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Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review.
BMC Neurol. 2015 Jul 24; 15:114.BN

Abstract

BACKGROUND

Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive inherited disease of metabolic dysfunction clinically characterized by fluctuating proximal muscle weakness, excise intolerance, and dramatic riboflavin responsiveness. Dropped head syndrome can occasionally be observed in some severe patients with late-onset MADD; however, bent spine syndrome as an initial symptom had not been reported in patients with late-onset MADD.

CASE PRESENTATION

A 46-year-old man lost the ability to hold his trunk upright, and had difficulty in raising his head, but he had no obvious symptoms of limb weakness. Meanwhile, he developed persistent numbness of limbs and lips around. Myopathological features and combined elevation of multiple acylcarnitines indicated that the axial myopathy might be caused by lipid storage myopathy. Cervical and lumbosacral MRI revealed a lot of abnormal signals diffusing along paravertebral muscles, while the abnormal signals almost disappeared after riboflavin treatment. Nerve conduction study indicated the patient suffering from predominantly sensory neuropathy and mildly motor neuropathy. Muscle pathology also demonstrated no typical neurogenic change, which was consistent with the electrophysiological findings. Causative mutations were found in the ETFDH gene.

CONCLUSION

We report the first case of late-onset MADD with sensory neuropathy initially manifesting as bent spine syndrome and dropped head syndrome.

Authors+Show Affiliations

Department of Neurology, The first affiliated hospital of Nanchang University, Yong Wai Zheng Street 17#, Nanchang, 330006, P.R China. 315989133@qq.com.Department of Neurology, The first affiliated hospital of Nanchang University, Yong Wai Zheng Street 17#, Nanchang, 330006, P.R China. zhumin1@126.com.Department of Neurology, The first affiliated hospital of Nanchang University, Yong Wai Zheng Street 17#, Nanchang, 330006, P.R China. zjj259@163.com.Department of Neurology, The first affiliated hospital of Nanchang University, Yong Wai Zheng Street 17#, Nanchang, 330006, P.R China. 846366855@qq.com.Department of Neurology, The first affiliated hospital of Nanchang University, Yong Wai Zheng Street 17#, Nanchang, 330006, P.R China. lxb0203208@126.com.Department of Neurology, The first affiliated hospital of Nanchang University, Yong Wai Zheng Street 17#, Nanchang, 330006, P.R China. 601944681@qq.com.Department of Neurology, The first affiliated hospital of Nanchang University, Yong Wai Zheng Street 17#, Nanchang, 330006, P.R China. hongdaojun@hotmail.com.

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

26205240

Citation

Peng, Yufen, et al. "Bent Spine Syndrome as an Initial Manifestation of Late-onset Multiple acyl-CoA Dehydrogenase Deficiency: a Case Report and Literature Review." BMC Neurology, vol. 15, 2015, p. 114.
Peng Y, Zhu M, Zheng J, et al. Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review. BMC Neurol. 2015;15:114.
Peng, Y., Zhu, M., Zheng, J., Zhu, Y., Li, X., Wei, C., & Hong, D. (2015). Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review. BMC Neurology, 15, 114. https://doi.org/10.1186/s12883-015-0380-7
Peng Y, et al. Bent Spine Syndrome as an Initial Manifestation of Late-onset Multiple acyl-CoA Dehydrogenase Deficiency: a Case Report and Literature Review. BMC Neurol. 2015 Jul 24;15:114. PubMed PMID: 26205240.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review. AU - Peng,Yufen, AU - Zhu,Min, AU - Zheng,Junjun, AU - Zhu,Yuanzhao, AU - Li,Xiaobing, AU - Wei,Caixia, AU - Hong,Daojun, Y1 - 2015/07/24/ PY - 2015/03/29/received PY - 2015/07/14/accepted PY - 2015/7/25/entrez PY - 2015/7/25/pubmed PY - 2016/4/8/medline SP - 114 EP - 114 JF - BMC neurology JO - BMC Neurol VL - 15 N2 - BACKGROUND: Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive inherited disease of metabolic dysfunction clinically characterized by fluctuating proximal muscle weakness, excise intolerance, and dramatic riboflavin responsiveness. Dropped head syndrome can occasionally be observed in some severe patients with late-onset MADD; however, bent spine syndrome as an initial symptom had not been reported in patients with late-onset MADD. CASE PRESENTATION: A 46-year-old man lost the ability to hold his trunk upright, and had difficulty in raising his head, but he had no obvious symptoms of limb weakness. Meanwhile, he developed persistent numbness of limbs and lips around. Myopathological features and combined elevation of multiple acylcarnitines indicated that the axial myopathy might be caused by lipid storage myopathy. Cervical and lumbosacral MRI revealed a lot of abnormal signals diffusing along paravertebral muscles, while the abnormal signals almost disappeared after riboflavin treatment. Nerve conduction study indicated the patient suffering from predominantly sensory neuropathy and mildly motor neuropathy. Muscle pathology also demonstrated no typical neurogenic change, which was consistent with the electrophysiological findings. Causative mutations were found in the ETFDH gene. CONCLUSION: We report the first case of late-onset MADD with sensory neuropathy initially manifesting as bent spine syndrome and dropped head syndrome. SN - 1471-2377 UR - https://www.unboundmedicine.com/medline/citation/26205240/Bent_spine_syndrome_as_an_initial_manifestation_of_late_onset_multiple_acyl_CoA_dehydrogenase_deficiency:_a_case_report_and_literature_review_ L2 - https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-015-0380-7 DB - PRIME DP - Unbound Medicine ER -