- Email: [email protected]
Scoliosis in Steinert syndrome: a case report
The Spine Journal 5 (2005) 212–216
Scoliosis in Steinert syndrome: a case report George S. Themistocleous, MD, DSc*, George S. Sapkas, MD, DSc, Panayiotis J. Papagelopoulos, MD, DSc, Eugenia V. Stilianessi, MD, Elias Ch. Papadopoulos, MD, Constantinos D. Apostolou, MD First Orthopaedic Department of Athens University Medical School, KAT Hospital, 2 Nikis Str GR-14561 Kifissia, Greece Received 7 July 2003; accepted 2 July 2004
Abstract
BACKGROUND CONTEXT: Steinert syndrome is described as an autosomal dominant condition characterized by progressive muscular wasting, myotonia, musculoskeletal manifestations and rare spinal defects. Little is reported about spinal deformity associated with this syndrome. PURPOSE: We present a patient with Steinert syndrome complicated by scoliosis. In the literature on muscular dystrophy, other than Duchenne, little mention is given to the problem of scoliosis in general and its treatment in particular. STUDY DESIGN: A case report of a patient with Steinert syndrome associated with thoracic scoliosis and hypokyphosis is presented. METHODS: A 17-year-old boy presented with King type II right thoracic scoliosis (T5–T11, Cobb angle of 40⬚) and hypokyphosis ⫺10⬚. He was treated with posterior stabilization and instrumentation at level T3–L2 with a postoperative correction of the scoliotic curve to 20⬚. Histopathologic examination of the muscles confirmed the diagnosis of Steinert myotonic dystrophy. RESULTS: At 30-month follow-up, the patient was clinically pain free and well balanced. Plain radiographs showed solid spine fusion with no loss of deformity correction. CONCLUSIONS: Scoliosis in Steinert syndrome shares the characteristic of an arthrogrypotic neuromuscular curve and demands the extensive soft tissue release for optimal surgical correction. Intraoperative observations included profound tissue bleeding, abnormally tough soft tissues and a difficult recovery from anaesthesia. 쑖 2005 Elsevier Inc. All rights reserved.
Keywords:
Steinert syndrome; Scoliosis; Chromosome 19; Neuropathic diseases
Introduction Spinal deformity is frequent in musculoskeletal syndromes of genetic or developmental causes. In 1909, Steinert et al. [1] described a syndrome of autosomal inheritance characterized by progressive muscular wasting, myotonia, hypogonadism and mental deterioration The syndrome is caused by an error in the gene located in the long arm of chromosome 19 and is transmitted as an autosomal dominant trait with complete penetrance and variation in expression (the genetic mutation involves unstable trinucleotide repeats (CTG)[ [2–5].
FDA device/drug status: not applicable. Nothing of value received from a commercial entity to this research. * Corresponding author. Theotoki 11 - PC, Piraeus 18538, Greece. Tel.: (⫹30) 104517673; fax: (⫹30) 104539826. E-mail address: [email protected] (G.S. Themistocleous) 1529-9430/05/$ – see front matter doi:10.1016/j.spinee.2004.07.035
쑖 2005 Elsevier Inc. All rights reserved.
The syndrome involves both smooth and striated muscles and causes musculoskeletal manifestations such as arthrogryposis of multiple joints, congenital dislocation of hips, foot deformities (talipes equinovarus, club foot), hypoplastic elbow and webbed neck. Spinal defects are rare and include meningocele, myelomeningocele, hemivertebrae and kyphoscoliosis [6–9]. We describe a patient with this rare clinical entity complicated by an unusual complex spinal deformity. To our knowledge, little information is found in the literature about the management and the perioperative considerations in scoliosis caused by Steinert syndrome.
Case report A 17-year-old boy was referred to our institution for his spinal deformity, which was detected in a routine school screening program at the age of 13. Clinical examination
G.S. Themistocleous et al. / The Spine Journal 5 (2005) 212–216
Fig. 1. Posteroanterior preoperative radiograph of the spine demonstrates a right thoracic curve of 40⬚.
