Anuruddhika Prasadi Hengedara Withana¹, Reha Balasubramanium¹, Vindya Subasinghe¹, Navoda Atapattu¹, Pyara Ratnayake¹
1- Lady Ridgeway Hospital, Sri Lanka
Corresponding Author:
Anuruddhika Prasadi Hengedara Withana (
anuruddhi16@yahoo.com)
Abstract Body
Introduction: Dual pathology in a clinical setting is rare. We report a case with 2 genetic conditions; Tubular Aggregate Myopathy (TAM) and hypoparathyroidism. TAM is an autosomal dominant congenital myopathy caused by variant in STIM1 gene. Genetic & rare diseases information center does not have epidemiological data of TAM Though the worldwide data together with TAM & hypoparathyroidism is lacking, prevalence in Japan is reported as 7 .2/million.
Case presentation: A 16-year-old girl, born to nonconsanguineous healthy parents without any family history , evaluated for proximal muscle weakness since age1 ½ yrs. At age 14, she had fractures of right femur and forearm & carpopedal spasms. On examination, had waddling gait, positive Gower’s sign, calf muscle-hypertrophy . The power was 4/5 on MRC scale. Reflexes normal. There was no upper limb involvement. Investigations revealed creatine phosphokinase-3710 IU/L and chronic atrophic changes with fatty replacement in muscles on Muscle MRI. Initial analysis of Whole exome sequencing (WES) picked up a heterozygous pathogenic variant inSTIM1 gene; c.326A>G (p. His109Arg). Reanalysis of WES had been requested following detection of low calcium (1.93mmol/L), increased phosphate (1.82mmol/l), low ALP (55U/L) and low normal PTH (2.61pmol/L), when a likely pathogenic variant in PTH gene (c.2T>C (p. Met1?)) has been identified. Calcium and vitamin D supplements started and continued with specific exercises.
Conclusion: This case report highlights the possibility of the coexistence of 2 genetically proven diseases. Precise identification of disease provides precision treatment for each disease with good outcome for the patient and to avoid diagnostic dilemma.