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ARTICLES
Year : 1986  |  Volume : 34  |  Issue : 1  |  Page : 61-66

The Kleeblattschadel (cloverleaf skull) syndrome


The Paediatric Ophthalmology Service, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, A.I.I.M.S. Ansari Nagar, New Delhi, India

Correspondence Address:
Supriyo Ghose
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, A.I.I.M.S. Ansari Nagar, New Delhi 110029
India
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Source of Support: None, Conflict of Interest: None


PMID: 3443500

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How to cite this article:
Ghose S, Mehta U. The Kleeblattschadel (cloverleaf skull) syndrome. Indian J Ophthalmol 1986;34:61-6

How to cite this URL:
Ghose S, Mehta U. The Kleeblattschadel (cloverleaf skull) syndrome. Indian J Ophthalmol [serial online] 1986 [cited 2020 Sep 19];34:61-6. Available from: http://www.ijo.in/text.asp?1986/34/1/61/26344

The Kleeblattschadel syndrome is charac­terised by a particularly severe form of dysostosis of the skull with very premature synostosis and associated with internal hydrocephalus[1]. Though described in the German literature much earlier[1], the English terminology of "cloverleaf skull syndrome" was coined by Comings in 1.965[2]. Very few reports of this entity are available, though the ophthalmic manifestations are striking and important.


  Case reports Top


Case 1

A 34-day-old boy with a grotesque appearance of the head since birth was referred to us for ophthalmic evaluation. The child was a full term normal delivery with an uneventful antenatal record. There was no significant family history, and the two older sisters were quite normal. There was no history of parental consanguinity.

General and systemic examination was unremarkable with normal joint movements. The skull exhibited the characteristic cloverleaf deformity with the temporal pro­tuberances pushing the ears to a very low­set position [Figure - 1]. The nose was normal with a relatively large mouth (macrostomia), a high arched palate, prominent upper jaw (superior prognathism), and a receding chin (micrognathia) [Figure - 1]. The coronal, lamb­doidal and saggital sutures were all felt to be closed with bulging fontaneiles.

The prominent eyeballs were obvious, with full ocular movements, a left divergent squint, increased intercanthal distance, and an antimongoloid slant of the palpebral apertures [Figure - 1]. The child blinked prompt­ly to bright light. The anterior segments were normal, except for a faint corneal haze in the left eye for which protective medication was advised. The fundus picture was within normal limits for his age, with no evidence of papilloedema.

Radiography confirmed the gross defor­mity of the skull vault with thinning and silver beaten appearance, fusion of all the cranial sutures, and orbital hypertelorism. On CT scan, the third and lateral ventricles were normal, but the fourth ventricle could not be visualised. An area of decreased attenuation in the left temporoparietal region suggested a porencephalic cyst-the rest of the brain parenchyma appeared normal.

Six weeks later, the CT scan confirmed the clinical impression of a raised intracra­nial tension, and a bilateral circular cranio­tomy was promptly undertaken. At the age of eight months, the child had to be read­mitted for thecoperitoneal shunt, which was revised a month later. After another four months, the head circumference was noted to be rapidly increasing' with cerebral hernia­tion-the CT scan showed evidence of dila­tation of the temporal horn of the left lateral ventricle. A V.A. shunt was urgently under­taken with improvement in the clinical and CT scan pictures. Four months later, the shunt had to be revised. The condition stabilised, and at the, age of two years the proptosis was less evident, the corneas were clear, and the fundus picture still remained normal.

At the age of three years the craniofacial appearance was more acceptable, but Ian alternating convergent squint was noticed with no evident paresis [Figure - 2]. The visual acuity recorded on Catford was 6/18 in the right eye and 6/24 in the left, and the cyclo­plegic refraction was within normal limits for age. The child was maintained on regular follow-up and a routine examination six months later revealed definite fundus changes indicative of incipient papilloedema, more so in the left eye, with minimal disc hyperaemia, blurring of the poles and nasal edges, partial filling of the cups, and mild venous engorgement and tortuosity with elicitable venous pulsations [Figure - 3]. In view of the fundus picture, a CT scan was urgently undertaken and confirmed rising ICT with increase in ventricular size, attri­butable to a partially blocked shunt, which was then promptly revised. The regression of the fundus findings postoperatively con­firmed our preoperative diagnosis of inci­pient papilloedema. The child is attending regularly for follow np.

Case 2

A 20-day-old girl with a peculiar head configuration since birth was referred to us for ophthalmic examination. The antenatal history was normal except for maternal fever lasting for two months since the third month of gestation, for which the mother took homeopathic treatment. The baby was a full term normal delivery. There was no signi­ficant family, history, and no history" of parental consanguinity.

