REVESZ SYNDROME AND DIFFERENTIAL DIAGNOSIS OF PANCYTOPENIA AND APLASTIC ANEMIA - CASE REPORT

• Main Authors: Matjaž Homšak (Author), Mario Kulaš (Author), Tomaž Prelog (Author), Simona Lucija Avčin (Author), Tina Vipotnik Vesnaver (Author)
• Formato: Livro
• Publicado em: The Society for Children with Metabolic Disorders, 2023-10-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

We are presenting a case of a boy with Revesz syndrome, and through an example of his diagnostic pathway, we are presenting a differential diagnosis of pancytopenia and aplastic anaemia. Revesz syndrome is a rare and severe form of dyskeratosis congenita, belonging to the short telomere syndromes gr...