213
Fig. 3. Posteroanterior radiograph at follow-up showing the correction of the thoracic curve down to 20⬚.
and plain radiographs revealed a King type II right thoracic scoliosis extending from T5 to T11 with a Cobb angle of 40⬚ and a marked hypokyphosis of ⫺10⬚ (Fig. 1,2). A Risser sign of 3 to 4 was observed. No evidence of vertebral anomaly was seen. The patient had normal pulmonary function and
was neurologically intact. He was also physically active and had normal intelligence. Considering the age of onset and the curve morphology, the initial suspicion of the deformity was of adolescent idiopathic scoliosis. However, the characteristic haggard appearance of the patient, with micrognathia, microstomia and narrow thorax suggested a neuromuscular disease. On survey
Fig. 2. Lateral preoperative radiograph of the spine demonstrates a marked hypokyphosis of ⫺10⬚.
Fig. 4. Lateral radiograph at 18-month follow-up showing a satisfactory restoration of the thoracic kyphosis.
214
G.S. Themistocleous et al. / The Spine Journal 5 (2005) 212–216
Fig. 5. Preoperative clinical appearance of the patient.
of his family, his father had the same clinical manifestation, so further investigation was done [10,11]. However, neurologic and cardiologic examinations, electromyogram, electrocardiogram and blood tests were within normal limits. We decided to proceed to surgical treatment for scoliosis with posterior stabilization and posterior instrumentation at level T3–L2. The notable intraoperative observations included profound tissue bleeding despite hypotensive anesthesia routinely used in scoliosis surgery and abnormally tough soft tissues (discs, muscles and fascia).The paraspinal muscles were stiff and contracted during the operation, and the patient’s recovery from the anesthesia was difficult. A muscle biopsy, taken during the operation, confirmed the diagnosis of Steinert myotonic dystrophy. The histologic examination showed type I fiber atrophy, central nuclei, sarcoplasmic masses and ring fibers [12,13].
Results Postoperatively, the thoracic curve was corrected to 20⬚ on a standing film, with satisfactory sagittal and coronal alignment (Fig. 3,4). The patient was examined clinically and radiologically immediately after treatment and at 10 days and at 6 weeks postoperatively to detect complications and to assess the functional outcome. A thoracolumbar vest was recommended for a period of 6 weeks. At 30-month followup, he was clinically pain free and well balanced. Plain radiographs showed a solid spine fusion and no loss of scoliosis correction. Discussion Myotonic dystrophy is a neuromuscular disorder, also known as Steinert disease, Batten-Curschmann disease and
G.S. Themistocleous et al. / The Spine Journal 5 (2005) 212–216
215
Fig. 6. Postoperative clinical appearance of the patient at 30-month follow-up.
Hoffman disease. It is the most common form of muscular dystrophy that affects adults. It produces stiffness of muscles and an inability to relax muscles at will, as well as the muscle weakness of the other forms of muscular dystrophies (Duchenne and Becker) [8]. It is a common hereditary myopathy, is autosomal dominant and is mostly caused by an expanded CTG repeat in the muscular dystrophy protein-kinase gene on chromosome 19q13.3 (dystrophia myotonica 1) [3–5]. It is characterized by persistent contracture of skeletal muscle after stimulation. This contracture results from an abnormal chloride conductance of the muscle fiber membrane and a reduced ability of sodium channels [14]. In correlation to the number of trinucleotide repeats, four disease types are recognized: congenital, childhood, adult and late-onset. The syndrome is characterized by weakening of the voluntary muscles; weakening of head, neck and face muscles, which can result in the face having a hollow, drooped appearance; difficulty in suckling and swallowing; daytime sleepiness; cataracts and mild diabetes (Fig. 5,6).
