- Joubert-Boltshauser syndrome
A rare familial syndrome characterised by episodic panting in the newborn and jerky eye movements in the neonatal period with later the development of mental retardation, cerebellar ataxia and episodic hyperpnoea with hyperventilation. Pathological features are brainstem malformation and agenesis of the vermis of the cerebellum. Both sexes affected, onset in early infancy. Mast patients die in infancy or early childhood. The syndrome is believed to be transmitted as an autosomal recessive trait. Etiology unknown.
In 1969 Marie Joubert et al described 4 siblings of consanguineous parents. Her first patient was a boy who was admitted to the Montreal Children's Hospital when he was six months old. This patient is still alive (2002).
The name Joubert’s syndrome was suggested by Eugen Boltshauser and Werner Isler in 1977.
- A.De Haene:
Agénésie partielle du vermis du cervelet à caractère familial.
Acta neurologica belgica, 1955, 55: 622-628
- M. Joubert, Jean-Jacques Eisenring, Frederick Andermann:
Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation.
Neurology, Cleveland, Ohio, March 1968, 18 (3): 302-303.
- M. Joubert, J.-J. Eisenring, Preston Robb, F. Andermann:
Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.
Neurology, Cleveland, Ohio, 1969, 19: 813-825.
- E. Boltshauser, W. Isler:
Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.
Neuropediatrics, 1977, 8: 57-66.