyly was absent in case No. 3 though one of his brothers had 23 digits. It is interesting that all these cases except case 5 were males.
Transmission of the disease is said to be principally by recessive heredity and as said before through polygenetic genes. In two cases 2nd and 3rd there was definite hereditary history but in other three cases, definite heredity was lacking. It is possible the disease may be a mutation, just cropping up occasionally. There was no history of consanguinity of parents in any family.
It is also interesting to note that the affected children, partially or wholly appear to be more vulner-able to infection and seem to die easily.[19]
| Summary | | |
5 cases with the typical pentad of Laurence-Moon-Biedl syndrome are described.
The family history of these cases was carefully gone into and suggests a definite though partial, familial feature, especially polydactyly in other members of the family.
| References | | |
| 1. | Bardet, G (1920) , These de Paris no. 470: (Quoted by Duke-Elder).  |
| 2. | Biedl, A (1922), Deutsch. Med. Wchnschr. 48: 1630 (Quoted by Duke-Elder). |
| 3. | Cockayne, E., Krestin, D. & Sorsby, A (1935), Quart. J. Med. New Series 4: 93. |
| 4. | Doraswami, S (1949), Proc. All India Oph. Soc. 10 : 84 |
| 5. | Duke-Elder Sir S (1940), Textbook of Ophthalmology, Kimpton, London V. 3 P. 2765-2783. |
| 6. | Ellis R.W.B. & Law F. W. (1941), Arch. Dis- child 16 : 105 (Quoted by Duke-Elder). |
| 7. | Elwyn, H. (1947), Diseases of retina, Churchill, London p. 286. |
| 8. | Francois, J. and Bello, D (1952), Ann. Ocul., 185 : 1944, (Abstract by Bahn, C. A.(1953), Am. J. Ophth., 39 : 1020. |
| 9. | Jagannadh Row (1958), JI. Indian Med. Ass, 30 : 90. |
| 10. | Laurence, J. Z. and Moon, R. C. (1886), Ophthalmic Rev. (Quoted by Duke-Elder). |
| 11. | Niranhari M, S., Manchanda SS. & Maudgal M. C. (1960), Am. J . Oph., 49 : 1410-1413 |
| 12. | Ram, D. and Rohatgi, N (1958), Brit, J. Ophth., 42: 372. |
| 13. | Reilly, W (1932) , Endocrinol 16, 337. |
| 14. | Sorsby, A Genetics in Ophthalmology, London. |
| 15. | Snell, A (1942), Arch. Oph. 28: 12. |
| 16. | Solis Cohen's and Weiss, F (1925), Am. J. Med. Soc. 169: 489. |
| 17. | Sorsby, A and Cockayne (1939) Quart. J. Med. New Series 8 : 51. |
| 18. | Taylor, C (1947), Brit. J. Ophth., 31 : 211. |
| 19. | Thygeson, P. (1952), Am. J. Ophth., 35: 750. |
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7], [Figure - 8]
|
Search Pubmed for