title: Hoffmann'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.
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
authors.forename: Atchayaram
authors.initials: A
authors.lastname: Nalini
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
authors.forename: C
authors.initials: C
authors.lastname: Govindaraju
authors.affiliation: Department of Endocrinology, M S Ramaiah Medical College and Memorial Hospital, Bengaluru, Karnataka, India.
authors.forename: Pramila
authors.initials: P
authors.lastname: Kalra
authors.affiliation: Department of Endocrinology, M S Ramaiah Medical College and Memorial Hospital, Bengaluru, Karnataka, India.
authors.forename: Prashanth
authors.initials: P
authors.lastname: Kadukar
keywords: Hoffmann's syndrome; Pendred syndrome; hypothyroidism; myopathy; pseudohypertrophy