Neurol Sci (2014) 35:479–481 DOI 10.1007/s10072-013-1564-9
LETTER TO THE EDITOR
A case report of extended neurogenic muscular atrophy related to SAPHO syndrome Fang Ye • Jianhua Feng • Jing Liu
Received: 2 July 2013 / Accepted: 14 October 2013 / Published online: 25 October 2013 Ó Springer-Verlag Italia 2013
Dear Sir We reported about a Mongolian man with synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome accompanied by an undescribed neurogenic muscular atrophy.
Case report A 22-year-old Mongolian man presented 3 years after the onset of intermittent exercise-induced pain in the left thigh. It slowly progressed to continuous and episodically exacerbated pain which aggravated during the night. The patient had to take NSAIDs to alleviate the pain. He noted both of his legs were much thinner than before without muscle twitching. The patient had no preceding illness and trauma except for chronic infection of hepatitis B. The family history was negative. He was thin (height 175 cm, weight 48 kg) and had acnes on his face and back. Neurological examination showed extended muscular atrophy including bilateral supraspinatus, infraspinatus, deltoid, biceps brachii, triceps brachii, gluteus maximus, quadriceps femoris and gastrocnemius, more prominent on the
F. Ye J. Liu (&) Department of Neurology, Sichuan Provincial People’s Hospital, Sichuan Provincial Academy of Medical Sciences, Chengdu 610072, China e-mail: [email protected] J. Feng Department of Neuro-electrophysiology, Sichuan Provincial People’s Hospital, Sichuan Provincial Academy of Medical Sciences, Chengdu 610072, China
left side than the right. There was mild decrease in strength at the hips and knees of the left leg. Strength in other areas was preserved. No fasciculations were observed. Reflexes were symmetrically decreased and bilateral Babinski’s signs were negative. The sensory and cerebellar examinations were unremarkable. Laboratory analysis revealed an elevated erythrocyte sedimentation rate (ESR) (44 mm/h) and normal creatine kinase. The patient was negative for human immunodeficiency virus and syphilis. The test for thyroid function and antithyroid antibodies was negative. Chest X-ray and abdominal ultrasound were also negative. Electrodiagnostic studies (initial; see Table 1) revealed findings consistent with extended neurogenic impairment. MRI scans of the proximal left femur revealed a femoral mass measuring 11.1 9 3.2 9 3.7 cm (Fig. 1a, MRI of the left upper femur). The radiologist described the mass as ‘‘apt to be malignant’’. The patient also took a whole body bone scan (Fig. 1b). Besides the left upper femur, increased tracer uptake in the lower part of left femur was also identified. The patient then underwent an open biopsy of the left upper femur. During the procedure, obvious proliferation with local sclerosis was found in the bone cortex. There were gravel-like tissues and numbers of small sequestra in the marrow cavity. The pathologic examination revealed fibroblastic sclerosing proliferation filtrated by chronic inflammatory cells, mainly lymphocytes and plasma cells without malignant cells, consistent with chronic sclerosing osteomyelitis (CSO). Cultures of the tissue were negative. Muscle biopsy was not performed according to the patient’s willingness. The patient was treated with antibiotics for 2 weeks. He was totally pain-free since the surgery and put on more than 5-kg weight 5 months later. The acnes still existed (Fig. 1c). Physical examinations showed normally present symmetrical deep tendon reflexes and muscle strength in all limbs.
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Neurol Sci (2014) 35:479–481
Table 1 Electrodiagnostic studies Nerves
Initial
Repeat
Lat (ms)
Amp (mV)
CV (m/s)
Lat (ms)
Left tibialis
5.2
21.8
47.6
N/A
Left peroneus (motor)
4.3
4.4
49.3
Left peroneus (sensory)
3.0
2.5 (lV)
46.7
Muscles
Amp (lV)
Dur (ms)
Poly (%)
Amp (lV)
Amp (mV)
CV (m/s)
Dur (ms)
Poly (%)
Left deltoideus post
371
13.3
50
355
12.7
40
Right deltoideus post
588
15.9
75
N/A
N/A
N/A
Left sternocleidomast
525
11.3
75
N/A
N/A
N/A
Right sternocleidomast
482
13.1
60
292
9.5
33
Right tibialis anterior
569
14.2
77
339
10.2
29
Left abd pollicis brev
606
13.4
93
570
10.0
41
Left triceps
N/A
N/A
N/A
251
10.7
24
Normal values: Lat: peroneal B6.1 ms; tibial B6.4 ms. Amplitudes: tibial C3 mV; peroneal C3 mV. MCV: peroneal C40 m/s; tibial C40 m/s. SCV (amplitudes): peroneus C45 m/s (C5 lV). MUAP Dur: abd pollicis brev B9.4 ms, triceps B11.6 ms, tibialis anterior B12.3 ms, sternocleidomast B10.0 ms, deltoideus B10.5 ms. All data was obtained on the same equipment of DantecTM KEYPOINTÒ G4 Work station by sophisticated neurological doctors. Each muscle was tested at more than 5 sites and 30 waves for each site, then the average were calculated. No abnormality was observed in resting state of muscles mentioned above and prolonged duration was defined as 20 % more than normal values. Abnormal values in bold
Fig. 1 a Coronal T2-weighted MRI of the left upper femur showed the femoral mass abut and possibly invade the adjoining muscles and vessels with moderate edema in the marrow and surrounding soft
tissues. There was a mild bilateral hip joint effusion. b Whole body bone scan showed increased tracer uptake in two sites. c Acnes on the back of the patient on the return visit
There was no obvious muscular atrophy observed. He took a repeat of EMG examinations (Table 1) which was much better than the initial one only showing mild neurogenic impairment in the left deltoideus. He also took a test of serum ANA, which was 1:20 positive (normal value \1:20), dsDNA and ENA, with the latter two being negative.
Discussion
123
SAPHO is the acronym for synovitis, acne, pustulosis, hyperostosis, and osteitis, which was first coined in 1987 [1]. The diagnosis of SAPHO syndrome could be difficult due to its nonspecific and broad-spectrum manifestations
Neurol Sci (2014) 35:479–481
and low awareness by doctors. According to the diagnostic criteria proposed by Kahn and Khan [2], there was sufficient evidence to make the diagnosis of SAPHO syndrome in our case as he presented with sterile osteitis at two sites and acnes, with other causes (neoplasm and infection mainly) excluded. The extended muscular atrophy of our case resembled spinal muscular atrophy (subtype of motor neuron diseases, MND) symptomatically and electrodiagnostically. In fact, our patient was first admitted into the neurology department with possible MND because of his prominent muscular atrophy and seemingly typical EMG findings. There was an obvious correlation between SAPHO syndrome and the muscular atrophy, as the latter one gradually emerged after the onset of the former one and both the atrophy and related EMG changes reversed with the clinical remission of SAPHO syndrome. We assume it might result from autoimmune process targeting skin, bone and nervous system (motor neuron specifically), as both SAPHO syndrome [3–6] and MND [7] were believed to have an autoimmune background. The key point is the reverse of muscular atrophy observed in our case which was related to the alleviation of SAPHO syndrome. As we know, the progression of MND is mostly irreversible. Still, there have been several published articles reporting secondary MND in which motor symptoms remitted after treatment of the underlying causes, including malignancy, intoxication and trauma [8]. Spontaneous remission of primary MND is also existing, though extremely rare [8, 9]. Further investigation of this phenomenon may shed light on the pathogenesis of
481
motor neuron diseases, providing new therapeutical strategies. Conflict of interest of interest.
