Perthes-like disease in Alagille syndrome

Abstract

We describe a unique case of a bilateral osteochondrosis of the femoral heads, similar to Perthes disease, in a boy affected by Alagille syndrome. This is a rare genetic syndrome, caused by vascular anomalies, and characterized by five main features: hepatic, cardiovascular, ophthalmological, skeletal malformations, and characteristic facial appearance. The most frequent skeletal finding is the 'butterfly vertebra'. We have followed the patient from the age of 5 years to the age of 20 years. We performed two bilateral valgus osteotomies when he was 10 years old to limit the progression of the deformity. We believe that the association of a bilateral osteochondrosis of the femoral heads with Alagille syndrome, a disease characterized by a vascular etiology, supports the hypothesis of angiogenic pathogenesis of Perthes disease.

Legg–Calvé–Perthes disease overview

“…, found that the rate of occurrence of LCPD in first, second, and third-degree relatives combined was 1:39, and, among siblings, 1:26; i.e., 35 and 50 times more respectively than in the general population [ 2 ]. LCPD has been linked to different genetic disorders such as Alagille syndrome, Albright hereditary osteodystrophy [ 59 , 60 ] and trichorhinophalangeal syndrome, which are characterized by craniofacial anomalies and skeletal abnormalities of variable degree [ 61 ]. Epigenetic changes could be involved in the onset of LCPD, as Zheng et al .…”