Acta Medica Iranica 2012. 50(12):831-835.

Brachydactylia As A Phenotypic Feature of Mitochondrial Disorder
Josef Finsterer, Walter Strobl

Abstract


Mitochondrial disorders (MIDs) may occasionaly go along with dysmorphism but hand deformities, as in the following case, have been only rarely reported. A 72 year old female with ptosis, hypoacusis, tremor, myopathy, diabetes mellitus, arterial hypertension, severe cardiac disease, pulmonary hypertension, gastric carcinoid, hepatopathy, generalised atherosclerosis, anemia, polyarthrosis, and hyperlipidemia, additionally presented with brachydactylia. Upon neurological work-up a MID was suspected. The family history was positive for diabetes but negative for brachydactylia or other features of a MID. MIDs may be associated with brachydactylia. Skeletal deformities may be a phenotypic manifestation of MIDs.


Keywords


Dysmorphism; Hand deformity; Mitochondrial disorder; Myocardial infarction; Myopathy; Multisystem disease; Respiratory chain

Full Text:

PDF

References


Finsterer J. Brachydactylia associated with mitochondrial disorder in an octogenarian. Kobe J Med Sci 2010;56:E239-41.

Debray FG, Morin C, Janvier A, Villeneuve J, Maranda B, Laframboise R, Lacroix J, Decarie JC, Robitaille Y,Lambert M, Robinson BH, Mitchell GA. LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency. J Med Genet 2011;48:183-9.

Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD. Infantile cardioencephalopathy due to a COX15 gene defect: report and review. Am J Med Genet A 2011;155A:840-4.

Kasiviswanathan R, Copeland WC. Biochemical analysis of the G517V POLG variant reveals wild-type like activity. Mitochondrion 2011;(in press)

Smuts I, Louw R, du Toit H, Klopper B, Mienie LJ, van der Westhuizen FH. An overview of a cohort of South African patients with mitochondrial disorders. J Inherit Metab Dis 2010;(in press)

Engelmann G, Meyburg J, Shahbek N, Al-Ali M, Hairetis MH, Baker AJ, Rodenburg RJ, Wenning D, Flechtenmacher C, Ellard S, Smeitink JA, Hoffmann GF, Buchanan CR. Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome. J Inherit Metab Dis 2008;31:540-6.

Ostergaard E. SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria. 2009 May 26. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews (Internet). Seattle (WA): University of Washington, Seattle; 1993-. Available from http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene ∂=sucla2-def

Martínez-García FA, Jiménez-Gómez MR, Morsi-Hassan O, Fortuna-Alcaraz ML, Sicilia-Guillen J, Fernández- Barreiro A. Acute peritonitis and small bowel diverticula in a patient with mitochondrial neurogastrointestinal encephalomyopathy. Rev Neurol. 2001;33:328-33.

Nemet P, Godel V, Lazar M. Kearns-Sayre syndrome. Birth Defects Orig Artic Ser 1982;18:263-8.

Vettori A, Bergamin G, Moro E, Vazza G, Polo G, Tiso N, Argenton F, Mostacciuolo ML. Developmental defects and neuromuscular alterations due to mitofusin 2 gene (MFN2) silencing in zebrafish: a new model for Charcot-Marie- Tooth type 2A neuropathy. Neuromuscul Disord 2011;21:58-67.

Sperl W, Jesina P, Zeman J, Mayr JA, Demeirleir L, VanCoster R, Pícková A, Hansíková H, Houst'ková H, Krejcík Z, Koch J, Smet J, Muss W, Holme E, Houstek J. Deficiency of mitochondrial ATP synthase of nuclear genetic origin. Neuromuscul Disord 2006;16:821-9.

Blanco-Barca O, Gomez-Lado C, Rodrigo-Saez E, Curros- Novos C, Briones-Godino P, Eiris-Punal J, Castro-Gago M. Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene. Rev Neurol 2006;43:341-5.

Spiegel R, Shaag A, Edvardson S, Mandel H, Stepensky P, Shalev SA, Horovitz Y, Pines O, Elpeleg O. SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis. Ann Neurol 2009;66:419-24.

Pihlajaniemi TL, Pirttiniemi P, Uusimaa J, Majamaa K. Craniofacial morphology in children of mothers with the m.3243A>G mutation in mitochondrial DNA. Cleft Palate Craniofac J 2010;47:234-40.

Finsterer J, Michalek-Sauberer A, Höftberger R. Malignant hyperthermia susceptibility in a patient with mitochondrial disorder. Metab Brain Dis 2009;24:501-6.

