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
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.
Antinolo G, Rufo M, Borrego S, et al: Megalocornea-mental retardation syndrome: An
additional case. Am J Med Genet
Neuhäuser G, Kaveggia EG, Opitz JM: The BD syndrome. A “new”
multiple congenital anomalies/mental retardation syndrome with athetoid
cerebral palsy. Z Kinderheilkd
Neuhäuser G, Kaveggia EG, France TD, et al: Syndrome of mental retardation,
seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited.