Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on sleep in brain health

LIVE: Thursday 2nd May 2024, 18:00-19:30 (CEST)

Quality sleep is essential for health. But what happens to our brains when sleep patterns are disturbed? Join our experts to explore the interplay between sleep disruption and neurological diseases, and the questions that you need to be asking your patients to help you prevent the harmful effects of sleep deprivation.
ADVANCED SEARCH
Log in
Top
BMC Neurology
Published in: BMC Neurology 1/2015

Open Access 01-12-2015 | Case report

Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review

Authors: Yufen Peng, Min Zhu, Junjun Zheng, Yuanzhao Zhu, Xiaobing Li, Caixia Wei, Daojun Hong

Published in: BMC Neurology | Issue 1/2015

Login to get access

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.
Literature
1.
Azher SN, Jankovic J. Camptocormia: pathogenesis, classification, and response to therapy. Neurology. 2005;65:355–9.CrossRefPubMed
2.
3.
Ma H, McEvoy KM, Milone M. Sporadic inclusion body myositis presenting with severe camptocormia. J Clin Neurosci. 2013;20:1628–9.CrossRefPubMed
4.
Kuncl RW, Cornblath DR, Griffin JW. Assessment of thoracic paraspinal muscles in the diagnosis of ALS. Muscle Nerve. 1988;11:484–92.CrossRefPubMed
5.
Katz JS, Wolfe GI, Burns DK, Bryan WW, Fleckenstein JL, Barohn RJ. Isolated neck extensor myopathy: a common cause of dropped head syndrome. Neurology. 1996;46:917–21.CrossRefPubMed
6.
Hoffman D, Gutmann L. The dropped head syndrome with chronic inflammatory demyelinating polyneuropathy. Muscle Nerve. 1994;17:808–10.CrossRefPubMed
7.
Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain. 2007;130:2045–54.CrossRefPubMed
8.
Zhu M, Zhu X, Qi X, Weijiang D, Yu Y, Wan H, et al. Riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and literature review in mainland Chinese patients. J Hum Genet. 2014;59:256–61.CrossRefPubMed
9.
Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Muta. 2003;22:12–23.CrossRef
10.
Li WR, Yang X, Zhao DH, Hong D, Yuan Y, Zheng R, et al. Riboflavin responsive lipid storage myopathy with sensory ataxic neuropathy: 3 cases reports. J Apoplexy Nerv Dis. 2012;29:200–3 (in Chinese).
11.
Wen B, Dai T, Li W, Zhao Y, Liu S, Zhang C, et al. Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations. J Neurol Neurosurg Psychiatry. 2010;81:231–6.CrossRefPubMed
12.
Kocaaga Z, Bal S, Turan Y, Gurgan A, Esmeli F. Camptocormia and dropped head syndrome as a clinic picture of myotonic myopathy. Joint Bone Spine. 2008;75:730–3.CrossRefPubMed
13.
Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4:1073–81.CrossRefPubMed
14.
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248–9.CrossRefPubMedPubMedCentral
15.
16.
Xi J, Wen B, Lin J, Zhu W, Luo S, Zhao C, et al. Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2014;37:399–404.CrossRefPubMed
17.
18.
19.
Laroche M, Ricq G, Delisle MB, Campech M, Marque P. Bent spine syndrome: computed tomographic study and isokinetic evaluation. Muscle Nerve. 2002;25:189–93.CrossRefPubMed
20.
Gillardin P, Lemmerling M, Van der Linden C. MRI findings in camptocormia. Acta Neurol Belg. 2014;114:315–7.CrossRefPubMed
21.
22.
Song Y, Selak MA, Watson CT, Coutts C, Scherer PC, Panzer JA, et al. Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD). PLoS One. 2009;4:e8329.CrossRefPubMedPubMedCentral
23.
Kim SH, Scott SA, Bennett MJ, Carson RP, Fessel J, Brown HA, et al. Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency. PLoS Genet. 2013;9:e1003563.CrossRefPubMedPubMedCentral
24.
Olsen RK, Cornelius N, Gregersen N. Genetic and cellular modifiers of oxidative stress: what can we learn from fatty acid oxidation defects? Mol Genet Metab. 2013;110(Suppl):S31–9.CrossRefPubMed
25.
Wang ZQ, Chen XJ, Murong SX, Wang N, Wu ZY. Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G > A. J Mol Med (Berl). 2011;89:569–76.CrossRef
26.
Schiff M, Froissart R, Olsen RK, Acquaviva C. Vianey-SabanC. Electron transfer flavoprotein deficiency: functional and molecular aspects. Mol Genet Metab. 2006;88:153–8.CrossRefPubMed
27.
Henriques BJ, Rodrigues JV, Olsen RK, Bross P, Gomes CM. Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: a molecular rationale for the effects of riboflavin supplementation. J Biol Chem. 2009;284:4222–9.CrossRefPubMed
Metadata
Title
Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review
Authors
Yufen Peng
Min Zhu
Junjun Zheng
Yuanzhao Zhu
Xiaobing Li
Caixia Wei
Daojun Hong
Publication date
01-12-2015
Publisher
BioMed Central
Published in
BMC Neurology / Issue 1/2015
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/s12883-015-0380-7

Other articles of this Issue 1/2015

BMC Neurology 1/2015 Go to the issue

Study protocol

The PANGAEA study design – a prospective, multicenter, non-interventional, long-term study on fingolimod for the treatment of multiple sclerosis in daily practice

Research article

Correlation of Tc-99 m ethyl cysteinate dimer single-photon emission computed tomography and clinical presentations in patients with low cobalamin status

Research article

Immunological and short-term brain volume changes in relapsing forms of multiple sclerosis treated with interferon beta-1a subcutaneously three times weekly: an open-label two-arm trial

Research article

Prospective assessment of subjective sleep benefit in Parkinson’s disease

Research article

Transcriptional response to interferon beta-1a treatment in patients with secondary progressive multiple sclerosis

Research article

Exploring factors related to physical activity in cervical dystonia