Multiple congenital anomaly syndrome mainly affecting
the central nervous system (CNS), eyes, and skin.
Delleman Syndrome; Oculocerebrocutaneous (OCC) Syndrome;
Orbital Cyst with Cerebral and Focal Dermal Malformations.
Approximately 30 cases have been described. Males are
affected approximately 2.5 times more often than females.
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
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
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 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
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.
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.
Airway management will be difficult in
the presence of severe hydrocephalus and other anomalies, such as a high
arched palate. Watch for seizure activity under anesthesia, which may
manifest as unexpected autonomic changes. Muscle relaxants may mask seizure
activity. Seizures may be the cause of slow emergence from anesthesia and
predispose the patient to pulmonary aspiration. Postoperative apneic
episodes may be a sign of seizures, and apnea monitoring might be useful. In
a case report of anesthesia in a 2-month-old child with the syndrome, no
perioperative problems other than a suboptimal view on direct laryngoscopy
Be aware of interactions with
anticonvulsant drugs. Avoid potentially epileptogenic drugs.
Encephalocraniocutaneous Lipomatosis: This disease is now
considered to be a variant of Proteus syndrome, which is a congenital
hamartomatous disorder characterized by partial gigantism (hands and feet, ...