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At a glance

Sporadic syndrome with cervical vertebral anomalies and optic atrophy.

Synonym

Congenital Optic Atrophy and Brachytelephalangy.

Incidence

Only two cases have been described in the medical literature.

Genetic inheritance

Suspected inherited as autosomal recessive due to consanguinity. Sporadic mutations are surely involved.

Clinical aspects

Initially described in a 16-year-old girl of normal intelligence with congenital bilateral optic atrophy and fine ocular nystagmus that was exacerbated by attempts at fixation. The central vision was rated as moderately preserved. The pupils were round with normal response to light. The optic disc was abnormally small and pale with no cupping. Posterior cervical hemivertebrae affecting C1 and C3-6 caused significant cervical kyphosis with surprisingly good neck mobility. Intervertebral disc spaces were preserved. The odontoid process was conical. Mild thoracic scoliosis and unilateral transitional lumbar transverse processes were noted. The hands were broad with short and stubby fingers with marked shortening of all terminal phalanges (brachyphalangy), except in the fifth fingers, which appeared normal. There was a leg length difference of 2 cm. Spastic quadriparesis made walking difficult for her. The second child with this syndrome was a 7-year-old boy who presented with short stature, hypoplasia of the cervical vertebral bodies with anterior wedging, and kyphosis. Mild facial dysmorphism consisted of midface hypoplasia with a depressed nasal root and bridge and notching at the intersection of the alae nasi and the nasal tip. He had bilateral optic atrophy, left esotropia, bilateral canthal folds, and fine horizontal nystagmus. Severe spasticity, hyperreflexia, ankle clonus, flexion contractures in the knees, and extension contractures in the ankles made independent walking impossible. Hand anomalies were similar to the index case, but also affected the fifth finger. In addition, he also had profound sensorineural hearing loss, which in combination with his visual impairment was thought to be at least in part responsible for his mild mental retardation. Posterior hemivertebra results from a failure of the anterior part of the vertebral body to develop. The absence of the anterior two-thirds of the vertebral body can lead to severe anterior wedging and kyphosis, particularly when involving more than one vertebra.

Precautions before anesthesia

In addition to routine preoperative assessment, the significance of cervical vertebral malformations should be examined with regards to the range of motion. Midface hypoplasia was mild and should therefore per se not interfere with airway management. Mild developmental delay in combination with visual and possible hearing 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. Regional anesthesia (particularly central neuraxial techniques) could be challenging.

Anesthetic considerations

Spastic quadriparesis/contractures may result in difficult positioning, thus careful padding is required. ...

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