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At a glance

It is a rare genetic disorder characterized primarily by eye, skin, and brain malformations that affect almost uniquely males. The clinical features include orbital cysts, focal dermal hypoplasia, vertebral anomalies, craniofacial anomalies, and agenesis of the corpus callosum. Seizure is diagnosed in 50% of patients. The defects are often unilateral with the left side twice more affected than the right. The onset of the disease is at birth.

Synonyms

Delleman Syndrome; Oculocerebrocutaneous (OCC) Syndrome; Orbital Cyst with Cerebral and Focal Dermal Malformations.

History

This medical condition was first described in 1981 by J. W. Delleman and J. W. E. Oorthuys.

Incidence

Approximately 38 cases have been described in the medical literature since its discovery. Males are affected approximately 2.5 times more often than females.

Genetic inheritance

Most cases are sporadic and may result from mutation of a lethal gene compatible with survival only in the mosaic state. In a few cases, transmission may be autosomal dominant with variable penetrance.

Pathophysiology

Mechanism causing the anomalies is poorly understood. Abnormal development in week 5 or 6 of gestation could explain most of the symptoms. Several authors agree that, independent of the causal factor, the pathogenetic mechanism most likely is a disruption of the anterior neuroectodermal plate leading to neurocristopathy with primary craniofacial dysmorphogenesis.

Diagnosis

The most common features of Delleman Syndrome are orbital cysts, microphthalmia/anophthalmia, focal hypoplastic skin defects, skin appendages, and cerebral malformations. The triad of ocular, cutaneous, and cerebral features is considered characteristic for the syndrome, with the ocular findings being the most typical and consistent. However, the minimal diagnostic criteria for Delleman Syndrome include central nervous system (CNS) cysts or hydrocephalus, orbital cysts or microphthalmia, and focal skin defects. To differentiate this syndrome from encephalocraniocutaneous lipomatosis, orbital cysts and agenesis of the corpus callosum are the most reliable signs.

Clinical aspects

The CNS anomalies may include agenesis/hypoplasia of the corpus callosum, hydrocephalus, porencephaly, Dandy-Walker malformation, cerebral atrophy, arachnoid cysts, encephalocele, and meningocele. Pathologic changes affecting the eye are anophthalmia/microphthalmia and colobomata of eyelids and iris. Skin anomalies include auricular tags, periorbital cysts, pedunculated, hamartomatous (most often periorbital), skin appendages, café-au-lait spots, and focal dermal hypoplasia. Psychomotor retardation and seizures have been reported in most patients. Midline cleft lip/palate and bifid/fused ribs can be seen occasionally.

Precautions before anesthesia

Syndrome may go unrecognized, so silent neuroectodermal abnormalities may be present. Therefore, consider CNS imaging in patients with facial skin tags and orbital cysts. Assess neurodevelopment and seizure control. Ask about previous episodes suggestive of aspiration pneumonia and obtain a chest radiograph if in doubt.

Anesthetic considerations

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