Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosi
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Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis Milan Zimmermann 1,2,3 & Natalie Deininger 4 & Sophia Willikens 1 & Tobias B. Haack 4,5 & Kathrin Grundmann-Hauser 4 & Berthold Streubel 6 & Melanie Schreiber 1,2 & Holger Lerche 1,2 & Alexander Grimm 1,2 Received: 22 September 2020 / Accepted: 9 November 2020 # The Author(s) 2020
Abstract Introduction/aims Hereditary transthyretin amyloidosis with polyneuropathy (hATTRPN) is an autosomal dominant multiorgan disorder manifesting in the third to fifth decade with the key clinical features of distal and painful sensory loss of the lower limbs and autonomic dysregulation. Motor neuropathy and cardiomyopathy evolve in the course of the disease. Pompe disease is an autosomal recessive disease leading to decreased levels of lysosomal enzyme acid α-glucosidase and proximal muscle weakness. We report the clinical features and diagnostic workup in the rare case of a patient with ATTR amyloidosis and late-onset Pompe disease, both genetically confirmed. Methods We performed a detailed clinical assessment, exome sequencing, and biochemical measurements. Results The patient presented with a distal, painful hypaesthesia of both legs, a cardiomyopathy, and a muscle weakness in the form of a girdle-type pattern of the arms and legs at the beginning and a spreading to distal muscle groups in the course of disease. Discussion This study highlights the importance of searching for co-occurrence of rare monogenetic neuromuscular diseases, especially in cases in which all clinical features can be readily explained by a single gene defect. Keywords Pompe disease . Amyloidosis . Polyneuropathy . Transthyretin . Axonal degeneration
Introduction Hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) (OMIM 105210) is an autosomal dominant disorder mostly beginning in the third to fifth decade with a distal
* Milan Zimmermann [email protected] 1
Department of Neurology and Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Hoppe-Seyler-Str. 3, 72076 Tübingen, Germany
2
German Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany
3
Department of Neurodegenerative Diseases, University of Tübingen, Hoppe-Seyler-Str. 3, 72076 Tübingen, Germany
4
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany
5
Center for Rare Diseases, University of Tübingen, Tübingen, 72076 Tübingen, Germany
6
Institute for Pathology, Medical University of Wien, 1090 Wien, Austria
sensory loss of the lower limbs, accompanied by burning feet, predominant vegetative dysregulation, and also a distal predominant motor neuropathy over the course of the disease. Electrophysiological examinations in endemic countries like Portugal often point towards a length-dependent small-fiber polyneuropathy [2]. A therapeutic option is the oral treatment with tafamidis, which stabilizes the tetramer
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