The authors declare that they have no conflict
References 1. Chamot AM, Benhamou CL, Kahn MF, Beraneck L, Kaplan G, Prost A (1987) Acne-pustulosis-hyperostosis-osteitis syndrome. Results of a national survey. 85 cases. Rev Rhum Mal Osteoartic 54:187–196 2. Kahn MF, Khan MA (1994) The SAPHO syndrome. Bailliere. Clin Rheumatol 8(2):333–362 3. Matzarogloul CH, Velissaris D, Karageorgos A, Marangos M, Panagiotopoulos E, Karanikolas M (2009) SAPHO syndrome diagnosis and treatment: report of five cases and review of the literature. Open Orthop J 3:100–106 4. Nguyen MT, Borchers A, Selmi C, Naguwa SM, Cheema G, Gershwin ME (2012) The SAPHO syndrome. Semin Arthritis Rheum 42:254–265 5. Schiling F(2004)SAPHO syndrome. Orphanet encyclopedia. http:// www.orpha.net/data/patho/GB/uk-SAPHO.pdf. Accessed 14 June 2013 6. Kundu BK, Naik AK, Bhargava S, Srivastava D (2013) Diagnosing the SAPHO syndrome: a report of three cases and review of literature. Clin Rheumatol. doi:10.1007/s10067-013-2251-1 7. Pagani MR, Gonzalez LE, Uchitel OD (2011) Autoimmunity in amyotrophic lateral sclerosis past and present. Neurol Res Int. doi:10.1155/2011/497080 8. Thiago CV, da Denise SF, Luiz SM, de LeonardoDornas O, Antonio LT (2013) Reversible lower motor neuron disease: a new case of a forgotten disease. J Neurol Res 3(1):40–41 9. Tsai CP, Ho HH, Yen DJ, Wang V, Lin KP, Liao KK, Wu ZA (1993) Reversible motor neuron disease. Eur Neurol 33(5):387–389
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LETTER TO THE EDITOR
A case report of extended neurogenic muscular atrophy related to SAPHO syndrome Fang Ye • Jianhua Feng • Jing Liu
Received: 2 July 2013 / Accepted: 14 October 2013 / Published online: 25 October 2013 Ó Springer-Verlag Italia 2013
Dear Sir We reported about a Mongolian man with synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome accompanied by an undescribed neurogenic muscular atrophy.
Case report A 22-year-old Mongolian man presented 3 years after the onset of intermittent exercise-induced pain in the left thigh. It slowly progressed to continuous and episodically exacerbated pain which aggravated during the night. The patient had to take NSAIDs to alleviate the pain. He noted both of his legs were much thinner than before without muscle twitching. The patient had no preceding illness and trauma except for chronic infection of hepatitis B. The family history was negative. He was thin (height 175 cm, weight 48 kg) and had acnes on his face and back. Neurological examination showed extended muscular atrophy including bilateral supraspinatus, infraspinatus, deltoid, biceps brachii, triceps brachii, gluteus maximus, quadriceps femoris and gastrocnemius, more prominent on the
F. Ye J. Liu (&) Department of Neurology, Sichuan Provincial People’s Hospital, Sichuan Provincial Academy of Medical Sciences, Chengdu 610072, China e-mail: [email protected] J. Feng Department of Neuro-electrophysiology, Sichuan Provincial People’s Hospital, Sichuan Provincial Academy of Medical Sciences, Chengdu 610072, China
left side than the right. There was mild decrease in strength at the hips and knees of the left leg. Strength in other areas was preserved. No fasciculations were observed. Reflexes were symmetrically decreased and bilateral Babinski’s signs were negative. The sensory and cerebellar examinations were unremarkable. Laboratory analysis revealed an elevated erythrocyte sedimentation rate (ESR) (44 mm/h) and normal creatine kinase. The patient was negative for human immunodeficiency virus and syphilis. The test for thyroid function and antithyroid antibodies was negative. Chest X-ray and abdominal ultrasound were also negative. Electrodiagnostic studies (initial; see Table 1) revealed findings consistent with extended neurogenic impairment. MRI scans of the proximal left femur revealed a femoral mass measuring 11.1 9 3.2 9 3.7 cm (Fig. 1a, MRI of the left upper femur). The radiologist described the mass as ‘‘apt to be malignant’’. The patient also took a whole body bone scan (Fig. 1b). Besides the left upper femur, increased tracer uptake in the lower part of left femur was also identified. The patient then underwent an open biopsy of the left upper femur. During the procedure, obvious proliferation with local sclerosis was found in the bone cortex. There were gravel-like tissues and numbers of small sequestra in the marrow cavity. The pathologic examination revealed fibroblastic sclerosing proliferation filtrated by chronic inflammatory cells, mainly lymphocytes and plasma cells without malignant cells, consistent with chronic sclerosing osteomyelitis (CSO). Cultures of the tissue were negative. Muscle biopsy was not performed according to the patient’s willingness. The patient was treated with antibiotics for 2 weeks. He was totally pain-free since the surgery and put on more than 5-kg weight 5 months later. The acnes still existed (Fig. 1c). Physical examinations showed normally present symmetrical deep tendon reflexes and muscle strength in all limbs.
