A Brief Focus on Joubert Syndrome and Related Acute Complications

Autor: Sara Manti, Eloisa Gitto, Ida Ceravolo, Alessio Mancuso, Antonio Ceravolo, Annamaria Salpietro, Giovanni Farello, Roberto Chimenz, Giulia Iapadre, Francesco Battaglia, Caterina Cuppari
Rok vydání: 2023
Předmět:
Zdroj: Journal of Pediatric Neurology. 21:003-007
ISSN: 1875-9041
1304-2580
DOI: 10.1055/s-0042-1760240
Popis: Joubert syndrome (JS) and related disorders are a group of congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign, a complex midbrain–hindbrain malformation. Moreover, JS may be associated with multiorgan involvement, mainly nephronophthisis, hepatic fibrosis, retinal dystrophy, and other abnormalities with both inter- and intra-familial variability. Therefore, these patients should be followed by both diagnostic protocol and multidisciplinary approach to assess multiorgan involvement. Here, we briefly summarize the possible complications in patients with JS.
Databáze: OpenAIRE