ABSTRACT
Studies have demonstrated that up to 17% of patients with pancreatic neuroendocrine tumours (pNETs) present pathogenic germline variants (PGVs) in several different genes, irrespective of family cancer history. Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome related to PGVs in the TP53 gene. A previous case of a pNET associated with LFS (c.1009C > T, p.R337C) has been reported. Here we report the first case of a patient with pNET and TP53 p.R337H and XAF1 p.E134* germline variants, expanding the knowledge of LFS and germline mutations in neuroendocrine tumours.
ABSTRACT
22q11.2 deletion syndrome (22q11.2DS) has a heterogeneous presentation that includes multiple congenital anomalies and immunodeficiency, one of the most striking features. Usually, it is characterized by T cell lymphopenia, B cell dysfunction and autoimmunity. Here, we describe an unusual case of 22q11.2DS in a patient with lymphoproliferative disorder, polyautoimmunity and hypogammaglobulinemia.
Subject(s)
22q11 Deletion Syndrome/complications , Agammaglobulinemia/etiology , Lymphoproliferative Disorders/etiology , 22q11 Deletion Syndrome/immunology , Adolescent , Agammaglobulinemia/immunology , Autoimmunity , Female , Humans , Lymphoproliferative Disorders/immunologySubject(s)
Exercise Tolerance/physiology , Multiple Acyl Coenzyme A Dehydrogenase Deficiency/diagnostic imaging , Muscular Diseases/diagnostic imaging , Respiratory Insufficiency/diagnostic imaging , Riboflavin/therapeutic use , Vitamin B Complex/therapeutic use , Adult , Diagnosis, Differential , Female , Humans , Multiple Acyl Coenzyme A Dehydrogenase Deficiency/drug therapy , Muscular Diseases/drug therapy , Respiratory Insufficiency/drug therapyABSTRACT
Richner-Hanhart syndrome (RHS, tyrosinemia type II) is a rare, autosomal recessive inborn error of tyrosine metabolism caused by tyrosine aminotransferase deficiency. It is characterized by photophobia due to keratitis, painful palmoplantar hyperkeratosis, variable mental retardation, and elevated serum tyrosine levels. Patients are often misdiagnosed with herpes simplex keratitis. We report on a a boy from Brazil who presented with bilateral keratitis secondary to RHS, which had earlier been misdiagnosed as herpes simplex keratitis
Subject(s)
Humans , Male , Child, Preschool , Keratitis, Herpetic , Keratoderma, Palmoplantar , Tyrosinemias/diagnosisABSTRACT
Richner-Hanhart syndrome (RHS, tyrosinemia type II) is a rare, autosomal recessive inborn error of tyrosine metabolism caused by tyrosine aminotransferase deficiency. It is characterized by photophobia due to keratitis, painful palmoplantar hyperkeratosis, variable mental retardation, and elevated serum tyrosine levels. Patients are often misdiagnosed with herpes simplex keratitis. We report on a a boy from Brazil who presented with bilateral keratitis secondary to RHS, which had earlier been misdiagnosed as herpes simplex keratitis.
