Behrens-Baumann-Dust Syndrome

At a glance

Microphthalmos, Dandy-Walker anomaly, and ocular anomalies (optic disc atrophy, lid adhesion, and/or ankyloblepharon).

Synonym

Oculocerebral Dysplasia.

Incidence

Two sibs have been described.

Genetic inheritance

Autosomal recessive inheritance has been suggested.

Clinical aspects

The 16-year-old girl presented with bilateral microphthalmos, aplasia of the right optic nerve and a large cerebellar Dandy-Walker cyst. She was mentally normal and had no clinical sequelae from the Dandy-Walker cyst were mentioned. Her 13-year-old brother had unilateral optic nerve aplasia with ipsilateral cryptophthalmus and contralateral microphthalmos. He suffered from significant mental retardation.

Precautions before anesthesia

Routine preoperative assessment. Developmental delay combined with visual impairment may cause agitation and stress in the perioperative period; thus, anxiolytic and sedative premedication and/or presence of a parent (or primary caregiver) for induction of anesthesia may be beneficial. However, in the presence of increased intracranial pressure the benefits of sedation have to be carefully balanced against its adverse effects.

Anesthetic considerations

If a Dandy-Walker malformation is present with signs of compression and increased intracranial pressure, a lumbar puncture for spinal anesthesia is contraindicated. Anesthetic management must address the problem of raised intracranial pressure and cerebral perfusion pressure must be maintained at all times. No specific anesthetic implications are expected to result from the described ophthalmologic features.

Pharmacological implications

Avoid (or balance the benefits against the adverse effects of) drugs that potentially increase intracranial pressure (eg, nitrous oxide, succinylcholine, ketamine (when spontaneously breathing).

Other condition to be considered

• ☞HARD Syndrome (Walker-Warburg Syndrome; Warburg Syndrome; Cerebro-Ocular Dysgenesis [COD]; Cerebro-Ocular Dysplasia Muscular Dystrophy [COD-MD] Syndrome; Pagon Syndrome [different from Pagon-Bird-Detter Syndrome]; Chemke Syndrome): HARD is an acronym that stands for Hydrocephalus, Agyria, and Retinal Dysplasia. This autosomal recessive syndrome is a severe form of congenital muscular dystrophy, causes major neurologic impairments and is often fatal in the first years of life. It is characterized by severe microcephaly with lissencephaly Type II, obstructive hydrocephalus, agenesis of the corpus callosum, seizures, retinal dysplasia, microphthalmia, cataracts, and severe growth failure.

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