Abstract Library

#4652 Clinical response to somatostatin analogues in patients with DIPNECH: Findings from a new longitudinal registry

Introduction: Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) often presents with symptoms of cough and dyspnoea. DIPNECH remains understudied, and response to somatostatin analogues (SSAs) has been reported in a few small series.

Conference:

Presenting Author: Libre M

Authors: Libre M, Skotte E, Linden A, Wu J, Lippincott E,

Keywords: DIPNECH, somatostatin analogue,

#4651 Neuroendocrine hyperplasia of infancy (NEHI) vs. diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH): What is the difference?

Introduction: Neuroendocrine Hyperplasia of Infancy (NEHI) is a rare disease that belongs to the group of interstitial lung disease in children; characterised by hypoxemia, tachypnoea, and respiratory distress, often misdiagnosed as reactive airway disease or bronchiolitis. The diagnosis relies on histologic evaluation. We describe the clinical presentation and paraclinical characteristics of paediatric patients with NEHI.

Conference:

Presenting Author:

Authors: González Devia D, Restrepo Gualteros S, Ortiz Pérez M, Fernández Hernández B,

Keywords: Neuroendocrine Hyperplasia of Infancy, Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia, child,

#4470 Demystifying DIPNECH: Updates from a new longitudinal patient registry

Introduction: Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) was first characterised in 1992 with a case series describing 6 patients with neuroendocrine cell hyperplasia, with cough and dyspnoea. Since that time, DIPNECH has remained understudied.

Conference:

Presenting Author:

Authors: Skotte E, Linden A, Libre M, Lippincott E, Cass A,

Keywords: DIPNECH,

#4353 Familial inactivating glucagon receptor mutation resulting in pancreatic neuroendocrine tumours with metastatic potential, somatic MEN1 mutations, and a heterozygous phenotype

Introduction: Homozygous pathogenic glucagon receptor (GCGR) mutations cause a syndrome with pancreatic glucagon cell hyperplasia and neoplasia (GCHN) associated with Mahvash disease. This is an exceptionally rare autosomal recessive hereditary pancreatic neuroendocrine tumour (panNET) syndrome, with approximately ten cases documented in the literature.

Conference:

Presenting Author: Kuiper J

Authors: Kuiper J, de Herder W, Brahim Y, van Velthuysen M, Brosens L,

Keywords: glucagon receptor mutation, mahvash disease, glucagon cell hyperplasia and neoplasia, pancreatic neuroendocrine tumour, MEN1,

#4317 Late diagnosis of MEN2A syndrome: Ten cases in one family

Introduction: Multiple endocrine neoplasia type 2 (MEN2) constitutes a rare hereditary cancer syndrome affecting various endocrine glands.

Conference:

Presenting Author:

Authors: Asanova A, Shutova A, Dzeranova L, Przhiyalkovskaya E, Pigarova E,

Keywords: MEN2A, RET, MTC, THYROIDECTOMY,