Affiliations: Department of Child and Adolescent Neurology, National
Institute of Neurology, Tunis, Tunisia | Department of Neuroradiology, National Institute of
Neurology, Tunis, Tunisia | Department of Anatomopathology, Rabta Hospital, Tunis,
Tunisia
Note: [] Correspondence: Prof. Neziha Gouider-Khouja, Department of
Child and Adolescent Neurology, National Institute of Neurology, 1007 Tunis,
Tunisia. Tel.: +216 7 1578617, +216 9 8356690; Fax: +216 7 1573197; E-mail:
[email protected]
Abstract: Joubert syndrome and Joubert syndrome related disorders are rare
autosomal recessive disorders, clinically and genetically heterogeneous
characterized by cerebellar vermis hypoplasia and a peculiar midbrain-hindbrain
malformation the "molar tooth sign". Clinical picture is characterized by
hypotonia, ataxia, developmental delay, abnormal eye movements and occasionally
by abnormal respiratory pattern in the neonatal period. Combination of
additional features, such as polydactyly, ocular coloboma, retinal dystrophy,
renal disease, hepatic fibrosis, encephalocele, and other brain malformations
define various clinical subtypes. We report five cases (belonging to four
families) with associated elastopathy in one family. We discuss clinical
heterogeneity in particular the unusual association to elastopathy in one
family and absence of abnormal neonatal respiratory pattern in all five cases.
