LETTERS Hoffmann’s syndrome in hypothyroid myopathy. ReportofacaseinanAfrican El Hassane Sidibe 1 , Abdoulaye Ndoye Diop 1 , Alé Thiam 2 , Pape Massar Diagne 2 , Anna Sarr 1 , Meissa Toure 3 , Moctar Diop 4 1 Service de médecine interne, centre Marc-Sankalé, clinique médicale II, BP 5062, Fann, Dakar, Senegal ; 2 clinique neurologique, CHU Fann, Dakar, Senegal ; 3 laboratoire de biochimie, Faculté de Médecine, UCAD, Senegal ; 4 institut Joliot- Curie, institut du cancer, Dakar, Senegal Africa / hypertrophic myopathy / myxedema / primary hypothyroidism Several forms of hypothyroid myopathy have been reported, including hypertrophic myopathy with clini- cal evidence of myotonia but no myotonic pattern on the electromyogram, hypertrophic myopathy without myotonia, myotonia without muscle hypertrophy, and muscle wasting. The last three forms are classically believed to be extremely uncommon, even today, although one-third of patients with hypothyroidism report muscle symptoms and 25% have abnormalities in muscle contraction-relaxation. Debré-Kocher- Semelaigne syndrome in children (muscle weakness, slow movements, and marked muscle hypertrophy) and Hoffmann’s syndrome in adults (muscular promi- nence, weakness, and stiffness) are two special patterns of hypothyroid myopathy. Muscle hypertrophy is an extremely rare finding in clinical practice; its cause is unknown, and it is thought to be worsened by low temperatures. Upon histologic examination, the muscle fibers seem edematous, the normal striations are absent, and mucin deposits are visible between the fibers [1]. We report the case of an adult with Hoffmann’s syndrome documented by enzyme assays, electromyo- gram tracings, and histologic studies. We discuss cur- rent knowledge on hypothyroid myopathy, particularly with muscle hypertrophy. CASE REPORT This 31-year-old mother of two stopped the hormone replacement therapy she had been prescribed for pri- mary hypothyroidism. She was admitted for gradual onset of severe weakness in all four limbs. The first symptom had been myalgia of the girdle muscles. Two weeks prior to her admission, she had started experienc- ing pain in the anterior chest and exertional dyspnea. At admission, she was unable to get out of bed. Her movements were infrequent and slow. Swelling of the face and loss of the lateral part of the eyebrows were noted. Her blood pressure was 100/60 mm Hg, her heart rate 100 beats/minute, her body temperature 37° C, her body weight 78 kg, and her height 167 cm. A striking finding was marked hypertrophy of the limb muscles predominating at the roots of the limbs. Muscle relaxation was abnormally slow. Myxedema was found upon percussion. The idiomuscular reflex and deep tendon reflexes were abolished. Sensation was normal. The heart sounds were muffled. A diffuse goiter was felt, with no other local abnormalities. A roentgenogram of the chest showed enlargement of the cardiac shadow (cardiothoracic index, 0.6). Low- wave amplitude and concordant repolarization disor- ders were noted on the electrocardiogram. Echocardiography demonstrated a free-flowing effu- sion with no heart chamber dilatation or Doppler abnormalities. Serum hemoglobin was 11 g/L, was 98 mg/L, and serum phosphate was 26 mg/L. Serum creatine kinase was elevated to 4533 IU/L (normal, 25–195) and serum lactic dehydrogenase to 1280 IU/L (normal, 200–400). Radioimmunoassays showed decreases in serum T4 (to 46.97 nmol/L; normal, 64–141) and total T3 (to 0.36 nmol/L; normal, 1.2–3.4). Serum TSH was elevated to 25.5 μUI/mL (N < 3.5). The electromyogram demonstrated a myogenic pat- tern at the girdles and evidence of distal axonal neur- opathy. This combination was suggestive of hypothyroidism. A muscle biopsy showed perivascular atrophy without inflammation; substantial neuron loss was seen, as well as degeneration of the small and medium-sized axons and evidence upon teasing of marked fibrosis of the normal fibers. The histologic diagnosis was moderate nonspecific neuromyopathy. Joint Bone Spine 2001 ; 68 : 84-6 © 2001 Éditions scientifiques et médicales Elsevier SAS. All rights reserved