Latin America’s first case of Perry syndrome and a new treatment option for respiratory insufficiency
- 226 Downloads
Perry syndrome is an autosomal dominant disorder characterized by rapidly progressive Parkinsonism, depression, weight loss, and central hypoventilation . Since the original publication in 1975, only 52 patients from ten families have been found, but no case had been reported from Latin America. The mean age of symptom onset is 48 years, and the mean disease duration is 5 years. Patients usually die of respiratory complications. Genome-wide linkage analysis identified disease-segregating mutations located in exon 2 of the dynactin 1 (DCTN1) gene on chromosome 2p13 .
A 56-year-old Colombian female was admitted to the Hospital Universitario San Ignacio, in Bogotá, Colombia, with acute deterioration of her respiration. On clinical examination, the patient displayed generalized anxiety and a severe depressive episode. She reported a weight loss of 15 kg in 6 months. The patient had a 2-year history of Parkinsonism, which comprised hypomimia, cogwheel rigidity in all...
KeywordsChronic Obstructive Pulmonary Disease Amyotrophic Lateral Sclerosis Acute Respiratory Failure Phrenic Nerve Respiratory Insufficiency
We thank the patient and her relatives for their assistance in realizing this manuscript.
Conflicts of interest
PT is supported by the Max Kade Foundation. ZKW is partially supported by the NIH/NINDS P50 NS072187, Mayo Clinic Center for Regenerative Medicine, and the gift from Carl Edward Bolch, Jr., and Susan Bass Bolch.
This study was approved by the Institutional Review Boards of Pontificia Universidad Javeriana, Bogotá, Colombia and the Mayo Clinic and was therefore been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki.
- 5.Domanski MC, Preciado DA (2012) Vocal cord collapse during phrenic nerve-paced respiration in congenital central hypoventilation syndrome. F1000Res. 1:42. doi: 10.12688/f1000research.1-42.v1
- 7.Approval Letter from the Department of Health & Human Services of the Food and Drug Administration to Synapse Biomedical Inc., NeuRx Diaphragm Pacing System™. Accessed 28 Sept 2011Google Scholar