Alagille Syndrome: A case report of a rare oral and multisystem manifestation

Alagille syndrome is an inherited multisystem disorder of autosomal dominant transmission. Its prevalence is estimated at 1 per 70,000 to 100,000 live births. We report the case of a young patient suffering from Alagille syndrome who consulted the center of diagnosis and dental treatment of Rabat - MOROCCO (CCTD). The general manifestations are facial dysmorphia, hepatic, cardiac, and ocular disorders. Hepatic cholestasis causes oral repercussions such as a yellow oral mucosa, hypomineralization of the teeth, and a high tendency to dental caries. The management of such a patient requires the knowledge of the general health of the patient, therefore collaboration with the attending physicians, the establishment of rigorous oral hygiene, personalized prophylaxis with a consequent contribution of fluorine.

Alagille Syndrome: An ultrafiltration dilemma

Alagille syndrome (AGLS) is a rare genetic disorder caused by mutations in the Notch signaling pathway. Multiple organ dysfunction is frequent despite phenotypic variability. We report the case of an AGLS patient with right heart failure and persistent fluid overload who started peritoneal ultrafiltration, without initial benefit. Possible pathophysiological mechanisms related to the underlying genetic condition, namely vascular abnormalities, that could help explain the poor ultrafiltration are provided, while other ultrafiltration failure causes are briefly discussed. New evidence is necessary for a better understanding of this syndrome in PD modality.

Neuroradiological findings in Alagille syndrome

Alagille syndrome (ALGS) is a multisystemic disease caused by mutations in genes of Notch pathway, which regulates embryonic cell differentiation and angiogenesis. Clinically, ALGS is characterized by cholestasis, cardiac defects, characteristic facial features, skeletal and ophthalmologic abnormalities. The aim of this review is to illustrate neuroradiological findings in ALGS, which are less well-known and prevalent, including cerebrovascular anomalies (such as aneurysms, dolichoectasia, Moyamoya syndrome and venous peculiarities), Chiari 1 malformation, craniosynostosis, intracranial hypertension, and vertebral anomalies (namely butterfly vertebra, hemivertebra, and craniocervical junction anomalies). Rarer cerebral midline malformations and temporal bone anomalies have also been described.