Kyphoscoliosis associated with congenital neuromuscular disease with uniform type 1 fibers
To report the first case of surgical treatment for severe kyphoscoliosis associated with respiratory disorder in a patient with congenital neuromuscular disease with uniform type 1 fibers (CNMDU1), including management of the possible onset of malignant hyperthermia (MH) in general anesthesia.
Summary of background data
CNMDU1 is rare among congenital neuromuscular diseases, and surgery for spinal deformity in CNMDU1 has not been described. Onset of MH in general anesthesia is a concern in this disease.
A 13-year-old female with motor retardation, suspected myopathy, and severe spinal deformity was followed at another pediatric hospital before referral to Meijo Hospital. Symptoms at the initial consultation were mild general muscular weakness and muscular atrophy. The rib hump was 60° and trunk balance was poor. The tendon reflex showed hyporeflexia, and blood tests were normal. Vital capacity was 0.69 L and forced expiratory volume percentage in 1 s was 75.5%, showing a restrictive and obstructive ventilatory defect. A plain radiograph showed severe kyphoscoliosis with thoracic scoliosis of 130° (T5–L1) and thoracic kyphosis of 110° (T2–T12) with almost no flexibility in bending or traction film.
After preoperative halo traction for 2 months, one-stage anterior and posterior correction and fusion from T2 to L3 was conducted. MH did not occur, but recovery of respiratory function required 8 days by intubation after surgery. Postoperatively, thoracic kyphosis improved to 25° and thoracic scoliosis was 66° (correction rate: 49%). Pathological results of an intraoperative muscle biopsy from the paraspinal muscles confirmed the diagnosis of CNMDU1. At 6 years after surgery, the patient has no problems in daily life and no respiratory difficulty.
Spinal deformity in CNMDU1 has a risk of severe progression, which makes early diagnosis by biopsy important. The surgery may be recommended before severe progression of spinal deformity and respiratory disorder. Perioperative MH is a concern, but can be managed by appropriate procedures.
KeywordsCongenital neuromuscular disease with uniform type 1 fibers Congenital neuromuscular disease Severe kyphoscoliosis Surgical correction Malignant hyperthermia
- 1.Une Y, Haraguchi H (1980) Congenital myopathy with type 2 fiber deficiency and without specific structural abnormalities. No To Hattatsu 12:554–556Google Scholar
- 17.Miyamoto K, Shimizu K, Matsumoto S, Sumida H, Iida H, Hosoe H (2007) Surgical treatment of scoliosis associated with central core disease: minimizing the effects of malignant hyperthermia with provocation tests. J Pediatr Orthop B 16:239–242. doi:10.1097/BPB.0b013e3280107014 PubMedCrossRefGoogle Scholar
- 23.Esteve E, Eltit JM, Bannister RA, Liu K, Pessah IN, Beam KG, Allen PD, Lopez JR (2010) A malignant hyperthermia-inducing mutation in RYR1 (R163C): alterations in Ca2+ entry, release, and retrograde signaling to the DHPR. J Gen Physiol 135:619–628. doi:10.1085/jgp.200910328 PubMedCrossRefGoogle Scholar
- 28.Treves S, Vukcevic M, Jeannet PY, Levano S, Girard T, Urwyler A, Fischer D, Voit T, Jungbluth H, Lillis S, Muntoni F, Quinlivan R, Sarkozy A, Bushby K, Zorzato F (2011) Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease. Hum Mol Genet 20:589–600. doi:10.1093/hmg/ddq506 PubMedCrossRefGoogle Scholar