Oxycephaly in a sibling

MR Jain; YC Mishra; HS Chundawat; MK Punjabi

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Year : 1978 | Volume : 26 | Issue : 3 | Page : 12-15

Oxycephaly in a sibling

MR Jain¹, YC Mishra², HS Chundawat¹, MK Punjabi¹
¹ Department of Ophthalmology, R.N.T. Medical College, Udaipur, India
² Dept. of Ophthalmology, S.M.S. Medical College, Jaipur, India

Correspondence Address:
M R Jain
Department of Ophthalmology, R.N.T. Medical College,
India

Source of Support: None, Conflict of Interest: None

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PMID: 738772

How to cite this article:
Jain M R, Mishra Y C, Chundawat H S, Punjabi M K. Oxycephaly in a sibling. Indian J Ophthalmol 1978;26:12-5

How to cite this URL:
Jain M R, Mishra Y C, Chundawat H S, Punjabi M K. Oxycephaly in a sibling. Indian J Ophthalmol [serial online] 1978 [cited 2021 Feb 25];26:12-5. Available from: https://www.ijo.in/text.asp?1978/26/3/12/31188

Table 1

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The term Oxycephaly was first introduced by Virchow[1],[2] and described in detail by Greig[5]. It describes a congenital craniofacial deformity in which all the skull bones are fused at an early date and the consequent development of the brain, which though incomeplete, leads to compensatory expansion of the skull in a typical way to form a tower skull with vertical forehead, absence of superciliary arches, a promient nose, hypoplasia of the maxilla, relatively heavy lower jaw, exophthalmos and rarely dislocation of the eye ball[8],[10]. The rarity of the condition has been stressed by Valentine[11] who could count only 90 cases from world literature, and Greig[5] remarked that no observer from personal experience can come across many cases of this anomaly. However, its incidence in a family or a sibling is very scarce and merits reporting of these two cases in a family.

Case Report

A lady presented her two children, one male aged 10 yrs. and another female aged 8 years with main complaints of gradually increasing protrusion of both eye balls associated with their involuntary to and fro movements and increasing deterioration of vision since infancy [Figure - 1]. For the last one year, the male child was having attacks of headache and vomiting which were unaccompanied by any convulsions but left the child irritable.

Both children appeared to be well built and well nourished but had an anxious look and appeared to be mentally retarded.

The general and local examination of both children is given in a tabulated form [Table - 1].

Parents did not show any signs of this anomaly. The eldest child was normal. The 2nd and 3rd children have been described above and the fourth child had genu valgum.

Investigations

All investigations were normal except the skiagram of the skull [Figure - 2] which showed complete fusion of all the cranial bones at the suture lines. The base of the skull was depressed, anterior cranial fossae were shallow and the greater wings of the sphenoid were placed anteriorly. The middle fossa appeared to be deep and funnel shaped with slight involvement of sella turcica. Bones of the vault appeared markedly thinned out with conspicous digital impressions.

Management

In both patients Craniotomy [Figure - 3] was attempted in two stages. for relieving the intracranial pressure. The girl succumbed on the next day of the operation due to postoperative intracranial haemorrhage but the boy showed relief of headache without any improvement of the other clinical symptoms.

Comments

Oxycephaly has been accepted as a distinct entity, with definite symptomatology and predetermined course. No race is immune but African races show a relatively greater predilection for these cranial defects[4]. Oxycephaly is more common in males, usually sporadic, but a recessive hereditary tendency is common. Dominant or irregular dominant penetration have been described by Walsh[13] and Duke Elder[3].

The exact pathogenesis of this anomaly is still obscure and debatable. Inflammation[2], defective development of primitive mesoderm[6], and defect in the germ plasm[7] have been blamed to be the responsible factors for this pathology. Others have laid stress on the teratogenic origin[1]. Ocular manifestations are secondary to cranial deformities. Optic atrophy, exophthalmos, exotropia, nystagmus and mental deficiency are the usual presenting features in a well established case.

Pushing forward of the greater wing of the sphenoid along with the depression of the orbital roof reduces the orbital volume with resultant protrusion and even subluxation of the eye ball. Simultaneously the bridge of the nose is increased with the divergence of the inter-orbital margin precipitating exophthalmos and exotropia.

The etiopathogenesis of the optic atrophy has been explained on the basis of increased intracranial pressure leading to papilloedema, mechanical tractions due to deformed base of the skull with a shift of the roof of optic canal backwards and consequent compression by the carotid artery[6]. Narrowing of the optic foramen as a causative factor deserves merit for consideration. It appears that probably more than one factor is operative as Walsh[13] has pointed out that raised intracranial pressure leading to papilloedema and traction and pressure over the optic nerve due to bony changes are jointly responsible for it.

Blindness in addition to other signs and symptoms progresses so gradually that a timely assessment and surgical intervention can prevent the functional as well as anatomical deformity. In its milder form, damage may be insignificant and the patient may live upto senility with the preservation of good vision but those having severe grades of deformities rarely reaches to maturity. Death usually follows prolonged headache, vomiting and convlusions. Mental efficiency is always subnormal because of restricted brain growth. Optic atrophy before the development of foveal fixation results in nystagmus.

The management aspect of this anomaly needs early surgical intervention by way of craniotomy, preferably at the age of 2 to 4 years since the symptoms tend to stabilize at the age of 7 to 8 years with irreparable damage.

Summary

A rare occurence of true oxycephaly in a sibling with characteristic radiological changes, mental retardation, exophthalmos, exotropia, optic atrophy and nystagmus has been described, and its aetiopathogenesis reviewed.

References

1.	Aports, E. and Bigot, 1921; Ibid 45, 1717.
2.	Crouzon and Regnault, 1950, Amer. Jour. Oph. 33, 77.
3.	Duke Elder, S, 1964, System of Ophthalmology, Henry Kimpton, London, 3, 1037.
4.	Gorden, H., 1959, Brit. Med. Jour. 2, 792.
5.	Greig, D.M., 1926, Edin. Med. Jour. 33,189.
6.	Mann, I., 1937, Developmental abnormalities of the eye. Cambridge.
7.	Park, E.A. and Powers, G.F., 1820, Amer. JourDis. Child, 20, 235.
8.	Ramchand, S., Garg, K.C. and Saxena, R.C. 1969, Jour. All India Ophth. Soc., 17, 8.
9.	Rubin, 1937, Premature synostosis and associated phenomena. In practice of paediatrics (Brenne-man J. Ed.) Hagerstown, Md. Prior 4, 25.
10.	Sohrme, J., 1938, Brit. Med. Jour. 1, 565.
11.	Valentine, 1938, Acta Orthop. Secanda., 9, 235.
12.	Virchow, 1851, Vhdl, Phys. Med. Ges. Warzburg, 2,241.
13.	Walsh, F.B., 1969, Clinical Neuro-Ophthalmology, 3rd Ed. The Williams and Wilkins Company. Baltimore. 1, 694.