|Year : 2021 | Volume
| Issue : 1 | Page : 24-26
Delleman–Oorthuys syndrome: A case report of an atypical variant
Rakesh Shetty, Jaya Kaushik, Ankita Singh, Poninder Kumar
Department of Ophthalmology, Armed Forces Medical College, Pune, Maharashtra, India
|Date of Submission||12-Jan-2020|
|Date of Decision||18-Mar-2020|
|Date of Acceptance||02-Apr-2020|
|Date of Web Publication||10-Apr-2021|
Professor, Department of Ophthalmology, Armed Forces Medical College, Pune, Maharashtra
Source of Support: None, Conflict of Interest: None
A 4-year-old male child, born to nonconsanguineous parents, was brought with a history of a fleshy red mass in both eyes and abnormally shaped eyelids since birth. Evaluation revealed delayed developmental milestones and temporoparietal alopecia over the right side along with focal areas of hyperpigmented skin over the face, chest, back, and both upper limbs. Ocular evaluation revealed skin tags over the upper eyelids, epibulbar dermoid along with upper lid coloboma, and microcornea in both eyes. He had deformed temporoparietal bones on both sides. Magnetic resonance imaging brain revealed generalized cerebral atrophy with prominent Virchow–Robin spaces and enlarged ventricular system but atypically normal corpus callosum. He was diagnosed as an atypical variant of Delleman syndrome (a rare congenital disorder involving eyes, skin, and brain and comprising orbital cyst, eyelid colobomas, skin appendages, polymicrogyria as well as characteristic mid-hindbrain abnormalities). Multidisciplinary treatment approach and long-term neurological follow-up are recommended in these patients.
Keywords: Delleman–Oorthuys syndrome, enlarged ventricular system, epibulbar dermoid, eyelid coloboma, temporal alopecia
|How to cite this article:|
Shetty R, Kaushik J, Singh A, Kumar P. Delleman–Oorthuys syndrome: A case report of an atypical variant. J Clin Ophthalmol Res 2021;9:24-6
|How to cite this URL:|
Shetty R, Kaushik J, Singh A, Kumar P. Delleman–Oorthuys syndrome: A case report of an atypical variant. J Clin Ophthalmol Res [serial online] 2021 [cited 2021 Jun 21];9:24-6. Available from: https://www.jcor.in/text.asp?2021/9/1/24/313473
Among the rare causes of sporadic congenital ocular abnormalities (approximately only 40 patients have been reported in medical literature), Delleman–Oorthuys syndrome, which predominantly affects males, is characterized by microphthalmia or anophthalmia, orbital cysts, periocular cystic appendages, skin tags, focal dermal lesions, and cerebral abnormalities such as cerebral cysts, corpus callosum agenesis, and midbrain and hindbrain abnormalities., Here, we present the case of a 4-year-old male child who presented with epibulbar dermoid and upper eyelid colobomas to our center and on evaluation found to have features of Delleman syndrome.
| Case Report|| |
A 4-year-old male child, first product of term pregnancy born to healthy nonconsanguineous parents, was observed by his parents to have fleshy red mass over the superotemporal area of the bulbar conjunctiva in both eyes along with abnormally shaped eyelids since birth along with developmental history suggestive of delayed developmental milestones and intellectual disability. However, no history of ”absent eye,” orbital mass, or seizures was given by the parents. It was observed that the child had temporoparietal alopecia over the right side [Figure 1].
|Figure 1: A child has temporal alopecia along with eyelid colobomas and hyperpigmented lesions over the face and trunk|
Click here to view
Detailed ocular evaluation, performed under general anesthesia, revealed epibulbar dermoid in both eyes [Figure 2] and [Figure 3] along with upper lid coloboma and microcornea (right eye – 6 mm × 6 mm and left eye – 4 mm × 5 mm) and greater than 270° of limbal stem cell deficiency. Cutaneous findings included small nodular skin tags on upper eyelid inner margins [Figure 4] and focal areas of blaschkoid hyperpigmented skin over the face and upper part of the chest, back, and both upper limbs [Figure 5]. The child also had large frontal bone and deformed temporoparietal bones on both sides.
|Figure 2: Eyelid coloboma, microcornea, and epibulbar dermoid in the right eye|
Click here to view
|Figure 3: Eyelid coloboma, microcornea, and epibulbar dermoid in the left eye|
Click here to view
Central nervous system evaluation revealed normal power, tone, and bulk in the motor system but with exaggerated knee and ankle reflexes along with positive Babinski sign and clonus. Magnetic resonance imaging brain revealed generalized cerebral atrophy with enlarged ventricular system (left > right) and prominent Virchow–Robin spaces in the peritrigonal area. Interestingly, cerebral cysts, corpus callosum agenesis, and mid/hindbrain abnormalities typically associated with Delleman syndrome were absent in this case [Figure 6] as was the presence of orbital cysts, indicating that this might possibly be an incomplete variant of the syndrome.
