Abstract
Oculocerebrocutaneous syndrome (OCCS), also known as Delleman syndrome (DS), is a rare congenital anomaly featuring focal skin defects, orbital anomalies, and central nervous system malformations. Diagnosis of Delleman syndrome is based on the triad of eye, central nervous system (CNS), and cutaneous defects and confirmed by magnetic resonance imaging. A 23-day-old girl was referred to our department for brain imaging. The infant had multiple cutaneous appendages on the right side of her face. There also was a fleshy mass measuring about 12 mm over her right eye. Brain MRI demonstrated the evidence of colpocephaly, agenesis of the corpus callosum, nodular subependymal heterotopias adjacent to the right lateral ventricle, aplasia of the cerebellar vermis, hypoplasia of the right cerebellar hemisphere, and widening of CSF space in the posterior fossa. There was also an exophytic skin lesion on her right cheek, measuring about 13 × 12 mm in size. In the orbital MRI, there was a mixed cystic solid mass measuring about 25 × 20 mm in her right orbital cavity. The orbital content was abnormal and suggestive of rudimentary orbit. Considering the findings, diagnosis of oculocerebrocutaneous syndrome (Delleman syndrome) was established for the patient. Because of the variations in orbital and CNS manifestations, all patients with clinical suspicion of DS should be assessed by brain and orbital MRI and managed by a pediatric neurologist and ophthalmologist.
Highlights
Oculocerebrocutaneous syndrome (OCCS), known as Delleman syndrome (DS), is a rare congenital anomaly featuring focal skin defects, some form of orbital anomaly and central nervous system malformation.is syndrome was described first in two Dutch children by Delleman and his colleagues in 1981, and since about 45 cases have been reported
Diagnosis of Delleman syndrome is based on the triad of eye, central nervous system (CNS), and cutaneous defects and confirmed by magnetic resonance imaging (MRI) which usually demonstrates multiple ocular, cerebral, and cerebellar cysts and malformations [2]
Case Reports in Pediatrics fleshy mobile, skin-colored mass measuring about 12 mm over her right cheek (Figure 1)
Summary
Oculocerebrocutaneous syndrome (OCCS), known as Delleman syndrome (DS), is a rare congenital anomaly featuring focal skin defects, some form of orbital anomaly (microphthalmia/anophthalmia and orbital cysts) and central nervous system malformation (intracranial cyst). Is syndrome was described first in two Dutch children by Delleman and his colleagues in 1981, and since about 45 cases have been reported. Some of the newly reported cases are associated with vertebral abnormalities, hydrocephalus, cleft lip, cleft palate, and facial cleft [1]. Diagnosis of Delleman syndrome is based on the triad of eye, central nervous system (CNS), and cutaneous defects and confirmed by magnetic resonance imaging (MRI) which usually demonstrates multiple ocular, cerebral, and cerebellar cysts and malformations [2]. We recently studied a patient with all the clinical and radiological features of DS
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