Severe Neonatal Cholestasis as an Early Presentation of McCune Albright Syndrome

McCune - Albright syndrome Claudia

McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. FD can involve a single or multiple skeletal sites and presents with a limp and/or pain, and, occasionally, a pathologic fracture. Scoliosis is common...

McCune-Albright syndrome

McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. FD can involve a single or multiple skeletal sites and presents with a limp and/or pain, and, occasionally, a pathologic fracture. Scoliosis is common...

McCune-Albright syndrome: Report of a case

  A 29- year old female with bone pain and history of precocious puberty was referred for bone scintigraphy. On physical examination café au lait macular spots were noted on her neck, buttocks and left leg. Bone scan showed multiple areas of intense increased activity which was in favour of polyostotic fibrous dysplasia. Considering the presence of polyostotic fibrous...

Neonatal McCune–Albright syndrome with systemic involvement: a case report

INTRODUCTION McCune-Albright syndrome is a rare sporadic disease characterized by fibrous bone dysplasia, café-au-lait skin spots and variable hyperfunctional endocrinopathies. McCune-Albright syndrome is caused by somatic postzygotic activating mutations in the GNAS gene that produce a broad spectrum of effects. CASE PRESENTATION We report a case of McCune-Albright syndrome with multi-organ ...

Persistent Diabetes Mellitus Postadrenalectomy in Neonatal McCune-Albright Syndrome