|Year : 1963 | Volume
| Issue : 2 | Page : 43-50
Suresh Kumar, Kailash Nath
Muslim University Institute of Ophthalmology, Gandhi Eye Hospital, Aligarh, India
Muslim University Institute of Ophthalmology, Gandhi Eye Hospital, Aligarh
|How to cite this article:|
Kumar S, Nath K. Craniostenosis. Indian J Ophthalmol 1963;11:43-50
Craniostenosis embraces a group of rare developmental diseases in all of which premature closure of the cranial sutures results in deformity of the skull and facial bones. In India there is great paucity of material on this disease and reports are difficult to find in the literature. Interest however was aroused by Roy Ebenezer (19J9) when he read a paper on Oxycephaly before the All-India Ophthalmic Conference at Trivandrum. It is our feeling that this disease, hitherto considered extremely rare, must be more common in our country than we are led to believe. Since in a somewhat limited period of one year we have had four such patients at the Gandhi Eye Hospital, Aligarh, we are of opinion that many cases go unrecognized. Important ocular changes resulting in early diminution of vision lead these patients to seek advice from ophthalmologists. The aim of this paper is to bring out the salient ophthalmic features of this disease and to give a report on four additional cases for our very limited literature.
Association of optic atrophy with cranial deformity was recognised as early as 1866 by von Graefe, and Michel in 1873. Apert, in 1906, presented a patient having cranial deformity associated with syndactyly of both upper and lower extremities. But the flame of literary controversy was kindled by Crouzon in 1912, when he presented before the Societe Medical d'hopiteaux de Paris, a case of mother and son showing cranial deformities, recession of the maxillae with relative prognathism, marked exophthalmos, divergent squint, and optic atrophy with diminution of vision. Both Apert and Crouzon vehemently maintained that the conditions described by them were separate syndromes having no relation with each other. This myth was exploded by Vogt (1933), who decried the whole idea of separate names for each combination of symptoms with the statement "that all of these conditions should be considered as Dyskephalies" or cranial dysostosis.
The wealth of articles and case reports that have accumulated in the foreign literature since this controversy commenced, have paved the way to a better understanding of this disease with regard to its aetiology, progress and treatment. Also it has helped to prove the correctness of Vogt's observation, and in addition Supports Virchow's (1951) assumption that growth of the skull is interferred with at right angles to the prematurely closed suture causing overexpansion to take place in the regions where the sutures remain open.
| Etiology|| |
The exact cause of premature synostosis is not known. Virchow's belief that the condition was of inflammatory origin has been disproved by absence of mental deficiency and lack of cranial nerve involvement. There is strong evidence that the disease is of genie origin. That it occurs in family groups and that it may be transmitted from one generation to the next is beyond dispute. It may occur sporadically in a family in which 'it never existed before, and one form of premature synostosis may lead to another. These facts derived from clinical evidence support the theory put forward by Mann (1935) that the condition is due to mesodermal failure within the skull bones leading to its reversion to an atavistic type towards that of the lower animals which have a narrow skull base with flattening of the anteroposterior line and divergence of the orbits.
| Classification|| |
Numerous authors have attempted to classify the disease. Noteworthy among these are the-classifications of Virchow (1951), Greig (1926), Brown and Harper (1946), Simmons (1947), and Fairman and Horax (1949).
Greig's classification enjoyed wide acceptance. He classified the cranial deformities into three groups, viz.:
(i) True Oxycephaly with general craniofacial stenosis, of congenital origin and associated with mesodermal defects such as syndactyly, etc.
(ii) Delayed Oxycephaly, occurring during childhood and not associated with other deformities.
(iii) False Oxycephaly caused by localised synostosis, acquired and of definite origin.
Brown and Harper (1946) classified the disease according to the anatomical shape of the skull such as, 1. Oxycephaly or tower skull, 2. Scaphocephaly-boat shaped skull, 3. Plagiocephaly, slanting head, 4. Trigonocephaly caused by excessive development of the posterior part of skull and 5. Hypertelorism characterised by undue separation of the orbits. This grouping was bared upon the site of synostosis of the sutures and did not follow any aetiologic criteria.
Fairmann and Horax's (1949), classification divides the disease into two main groups namely (i) Complete and (ii) Incomplete synostosis. The complete variety includes Oxycephaly and the incomplete form embraces Scaphocephaly and Brachycephaly. Each of these is further sub-divided into compensated and incompensated forms. This classification is of much clinical value for it indicates that surgical procedures if carried out on incompensated deformities before irrepairable damage has occurred in the optic nerves and brain tissue, can prevent important sequelae. In the compensated type of deformity the value of these procedures is however only cosmetic.
| Eye Findings|| |
The common eye findings are those attributable to smallness of the orbits and the effects of raised intracranial pressure. Reduced orbital capacity leads to proptosis which in the extreme form may result in evulsion of the globe and exposure keratitis. There is divergent squint without limitation of ocular movements. Other common finding:, are nystagmus, widening of the palpebral fissure and tagophthalmos. Papillaedema occurs later and is followed by optic atrophy.
