Rare genetic disorder with blindness, deafness, developmental delay, and spasticity.
Nyssen-Van Bogaert-Meyer Syndrome; Opticocochleodentate Degeneration.
Less than 20 cases reported.
First described by Belgian neurologist Rene Nyssen and neuropathologist Ludo van Bogaert in 1934.
Most likely an autosomal recessive transmitted disease.
Dentate nucleus and medial lemniscal structures degenerate, and the patients present in infancy with muscular hypotonia or atonia, which changes in childhood to rigidity and spasticity quadriplegia. Patients are mentally retarded. Blindness occurs secondary to optic nerve atrophy and sensorineural deafness secondary to cochlear degeneration. Death usually occurs before age 10 years.
Communication with these patients may be difficult (blind, deaf, mentally retarded) and behavioral compliance decreased. Consequently, anxiolytic premedication may be helpful. However, presence of the primary caregiver at the bedside during induction of anesthesia may be even more helpful. Chest radiograph should be obtained preoperatively because recurrent pneumonias secondary to aspiration are common.
Succinylcholine should not be used to avoid a hyperkalemic response.
A, Ben Hamida
F: A clinicopathological observation of Nyssen-van Bogaert syndrome with second motor neuron degeneration: Two distinct clinical entities. Acta Neurol Scand
JE: Über eine kombinierte Systemerkrankung in Klein-Mittelund Endhirn. Arch Psychiat Nervenkr 182:731, 1949.
R, van Bogaert
L: La dégénérescence systématisée opticocochl éo-dentelée. Rev Neurol 2:321, 1934.