Background: Hypothyroidism is frequently associated with muscular disorders and sometimes with moderately elevated levels of muscle enzymes. On the other hand, neuromuscular manifestations are rarely the only symptoms/signs present. KocherDebréSemelaigne syndrome is a myopathy of hypothyroidism in childhood characterized by muscular hypertrophy. Rhabdomyolysis due to hypothyroidism is very rare. A very high creatinine kinase level in the range seen with inflammatory myopathy is a rare finding also.
Objective and hypotheses: We present a case of KocherDebréSemelaigne syndrome with rhabdomyolysis secondary to Hashimotos thyroiditis.
Method: A 15-year-old boy was admitted to our clinic complaining of lethargy, dry coarse skin, swelling of hands and feet, and muscular symptoms simulating poly/dermatomyositis. His calf muscles were hypertrophied with minimal proximal muscle weakness in the lower limbs. He had massively elevated creatine kinase levels and high creatinine levels. Hypothyroidism was suspected and confirmed with thyroid function tests.
Results: The patient was treated with intravenous fluids and was commenced on thyroxine replacement therapy. All clinical and laboratory findings reversed on treatment of hypothyroidism. The response to the therapy strongly suggested that KocherDebréSemelaigne syndrome was the underlying etiology.
Conclusion: Serum TSH levels should be routinely determined in all patients with muscular symptoms and/or elevation of creatine kinase and creatinine, keeping KocherDebréSemelaigne syndrome in mind.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology