340 Journal of Neurological Sciences Turkish] 22:(3)# 50; 340-343


Journal of Neurological Sciences 2005;22(3)

Journal of Neurological Sciences Turkish] 22:(3)# 50; 340-343, 2005 http://www.jns.dergisi.org/text.php3?id=51 Case Report A Case Report of Hoffmann’s Syndrome Fevzi ÖZTEKİN1, Neşe ÖZTEKİN 1, Özge YILMAZ2, Ece ÜNLÜ3 1

SSK Ankara Hospital Department of Neurology SSK Ankara Hospital Department of Neurology 3 SSK Ankara Hospital Department of Physical Therapy and Rehabilitation 2

Abstract Hypothyroid myopathy has been observed accompanying varying degrees of thyroid dysfunction. Hoffman’s Syndrome is a rare form of hypothyroid myopathy characterized with muscle hypertrophy, stiffness and weakness. Here, we present a 48-year-old man diagnosed as Hoffman’s Syndrome documented by enzyme assays, clinical manifestations and electromyography findings. Keywords: Hypothyroid myopathy, Hoffman’s syndrome Hoffmann Sendromu: Olgu Sunumu Özet Hipotiroidizim miyopatisinin değişen derecelerdeki tiroid disfonksiyonuna eşlik ettiği gözlenmiştir. Hipotiroidizim miyopatisinin nadir bir şekli olan Hoffmann Sendromu; kaslarda hipertrofi, sertlik ve zayıflıkla karakterizedir. Aşağıda kliniğimizde enzim sonuçları, muayene ve elektromiyografi bulguları ile Hoffmann Sendromu tanısı konulan hasta sunulmuştur. Anahtar Kelimeler: Hipotiroidizim Miyopatisi, Hoffmann Sendromu

Introduction Hypothyroidism is a relatively common endocrine disorder with a characteristic clinical picture, which may be associated with a variety of clinical features of myopathy, mononeuropathy and sensorimotor axonal polyneuropathy 9,3,4,10. The clinical evidence of hypothyroid myopathy has been reported in 20-88% of patients 9,2,3,8,12. The most commonly observed symptoms of myopathy due to hypothyroidism are proximal weakness, cramps, painful muscles, myoedema on percussion, delay in deep tendon reflexes and development of muscle hypertrophy


. Severity of myopathy generally correlates with the duration and the degree of thyroid hormone deficiency 2,12. Serum CK (creatine kinase) elevation is usually observed even in the absence of overt muscle weakness 2,10. Although muscular symptoms may occur in many patients with hypothyroidism, muscular hypertrophy with muscle stiffness is reported in less than 10% of the patients 3. The adult and childhood forms characterized with increased muscle volume, slow movements and stiffness are known as Hoffmann’s syndrome and Debre Kocher Semelaigne respectively 3,11.


Journal of Neurological Sciences 2005;22(3)

Electromyography findings may show myopathic motor unit potentials (MUAPs) with reduced duration and amplitude. Spontaneous muscle fiber activity may be present 9,2,4,5,12. The nerve conduction studies (NCS) may show entrapment neuropathies and axonal sensorimotor polyneuropathy. Thyroid hormone replacement therapy reveals complete recovery of muscular symptoms 9,2,3,5,6,10,11. Here we present a case with Hoffmann’s syndrome with characteristic muscle hypertrophy, documented enzyme assays and electromyography findings.

Case Presentation A 48-year-old man presented with complaints of proximal weakness, cramps, stiffness of the muscles, sleepiness and fatigue on mild exercise. The patient also noted a hoarse voice, swelling of his face and tongue, and edema of his ankles. He had no history of diabetes mellitus, prior thyroid disease, and autoimmune or neuromuscular disorders. During the physical examination, the dryness of the skin, ptosis, pretibial edema were noticed. His attention and recent memory were mildly impaired and his voice was coarse. On neurological examination, the cranial nerves were intact. The manual muscle testing of both upper and lower extremities were normal. The deep tendon reflexes were normoactive bilaterally. The light touch, pinprick and vibration tests were also normal as well. The hypertrophy of the muscles of trapezius, deltoid, biceps, gastrochnemius and the paravertebral muscles were noticed bilaterally. The laboratory investigation was remarkable for a CK of 2760 units/L (Normal Electromyographic (EMG) evaluation showed mild spontaneous activity, polyphasic MUAPs with small amplitude

and short duration in proximal muscles. Potentials due to cramp were observed as well. The NCS of the motor and sensory nerves of both upper and lower extremities were in normal limits with slightly prolonged F wave latencies in common peroneal nerves bilaterally. The patient was treated with appropriate thyroid hormone replacement therapy. 3 months after the treatment, the clinical and laboratory improvement of the patient was apparent. There was no more complaints of fatigue, cramps, stiffness of the muscles and edema. The enlargement of the muscles returned nearly to normal.

Disscussion Myopathy is a known complication of hypothyroidism with an incidence of musculoskeletal symptoms varying from 30-80% in different series 5,6. Hoffmann’s Syndrome was first described in 1897 in an adult who developed muscle stiffness and difficulty in relaxation of muscles after thyroidectomy 5,11. The patients typically complain of cramps and pain in muscles of shoulder and pelvic girdles. The most common findings are enlarged muscles, slow movements; delayed deep tendon reflexes, cramps, myoedema on percussion of muscles and proximal weakness 5,8,10,11. Our patient was complaining of difficulty in walking, painful cramps, fatigue, sleepiness and swelling of his face for 4 months. The muscular hypertrophy was observed in the muscles of trapezeus, deltoid, gastrocnemius and the axial muscles bilaterally. Periorbital edema was noticed. The deep tendon reflexes were normal and no muscle weakness was found by manual muscle testing. The elevation of serum creatine kinase (CK), lactate dehydrogenase (LDH), aldolase was reported in 80% of the patients with hypothyroidism even with the absence of muscle involvement 4,5,6,10.