A large number of inconsistent findings are seen in some cases. These include coloboma of the iris and choroid, congenital cataract, subluxation of the lens, vitreous opacities, other defects. They are all ascribed to mesenchymal failure. Indeed similar embroyological disorders may be observed in other parts of the body such as high arched palate, cleft palate, hare-lip, syndactyly, aplasia of the clavicle and decreased number of cervical vertebrae (Klippel Feil syndrome or Brevicollis).
| Radiological Findings|| |
The X-Ray picture of the skull is typical in craniostenosis. The suture markings are obliterated from a very early age. Increased intracranial pressure accounts for convolutional atrophy of the brain and thining of the calvarium. These are typified by the `digital' impressions which are the most prominent feature in X-Ray films. The orbits are small, optic foramen may be narrow, and the greater and lesser wings of the sphenoid may show displacement.
| Treatment|| |
In recent years the surgical treatment of craniostenosis has received much attention from American neurosurgeons. The aim of treatment is to prevent blindness and mental retardation by some form of decompression operation. For surgery to prove effective it must be carried out at a very early age, preferably within the first year of life. After the age of three years chances of improvement are remote for 80 per cent of the growth of the brain is completed within this period. This explains the need for early operation if blindness and other results of prolonged intracranial pressure are to be avoided.
The following surgical procedures [Figure - 2], have been tried with success by various authors:
1. Morcellation procedure used by King (1941), and Woodhall (1942), consists of drilling numerous burr holes in the skull and connecting them by lines of craniotomy to produce a mosaic morcellation of the skull. This operation permits enlargement of the cranial vault and provides extra space for development of the brain.
2. Further improvement in the above technique was suggested by Simmons and Peyton (1947), and by Ingraham, Alexander, and Matson (1948), who used tantalum foils and polyethylene films respectively to prevent rapid closure of the artificially produced lines.
3. Linear, Circular or Hinge-flap craniotomy has proved successful in some cases.
4. Gevet and Leveuf have reported success with Hildebrand's (1923) operation for decompression of the optic nerve. In this procedure pressure on the optic nerves is relieved by removing a portion of the orbital roof surrounding the optic canal.
| Case Histories|| |
[Table - 1] shows in tabular form the salient clinical features in four cases of craniostenosis, all admitted to Gandhi Eye Hospital, Aligarh during the last one year.
Case 1, P. K. [Figure - 1],[Figure - 2],[Figure - 3], and Case 3, S. K. [Figure - 7] were fully developed cases of Oxycephaly. Case 3 had a typical dome-shaped head with a prominent ridge in the fore-part of the cranial vault, but i, did not show the classical shape. Both patients had well marked digital impressions in X-Ray pictures with complete obliteration of all cranial sutures and secondary optic atrophy in both eyes. Both patients also had history of convulsions during first year of life and these ceased as development progressed. Their mental capacity however, was not much below the normal for their age.
Case 2. T. V. [Figure - 4], was discovered accidentally while eliciting the family history of P. K. Her X-Ray picture, did not reveal any digital impressions but the coronal and lambroid sutures were nearly closed, rather unusual for her age of 23 years, and the markings of the rneningial vessels were prominent. She was diagnosed to be a case of delayed scaphocephaly of the compensated type, by virtue of proptosis, divergent squint, partial optic atrophy in one eye and shape of the head which was elongated antero-posteriorly and short vertically. The visual field loss in her right eye [Figure - 5], could not be ascribed to the corneal opacities which she possessed. These were bilateral and symmetrically confined to nasal sector of both corneae leaving the pupillary zone free, whereas the field loss was restricted to the eye having the paler disc.
Case 4. A. A. [Figure - 8], was a case of delayed Oxycephaly. His X-Ray picture [Figure - 9],[Figure - 10], showed quite prominent digital impressions. The lambroid suture was not stenosed but the coronal was partially closed. There was papilloedema in both eyes with prominent veins but no haemorrhages or exudates. Lumbar puncture was done and the fluid was found to be under much pressure. About 15 cc of fluid was removed for biochemical examination and cell count. These were found to be within normal limits. Following this procedure the vision in both eyes improved to 6/18 within a week and the swelling of the discs was much reduced. Two more lumbar punctures were performed at weekly intervals an3 after the last puncture the vision returned to 6/6 in both eyes with complete subsidence of papilloedema.
| Discussion|| |
From the Ophthalmic point of view the two important features in craniostenosis are proptosis and visual failure due to optic atrophy. According to Duke-Elder (1952) 50% of Oxycephalic patients show proptosis. This is caused by shallowness of the orbits brought about mainly by forward and medial displacement of the great wings of sphenoid, and to a lesser extent by vertical direction of the orbital roof. Factors which lead to optic atrophy are raised intracranial pressure, traction upon the optic nerve by upward displacement of the brain, narrowing of the optic foramen leading to compression of the nerve, or by a combination of these.