She was a thinly built infant with an unremarkable general and systemic examina­tion except for the cloverleaf skull deformity which imparted a grotesque appearance to the patient [Figure 4]. The craniofacial anomalies are depicted in [Figure 4]. Clinically, the coronal, lambdoidal and saggital sutures were fused, with bulging anterior and poste­rior fontanelles.

The child responded well to a flash of light, and readily followed the light in all directions [Figure 4]. Besides the ocular featur­es described in [Figure 4], the left cornea showed evidence of mild exposure keratitis which responded to conservative treatment. The anterior segments were otherwise nor­mal. Fundus examination was within normal limits for age, except for a mild venous engorgement with minimal venous tortuosity in the left eye, suggestive of suspected papilloedema. However, the disc margins were well defined with normal cups, hyperae­mia was not evident, and venous pulsations were easily elicited.

The haemogram and urinanalysis were within normal limits. Radiographs of the skull showed evidence of severe craniosynos­tosis with cloverleaf deformity, and cranio­lacunae (beaten silver appearance).

A cranioplasty was performed at the age of 40 days. The progressive nature of this severe deformity in spite of surgical inter­vention is obvious from the postoperative photographs [Figure 5]. The shallowness of the orbits with the bulging eyeballs was still evident, and the left fuadus still exhibited a venous fullness. Tire ehiid is on regular follow up, and further surgical intervention may have to be considered if the fundus and radiological pictures (including Cr scan) worsen.


  Discussion Top


Craniofacial malformations or dysostoses of the skull (dyscranias) affecting mainly the upper part of the face and hence the orbits and eyes are represented primarily by the classic forms of craniosynostosis, usually manifesting in oxycephaly, Crouzon's disease and Aperi's syndrome, or variants thereof[3],[4].

In true oxycephaly, all the craniofacial sutures are involved in premature synostosis. In its minimum degrees, the malformation is quite common[3]. The skull, face and invari­bly the orbits are prominently involved with secondary ocular features, necessitating active surgical intervention as an ameliora­tive measure[3],[4]. "Kiceblattschadel" or "cloverleaf skull" syndrome may represent the severest and rarest form of oxycephaly with very prominent and severe synostosis. Till 1981[5], only about 30 cases have been documented in the world literature. The first report in the ophthalmic literature appeared in 1973[6]. and since then hardly any have appeared in ophthalmic writings[5]. To the best of our knowledge, the condition has not been documented so far in the Indian ophthalmic literature.

Our patients exhibited the typical cranio­facial malformations pathognomonic of the cloverleaf skull syndrome[6], including low­set ears, macrostomia, high arched palate and prognathism. Nasal deformities, choanal atresia[5] and cleft palate, thoughre ported occasionally with this syndrome,[6] were not seen in our cases. Superior prognathism is an important diagnostic feature in oxyce­phaly[4]. The prominent upper jaw in both our patients indicates the basic relationship of cloverleaf skull syndrome to oxycephaly.

A variety of systemic anomalies including achondroplasia[1],[2],[7],[8],[9] and ankylosis[2],[5],[6],[8],[10] have been reported earlier-the systemic examination proved unremarkable in our cases. The family. histories were also non­contributory, though a dominant mode of inheritance has been suggested in the litera­ture[6],[9]. A large number of the cases reported from various countries were of German descent[6].

The severe proptosis may lead to corneal exposure and even result in loss of the eye­ball[6]. The globe may become luxated[5]. The antimongoloid slants[1] and hypertelorism[8] seen in both our cases have occasionally been noted earlier.

The exact aetiopathogenesis of this striking syndrome is not very clear. Abnor­mal development and persistence of the embryonic vascular plexus of the inner periosteum of the skull and dura have been blamed, altering the normal ossification and sutural organisation of the cranial bones[1],[7].

An aberrant ossification centre in the parietal bone and the interparietal portion of the occipital, bone has also been considered primarily responsible for the cloverleaf skull syndrome, the third or turret lobe being formed from this aberrant bony unit[7],[10]. Whatever be the embryogenetic fault, all the cases reported have documented a premature closure of the coronal and lambdoidal sutures, and in some the squamosal[8] and saggital[5],[8] sutures also. As such the clover­leaf skull syndrome seems to be a specific type of craniofacial dysostosis, mani festing at birth. The very premature and severe synostosis is invariably associated with inter­nal hydrocephalus, the mechanism of which may be connected with distortion of the brain stem and cerebellum with the resulting occlusion of the foramina of Magendie and Luschkal[1],[7]. The premature synostosis and hydrocephalus lead to protrusion of the brain through whichever sutures that allow expan­sion of the cranium.

