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Year : 1958  |  Volume : 6  |  Issue : 3  |  Page : 52-54

Marble bone disease, osteopetrosis

King George's Medical College and Gandhi Memorial and Associated Hospitals, Lucknow, India

Date of Web Publication8-May-2008

Correspondence Address:
S P Gupta
King George's Medical College and Gandhi Memorial and Associated Hospitals, Lucknow
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Source of Support: None, Conflict of Interest: None

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How to cite this article:
Gupta S P. Marble bone disease, osteopetrosis. Indian J Ophthalmol 1958;6:52-4

How to cite this URL:
Gupta S P. Marble bone disease, osteopetrosis. Indian J Ophthalmol [serial online] 1958 [cited 2021 Feb 27];6:52-4. Available from: https://www.ijo.in/text.asp?1958/6/3/52/40724

This rare disease is characterized by thickening of spongy and long bones of the body, a tendency to spontaneous fractures of the long bones with chang­es in the blood suggesting an anaemic condition in the more severe type of cases.

Hueck (1879) described bony sclero­sis at autopsy in a case of leukamia. Later this was classified as osteosclerosis and trhen called marble bones. Albers Schimberg first described the bony changes in living beings as detected by oentgenological studies. The condition is still called Albers-Schonberg disease but Karshmer (1926) objected to this name of marble bone disease and gave the term Osteopetrosis or brittle bones.

Optic atrophy in Albers-Schonberg disease was first definitely reported by Sick in 1914. It has been reported by Riser (1941) that optic atrophy is more commonly seen in infants with marble bone disease and is usually rare in adults.

  Case Report Top

Nazari Begum, a Mohomedan female aged 15 years was admitted on 3rd April 1958 in the medical ward as a case of marble bone disease, with com­plaints of :- headache and vomiting for 3 years, (2) progressive diminution of vision of 2½ years and (3) increasing obesity for 6 months.

  Family History Top

The parents are alive and healthy. She had two brothers but both died be­fore the age of 2 years. The cause of death could not be elicited. There was no history of such a disease in the family.

  Present Condition Top

She is a girl of 15 years of age, look­ing abnormally fat. The accumulation of fat is mainly in her thigh and hip regions, so much so that she finds dif­ficult to sit down. She has not started menstruating as yet neither there is any breast development. There is deficiency of pubic and axillary hair.

There is no light perception. The pupils are widely dilated, not reacting to light, directly or consensually. She has coarse pendular nystagmus.

On ophthalmoscopic examination the fundus presented the appearance of a post-neuritic type of optic atrophy, the blood-vessels being constricted and having a mild degree of sheathing.

Nothing abnormal was detected in the cardiovascular and respiratory systems. But for the involvement of the second cranial nerve the examina­tion of the central nervous system was non-contributory. The liver and spleen were palpable but not tender.

  Investigations Top

Urine, stool and haematological examinations were non-contributory.

Acid phosphatase estimation in plasma was 3.5 units, which is normal. The cerebro-spinal fluid emerged clear but under increased tension (85 drops per minute). The cell-count and esti­mations of proteins, sugar and chlorides in it were within normal limits. Its culture was sterile.

X-Ray Examination

[Figure - 1],[Figure - 2] are skiagrams of the skull which show increased density of the parietal and frontal bones and of the base of the skull. The sphenoidal sinus is obliterated and the sella turcica is smaller.

[Figure - 3],[Figure - 4] are skiagrams of the orbits, which show increased density of the margins of the orbit but normal orbital fissures.

[Figure - 5] shows a normal right optic foramen. (The left foramen is also similar).

[Figure - 6] is a skiagram of the pelvis and upper ends of the femur. All the bones show homogeneous increased density. There is obliteration of the medullary cavity of the femur. There is delayed union of the bones of the pelvis and of the greater trochanter.

  Discussion Top

The interest for ophthalmologists in this case lies in the visual disturbances. The sclerotic condition of the spongy bone at the base of the brain generally causes narrowing of the foramina of the base. Optic atrophy in such cases should be of a primary type. The non­involvement of the optic foramina, the presence of a post-neuritic type of optic atrophy, a history of headache and vomiting proceeding the atrophy and increased cerebro - spinal fluid pres­sure suggests that the condition result­ed from increased intracranial tension, which has not been reported so far in ophthalmic literature. It is also unusual to get optic atrophly in adult subjects of this disease.

This case did not show any haematological changes.

The other interesting feature in this case is the association of this disease with hypogenitalism, which may be due to the involvement of the sella turcica.

As it is likely that such a case may first come to an ophthalmologist for headache or progressive deterioration of vision, a young subject with optic atrophy, where serological tests for syphilis are negative, an X-ray exami­nation of the skull and pelvis would be indicated to exclude Albers-Schonberg Disease.[5]

  Summary Top

A case of Albers-Schonberg Disease with a post-neuritic type of optic atrophy and hypogenitalism is reported and commented upon.

  References Top

Albers-Schonberg (1904) Munch. Mediz. Wochens, 51, 365.  Back to cited text no. 1
Cecil R. L. and Loch. R. F. Text-Book of Medicine, tenth edition, (1959), VV. B. Saunders & Co. Philadelphia and London, p. 1137.  Back to cited text no. 2
Nelson W. E. Text-Book of Pediatrics, sixth edition (1954) W. B. Saunders & Co. Philadelphia and London, p. 1312.  Back to cited text no. 3
Riser R. .0. (1941) Amer. j. of Ophthal. 24, 874.  Back to cited text no. 4
Walsh: Neuro-Ophthalmology, second edi­tion (1957) The Williams and Wilkins Co., Baltimore, p. 391.  Back to cited text no. 5


  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6]


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