Muscular weakness begins gradually and can remain unnoticed for years. Most of the patients have, as a unifying feature, weakness of the trunk. As they grow and their trunk gets weaker, a progressive, collapsing deformity of the spine produces a long, C-type curve. These curves tend to be progressive, with the rate of progression becoming worse during rapid growth. For children confined to a wheelchair, progressive curves can affect the child’s ability to be seated comfortably, thereby affecting quality of life and function. The most frequent causes of death are aspiration pneumonia and cardiac dysrhythmias [15]. The surgical principles in the management of scoliosis in myotonic dystrophy do not differ from those in neuromuscular scoliosis [16]. Spine fusion is necessary at a younger age, and the fused portion of the spine is longer. Fusion to the sacrum is fairly common because many of these children do not have sitting balance or have pelvic obliquity. According to Daher et al. [16], who treated 2 patients with Steinert syndrome, spinal curvature in muscular dystrophies other than Duchenne tends to evoke slowly. Under nonoperative treatment, the curves tended to be controlled until the
216
G.S. Themistocleous et al. / The Spine Journal 5 (2005) 212–216
pubertal growth spurt. Spine fusion appears to be the treatment of choice; thus, it is effective in maintaining correction and preventing curve progression. Myotonic dystrophy presents many problems for the management of general anesthesia because of respiratory or circulatory complications. The combination of increased sensitivity of the central nervous system to anesthetic drugs, cardiac dysrhythmias and aspiration pneumonia can lead to serious complications during anaesthesia, especially when myotonic dystrophy is not diagnosed. Aldridge et al. [17] presented a review of the anaesthetic outcome from 49 operations in 17 patients with myotonic dystrophy. The results reveal a 52% complication rate in previously diagnosed cases and a 35% complication rate in undiagnosed cases. To avoid potential hazards it behoves the anesthetist to remain alert to the possibility of the undiagnosed disease, so anesthetic management must reflect the multisystem nature of the disease. Commonly used anesthetic medications have potentially lethal or serious adverse effects, so the anesthesiologist must be careful not to use drugs that can cause respiratory or circulatory depression and all stimuli that can cause a myotonic crisis, an adverse effect described especially in pregnant women [18–24]. Enhanced awareness of multiple organ system involvement is essential for planning perioperative care, so a preoperative medical council with the participation of the anesthesiologist and a hematologist is mandatory to plan strategies to deal with potential problems before they arise. The surgeon must anticipate excessive intraoperative bleeding so the preparations of 10 to 15 units of packed red blood cells is necessary.
Conclusions In conclusion, scoliosis in myotonic dystrophy results from muscular weakness of localized muscle imbalance. Physical examination usually reveals the typical pattern of the syndrome such as the narrow thorax, the micrognathia, microstomia, wasting and the presence of myotonia. Special laboratory tests, including muscle biopsy, confirm the diagnosis. As a neuromuscular type of scoliosis it is best managed by spinal fusion. Surgeon and anesthesiologist must be aware that there is a serious possibility of myotonic crisis, excessive intraoperative bleeding and hazardous intraoperative and perioperative periods.
References [1] Steinert H. Myopathology concepts. In: Steinert H, ed. Clinical anatomy of myotonic dystrophies. German Magazine of Neurology. 1909;37:58–104.
[2] Bundey S. Clinical evidence for heterogeneity in myotonic dystrophy. J Med Genet 1982;19:341–8. [3] Harper PS. Localizing the gene for myotonic dystrophy on chromosome 19. J Med Genet 1985;22(abstr.):396. [4] Eiberg H, Mohr J, Nielsen LS, Simonsen N. Genetics and linkage relationships of the C3 polymorphism: discovery of C3-Se linkage and assignment of LES-C3-DM-Se-PEPD-Lu synteny to chromosome 19. Clin Genet 1983;24:159–70. [5] Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy-expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992;68:799–808. [6] Harper PS, Harley HG, Reardon W, Shaw DJ. Anticipation in myotonic dystrophy: new light on an old problem. Am J Hum Genet 1992;51: 10–1. [7] Rodriquez JR, Castilo J, Leira R, Pardo J, Lema M, Noya M. Bone anomalies in myotonic dystrophy. Acta Neurol Scand 1991;83:360–3. [8] Caughey JE, Myrianthopoulos NC. Dystrophia myotonica and related disorders. Springfield, IL: Charles C Thomas, 1963. [9] Harper PS. Myotonic dystrophy. 