Delleman Oorthuys syndrome : ‘ Oculocerebrocutaneous syndrome ’

Delleman Oorthuys syndrome (oculocerebrocutaneous syndrome) is a rare, congenital sporadic disorder affecting the skin and central nervous system. We present the case of a onemonth-old male who presented with an orbital cyst in the left eye since birth along with other manifestations of this syndrome. The manifestations of this syndrome resemble other developmental disorders like Goldenhar and Goltz syndrome. Conservative management of the orbital cyst in these cases have been described. The need to diagnose this rare congenital anomaly with cerebral malformations as a separate entity is crucial in the management of these children.

[3][4] This entity, known as oculocerebrocutaneous syndrome, is also named after those who identified it.Since it was first identified, several sporadic manifestations of this syndrome have been reported.A brief report of our case with characteristic manifestations and management is presented.

Case Report
A one-month-old infant of healthy parents with a 39-yearold father and 26-year-old mother presented to us with leftsided ocular swelling which was first noticed at birth and had increased to the presenting size in one month [Fig.1].The child had a normal birth history.There was no history of consanguinity in the parents.There was no history of seizures.The child had one elder healthy sibling, male, aged six years.
A large cystic swelling in the child's left orbit was positive for transillumination test.Skin over the swelling was hypoplastic with prominent veins.There was no other area of skin hypoplasia elsewhere in the body.Multiple cystic appendages were present in the periorbital region.No globe was appreciated on the left side.Examination of the right eye was normal.B-scan ultrasonography of the left orbit showed fluid-filled cystic areas with no evidence of globe.
Systemic evaluation including neurological examination revealed no abnormality.Developmental milestones were normal for age.
On axial computed tomographic scan there was anophthalmia with a hypodense cystic area in the left orbit.This area had no intracranial communication [Fig.2].There was dilatation and separation of lateral ventricles with corpus callosum agenesis, with higher placed third ventricle with colpocephaly (focal ballooning of trigone and occipital horns of lateral ventricle).However there was no evidence of hydrocephalus [Fig.3].
The patient underwent a simple cyst aspiration (with 20 mL of fluid drained).There was a recurrence of cystic swelling at one month follow-up, and repeat cyst aspiration was done with addition of ethanolamine oleate sclerotherapy (0.8 mL).Excision of periocular skin appendages was done simultaneously.This was followed by placement of a conformer in the empty socket.No recurrence of cyst was noticed in one year of follow-up [Fig.4].

Discussion
Oculocerebrocutaneous syndrome (OCC), a rare genetic Orbit, Oculoplasty and Oncology Clinic, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India Correspondence to: Dr. Usha R Kim; Orbit, Oculoplasty and Oncology Clinic, Aravind Eye Hospital and Postgradute Institute of Ophthalmology, Madurai,Tamil Nadu, India.E-mail: usha@aravind.orgManuscript received: 12.01.08;[3][4] The orbital cyst may sometimes be sufficiently large to obscure the micropthalmic eye.
[3][4] Affected infants and children may demonstrate psychomotor retardation, seizures, and developmental delay.In our case, the patient did not have a history of seizures, and developmental milestones were normal for age.However, in all these cases a long-term follow-up is important to evaluate the patient's neurological function over time.
The cutaneous features include underdevelopment or absence of skin in certain localized regions (focal hypoplasia or aplasia).Characteristic of this syndrome are pink-colored or flesh-colored outgrowths of skin (cutaneous tag) within certain facial areas, most commonly the periocular area.
Lesions in the syndrome correspond to a disruption of embryonic development at a very early stage.Microphthalmos with cyst is related to incomplete closure of the embryonic fissure, normally occurring at five to six weeks, [5] with cystic extension of neuroretinal tissue through the defect into the orbit. [6]The distribution of accessory facial skin tags along the line of the fusion of facial buds suggests a similar problem with closure of these embryonic furrows. [5]Likewise, the agenesis of corpus callosum may be considered as a failure of commissural fibers to link up in the midline.
Most of the cases reported were sporadic with no reports of affected siblings.The inheritance pattern of OCC is variable, but the most common hypothesis put forward for this syndrome is mosaicism.
[7] However, the continuity and symmetry of lesions makes this uncertain.It could also be the result of autosomal dominant inheritance with variable expression.Consanguinity of phenotypically normal parents in many reports (autosomal recessive inheritance) makes it more complex.In our case parents had non-consanguineous marriage, which suggests that a new mutation may be responsible.
Delleman Oorthuys syndrome shows overlapping clinical features with Goldenhar syndrome and Goltz syndrome.However, in the Goldenhar syndrome, the characteristic feature is of epibulbar dermoid and skin tags in the preauricular region with vertebral anomalies and absence of cerebral cyst.Goltz syndrome is an X-linked dominant syndrome, occurring only in females (as it is lethal in males), may have microphthalmos and coloboma and focal dermal hypoplasia but the other characteristic feature is of polysyndactyly and poor dendition. [8]nagement of orbital cyst in previously reported cases was by aspiration of cyst followed by dissection and removal of cyst from surrounding periocular structures. [4]We used sclerosing agent ethanolamine oleate in our case.The use of the agent for orbitopalpebral cyst has been well documented [9] but its use for orbital cysts in Delleman Oorthuys syndrome has not been previously reported.Surgical removal of the cyst involves prolonged anesthesia and extensive dissection.Owing to the cerebral malformations and seizures associated with this syndrome, prolonged anesthesia can be difficult. [10]e, therefore, recommend the use of a sclerosing agent for conservative management of orbital cysts.
We also recommend a detailed neurological workup in these children; and if a cerebral or cerebellar manifestation such as hydrocephalus is present, it warrants urgent neurological opinion for surgery to prevent further neurological damage.Patients with congential cystic eye with periocular skin appendages with cerebral malformation should be assessed by the ophthalmologist, neurophysician and pediatrician in close coordination for proper management of these patients.