Duke-Elder also states that the typical dome-shaped appearance of vertex in Oxycephaly develops in about a decade after birth. Our observation on Case i (P. K.) confirms this view. This patient had a nearly normal shaped head although he possessed all the other signs of complete incompensated Oxycephaly. The patient of Case 3. (S. K.) also stated that upto the age of 3 years the patient's head showed no abnormality in shape and the prominence of the vertex had developed during the last two years.
Visual failure on the other hand may be early or delayed depending not on the type of skull, but upon the actual condition of the optic nerve (stretching, kinking, compression, or swelling). Howell (1954), reported three cases aged 7 months, 3 and 5 years respectively. The first a Scaphocephalic had normal fundii, and the second (aged 3 years), who had a normally shaped skull showed marked decompensation, and optic atrophy with almost complete blindness. This latter case so also case 1 and 3, in the present series, show that blindness can occur before the 3 rd year of life if the intracranial pressure is not reduced surgically although the shape of the head remains normal.
Uhtoff's (1914) figures are of some significance in so far as the ultimate prognosis of vision is concerned. His view is that complete blindness occurs in 78% cases, practical in blindness in another 10%, blindness in one eye with fair vision in the other in 15%, and useful although reduced vision in a further 25% of cases. Bertelsen (1958), however, found optic atrophy in 35.9% in his carefully examined material of 175 patients. In our opinion two other factors are likely to influence the visual acuity. These are (i) the type of craniostenosis and (ii) the age at which changes in the skull bones get stabilised. In Scaphocephaly the deterioration in vision is likely to be less than in Oxycephaly and may remain confined to only one eye. Also, failure in vision will be early and more pronounced where synostosis is completed at a relatively young age in comparision with delayed fusion. The above views are borne out by our observations on cases 2 and 4 respectively.
For surgical treatment to be effective early diagnosis preferably before the age of one year is necessary. 80% of growth of the brain is completed within the first three years of life and if the disease remains unchecked during this period, not only is the mental capacity retarded but also the changes in the optic nerve become advanced and irreversible. The shape of skull alone does not always conform with the classical description and unless radiological investigation, are carried out in time the disease may remain undiagnosed. In two patients of the present series (case 1 and 3) there was definite history of premature closure of the anterior fontanelle before the age of 6 months. The normal age at which this fontanelle closes is 11 to 22 months. It is therefore our premise that such premature closure of the anterior fontanelle merits detailed investigation and calls for radiological examination of the skull to look for the presence of digital impressions and obliteration of sutures so characteristic of craniostenosis.
In the present series no patient was found suitable for surgical treatment. Case 3 had advanced to a stage where surgery was of doubtful value. Case 2 was well compensated. Case i had some vision and was advised surgery but this was refused by the parents. Case 4 responded very well to lumbar puncture and his 6 month follow-up shows the visual acuity maintained at 6/6 in both eyes with no field loss. His X-Ray of the skull however still shows the presence of digital impressions. Brockmeyer (1933), reported improvement in the appearance of the optic nerves and vision in one case after repeated lumbar punctures. We feel that in suitable cases this procedure may be of some benefit.
| Summary|| |
r. Four cases of craniostenosis (2 of complete Oxycephaly, 1 Scaphocephaly, and I delayed Oxycephaly), are presented.
2. Diagnosis was established by eye findings, shape of head and X-Ray picture of skull which in three cases revealed typical digital impressions.
3. The value of premature closure of anterior fontanelle in early diagnosis of Oxycephaly is stressed.
4. Repeated lumbar puncture in delayed Oxycephaly (case 4), restored vision to 6/6 in both eyes with subsidence of papilloedema. The other cases were found unsuitable for surgery.
5. A short review of literature and outline of classification, aetiology and treatment of craniostenosis is mentioned.
| References|| |
|1.||Abel's, M. M., (1936), Arch - Ophth., 16 : 188-196. |
|2.||Apert, E. (1906), Bull. et mem. Soc. Med. d. hop. de Paris, 23 : 1310-30. (Dec). |
|3.||Bertelsen, T. I. (1958), Acta. Ophthal. (Kbh)., Suppl. 51 : 176. |
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|28.||von Graefe, A. (1866), Arch. f. Ophth., 12 : (part 2) 114-115. |
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|30.||Woodhall, B. (1942), J. Pediat., 20: 585-595. |
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7], [Figure - 8], [Figure - 9], [Figure - 10], [Figure - 11]
[Table - 1]