2nd ed. Philadelphia: WB Saunders, 1989. [10] Brooke MH. A clinician’s view of neuromuscular diseases. 2nd ed. Baltimore, MD: Williams & Wilkins, 1986. [11] Swash M, Schwartz MS. Neuromuscular diseases: a practical approach to diagnosis and management. 3rd ed. London: Springer, 1997. [12] Casanova G, Jerusalem F. Myopathology of myotanic dystrophy: a morphometric study. Acta Neuropath 1979;45:213–40. [13] Drachman DB, Fambrough DM. Are muscle fibers denervated in myotonic dystrophy? Arch Neurol 1976;33:485–8. [14] Franke C, Hatt H, Iaizzo PA, et al. Characteristics of sodium channels and chloride conductance in resealed muscle fibre segments from patients with myotonic dystrophy. J Physiol 1990;425:391–405. [15] de Die-Smulders CE, Howeler CJ, Thijs C, et al. Age and causes of death in adult-onset myotonic dystrophy. Brain 1998;121(Pt 8): 1557–63. [16] Daher YH, Lonstein JE, Winter RB, Bradford DS. Spinal deformities in patients with muscular dystrophy other than Duchenne. A review of 11 patients having surgical treatment. Spine 1985;10:614–7. [17] Aldridge LM. Anaesthetic problems in myotonic dystrophy. A case report and review of the Aberdeen experience comprising 48 general anaesthetics in a further 16 patients. Br J Anaesth 1985;57:1119–30. [18] Rosenbaum HK, Miller JD. Malignant hyperthermia and myotonic disorders. Anesthesiol Clin North Am 2002;20:623–64. [19] Cherng YG, Wang YP, Liu CC, Shi JJ, Huang SC. Combined spinal and epidural anesthesia for abdominal hysterectomy in a patient with myotonic dystrophy. Case report. Reg Anesth 1994;19:69–72. [20] Tholke MH, Tolksdorf W, Mitrenga I. Perioperative treatment of a patient with myotonic muscular dystrophy (Curschmann-Steinert disease). Anasthesiol Intensivmed Notfallmed Schmerzther 1991;26: 87–9. [21] Houvenaeghel M, Achilli-Cornesse E, Jullian-Papouin H, MartinMeyssonier A, Manelli JC. [Oral dantrolene in a parturient with myotonic dystrophy and susceptibility to malignant hyperthermia.] Ann Fr Anesth Reanim 1988;7:408–11. [22] Paterson RA, Tousignant M, Skene DS. Caesarean section for twins in a patient with myotonic dystrophy. Can Anaesth Soc J 1985;32: 418–21. [23] Benito-Leo´n J, Aguilar-Gala´n EV. Recurrent myotonic crisis in a pregnant woman with myotonic dystrophy. Eur J Obstet Gynecol Reprod Biol 2001;95:181. [24] Tholke MH, Tolksdorf W, Mitrenga I. [Perioperative treatment of patient with myotonic muscular dystrophy (Curschmann-Steinert disease)]. Anasthesiol Intesivmed Notfalmed Schmerzther 1991;26:87–9.
Scoliosis in Steinert syndrome: a case report George S. Themistocleous, MD, DSc*, George S. Sapkas, MD, DSc, Panayiotis J. Papagelopoulos, MD, DSc, Eugenia V. Stilianessi, MD, Elias Ch. Papadopoulos, MD, Constantinos D. Apostolou, MD First Orthopaedic Department of Athens University Medical School, KAT Hospital, 2 Nikis Str GR-14561 Kifissia, Greece Received 7 July 2003; accepted 2 July 2004
Abstract
BACKGROUND CONTEXT: Steinert syndrome is described as an autosomal dominant condition characterized by progressive muscular wasting, myotonia, musculoskeletal manifestations and rare spinal defects. Little is reported about spinal deformity associated with this syndrome. PURPOSE: We present a patient with Steinert syndrome complicated by scoliosis. In the literature on muscular dystrophy, other than Duchenne, little mention is given to the problem of scoliosis in general and its treatment in particular. STUDY DESIGN: A case report of a patient with Steinert syndrome associated with thoracic scoliosis and hypokyphosis is presented. METHODS: A 17-year-old boy presented with King type II right thoracic scoliosis (T5–T11, Cobb angle of 40⬚) and hypokyphosis ⫺10⬚. He was treated with posterior stabilization and instrumentation at level T3–L2 with a postoperative correction of the scoliotic curve to 20⬚. Histopathologic examination of the muscles confirmed the diagnosis of Steinert myotonic dystrophy. RESULTS: At 30-month follow-up, the patient was clinically pain free and well balanced. Plain radiographs showed solid spine fusion with no loss of deformity correction. CONCLUSIONS: Scoliosis in Steinert syndrome shares the characteristic of an arthrogrypotic neuromuscular curve and demands the extensive soft tissue release for optimal surgical correction. Intraoperative observations included profound tissue bleeding, abnormally tough soft tissues and a difficult recovery from anaesthesia. 쑖 2005 Elsevier Inc. All rights reserved.