Yüksel A, Seven M, Cetincelik U, Yeşil G, Köksal V. Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency. Pediatr Neurol 2006;34:486-9.

Piazzi A, Berio A. Facial anomalies in patients with cytochrome-c-oxidase (COX) deficiency: a dysneurulation. Minerva Pediatr 2004;56:547-50.

Schlickum S, Moghekar A, Simpson JC, Steglich C, O'Brien RJ, Winterpacht A, Endele SU. LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. Genomics 2004;83:254-61.

Inbal A, Avissar N, Shaklai M, Kuritzky A, Schejter A, Ben-David E, Shanske S, Garty BZ. Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome. Am J Med Genet 1995;55:372-8.

Barnerias C, Saudubray JM, Touati G, De Lonlay P, Dulac O, Ponsot G, Marsac C, Brivet M, Desguerre I. Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis. Dev Med Child Neurol 2010;52:e1-9.

Spiegel R, Khayat M, Shalev SA, Horovitz Y, Mandel H, Hershkovitz E, Barghuti F, Shaag A, Saada A, Korman SH, Elpeleg O, Yatsiv I. TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome. J Med Genet 2011;48:177-82.

Molinari F, Kaminska A, Fiermonte G, Boddaert N, Raas- Rothschild A, Plouin P, Palmieri L, Brunelle F, Palmieri F, Dulac O, Munnich A, Colleaux L. Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. Clin Genet 2009;76:188-94.

Sproule DM, Dyme J, Coku J, de Vinck D, Rosenzweig E, Chung WK, De Vivo DC. Pulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA((Leu)) gene (m.3243A > G). J Inherit Metab Dis 2008;(in press)

Gómez-Lado C, Landín-Iglesias G, Pintos-Martínez E, Pastor-Benavent N, Eirís-Puñal J, Castro-Gago M. Pontocerebellar hypoplasia type 1: a case report. Rev,Neurol 2007;44:281-4.

Mancuso M, Ferraris S, Pancrudo J, Feigenbaum A, Raiman J, Christodoulou J, Thorburn DR, DiMauro S. New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. Arch Neurol 2005;62:745-7.

Coenen MJ, Antonicka H, Ugalde C, Sasarman F, Rossi R, Heister JG, Newbold RF, Trijbels FJ, van den Heuvel LP, Shoubridge EA, Smeitink JA. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N Engl J Med 2004;351:2080-6.

Grafakou O, Oexle K, van den Heuvel L, Smeets R, Trijbels F, Goebel HH, Bosshard N, Superti-Furga A, Steinmann B, Smeitink J. Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation. Eur J Pediatr 2003;162:714-8.

Jacobs TF, Plasschaert FS, Bossuyt GP, Szegedi LL, Herregods LL. Anaesthesia for a patient with Leigh's syndrome undergoing surgery for scoliosis. Acta Anaesthesiol Belg 2004;55:57-9.

Berio A, Piazzi A. A case of chronic progressive external ophthalmoplegia with severe scoliosis. Pediatr Med Chir 1995;17:455-8.

Sakiyama Y, Okamoto Y, Higuchi I, Inamori Y, Sangatsuda Y, Michizono K, Watanabe O, Hatakeyama H, Goto Y, Arimura K, Takashima H. A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy. Acta Neuropathol 2011;121:775-83.

Gómez-Puerta JA, Peris P, Grau JM, Martinez MA, Guañabens N. Camptocormia as a clinical manifestation of mitochondrial myopathy. Clin Rheumatol 2007;26:1017-9.

Vilela H, Garcìa-Fernández J, Parodi E, Reinoso-Barbero F, Durán P, Gilsanz F. Anesthetic management of a patient with MERRF syndrome. Paediatr Anaesth 2005;15:77-9.

Castro-Gago M, Alonso A, Pintos-Martínez E, Novo- Rodríguez MI, Blanco-Barca MO, Campos Y, Arenas J, Eirís-Puñal J. Multiple symmetric lipomatosis associated to polyneuropathology, atrophy of the cerebellum and mitochondrial cytopathy. Rev Neurol. 2003;36:1026-9.

Sumi K, Nagaura T, Itagaki Y, Inui K, Abe J. A case of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) with progressive cytochrome c oxidase deficiency. Rinsho Shinkeigaku 1989;29:901-8.


Refbacks

  • There are currently no refbacks.


Creative Commons Attribution-NonCommercial 3.0

This work is licensed under a Creative Commons Attribution-NonCommercial 3.0 Unported License which allows users to read, copy, distribute and make derivative works for non-commercial purposes from the material, as long as the author of the original work is cited properly.