Pathological fracture of the femur in Alagille Syndrome: A case report

Abstract

Alagille Syndrome is a rare autosomal dominant genetic disorder, occur only 1:70,000 in population, and characterized by reduced interlobular bile ducts, and resultant nutritional deficiencies associated with the inability to absorb fat-soluble vitamins such as vitamin D. Patients are at risk for secondary osteoporosis, rickets/osteomalacia, and ultimately may result in fracture. The majority of patients suffer from chronic cholestasis, which can have a variety of adverse effects on bone metabolism. Hypothyroidism has been described in some Alagille Syndrome patients, and eventually delayed puberty can occur. Two until fourteen percents of patients of Alagille syndrome will suffer from fractures, in which it primarily occurs in the lower limb long bones in the absence of significant trauma. This study aimed to present a rare case of pathological fracture of femur in Alagille syndrome patient and its management in our hospital.Six-year-old male with pain on his right thigh came to our ER after fell down while putting on his pants. He had been diagnosed with biliary atresia at the age of 3 months and underwent surgical bile duct reconstruction. In addition, he also suffered from congenital hypothyroidism and consequently, stunted growth. The pathological fracture of the femur was treated conservatively with hemispica cast. At 2 months follow up, there is already radiographic evidence of fracture healing occurred by secondary intention and callus formation.By ensuring adequate calcium and vitamin D intake, monitoring for vitamin D deficiency, monitoring for fragility fractures, and avoiding trauma-related accidents, a proper conservative treatment using hemispica cast could still always be considered for managing such diaphyseal fractures in Alagille syndrome, especially in relatively low-resource countries such as Indonesia.

Differences in Carrying Angle, Baumann’s Angle, Anterior Humeral Line and Dash Score between Children in the Age Group of Less than 5 Years and over 5 Years at 3 Months Post Open Reduction Internal Fixation Criss-Cross Wire Fracture Supracondylar Humerus Gartland Type III

“…In the study by [6] the incidence of cubitus deformity was reported varus reached 26.1%. Approximately 25% of patients treated with open reduction surgery experience a varus deformity which is thought to be caused by inadequate reduction [7]. Type III supracondylar fractures of the humerus are generally treated with operative measures with closed reduction or open reduction techniques accompanied by percutaneous pinning in medial, lateral or cross positions.…”