|Year : 1986 | Volume
| Issue : 1 | Page : 61-66
The Kleeblattschadel (cloverleaf skull) syndrome
Supriyo Ghose, Usha Mehta
The Paediatric Ophthalmology Service, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, A.I.I.M.S. Ansari Nagar, New Delhi, India
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, A.I.I.M.S. Ansari Nagar, New Delhi 110029
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Ghose S, Mehta U. The Kleeblattschadel (cloverleaf skull) syndrome. Indian J Ophthalmol 1986;34:61-6
The Kleeblattschadel syndrome is characterised by a particularly severe form of dysostosis of the skull with very premature synostosis and associated with internal hydrocephalus. Though described in the German literature much earlier, the English terminology of "cloverleaf skull syndrome" was coined by Comings in 1.965. Very few reports of this entity are available, though the ophthalmic manifestations are striking and important.
| Case reports|| |
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.
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|| |
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,.
In true oxycephaly, all the craniofacial sutures are involved in premature synostosis. In its minimum degrees, the malformation is quite common. The skull, face and invaribly the orbits are prominently involved with secondary ocular features, necessitating active surgical intervention as an ameliorative measure,. "Kiceblattschadel" or "cloverleaf skull" syndrome may represent the severest and rarest form of oxycephaly with very prominent and severe synostosis. Till 1981, only about 30 cases have been documented in the world literature. The first report in the ophthalmic literature appeared in 1973. and since then hardly any have appeared in ophthalmic writings. 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, including lowset ears, macrostomia, high arched palate and prognathism. Nasal deformities, choanal atresia and cleft palate, thoughre ported occasionally with this syndrome, were not seen in our cases. Superior prognathism is an important diagnostic feature in oxycephaly. 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,,,, and ankylosis,,,, 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,. A large number of the cases reported from various countries were of German descent.
The severe proptosis may lead to corneal exposure and even result in loss of the eyeball. The globe may become luxated. The antimongoloid slants and hypertelorism 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,.
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,. 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 and saggital, 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,. 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,. 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, 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. The more radical recent procedure of subtotal neonatal calvariectomy, may offer some cosmetic and functional hope in this grotesque syndrome.
| Summary|| |
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|| |
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[Figure - 1], [Figure - 2], [Figure - 3]