DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20212064

A rare cause of progressive gait abnormality in a case of Turner syndrome

Ajinkya Patil, Rahul Jahagirdar, Kavita Srivastava, Sanjay Mankar

Abstract


Turner syndrome is a commonly encountered chromosomal disorder affecting females, while Duchenne muscular dystrophy is a severe X-linked recessive disorder affecting males. Although theoretically possible, very few cases of DMD associated with Turner syndrome have been reported. We report an 8 year old girl who presented with a rare association of Turner syndrome mosaicism (45X/46XringX) with Duchenne muscular dystrophy.


Keywords


Muscular dystrophy, Turner syndrome, Gait abnormality, Weakness, Pediatrics

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References


Nielsen J, Wohlert M. Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in Århus, Denmark. Human Genetics. 1991;87(1):81-3.

Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LA, Ginjaar HB, Wapenaar MC, et al. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Human Genetics. 1989;45(6):835.

Dooley J, Gordon KE, Dodds L, MacSween J. Duchenne muscular dystrophy: a 30-year population-based incidence study. Clin Pediatr. 2010;49(2):177-9.

Ou Z, Li S, Li Q, Chen X, Liu W, Sun X. Duchenne muscular dystrophy in a female patient with a karyotype of 46, X, i (X)(q10). Tohoku J Experiment Med. 2010;222(2):149-53.

Kaczorowska E, Zimowski J, Cichoń-Kotek M, Mrozińska A, Purzycka J, Wierzba J, et al. Co-incidence of Turner syndrome and Duchenne muscular dystrophy-an important problem for the clinician. Dev Period Med. 2016;20(4):273-8

Verma S, Goyal P, Beam C, Shah D. T urner syndrome and D uchenne muscular dystrophy. Muscle Nerve. 2017;56(2):E12-5.