Though the cloverleaf skull syndrome probably represents the severest form of craniosynostosis, its unique trilobed appear­ance differentiates it from the classic forms of craniosynostosis. Moreover, the charac­teristic bullet head of oxycephaly, typical parrot nose of Crouzon's disease and the syndactyly diagnostic of Apert's syndrome are all prominently absent in the Kleeblattsc­hadel syndrome.

However, the basic ocular features of proptosis with attendant corneal problems, and compression of the optic nerves are similar to croniosynostosis 3, except that the deleterious effects are more severe and may manifest very early. The cornea requires adequate protection, with tarsorrhaphy if necessary[5],[6]. Even if timely cranioplasty has been undertaken, the role of routine ophthalmoscopic evaluation and regular follow ups in association with radiological and CT evaluation cannot be underestimated, as clearly evidenced by the early detection of incipient papilloedema in case I and the sus­pected papilloedema in case 2. The criteria for diagnosing `suspected' and `incipient' papilloedema in this age group have been detailed in a previous publication[11], where the significance of venous engorgement as an early indicator has been emphasised. This important aspect of monitoring the fundus picture has not been stressed upon in the existing literature on the cloverleaf skull syndrome.

Neurosurgical intervention and decom­pression, if performed early enough, may be of some help in normalising the shape of the skull and effectively reducing ocular problems, as evidenced in our cases. In spite of all the diagnostic and, therapeutic facilities, the surgery itself and the long term follow up of such patients are fraught with difficulties, and are not very encourag­ing[6]. The more radical recent procedure of subtotal neonatal calvariectomy[5],[12] may offer some cosmetic and functional hope in this grotesque syndrome.


  Summary Top


Two cases of the rare Kleeblattschadel (cloverleaf skull) syndrome are described, and its possible aetiopathogenesis discussed. We believe this to be the first report of this condition in the Indian ophthalmic literature. Besides protecting the cornea, the ophthalmo­logist's vital role in regular fundus evaluation and especially in the early diagnosis of papilloedema is emphasised, to allow timely neurosurgical intervention and a better prognosis.

 
  References Top

1.
Holtermuller, K. and Wiedemann, H.R., 1960, Med' Monalsschr., 14 : 439.  Back to cited text no. 1
    
2.
Comings, D.E., 1965, J. Pediatr., 67:126.  Back to cited text no. 2
    
3.
Duke-Elder, S., 1964, Craniofacial Dysostoses. In : Duke-Elder, S., ed., System of Ophthalmology, Vol. III, Part 2, Henry Kimpton, London, pp. 1038­1052.  Back to cited text no. 3
    
4.
Franceschetti, A., 1968, Craniofacial Dysostoses. In : Symposium on surgical and medical management of congenital anomalies of the eye. Trans. New Orleans Acad. Ophthalmol., C.V. Mosby Co., St. Louis, pp. 77-80.  Back to cited text no. 4
    
5.
Rogers, G.L.. Penland, W., Sayers. M.P. and Kosnik, E., 1981, Annals Ophthalmol., 13 :1173.  Back to cited text no. 5
    
6.
Watters, E.C., Hiles, D.A., and Johnson, B.L., 1973, Amer. J, Ophthalmol., 76: 716.  Back to cited text no. 6
    
7.
Liebaldt, G., 1964, Ergeb. Allg. Pathol. Anat. Pathol., 45: 23.  Back to cited text no. 7
    
8.
Feingold, M., O' Connor, J.F., Beckman, M., and Darling, D.B., 1969, Amer. J. Dis. Child., 118:589.  Back to cited text no. 8
    
9.
Partington, M.W., Gonzales-Crussi, F., Khakee, S.G, and Wollin, D.G., 1971, Arch. Dis. Child., 46 : 656.  Back to cited text no. 9
    
10.
Angle, C.R., McIntire, M.S., and Moore, R.C., 1967, Am. J. Dis. Child. 114:198.  Back to cited text no. 10
    
11.
Ghose, S., 1983, Trans. Ophthalmol. Soc. U.K., 103 : 217.  Back to cited text no. 11
    
12.
Hanson, J.W., Sayers, M.P., Knopp, L.M., Macdonald, C., and Smith, D.W., 1977, J. Pediatr., 91 : 257.  Back to cited text no. 12
    


    Figures

  [Figure - 1], [Figure - 2], [Figure - 3]



 

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