Abstract
Hoffmann’s syndrome (HS) is a rare manifestation of hypothyroidism myopathy that presents with weakness, stiffness, and eventually pseudohypertrophy of muscles, especially calf muscles. We report a case of a 28-year-old male who presented with the history of generalized weakness with swelling in lower limbs and gradual progressive facial puffiness for the past few years. Physical examination of our patient showed diffuse bilateral pseudohypertrophy of deltoid and calf muscles with positive Gowers’ sign (GS). Laboratory results of low serum thyroid hormones and muscle biopsy report confirmed the diagnosis of HS. Pendred syndrome (PS) is a genetic disorder leading to congenital bilateral sensorineural hearing loss with mild hypothyroidism. On account of his congenital bilateral sensorineural hearing loss and negative serum anti-thyroid peroxidase antibodies (anti-TPO Ab), PS was declared as the cause of HS in this case. Our patient showed excellent response to levothyroxine therapy with progressive improvement in his symptoms. We outlined this case due to its rarity.
Highlights
A diverse array of presentations of hypothyroidism is seen in routine clinical practice
We report a case of a 28-year-old male who presented with the history of generalized weakness with swelling in lower limbs and gradual progressive facial puffiness for the past few years
We report a rare case of Hoffmann’s syndrome (HS) in a 28-year-old male secondary to Pendred syndrome (PS) which was effectively managed with thyroid hormone replacement therapy (THRT)
Summary
A diverse array of presentations of hypothyroidism is seen in routine clinical practice. An abnormality in thyroid hormone levels (THLs) results in the fluctuation of normal metabolism of the body, leading to a myriad of abnormalities. Along with decreased serum THLs and raised serum thyroid stimulating hormone (TSH), elevation in muscle enzymes is observed in HS indicating rhabdomyolysis [5]. We report a rare case of HS in a 28-year-old male secondary to Pendred syndrome (PS) which was effectively managed with thyroid hormone replacement therapy (THRT). Bulk showed diffuse bilateral pseudohypertrophy of the calf muscles (Figure 2) and the deltoids, tone was normal, power was 4/5, reflexes were 2+, and Gowers’ sign (GS) was positive. We further suspected PS as the cause of hypothyroidism in this patient based on his symptoms of congenital deafness and thyroid dysfunction. The patient is under regular follow up with improvements in his symptoms
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