Keywords:
Steinert syndrome; Scoliosis; Chromosome 19; Neuropathic diseases
Introduction Spinal deformity is frequent in musculoskeletal syndromes of genetic or developmental causes. In 1909, Steinert et al. [1] described a syndrome of autosomal inheritance characterized by progressive muscular wasting, myotonia, hypogonadism and mental deterioration The syndrome is caused by an error in the gene located in the long arm of chromosome 19 and is transmitted as an autosomal dominant trait with complete penetrance and variation in expression (the genetic mutation involves unstable trinucleotide repeats (CTG)[ [2–5].
FDA device/drug status: not applicable. Nothing of value received from a commercial entity to this research. * Corresponding author. Theotoki 11 - PC, Piraeus 18538, Greece. Tel.: (⫹30) 104517673; fax: (⫹30) 104539826. E-mail address: [email protected] (G.S. Themistocleous) 1529-9430/05/$ – see front matter doi:10.1016/j.spinee.2004.07.035
쑖 2005 Elsevier Inc. All rights reserved.
The syndrome involves both smooth and striated muscles and causes musculoskeletal manifestations such as arthrogryposis of multiple joints, congenital dislocation of hips, foot deformities (talipes equinovarus, club foot), hypoplastic elbow and webbed neck. Spinal defects are rare and include meningocele, myelomeningocele, hemivertebrae and kyphoscoliosis [6–9]. We describe a patient with this rare clinical entity complicated by an unusual complex spinal deformity. To our knowledge, little information is found in the literature about the management and the perioperative considerations in scoliosis caused by Steinert syndrome.
Case report A 17-year-old boy was referred to our institution for his spinal deformity, which was detected in a routine school screening program at the age of 13. Clinical examination
G.S. Themistocleous et al. / The Spine Journal 5 (2005) 212–216
Fig. 1. Posteroanterior preoperative radiograph of the spine demonstrates a right thoracic curve of 40⬚.
213
Fig. 3. Posteroanterior radiograph at follow-up showing the correction of the thoracic curve down to 20⬚.
and plain radiographs revealed a King type II right thoracic scoliosis extending from T5 to T11 with a Cobb angle of 40⬚ and a marked hypokyphosis of ⫺10⬚ (Fig. 1,2). A Risser sign of 3 to 4 was observed. No evidence of vertebral anomaly was seen. The patient had normal pulmonary function and
was neurologically intact. He was also physically active and had normal intelligence. Considering the age of onset and the curve morphology, the initial suspicion of the deformity was of adolescent idiopathic scoliosis. However, the characteristic haggard appearance of the patient, with micrognathia, microstomia and narrow thorax suggested a neuromuscular disease. On survey
Fig. 2. Lateral preoperative radiograph of the spine demonstrates a marked hypokyphosis of ⫺10⬚.
Fig. 4. Lateral radiograph at 18-month follow-up showing a satisfactory restoration of the thoracic kyphosis.
214
G.S. Themistocleous et al. / The Spine Journal 5 (2005) 212–216
Fig. 5. Preoperative clinical appearance of the patient.
of his family, his father had the same clinical manifestation, so further investigation was done [10,11]. However, neurologic and cardiologic examinations, electromyogram, electrocardiogram and blood tests were within normal limits. We decided to proceed to surgical treatment for scoliosis with posterior stabilization and posterior instrumentation at level T3–L2. The notable intraoperative observations included profound tissue bleeding despite hypotensive anesthesia routinely used in scoliosis surgery and abnormally tough soft tissues (discs, muscles and fascia).The paraspinal muscles were stiff and contracted during the operation, and the patient’s recovery from the anesthesia was difficult. A muscle biopsy, taken during the operation, confirmed the diagnosis of Steinert myotonic dystrophy. The histologic examination showed type I fiber atrophy, central nuclei, sarcoplasmic masses and ring fibers [12,13].
Results Postoperatively, the thoracic curve was corrected to 20⬚ on a standing film, with satisfactory sagittal and coronal alignment (Fig. 3,4). The patient was examined clinically and radiologically immediately after treatment and at 10 days and at 6 weeks postoperatively to detect complications and to assess the functional outcome. A thoracolumbar vest was recommended for a period of 6 weeks. At 30-month followup, he was clinically pain free and well balanced. Plain radiographs showed a solid spine fusion and no loss of scoliosis correction. Discussion Myotonic dystrophy is a neuromuscular disorder, also known as Steinert disease, Batten-Curschmann disease and
G.S. Themistocleous et al. / The Spine Journal 5 (2005) 212–216
215
Fig. 6. Postoperative clinical appearance of the patient at 30-month follow-up.
