Kaveggia Syndrome

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

Kaveggia-Neuhäuser Syndrome; Mental Retardation-Athetosis-Megalocornea Syndrome; BD Syndrome. The name BD syndrome derives from the initials of the last name of the two described individuals (J.B. and D.D.).

Approximately 20 cases have been reported. Only two of them were sporadic cases. Possibly autosomal recessive inheritance. However, the suspicion of a new autosomal dominant mutation has been considered.

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 macroor 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, asteopenia, obesity, primary hypothyreoidism, and fleshy ears have been described in some patients.

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.