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At a glance

Microcephaly with severe mental retardation and spastic disturbances of movements with athetoid cerebral palsy, dwarfism, and facial dysmorphism. The etiology remains uncertain.

Synonyms

Kaveggia Syndrome; Mental Retardation-Athetosis-Megalocornea Syndrome; BD Syndrome.

History

It was first described by Elizabeth G. Kaveggia and Gerard Neuhäuser. The other name for this condition, term the BD Syndrome, was also derived from the initials of the last name of two described individuals (J.B. and D.D.).

Incidence

Approximately 20 cases have been reported.

Genetic inheritance

Only two of them were sporadic cases. It is possibly inherited as an autosomal recessive trait. However, the suspicion of a new autosomal dominant mutation has been considered.

Clinical aspects

Mental retardation may be mild to severe. Congenital hypotonia is one of the key features of this disorder. Other neurological findings include seizures, athetoid cerebral palsy with poor coordination, swallowing difficulties, and delayed myelination. Facial anomalies include macro- or microcephaly, frontal bossing, antimongoloid slanting of the eyes, epicanthal folds, widened nasal root, small mandible, and elongated upper lip. Megalocornea (corneal diameter ≥13 mm) is another key finding. (Mental retardation and megalocornea are the two minimal diagnostic criteria.) Iris hypoplasia may be present. Short stature, scoliosis, osteopenia, obesity, primary hypothyroidism, and fleshy ears have been described in some patients.

Anesthetic considerations

Airway management might be difficult, depending on the severity of facial malformations. Given the possibility of swallowing difficulties, it seems appropriate to do a rapid-sequence induction technique. Protect the eyes with lubricants and keep them shut with tape. Muscle relaxants should only be used once the airway has been secured. Hypotonia makes the use of a peripheral nerve stimulator almost mandatory. Avoid drugs that may potentially trigger seizures. Careful positioning and padding is required (spasticity, osteopenia). Cooperation in mental retardation patients may be limited and sedative/anxiolytic premedication as well as the presence of the primary caregiver for induction of anesthesia may be helpful. Postoperative mechanical ventilation should be considered.

Other conditions to be considered

  • Boucher Neuhäuser Syndrome: Rare disorder that affects movement, vision, and sexual development. It is characterized by a triad of clinical that include: ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy. It becomes apparent at any time from infancy to adulthood. Ataxia is often the first clinical feature and is present during adolescence. Vision problems or delayed puberty can also appear early in association with ataxia. The visual manifestations slowly worsen over the years and usually result in blindness. Other features include muscle spasticity, dysarthria, and cognitive impairment. It is caused by a mutation in the PNPLA6 gene.

  • ☞Kaveggia-Opitz Syndrome (FG Syndrome): We should not be confused with the Kaveggia-Neuhäuser Syndrome. The FG Syndrome is characterized with mental retardation, joint contractures, muscular ...

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