Ravindra Kumar Chowdhury, Navnit Gupta, Krishna Charan Padhy
An eight-year-old male child presented with drooping of the left eyelid with a history of penetrating injury of hard palate by an iron spoon seven days ago, which had already been removed by the neurosurgeon as the computed tomography scan revealed a spoon in the left posterior ethmoid and sphenoid bone penetrating into the middle cranial fossa.On examination, visual acuity was 20/20 in each eye and left eye showed total ophthalmoplegia.Oral cavity revealed a hole in the left lateral part of the hard palate.We managed the case with tapering dose of systemic prednisolone.The total ophthalmoplegia was markedly improved in one month.Cases of foreign bodies in the orbit with intracranial extension are not unusual, but the path this foreign body traveled through the hard palate without affecting the optic nerve, internal carotid artery or cavernous sinus makes an interesting variation.Cases of unexpected foreign body in the brain penetrating through the orbit presenting as total ophthalmoplegia have been reported in the literature. [¹ -3] However, a foreign body penetrating through the hard palate into the brain presenting as total ophthalmoplegia has never been reported as per our knowledge and thorough Medline search.The material of the penetrating foreign body was wood in the previous reported cases whereas in our case, we found it to be an iron spoon.

Case Report
An eight-year-old male child attended the outpatient department, complaining of drooping of the left eyelid [Fig.1] with a history of penetrating injury of the hard palate by an iron spoon seven days back.The injury had occurred while the child had fallen down with the spoon in his mouth.The iron spoon had already been removed by the neurosurgeon under general anesthesia elsewhere before the child presented to us.The X-ray and computed tomography (CT) scan revealed a radio-opaque spoon perforating the hard palate, passing through the left posterior ethmoid and sphenoid bone reaching into left middle cranial fossa [Fig.2].The patient did not complain of any fever, chill or rigor.There was no history of seizures or loss of consciousness.However, bleeding from the nose was reported by the patient.The drooping of eyelid was present before removal of the iron spoon as told by the child's father.This was confirmed by the discharge report of the neurosurgeon, mentioning the presence of ptosis of the left eye and total ophthalmoplegia before removal of the foreign body.
On local examination, the left eye showed complete ptosis with levator function of 2 mm [Fig.1].Orbital margins were normal.Extra-ocular movements were absent in all directions of gaze [Fig.1].The lid and conjunctiva were normal.Corneal sensation was impaired.The pupil was dilated and fixed.Both direct and consensual light reflex were absent in the left eye and were intact in the right eye.Other anterior segment and posterior segment details were within normal limits.The visual acuity in each eye was 20/20.Color vision of both eyes was intact.The cranial nerve examination of left eye showed third, fourth and sixth nerve palsy along with the involvement of the ophthalmic division of trigeminal nerve.
On examination of the oral cavity, a small full thickness hole of size 1.5 mm×1 mm in the left lateral part of hard palate was seen [Fig.3].Hemoglobin, differential count, total leucocyte count and fasting blood sugar were done which were within normal limits.
As the patient came to us with total ophthalmoplegia, we managed the case as left superior orbital fissure syndrome following trauma and started systemic prednisolone empirically with a dose of 1 mg/kg body weight and tapered over a period of one month.Marked improvement of symptoms with closure of the hole in the hard palate was seen in one month follow-up [Fig.4].

Figure 1 :
Figure 1: Clinical photograph of patient at one-month with congential cystic mass replacing the eyeball on left side with accessory periocular cystic appendages.

Figure 2 :
Figure 2: Axial CT scan of orbit showing hypodense cystic area on left side with anophthalmia

Figure 3 :Figure 4 :
Figure 3: Axial CT scan of ventricles showing dilatation and separation of lateral ventricles with corpus callosum agenesis with colpocephaly