Hoffman disease. It is the most common form of muscular dystrophy that affects adults. It produces stiffness of muscles and an inability to relax muscles at will, as well as the muscle weakness of the other forms of muscular dystrophies (Duchenne and Becker) [8]. It is a common hereditary myopathy, is autosomal dominant and is mostly caused by an expanded CTG repeat in the muscular dystrophy protein-kinase gene on chromosome 19q13.3 (dystrophia myotonica 1) [3–5]. It is characterized by persistent contracture of skeletal muscle after stimulation. This contracture results from an abnormal chloride conductance of the muscle fiber membrane and a reduced ability of sodium channels [14]. In correlation to the number of trinucleotide repeats, four disease types are recognized: congenital, childhood, adult and late-onset. The syndrome is characterized by weakening of the voluntary muscles; weakening of head, neck and face muscles, which can result in the face having a hollow, drooped appearance; difficulty in suckling and swallowing; daytime sleepiness; cataracts and mild diabetes (Fig. 5,6).
Muscular weakness begins gradually and can remain unnoticed for years. Most of the patients have, as a unifying feature, weakness of the trunk. As they grow and their trunk gets weaker, a progressive, collapsing deformity of the spine produces a long, C-type curve. These curves tend to be progressive, with the rate of progression becoming worse during rapid growth. For children confined to a wheelchair, progressive curves can affect the child’s ability to be seated comfortably, thereby affecting quality of life and function. The most frequent causes of death are aspiration pneumonia and cardiac dysrhythmias [15]. The surgical principles in the management of scoliosis in myotonic dystrophy do not differ from those in neuromuscular scoliosis [16]. Spine fusion is necessary at a younger age, and the fused portion of the spine is longer. Fusion to the sacrum is fairly common because many of these children do not have sitting balance or have pelvic obliquity. According to Daher et al. [16], who treated 2 patients with Steinert syndrome, spinal curvature in muscular dystrophies other than Duchenne tends to evoke slowly. Under nonoperative treatment, the curves tended to be controlled until the
216
G.S. Themistocleous et al. / The Spine Journal 5 (2005) 212–216
pubertal growth spurt. Spine fusion appears to be the treatment of choice; thus, it is effective in maintaining correction and preventing curve progression. Myotonic dystrophy presents many problems for the management of general anesthesia because of respiratory or circulatory complications. The combination of increased sensitivity of the central nervous system to anesthetic drugs, cardiac dysrhythmias and aspiration pneumonia can lead to serious complications during anaesthesia, especially when myotonic dystrophy is not diagnosed. Aldridge et al. [17] presented a review of the anaesthetic outcome from 49 operations in 17 patients with myotonic dystrophy. The results reveal a 52% complication rate in previously diagnosed cases and a 35% complication rate in undiagnosed cases. To avoid potential hazards it behoves the anesthetist to remain alert to the possibility of the undiagnosed disease, so anesthetic management must reflect the multisystem nature of the disease. Commonly used anesthetic medications have potentially lethal or serious adverse effects, so the anesthesiologist must be careful not to use drugs that can cause respiratory or circulatory depression and all stimuli that can cause a myotonic crisis, an adverse effect described especially in pregnant women [18–24]. Enhanced awareness of multiple organ system involvement is essential for planning perioperative care, so a preoperative medical council with the participation of the anesthesiologist and a hematologist is mandatory to plan strategies to deal with potential problems before they arise. The surgeon must anticipate excessive intraoperative bleeding so the preparations of 10 to 15 units of packed red blood cells is necessary.
Conclusions In conclusion, scoliosis in myotonic dystrophy results from muscular weakness of localized muscle imbalance. Physical examination usually reveals the typical pattern of the syndrome such as the narrow thorax, the micrognathia, microstomia, wasting and the presence of myotonia. Special laboratory tests, including muscle biopsy, confirm the diagnosis. As a neuromuscular type of scoliosis it is best managed by spinal fusion. Surgeon and anesthesiologist must be aware that there is a serious possibility of myotonic crisis, excessive intraoperative bleeding and hazardous intraoperative and perioperative periods.
References [1] Steinert H. Myopathology concepts. In: Steinert H, ed. Clinical anatomy of myotonic dystrophies. German Magazine of Neurology. 1909;37:58–104.
