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

Authors

  • Ajinkya Patil Department of Pediatrics, Bharati Vidyapeeth University Medical College, Pune, Maharashtra, India
  • Rahul Jahagirdar Department of paediatrics, Bharati Vidyapeeth university medical college, Pune, Maharashtra, India
  • Kavita Srivastava Department of Pediatrics, Bharati Vidyapeeth University Medical College, Pune, Maharashtra, India
  • Sanjay Mankar Department of Pediatrics, Bharati Vidyapeeth University Medical College, Pune, Maharashtra, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20212064

Keywords:

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

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.

Author Biography

Rahul Jahagirdar, Department of paediatrics, Bharati Vidyapeeth university medical college, Pune, Maharashtra, India

Professor and pediatric Endocrinologist

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.

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Published

2021-05-25

Issue

Section

Case Reports