Delleman–Oorthuys syndrome (oculocerebrocutaneous syndrome) in a Nigerian child: a case report

Abstract

Background:Delleman–Oorthuys syndrome, also known as oculocerebrocutaneous syndrome, is a rare congenital anomaly with ocular, cerebral and cutaneous manifestations. So far, only 40 cases have been described.Clinical case:A 3-year-old female Nigerian child with no identifiable left eyeball, multiple left-sided facial skin defects and delayed developmental milestones but otherwise uneventful medical and family history was evaluated at the Ophthalmology and Paediatric Neurosurgery in Ibadan, Nigeria. Besides the mentioned defects that were present since birth, brain imaging revealed several brain abnormalities including intracranial cysts. Global hyperreflexia and bilateral flexor plantar response were observed upon clinical examination. Left micro-ophthalmia and orbital mass were detected. A histological assessment of the orbital mass revealed it to be rudimentary ocular tissue. The diagnosis of Delleman–Oorthuys syndrome was made based on the clinico-radiological features. The patient underwent a left-sided posterior fossa cystoperitoneal shunt. The left orbital mass was enuclated and the patient is currently awaiting left eyelid reconstruction and an orbital implant and repair of the left alar nasi cleft.Conclusion:To our knowledge, this is the first published report of Delleman–Oorthuys syndrome in a female child of West African descent. Given the variable manifestations of Delleman–Oorthuys syndrome, and overlap with other syndromes, the Delleman–Oorthuys syndrome may be underreported. Neuroimaging of patients with cutaneous tags, orbital cysts and micro-ophthalmia could reveal more cases.

Delleman-Oorthuys Syndrome: A Neurocutaneous Syndrome with a Congenital Eye Cyst

“…The brain, cutaneous and orbital malformations seen in the index case are consistent with the triad of Oculocerebrocutaneous syndrome [2,[4][5][6][7][8]. With this classical triad of orbital cyst, cerebral and cutaneous malformations characteristics of OCCS on the side as seen in this patient, is common in males and occurs sporadically with no family history and in product of non-consanguineous couple in virtually all documented cases as in the index patient.…”

“…This group of congenital abnormalities, has been named after the two authors that first described it (as Delleman-Oorthuys syndrome). Since the entity was described, several sporadic manifestations of the syndrome have been reported worldwide including reports from Nigeria [3,4]. The syndrome appears to have a male preponderance with an approximate male to female ratio of 2:1 but no known racial predilection [5].…”

Oculocerebrocutaneous Syndrome (Delleman Syndrome): A Case with a Novel Presentation of Orbital Involvement

“…e current case differs clinically from the previous cases regarding the morphology of the eye anomaly. Our case had rudimentary eye, which had been described in few cases [4].…”

Oculocerebrocutaneous syndrome (Delleman Oorthuys syndrome) associated with congenital glaucoma: A case report

“…Mishra and Luthra 4 did a review mentioning only 28 reported cases in the literature. In 2018, Badejo, Fasina, Balogun, et al 1 reported a case of Delleman Oorthuys in a Nigerian girl with typical findings. This was the last case reported in the literature.…”