Delleman Oorthuys syndrome.

Oculocerebrocutaneous or Delleman syndrome is a rare congenital syndrome characterized by microphthalmia/anophthalmia with or without orbital cysts, focal skin defects, intracranial cysts and skin appendages. We here report a case of 1-year-old male child with periocular skin tags, lid colobomas, and dermal hypoplasia. The patient had delayed developmental milestones and history of tonic-clonic seizures. Magnetic resonance imaging of the head revealed a large arachnoid cyst, aplastic cerebellar vermis and polymicrographic pattern of the cerebral cortex. A complex cyst of spleen was also noted on abdominal ultrasonography. Orbital cysts depending on the size can be excised or left alone. Neuroimaging evaluation of patients with congenital orbital cysts and skin appendages is emphasized for early and appropriate management.

INTRODUCTION

Delleman syndrome is a rare sporadic disorder characterized clinically by skin appendages, dermal hypoplasia, orbital cysts, microphthalmia, and cerebral malformations.123 There has been a considerable overlap between Delleman syndrome and other syndromes such as Goldenhar and Haberland syndrome.45 Until date, very few cases are reported worldwide and the numbers from Indian subcontinent are even fewer, ours perhaps is one such report.

CASE REPORT

We report a case of 1-year-old male child presented to the ophthalmology OPD with abnormal appearance of both eyes since birth. He was born by an uneventful, full term delivery of a nonconsanguineous couple. At the time of birth, he had slight protrusion of both the eyes with abnormal lids, and bleeding off and on. The eyes continued to protrude until 3 months of age; the condition remains static ever since. He also developed tonic-clonic seizures after 3 months of age which still continued but decreased in frequency, and the last episode was 2 days before the presentation. He also reported having increased head circumference at birth that has not progressed since then. At the time of presentation, the child has abnormally protruded eyes with coloboma of middle 1/3 of right upper lid, and medial 1/2 of left upper lid; an abnormal skin fold present below the malformed left lid. A skin tag was present at the outer canthus of right eye [Figure 1b and c]. The conjunctiva on the right side appears slightly cystic, both the conjunctiva and cornea were keratinized because of exposure. No other ocular abnormality in the form of orbital cyst or microphthalmia was present. He had frontal bossing with depressed nasal bridge [Figure 1a] and also slight protrusion of tongue. There were focal patches of alopecia with dermal hypoplasia of scalp [Figure 2b and c]. Hyperpigmented patches were seen on the right side of the chest, abdomen and back with a slight extension onto the nape and right arm [Figure 2a]. Developmental milestones were evidently delayed. A thorough general and systemic examination did not reveal any abnormality except for decreased muscle strength. Baseline investigations were unremarkable, and an abdominal ultrasound showed a complex splenic cyst of 6 mm.

Figure 1

(a) Frontal bossing with depressed nasal bridge, keratinized conjunctiva and cornea of both eyes (black arrows) (b and c) periocular skin tag (white arrow), and colobomas of right upper lid and left upper lid (white arrows)

Figure 2

(a) Hyperpigmented patches involving right side of chest, abdomen and right arm (black arrows) (cutaneous hyperpigmentation has striking resemblance to incontinentia pigmenti) (b and c) alopecia and focal dermal hypoplasia with punched out appearance (white arrows)

Magnetic resonance imaging of the head showed aplasia of cerebellar vermis with enlarged superior vermian cistern. There was subependymal grey matter heterotopia of the postero-inferior aspect of the atrium of right lateral ventricle [Figure 3a]. An axial cut shows to a greater detail the abnormal appearance of the cortex, with a polymicrogyric pattern posteriorly in right posterior parietal and right occipital region [Figure 3b]. A small arachnoid space posteriorly at the level of infratentorial compartment was seen, which is consistent with a diagnosis of arachnoid cyst [Figure 3c].

Figure 3

(a) Aplastic cerebellar vermis with enlarged superior vermian cistern (black arrow), and subependymal grey matter heterotopia (white arrow) (b) polymicrogyric pattern in the right posterior parietal and right occipital cortex (white arrows) (c) small posterior fossa arachnoid cyst (black arrow)

DISCUSSION

Oculocerebrocutaneous (OCC) or Delleman syndrome was first reported in 1981 by Delleman and Oorthuys. The syndrome is characterized by orbital cysts, micropthalmia/anopthalmia, focal skin hypoplasia and skin tags, and cerebral malformations.123 Several other phenotypic features like vertebral anomalies, heart defects, facial dysmorphia (cleft lip and palate) have been included into the OCC spectrum over the years.4 In a review of 16 cases of OCC by Bleeker, over 85% of cases were reported to have ocular cysts, skin appendages, and focal dermal hypoplasia.6 Moog et al. in a review of 26 cases of OCC syndrome reported at least one of the following ocular defects: orbital cyst, eyelid coloboma, anophthalmia/microphthalmia with or without cyst to be present in all of the cases. They concluded these ocular features to be typical and constant for OCC syndrome.7 Neurological features of OCC syndrome includes cystic cavities in cerebral hemispheres, ventricular abnormalities, hydrocephalus and agenesis of corpus callosum which is described in half of the patients in a case review of 16 patients by Bleeker.6 Patients with neurological abnormalities manifests with seizures, developmental delay and motor retardation.

Few other syndromes like Goldenhar and Gotlz shares some of the features with OCC but differs in not having intracranial cysts, also, the skin tags in Goldenhar syndrome are preauricular as opposed to periocular tags in OCC.48 A considerable overlap has been described by many authors between OCC and encephalocraniocutaneous lipoma tosis (ECCL) or Haberland syndrome.5 Indeed, there is a certain amount of overlap between the two disorders, but characteristic skin hamartomas and cerebral calcification are more specific for ECCL, which are unknown in Delleman syndrome, and the absence of orbital dermoids, which are a characteristic feature of Delleman syndrome.

To conclude, we present a case of Delleman syndrome with periocular skin tags, lid colobomas, hypoplastic dermal patches with hyperpigmented areas, and characteristic cerebral lesions along with atypical polymicrographic appearance. A high degree of suspicion for cerebral malformation should be maintained in patients with congenital skin appendages and orbital cysts.