Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1
IMNEPD1 is a rare autosomal recessive disorder caused by sequence variant in the <i>PTRH2</i> gene and characterized by a peripheral neuropathy, cerebellar atrophy, intellectual disability, hearing loss, pancreatic insufficiency, hypothyroidism, and dysmorphic features. In addition to these classic manifestations of the disorder, severe dysphagia and respiratory insufficiency may develop over the course of the disease and should be systematically screened. <i>PTRH2</i> gene should be considered in patients with pancreatic lipomatosis and neuropathy.
Authors
- Emmanuelle Lacène
- Tanya Stojkovic (ORCID: https://orcid.org/0000-0002-4054-2838)
- Teresinha Evangelista (ORCID: https://orcid.org/0000-0002-1329-9131)
- Clément Guémy (ORCID: https://orcid.org/0000-0002-9522-9515)
- Norma B. Romero (ORCID: https://orcid.org/0000-0001-7714-0069)
- Philippe Latour (ORCID: https://orcid.org/0000-0002-2370-1331)
- Léo Vidoni
- Édouard Berling (ORCID: https://orcid.org/0000-0001-6236-0616)
- Klervie Loiselet (ORCID: https://orcid.org/0000-0002-4622-5534)
Institutions
- Inserm (FR)
- Université de Versailles Saint-Quentin-en-Yvelines (FR)
- Sorbonne Université (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Institut de Myologie (FR)
- Centre de Recherche en Myologie
Publication Details
- Journal
- Neurology Genetics
- Published
- 2024-08-23
- DOI
- https://doi.org/10.1212/nxg.0000000000200178
- Citations
- 1
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.44
Funders
- Institut National de la Santé et de la Recherche Médicale