[2] Bundey S. Clinical evidence for heterogeneity in myotonic dystrophy. J Med Genet 1982;19:341–8. [3] Harper PS. Localizing the gene for myotonic dystrophy on chromosome 19. J Med Genet 1985;22(abstr.):396. [4] Eiberg H, Mohr J, Nielsen LS, Simonsen N. Genetics and linkage relationships of the C3 polymorphism: discovery of C3-Se linkage and assignment of LES-C3-DM-Se-PEPD-Lu synteny to chromosome 19. Clin Genet 1983;24:159–70. [5] Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy-expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992;68:799–808. [6] Harper PS, Harley HG, Reardon W, Shaw DJ. Anticipation in myotonic dystrophy: new light on an old problem. Am J Hum Genet 1992;51: 10–1. [7] Rodriquez JR, Castilo J, Leira R, Pardo J, Lema M, Noya M. Bone anomalies in myotonic dystrophy. Acta Neurol Scand 1991;83:360–3. [8] Caughey JE, Myrianthopoulos NC. Dystrophia myotonica and related disorders. Springfield, IL: Charles C Thomas, 1963. [9] Harper PS. Myotonic dystrophy. 2nd ed. Philadelphia: WB Saunders, 1989. [10] Brooke MH. A clinician’s view of neuromuscular diseases. 2nd ed. Baltimore, MD: Williams & Wilkins, 1986. [11] Swash M, Schwartz MS. Neuromuscular diseases: a practical approach to diagnosis and management. 3rd ed. London: Springer, 1997. [12] Casanova G, Jerusalem F. Myopathology of myotanic dystrophy: a morphometric study. Acta Neuropath 1979;45:213–40. [13] Drachman DB, Fambrough DM. Are muscle fibers denervated in myotonic dystrophy? Arch Neurol 1976;33:485–8. [14] Franke C, Hatt H, Iaizzo PA, et al. Characteristics of sodium channels and chloride conductance in resealed muscle fibre segments from patients with myotonic dystrophy. J Physiol 1990;425:391–405. [15] de Die-Smulders CE, Howeler CJ, Thijs C, et al. Age and causes of death in adult-onset myotonic dystrophy. Brain 1998;121(Pt 8): 1557–63. [16] Daher YH, Lonstein JE, Winter RB, Bradford DS. Spinal deformities in patients with muscular dystrophy other than Duchenne. A review of 11 patients having surgical treatment. Spine 1985;10:614–7. [17] Aldridge LM. Anaesthetic problems in myotonic dystrophy. A case report and review of the Aberdeen experience comprising 48 general anaesthetics in a further 16 patients. Br J Anaesth 1985;57:1119–30. [18] Rosenbaum HK, Miller JD. Malignant hyperthermia and myotonic disorders. Anesthesiol Clin North Am 2002;20:623–64. [19] Cherng YG, Wang YP, Liu CC, Shi JJ, Huang SC. Combined spinal and epidural anesthesia for abdominal hysterectomy in a patient with myotonic dystrophy. Case report. Reg Anesth 1994;19:69–72. [20] Tholke MH, Tolksdorf W, Mitrenga I. Perioperative treatment of a patient with myotonic muscular dystrophy (Curschmann-Steinert disease). Anasthesiol Intensivmed Notfallmed Schmerzther 1991;26: 87–9. [21] Houvenaeghel M, Achilli-Cornesse E, Jullian-Papouin H, MartinMeyssonier A, Manelli JC. [Oral dantrolene in a parturient with myotonic dystrophy and susceptibility to malignant hyperthermia.] Ann Fr Anesth Reanim 1988;7:408–11. [22] Paterson RA, Tousignant M, Skene DS. Caesarean section for twins in a patient with myotonic dystrophy. Can Anaesth Soc J 1985;32: 418–21. [23] Benito-Leo´n J, Aguilar-Gala´n EV. Recurrent myotonic crisis in a pregnant woman with myotonic dystrophy. Eur J Obstet Gynecol Reprod Biol 2001;95:181. [24] Tholke MH, Tolksdorf W, Mitrenga I. [Perioperative treatment of patient with myotonic muscular dystrophy (Curschmann-Steinert disease)]. Anasthesiol Intesivmed Notfalmed Schmerzther 1991;26:87–9.