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| ARTICLE |
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| Year : 1970 | Volume
: 18
| Issue : 4 | Page : 187-189 |
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Albers - schonberg disease (osteopetrosis)
G Natchiar
Assistant Professor of Neuro-Ophthalmology, Madurai Medical College, Madurai, India
Correspondence Address:
G Natchiar
Assistant Professor of Neuro-Ophthalmology, Madurai Medical College, Madurai
India
 Source of Support: None, Conflict of Interest: None  | Check |
How to cite this article:
Natchiar G. Albers - schonberg disease (osteopetrosis). Indian J Ophthalmol 1970;18:187-9 |
This condition was first described by Albers Schonberg in 1904. Subsequently, in 1926 Korshner gave the name of Osteopetrosis. It is a rare disease characterised by increased density and thickness of both cortical and spongy bones, by spontaneous fractures and occasionally by changes in the blood resembling that of leukaemia. A distinct familial tendency is displayed and the disease is occasionally inheritant. It is due probably to an inborn error of calcium metabolism, but the exact metabolic defect is unknown. Long bones and bones of the skull are usually affected. The involved bones appear to be uniformly dense with partial or complete obliteration of the medullary space. The metaphyseal region of the long bones shows club like, thickening with remarkable increase in bone density, consequent reduction in blood forming marrow which causes aplastic or leukaemic anaemia. Radiographically the affected parts of the bones have a dense homogeneous appearance. These cases usually attend Orthopaedic Department either for a pathological fracture or for a deformity in the skeletal system. Rrarely they come to ophthalmologists for prominence of the eye ball with defective vision. The ocular complications of this disease are attributed solely to the results of pressure by the overgrowth of the bone, on the eye or on the nerves of the eye and the lesion includes optic atrophy, exophthalmos, nystagmus, ptosis and papilloedema. Optic atrophy is commonly found in infants and children who suffer from a severe degree of this disease and it is not found in adults with osteopetrosis. Keith [2] , has reported a case of Osteopetrosis with optic atrophy and he says that optic atrophy in that particular case was not due to bone pressure, but it was due to retinal atrophy and retinal degeneration which can also occur in osteopetrosis.
| Case Report | |  |
N.O., an 8 years old boy was referred to the Neuro Ophthalmic Department from the E.N.T. ward as a case of bilateral proptosis with defective vision.
History : The child was having headache, purulent ear discharge from the left ear since z years and for that he underwent mastoidectomy on the left side in 1966 and since then he was having a persistent sinus behind the left ear discharging pus. He developed difficulty in closing the left eye and deviation of the angle of the mouth after this operation. According to the parents, child was full term normal, had normal milestones. The child was not sent to school because of poor vision. They also noticed bilateral prominence of the eye balls with involuntary jerky movements.
Family History : The second child among the four siblings. None of the others have got similar complaints.
Examination : The child was ill looking and severely anaemic. The shape of the skull was peculiar. It appeared to be like a `tower skull' [Figure - 1]. He had multiple bony swellings over the skull, deformity of both arms and legs. Talipes varus deformity was also present in both feet. In addition there was a bony prominence on the left side of the clavicle due to an old pathological fracture.
Ocular Examination : Child had bilateral proptosis and exophthalmometry reading was 28 mm. in both eyes. There was horizontal nystagmus which was present in all directions. Movements of the eye ball and eye lids were normal except for a facial nerve paralysis of lower motor neuron type left side [Figure - 2]. Pupils were slightly dilated and reaction was sluggish. Vision could not be recorded by Suellen's chart because he was too ill and because of poor co-operation ; approximately it could be about z/6o in both eyes. So also, the fields could not be charted.
Fundus examination revealed clear media, optic discs were pale with clear margin. No swelling of the disc was seen. Arteries were slightly narrowed. The picture was that of primary optic atrophy.
Other systems: Cardiovascular and respiratory systems were normal.
Abdominal Examination : Liver, spleen were not palpable.
With these findings, we thought the possibility of oxvcephaly and bilateral proptosis with optic atrophy were attributed to the deformity of the skull bone.
Radiographic examinations : X-ray skull showed increased density of the bone as we see in the picture. Hair brush bristle appearance was seen in the vault of the skull. There was also evidence of an old fractured clavicle on the left side. X-ray of long bones showed similar increased density and sclerosis of the bones. The diagnosis of Albers Schonberg disease was mainly made on radiological examination [Figure - 3],[Figure - 4]. Blood examination Haemoglobin was 5.4 gm% ; RBC 1.95 millions; WBC 12,000; Differential, P 4 8 L 4 8 E 4 . ESR was 142 mm. In 1 hour. There were no immature cells in peripheral blood smear. Urine examination was normal.
The interesting point in this case was, the patient was referred to Neuro Ophthalmic Department from the E.N.T. Ward after mastoidectomy on the supposition that the proptosis and optic atrophy were due to some intracranial pathology following mastoidectomy. But the shape of the skull, abnormal bony swellings over the body gave us a clue regarding the actual diagnosis.
| Summary | | |
A case of Osteopetrosis with bilateral exophthalmos and optic atrophy in a 8 years old boy is reported. The diagnosis was mainly made on radiological examination[5].
| References | | |
| 1. | Consul, B. N., Kulshrestha, O. P. and Sethi, P. K. - Osteopetrosis - Amer. J. Ophthal. 58: 686-690, 1964.  |
| 2. | Keith, C. G. - Retinal Atrophy in Osteopetrosis. Arch. of Ophth. (Chicago), 79: 234-241, March 1968. |
| 3. | Walsh, F. B. - Clinical Neuro Ophthalmology, Williams and Wilkins Company, Baltimore, 1957. |
| 4. | Wills, P. and Sweetman, R. - Essentials injuries. |
| 5. | Watson, Jones R. - Fracture and joint of Orthopaedics. |
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]
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