Nail-patella syndrome (NPS) has not been described to be associated with a respiratory chain disorder (RCD) before. In a 42-year-old man with the typical phenotype of an NPS, weakness and wasting of the shoulder girdle muscles, muscle cramps, fatigability, hyperhidrosis, chest pain and creatine kinase elevation were observed. Echocardiography revealed left ventricular hypertrabeculation. Needle electromyography was myopathic, lactate stress testing was abnormal, muscle biopsy showed typical features of an RCD and mtDNA analysis revealed the A3243G MELAS mutation. In conclusion, this case demonstrates that NPS may be randomly associated with RCD. NPS patients should undergo detailed cardiological and neurological investigations, in order not to overlook a double trouble partially mimicking NPS.

Keywords:
Mitochondria, Genetics, Muscle, Echocardiography
1.
Duba HC, Erdel M, Loffler J, Wirth J, Utermann B, Utermann G: Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier. Eur J Hum Genet 1998;6:75–79.
2.
Feingold M, Itzchak Y, Goodman RM: Ultrasound prenatal diagnosis of the nail-patella syndrome. Prenat Diagn 1998;18:854–856.
3.
Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel R, Cole W, Johnson RL, Lee B: Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet 1998;19:47–50.
4.
McIntosh I, Dreyer SD, Clough MV, Dunston JA, Eyaid W, Roig CM, Montgomery T, Ala-Mello S, Kaitila I, Winterpacht A, Zabel B, Frydman M, Cole WG, Francomano CA, Lee B: Mutation analysis of LMX1B gene in nail-patella syndrome patients. Am J Hum Genet 1998;63:1651–1658.
5.
Finsterer J, Eichberger H, Jarius C: Lactate stress testing in 54 patients with mitochondriopathy. Eur Arch Psych Clin Neurosci 2000;250:36–39.
6.
Finsterer J, Shorny S, Capek J, Cerny-Zacharias C, Pelzl B, Messner R, Bittner RE, Mamoli B: Lactate stress test in the diagnosis of mitochondrial myopathy. J Neurol Sci 1998;159:176–180.
7.
Dubowitz V: Muscle Biopsy: A Practical Approach, ed 2. Philadelphia, Baillière Tindall, 1985.
8.
Lucas GL: Hereditary onycho osteodysplasia (nail-patella syndrome) masquerading as arthrogryposis. South Med J 1967;60:751–755.
9.
Camera G, Piccini A, Zuchinetti P, Pozzolo S: Pterigio dei comiti e polidatilia post-assiale alle mani come segni di onico-osteo displasia ereditaria: quatro casi familiari. Pathologica 1991;83:365–372.
10.
Taor WS: Disorders of the patella. Practitioner 1981;225:155–162.
11.
Fidalgo-Valduezza A: The nail-patella syndrome: A report of three families. J Bone Joint Surg Br 1973;55:145–162.
12.
Morgan-Hughes JA: Mitochondrial diseases; in Engel AG, Franzini-Armstrong C (eds): Myology: Basic and Clinical. New York, McGraw-Hill, 1994, p 1610.
13.
Servidei S: Mitochondrial encephalomyopathies: Gene mutation. Neuromusc Disord 1999;9:IX–XIV.
14.
Finsterer J, Stöllberger C: Hypertrabeculated left ventricle in mitochondriopathy. Heart 1998;80:632.
15.
Stöllberger C, Finsterer J, Keller H, Mamoli B, Slany J: Progression of cardiac involvement in patients with myotonic dystrophy, Becker’s muscular dystrophy and mitochondrial myopathy during a two-year follow-up. Cardiology 1998;90:173–179.
16.
Niaudet P: Mitochondrial disorders and the kidney. Arch Dis Child 1998;8:387–390.
© 2001 S. Karger AG, Basel
2001
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.