Hoff Mann′s syndrome with unusually long duration: Report on clinical, laboratory and muscle imaging findings in two cases

Abstract

Two adult men presented with the rare Hoffmann's syndrome (HS). Case 1: A 35-year-old male patient had progressive stiffness of lower limbs of 13 years and generalized muscle hypertrophy and myalgia of 3 years duration. Had periorbital edema, dry skin, generalized muscle hypertrophy and spastic dysarthria with hoarseness. Muscle power was normal. Jaw jerk and deep tendon reflexes were exaggerated. Case 2: A 24-year-old male patient presented with muscle hypertrophy from childhood, slowness in motor activities and hearing impairment. For 6 months, he had severe muscle pains, cramps and further increase in hypertrophy. He had yellow tinged, dry skin, hoarseness of voice, gross muscle hypertrophy and minimal weakness. Both had markedly elevated serum creatine kinase (CK) levels and high thyroid stimulating hormone, low free triiodothyronine and free thyroxine levels. Levothyroxine treatment demonstrated remarkable reduction in muscle bulk at 2 months in both and no symptoms at 6 months. Magnetic resonance imaging of lower limbs in both cases revealed almost identical features with involvement of the muscles of posterior and adductor compartment of thighs and posterior and lateral compartments of the legs. Differential diagnosis of long duration muscle pseudohypertrophy and elevated CK levels should include HS.

Rheumatic manifestations of hypothyroidism

“…Наблюдаемое при этом увеличение количества мышечной ткани не сопровождается повышением мышечной силы, поэтому часто данное состояние описывается как псевдогипертрофия. Несмотря на прогресс в диагностике и лечении гипотиреоза, синдром Хоффмана встречается и в настоящее время [37].…”

Hoffmann syndrome : about two new cases

“…Le syndrome de Hoffmann, initialement décrit par Johann Hoffmann en 1897, est caractérisé par une hypothyroïdie se manifestant par une raideur musculaire et une pseudo-hypertrophie 5 . Cette atteinte peut toucher plusieurs groupes musculaires, notamment ceux de la cuisse, du bras, de l'avant-bras, du dos et surtout du mollet 7 . D'ailleurs, le muscle gastrocnémien semble être le muscle le plus fréquemment et le plus intensément atteint à l'imagerie par résonance magnétique (IRM) 8 .…”

Hoffmann's Syndrome associated with Autoimmune Hypothyroidism: a Case Report

“…After a month his TSH serum concentration was 3.64 mIU/mL and FT 4 was 1.4 ng/dL. During the therapy hypertrophy can be increased levels of muscle fiber size and number due to accumulation of glycosaminoglycans in Hoffmann's Syndrome [2,9].…”

“…Hoffmann's Syndrome which is one of these is a rare disorder in adults, first described by Hoffmann in 1897. It characterizes muscular complaints, pseudohypertrophy and hypothyroidism [2].…”

“…The most affected muscles are gastrocnemius, deltoid and trapezius [1][2][3]. Especially, presence of hypothyroidism can give rise to occur several symptoms in clinic such as fatigue, weight gain, cold intolerance, impaired memory, hoarseness, dry skin, muscle aches, tenderness, heart enlargement and myxedema coma [4].…”