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| Year : 1987 | Volume
: 33
| Issue : 1 | Page : 43-4 |
Cockayne syndrome (a case report).
Joshi RM, Kallapur SG, Gandhi RK, Ketkar DR, Mohire MD, Kulkarni VS, Patnekar PN
How to cite this article:
Joshi R M, Kallapur S G, Gandhi R K, Ketkar D R, Mohire M D, Kulkarni V S, Patnekar P N. Cockayne syndrome (a case report). J Postgrad Med 1987;33:43 |
How to cite this URL:
Joshi R M, Kallapur S G, Gandhi R K, Ketkar D R, Mohire M D, Kulkarni V S, Patnekar P N. Cockayne syndrome (a case report). J Postgrad Med [serial online] 1987 [cited 2023 Jun 2];33:43. Available from: https://www.jpgmonline.com/text.asp?1987/33/1/43/5302 |
Cockayne, in 1936, reported two siblings with dwarfism, microcephaly, mental retardation, deafness, a photosensitive dermatitis and a peculiar form of retinal pigmentation.[1]
Since his initial description of this syndrome, approximately 30 cases have been added to the world literature. We report a case of Cockayne syndrome in a nine year old female child and highlight the diagnostic and genetic aspects of this condition.
A nine year old female child, born of a non consanguinous marriage, was brought by her mother for complaints of failure to thrive. During the third trimester of pregnancy, the mother had hepatitis for 15 days for which she was treated with herbal medicine, otherwise the perinatal history was normal. The child had apparently nor mal milestones in the first year of life. But after the child started walking in the second year of life, mother noticed unsteadiness of gait, which slowly progressed over nine years. The child also used to develop recurrent redness of the facial skin on exposure to sunlight since the age of one year, which leads to thickening of the skin, later on leading to scaling and disappearance of the rash. Examination revealed proportionate short stature and cachexia (height and weight both were below the 5th percentile), and microcephaly with mental retardation (IQ 50%). The examination of face showed small skull with large sunken eyes, a beaked nose, large prominent ears, relatively small mandible, severe dental caries and a photosensitive skin rash in a butterfly distribution [Fig. 1]. She had absence of sweating on limbs which also appeared cold and dusky. Neurological examination revealed cerebellar ataxia. The power, tone, reflexes and sensation were otherwise normal. There was no blindness or deafness, and the fundus examination and audiometry were normal. Electroencephalogram, electromyogram and nerve conduction were normal. Serum lipidogram showed no abnormality. The karyotype was normal.
The characteristic fades, cachectic dwarfism, microcephaly, mental retardation, cerebellar ataxia and a photosensitive skin rash lead us to the diagnosis of Cockayne syndrome in this child. There was no history of similar illness in any of the family members.
Cockayne syndrome is a rare condition with less than 40 cases in the world literature.[2] The syndrome often goes undetected in infancy during which time growth and development are normal. Progressive degeneration is manifest by the second or third year. Most survivors live upto the fourth decade when they frequently die from inanition, or secondary infection. The male to female ratio is 3:1.
All reported cases have cachectic dwarfism.[1],[2],[4] Most have an unsteady gait or they never learn to walk. Recent reports have noted a demyelinating peripheral neuropathy. Neuropathologic changes include neuronal and myelin loss with deposits of calcium and iron about the vessels in the cerebellum, basal ganglia and cerebrum.[5] The most common neurological manifestation is mental retardation, when followed over a long time this apears to be progressive. The EEG is usually abnormal, but seizures are seen only occasionally.
The characteristic eye lesion is retinitis pigmentosa. Progressive visual deterioration with optic atrophy and cataract formation is common. Total or partial neuro-sensory deafness and associated speech impairment are seen in a large majority of affected patients. The characteristic skin finding is a photosensitive dermatitis which heals with atrophic scarring. Subcutaneous tissue is decreased or absent. The characteristic facies include a small skull with large sunken eyes, a beaked nose, large prominent ears and a small mandible. Severe dental caries at an early age is common. Disproportionately long extremities with cold, blue hands and feet are frequently associated.
In about half of the reported patients it is familial and two thirds of the patients are the products of consanguinous marriage, suggesting a genetic basis with a recessive mode of inheritance. A 3:1 predominance of males suggests a possibility of X-linked gene.[2]
The etiology of this condition remains unknown. Some patients have hyperbeta-lipoproteinemia or prebetalipoproteinemia. Chromosomal studies done in two-thirds of the patients have been normal with the exception of an isolated individual where a trisomy of group 19-20 was noted.[2] In several recent studies fibroblast cultures from the skin of the affected patients showed abnormally decreased cell survival after ultraviolet irradiation but not after X-ray irradiation similar to xeroderma pigmentosum.[3]
Management is for the associated problems. They include the use of emollients for skin rash and physiotherapy to avoid contractures. Patients should be counseled for the recurrence of this condition in the family.
The authors wish to thank the Genetic clinic, Dept. of Pediatrics, K.E.M. Hospital and the Medical Superintendant, Dr. R. N. Cooper Hospital for the help given to publish this report.
| 1. | Cockayne, E. A.: Dwarfism with retinal atrophy and deafness. Arch, Dis, Child, 11: 1-8, 1936.  |
| 2. | Greist, M. C.: Cockayne syndrome. In "The Handbook of Clinical Neurology", Vol. 43. Editors: P. J. Vinken and G.W. Bruyn, North Holland Publishing Company, Amsterdam, New York, Oxford, 1982, pp. 350-352. |
| 3. | Schmickel, R. D., Chu, E. H. Y. Trosko, J. E. and Chang, C. C.: Cockayne syndrome: A cellular sensitivity to ultraviolet light. Pediatrics, 60: 135-139. 1977. |
| 4. | Spark, H.: Cachectic dwarfism resembling the Cockayne-Neill type. J. Pediatr., 66: 41-47, 1965. |
| 5. | Sugarman, G. I., Landing, B. H. and Reed, W. B.: Cockayne syndrome: Clinical study of two patients and neuropathological fidings in one. Clin. Paediatr. 66:225-232, 1977. |
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