Journal of Neurological Sciences 2005;22(3)

Elevation of CK levels was detected in our patient as well. With the thyroid hormone replacement therapy the serum levels of CK decreased in parallel to the clinical improvement in 3 months.

return to normal with hormone replacement therapy. Not only the symptoms but also the serum levels of enzymes are expected to return normal. References

Scott et al [10], in a recent report discussed a patient with hypothyroidism and strikingly high levels of CK. Their patient was complaining of proximal muscle weakness, with well-developed musculature and no sign of atrophy and he responded well to the thyroid hormone replacement. EMG findings in hypothyroid myopathy show fibrillations, positive sharp waves and complex repetitive discharges (CRD) as spontaneous activity. The MUAPs are generally polyphasic with reduced amplitude and duration. Early recruitment may also be observed 9,2,4,5,12. The EMG of our patient showed mild spontaneous activity with slightly increased polyphasia of MUAPs with small amplitude and reduced duration in proximal muscles. Potentials of cramp could be observed as well. The NCS of the motor and sensory nerves of both upper and lower extremities were in normal limits with slightly prolonged F wave latencies in common peroneal nerves. This finding is compatible with mild neuropathy, which can also be observed in patients with hypothyroidism 9,3,7,11,12 . Before treatment, the levels of free T4 of our patient was low and the TSH level was very high. With the appropriate thyroid hormone replacement therapy, not only the serum levels of enzymes but also the enlargement of the muscles, myoedema and the symptoms of fatigue and the cramps returned to normal in 3 months. Although hypothyroidism causes a wide variety of neuromuscular symptoms, Hoffmann’s syndrome is a specific, rare form of hypothyroid myopathy, which causes hypertrophy of muscles. It is important to emphasize that the symptoms

1) Bowman CA, Jeffcoate M, Pattrick M A case report of bilateral adhesive capsulitis, oligoarthritis and proximal myopathy as presentation of hypothyroidism B J Rheumatol (1988) 27: 62-64 2) Evans R, Itaru W Central changes in hypothyroid myopathy: a case report. Muscle and Nerve (1990) 13:952-956 3) Klein I, Levey G Unusual manifestations of hypothyroidism. Arch Intern Med (1984)144:123-128 4) Krupsky M, Flatau E, Yarom R Musculoskeletal symptoms as a presenting sign of long standing hypothroidism. Isr J Med Sci (1987) 23:1110-1113 5) Kung AWC, Ma JTC, Yu YL Myopathy in acute hypothyroidism. Postgraduate Medical Journal (1987) 63; 661-663 6) Lochmüller H, Reimers CD, Fischer P Exercise induced myalgia in hypothyroidism. Clin İnvest (1993) 71:999-1001 7) Neek G, Riedel W, Schmidt KL Neuropthy, Myopathy and destructive Arthropathy in Primary Hypothyroidism. J Rheumatol (1990) 17: 1697-1700 8) Ono S, Inouye K, and Mannen T Myopathology of hypothyroid myopathy. J Neurological Sciences (1987) 77:237-248 9) Ruurd FD, Bosch J, Laman DM Neuromuscular findings in thyroid dysfunction: a prospective clinical and electrodiagnostic study. J Neurol Neurosurg Psychiatry (2000) 68:750-755 10) Scott KR, Simmons Z, Boyer P. Hypothyroid myopathy with a strikingly elevated serum creatine kinase levels. Muscle and Nerve (2002) 26:141-14 4. 11) Sidibe EH, Diop AN, Thiama A et al. A Hoffmann’s Syndrome in hypothyroid myopathy. Report of a case in an African. Joint Bone Spine (2001) 68:84-86


Journal of Neurological Sciences 2005;22(3)

12) Torres CF, Moxley RT Hypothyroid neuropathy and myopathy: clinical and electrodiagnostic longitidunal findings J Neurol (1990) 237:271-274 Correspondence Özge YILMAZ Prof. Dr. Ahmet Taner Kışlalı Mahallesi Güneş sitesi 676. sok. 66. ada 3/7 06530 Çayyolu ANKARA/TURKEY e-mail: [email protected] Recived by: 06.11.2004 Revised by: 31.12.2004 & 17.01.2005 Accepted : 04.09.2005 The Online Journal of Neurological Sciences (Turkish) 1984-2005 This e-journal is run by Ege University Faculty of Medicine, Dept. of Neurological Surgery, Bornova, Izmir-35100TR as part of the Ege Neurological Surgery World Wide Web service. Comments and feedback: E-mail: [email protected] URL: http://www.jns.dergisi.org Journal of Neurological Sciences (Turkish) ISSNe 1302-1664



340 Journal of Neurological Sciences Turkish] 22:(3)# 50; 340-343

Journal of Neurological Sciences 2005;22(3) Journal of Neurological Sciences Turkish] 22:(3)# 50; 340-343, 2005 http://www.jns.dergisi.org/text.php3?...

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