Peña-Landín DM, Carmona-Vázquez CR, Medina-Crespo V, Gómez-Garza G, Dávila-Gutiérrez G

Language: Spanish
References: 20
Page: 112-118
PDF size: 541.17 Kb.

ABSTRACT

Introduction: The Joubert-Boltshauser syndrome (JBS) is an uncommon condition, with autosomal recessive inheritance pattern. Less than 10% show retrocerebellar cyst or abnormal collections of cerebrospinal fluid in the fourth ventricle or the posterior fossa associated to Dandy-Walker Malformation (DWM). The JBS is included in the dysgenesis spectrum of cerebellar-oculo-renal syndromes associated to ciliopathies.
Case Reports: We describe two cases of JBS with DWM. Both cases progressed with global psychomotor delay, abnormal breathing pattern, hypotonia and nistagmus. Brain magnetic resonance imaging (MRI) showed cerebellar vermis hypoplasia and elongation of the superior cerebellar peduncles “molar sign” and other dysgenesis. We compare the clinical and imaging features so far reported in the literature.
Conclusion: The JBS associated with Dandy -Walker malformation is uncommon and poorly recognized, the prenatal diagnosis by high-resolution ultrasound and fetal MRI is also possible. Suggesting possible mechanisms to explain the association.

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