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

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...

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Bibliographic Details
Published in:Annals of the Indian Academy of Neurology 2014-04, Vol.17 (2), p.217
Main Authors: Nalini, Atchayaram, Govindaraju, C, Kalra, Pramila, Kadukar, Prashanth
Format: Article
Language:English
Subjects:
Cardiac arrhythmia
Care and treatment
Case studies
Causes of
Complications and side effects
Diagnosis
Electrocardiography
Hearing loss
Hypothyroidism
Muscle diseases
Muscular system
NMR
Nuclear magnetic resonance
Pulmonary arteries
Skin
Ultrasonic imaging
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Summary: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.
ISSN:0972-2327
1998-3549
DOI:10.4103/0972-2327.132643