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|Year : 1983 | Volume
| Issue : 1 | Page : 51-2
"Behr disease". (Report of two cases in one family).
Kumawat DC, Goyal VV
|How to cite this article:|
Kumawat D C, Goyal V V. "Behr disease". (Report of two cases in one family). J Postgrad Med 1983;29:51
Behr disease is a clinical entity characterised by temporal atrophy of the optic disc, muscular spasticity with increased tendon reflexes, pyramidal disturbances, positive Romberg sign, slight ataxia and mental deficiency. Occasionally dysmetria, a positive Babinski sign and talipes caves are present. In 1909, Behr described this clinical entity for the first time, which he called "complicated hereditary infantile optic atrophy" and since then known after his name. Till now somewhat more than 60 cases have been reported in the literature. Two cases were described in the English literature but till now no case has been reported from India. In 1980, we had one case of Behr disease. Recently, we encountered two such cases from a family and thought it worthwhile to report such rare entity.
H. M., a 14 year old patient was admitted to the General Hospital, Udaipur on 16-11-81 with the complaints of progressively increasing difficulty in walking for the last 8 years. There was no other complaint. There was no history of trauma diabetes mellitus, syphilis, raised intracranial tension, alcoholism or nutritional deficiency.
In the family, his elder brother was also suffering from the same type of disease (Case 2). Other family members were well.
On examination, his mental state was normal. The field of vision and visual activity was normal for both eyes. No colour blindness was detected. Fundoscopy revealed bilateral optic atrophy [Figs. 1] and[Fig. 2] with normal colour and vasculature of the retina. Motor system examination showed minimal weakness in all the four limbs. Talipes caves was present in the left foot,. There was slight ataxia, spasticity and increased tendon reflexes in all four limbs. Abdominal and cremasteric reflexes were absent. Bilateral Babinski sign was positive. Visceral reflexes were normal. Examination of the skull, spine and other body systems was normal.
All the investigations including hemograms, urinalysis, skiagrams of the skull and spine, C.S.F. examination and lumbar myelogram were normal. Serum and CSF, VDRL test was negative.
His elder brother, aged 20 years, was also called for investigations. His complaints were also gradually increasing difficulty in walking for the last 12 years with deformity of both feet.
On examination, his speech was spastic with some emotional liability; otherwise his mental state was normal. Color vision, field of vision and visual acuity were normal in both eyes. Bilateral optic atrophy was detected on fundus examination. Motor system examination showed grade 4/5 power in all four limbs with ataxia, spasticity and increased tendon reflexes. Abdominal and cremasteric reflexes were absent. Bilateral Babinski sign was present. Both feet showed talipes cavus deformity. Skull, spine and other body systems were absolutely normal.
All investigations as for case 1, were normal. VDRL test on serum and CSF was negative.
The history and clinical features in the two present cases from a family are typical of Behr disease as described in the literature. The clinical manifestations of the disease are apparent between the ages of 1 and 9 years and in our cases the disease was also apparent at the age of 6 and 8 years in case 1 and case 2 respectively. Total bilateral optic atrophy has been described,  as in our cases. Inspite of the presence of optic atrophy, visual functions are relatively good and blindness is quite exceptional. The peripheral visual fields are usually normal. The affected individuals show different kinds of dyschromatopsia. In most cases, red-green dyschromatopsia is found. However, both severe dyschromatopsia and incomplete achromatopsia as well as normal, color vision have also been described. The present cases also had normal color vision.
Talipes cavus is usually present; however, Ford stated that talipes cavus is absent in Behr disease. Muscular spasticity with increased tendon reflexes, slight ataxia and positive Babinski sign are other characteristic features of this disease entity, and were also present in our cases.
Behr disease affects both sexes equally and usually follows an autosomal recessive inheritance pattern. The expressivity of the gene is variable and consequently, clinical symptoms show much diversity. Occasionally, an autosomal dominant inheritance pattern may be found. Like the other reported cases, our cases are from a single family, suggesting some genetic inheritance, although other members were normal; hence, specific pattern could not be detected.
The authors are thankful to Prof. H, K. Bedi, M.D., M.A.M.S., Medical Superintendent, R.N.T. Medical College, and Associated Group of Hospitals, Udaipur for his kind permission to publish these cases
|1.||Behr, C.: Die Komplizierte hereditarfamiliare optikusatrophie des kindesalters. Klin. MI. Augenheilk, 47: 138-160, 1909. |
|2.||Cordes, F. C.: Optic atrophy in infancy, childhood and adolescence; survey of 81 cases. Amer. J. Ophthalmol., 35: 1272-1284, 1952. |
|3.||Ford, F. R..: "Diseases of the Nervous System in Infancy, Childhood and Adolescence". C. C. Thomas, Springfield Illinois, 1960. |
|4.||Franceschetti, A.: L' atrophie optiqua infantile compliquee (Maladie de Behr). J. Genet. Hum., 15: 322-331, 1966. |
|5.||Henkes, H. E., Deutman, A. F. and Busch, H. F.: Behr disease; in "Hand Book of Clinical Neurology" Vol, 13, First Edition, Neuroretinal degenerations, Editor, Vinken and Bruyn, North Holland Publishing Company, Amsterdam, 1972, pp. 88-93. |