|Figure 6: Magnetic resonance imaging brain showing cortical atrophy but normal corpus callosum|
Click here to view
| Discussion|| |
Delleman–Oorthuys syndrome, first described by Delleman and Oorthuys in 1981,,,, is a sporadically occurring congenital disorder hypothesized to be occurring from postzygotic mosaic variants in an X-linked gene. The disorder is characterized by a triad of involvement of the eyes, skin, and brain and hence is also called oculocerebrocutaneous syndrome. Ocular findings most commonly associated include orbital cysts with microphthalmia, colobomas of the eyelid, rarely iris, and less commonly persistent hyperplastic primary vitreous and cataracts. Cutaneous findings linked to the syndrome comprise hypoplastic or aplastic lesions characteristically occurring on the face or neck or on the scalp, small nodular skin tags, and pedunculated finger-like appendages, histologically identified as striated muscle hamartomas on the face usually periocularly and rarely on the trunk. Brain malformations exhibit a complex pattern and consist of cortical abnormalities and mid-hindbrain abnormalities, some of which have been now found to be pathognomonically associated with the syndrome. Cortical abnormalities include polymicrogyria, subcortical infolding heterotopia, and periventricular nodular heterotopia present mostly asymmetrically. These may be associated with corpus callosum agenesis, interhemispheric cysts, and enlarged dysplastic ventricles. Mid-hindbrain abnormalities consist of variable brainstem abnormalities including ”Giant tectum absent vermis” malformation which consists of enlarged, upturned tectum forming the roof of the aqueduct and absent vermis., Other features of Delleman–Oorthuys syndrome described in the literature are unilateral alopecia, craniofacial clefts, facial with generalized asymmetry, cryptorchidism, complex splenic cyst, and intra-abdominal neurofibroma. It is also known that individuals with this condition may experience seizures, intellectual disability, delayed developmental milestones, or psychomotor retardation. This report highlights the variable clinical presentation of Delleman syndrome,, as the child in our case had eyelid colobomas, nodular skin tags, temporal alopecia, hypoplastic skin lesions, and enlarged lateral ventricular system but lacked orbital cysts, striated muscle hamartomas, or characteristic mid-hindbrain abnormalities as described above. Clinical features of Delleman syndrome have been known to overlap with those of other established syndromes, sometimes constituting a diagnostic dilemma. These conditions include Goldenhar (oculoauriculovertebral) syndrome, Goltz–Gorlin syndrome (characterized by focal dermal hypoplasia), Hallermann–Streiff syndrome (oculomandibulodyscephaly), encephalocraniocutaneous lipomatosis (Haberland or Fishman syndrome), Aicardi syndrome, and periventricular nodular heterotopia – polymicrogyria syndrome., The management of Delleman–Oorthuys syndrome is multidisciplinary and could be symptomatic or supportive. Medical management in the form of antiseizure medications may be implemented for the treatment of seizures, when present. In the present case, spectacles were prescribed to the child after performing refraction under anesthesia. He was referred for pediatric and neurosurgical consultation to enable opportune management of neurologic sequelae. Multidisciplinary treatment approach and long-term neurological follow-up are recommended in these patients.,
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Delleman JW, Oorthuys~ JWE. Orbital Cyst in Addition to Congenital Cerebral and Focal Dermal Malformations: A New Entity? Clinical Genetics 1981:19;191-8; .
Moog U, Jones MC, Bird LM, Dobyns WB. Oculocerebrocutaneous syndrome: The brain malformation defines a core phenotype. J Med Genet 2005;42:913-21.
James W, Ferguson H, Hutchison T, Rouse B. Cerebral and cutaneous mal- formations: Confirmation of an association. Clin Genet. 1984;25:464-9.
D Wilson, L Traverse, Hall J, Rootman J. Oculocerebrocutaneous Syndrome. Am J Ophthalmol. 1985;99(2):142-148. doi:10.1016/0002-9394(85)90222-3.
Delleman JW, Oorthuys JW, Bleeker-Wagemakers EM, Ter Haar B, Ferguson JW. Orbital cyst in addition to congenital cerebral and focal dermal malforma-tions : A new entity. Clin Genet 1984;25:470-2.
Moog U, Dobyns WB. An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome. Am J Med Genet C Semin Med Genet 2018;178:414-22.
Col L, Mishra A, Luthra G, Baranwal CV, Aggarwal S. Delleman – Oorthuys syndrome : Oculocerebrocutaneous syndrome: Is this a variant ? Indian J Paediatr Dermatol 2015;16:176-8.
Tambe KA, Ambekar SV, Bafna PN. Delleman (oculocerebrocutaneous) syndrome: Few variations in a classical case. Eur J Paediatr Neurol 2003;7:77-80.
Goltz R, Peterson W, Gorlin R, Ravits H. Focal Dermal. Arch Dermatol. 1962;86:708-717.
Badejo OA, Fasina O, Balogun JA, Ogunbiyi JO, Shokunbi MT. Delleman-Oorthuys syndrome (oculocerebrocutaneous syndrome) in a Nigerian child: A case report. Ther Adv Ophthalmol 2018;10:1-6.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]