Genetic disorder characterized by cerebral
malformations (vermis and brainstem) resulting in severe coordination
(ataxia) and breathing (sleep apnea, hyperpnea) disorders.
Cerebellar Vermis Agenesis Syndrome; Cerebelloparenchymal
Disorder Type IV; Chorioretinal Coloboma with Cerebellar Vermis Aplasia;
Coloboma, Chorioretinal with Cerebellar Vermis Aplasia; Joubert-Boltshauser
Peroxisomal disease named after Marie Joubert, a Canadian
neurologist who reported the first cases in 1989, in Montreal.
Autosomal recessive. Gene map locus is 9q34.3.
Typical “molar tooth” sign on axial magnetic resonance imaging (MRI) through the
malformed pontomesencephalic junction. Prenatal diagnosis may be suggested
by ultrasonographic features. Clinical features. Abdominal and cerebral
ultrasonography diagnosis in the neonatal period.
During the neonatal period, variable combinations
of central nervous system, eye, and renal abnormalities. Agenesis of the
cerebellar vermix with cystic dilatation of the fourth ventricle and poor
respiratory control. Episodes of tachypnea attacks alternating with apneas.
Severe psychomotor retardation and ataxia. Abnormal eye movements and
bilateral coloboma. Abdominal ultrasonographs reveal cortical renal cysts
and interstitial renal fibrosis. Other malformations, including polydactyly
(fingers and toes), cleft lip/palate, tongue malformations, and seizures,
may exist. Renal function may deteriorate. Prognosis is poor.
Check respiratory function, perform
pulmonary function tests if patient collaboration permits [forced vital capacity
(FVC), forced expiratory volume at 1 second (FEV1); maximal expiratory
flow rate (MEFR), residual volume (RV)]. Perform arterial blood gases in
room air in all cases. Check renal function by checking electrolytes, blood
urea nitrogen, and creatinine. The administration of premedication is unadvised.
Children with this syndrome have
abnormalities of respiratory control as a consequence of neuronal changes in the
brainstem and cerebellum. They are extremely sensitive to the respiratory
depressant effects of anesthetic agents, including nitrous oxide. Anesthesia
using inhalational induction, intermittent positive pressure ventilation,
avoidance of opioids, and close postoperative monitoring are recommended.
Opioid hypersensitivity. Respiratory
depression following nitrous oxide. Children very sensitive to the
depressant effects of any anesthetic agent.
Louis-Bar Syndrome: Autosomal recessive progressive
cerebellar ataxia with oculomotor apraxia, telangiectasias of the
conjunctivae, choreoathetosis, immunodeficiency, recurrent infections,
increased sensitivity to ionizing radiations, and tendency to develop
Barreirinho MS, Teixeira J, Moreira NC, et al: Joubert's syndrome: Report
of 12 cases. Rev Neurol
Habre W, Sims C, D'Souza M: Anaesthetic management of children with Joubert
syndrome. Paediatr Anaesth
Zamponi N, Rossi B, Messori A, et al: Joubert syndrome with associated
corpus callosum agenesis. Eur J Paediatr Neurol