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Neurol Sci (2014) 35:479–481
Table 1 Electrodiagnostic studies Nerves
Initial
Repeat
Lat (ms)
Amp (mV)
CV (m/s)
Lat (ms)
Left tibialis
5.2
21.8
47.6
N/A
Left peroneus (motor)
4.3
4.4
49.3
Left peroneus (sensory)
3.0
2.5 (lV)
46.7
Muscles
Amp (lV)
Dur (ms)
Poly (%)
Amp (lV)
Amp (mV)
CV (m/s)
Dur (ms)
Poly (%)
Left deltoideus post
371
13.3
50
355
12.7
40
Right deltoideus post
588
15.9
75
N/A
N/A
N/A
Left sternocleidomast
525
11.3
75
N/A
N/A
N/A
Right sternocleidomast
482
13.1
60
292
9.5
33
Right tibialis anterior
569
14.2
77
339
10.2
29
Left abd pollicis brev
606
13.4
93
570
10.0
41
Left triceps
N/A
N/A
N/A
251
10.7
24
Normal values: Lat: peroneal B6.1 ms; tibial B6.4 ms. Amplitudes: tibial C3 mV; peroneal C3 mV. MCV: peroneal C40 m/s; tibial C40 m/s. SCV (amplitudes): peroneus C45 m/s (C5 lV). MUAP Dur: abd pollicis brev B9.4 ms, triceps B11.6 ms, tibialis anterior B12.3 ms, sternocleidomast B10.0 ms, deltoideus B10.5 ms. All data was obtained on the same equipment of DantecTM KEYPOINTÒ G4 Work station by sophisticated neurological doctors. Each muscle was tested at more than 5 sites and 30 waves for each site, then the average were calculated. No abnormality was observed in resting state of muscles mentioned above and prolonged duration was defined as 20 % more than normal values. Abnormal values in bold
Fig. 1 a Coronal T2-weighted MRI of the left upper femur showed the femoral mass abut and possibly invade the adjoining muscles and vessels with moderate edema in the marrow and surrounding soft
tissues. There was a mild bilateral hip joint effusion. b Whole body bone scan showed increased tracer uptake in two sites. c Acnes on the back of the patient on the return visit
There was no obvious muscular atrophy observed. He took a repeat of EMG examinations (Table 1) which was much better than the initial one only showing mild neurogenic impairment in the left deltoideus. He also took a test of serum ANA, which was 1:20 positive (normal value \1:20), dsDNA and ENA, with the latter two being negative.
Discussion
123
SAPHO is the acronym for synovitis, acne, pustulosis, hyperostosis, and osteitis, which was first coined in 1987 [1]. The diagnosis of SAPHO syndrome could be difficult due to its nonspecific and broad-spectrum manifestations
Neurol Sci (2014) 35:479–481
and low awareness by doctors. According to the diagnostic criteria proposed by Kahn and Khan [2], there was sufficient evidence to make the diagnosis of SAPHO syndrome in our case as he presented with sterile osteitis at two sites and acnes, with other causes (neoplasm and infection mainly) excluded. The extended muscular atrophy of our case resembled spinal muscular atrophy (subtype of motor neuron diseases, MND) symptomatically and electrodiagnostically. In fact, our patient was first admitted into the neurology department with possible MND because of his prominent muscular atrophy and seemingly typical EMG findings. There was an obvious correlation between SAPHO syndrome and the muscular atrophy, as the latter one gradually emerged after the onset of the former one and both the atrophy and related EMG changes reversed with the clinical remission of SAPHO syndrome. We assume it might result from autoimmune process targeting skin, bone and nervous system (motor neuron specifically), as both SAPHO syndrome [3–6] and MND [7] were believed to have an autoimmune background. The key point is the reverse of muscular atrophy observed in our case which was related to the alleviation of SAPHO syndrome. As we know, the progression of MND is mostly irreversible. Still, there have been several published articles reporting secondary MND in which motor symptoms remitted after treatment of the underlying causes, including malignancy, intoxication and trauma [8]. Spontaneous remission of primary MND is also existing, though extremely rare [8, 9]. Further investigation of this phenomenon may shed light on the pathogenesis of
481
motor neuron diseases, providing new therapeutical strategies. Conflict of interest of interest.
The authors declare that they have no conflict
References 1. Chamot AM, Benhamou CL, Kahn MF, Beraneck L, Kaplan G, Prost A (1987) Acne-pustulosis-hyperostosis-osteitis syndrome. Results of a national survey. 85 cases. Rev Rhum Mal Osteoartic 54:187–196 2. Kahn MF, Khan MA (1994) The SAPHO syndrome. Bailliere. Clin Rheumatol 8(2):333–362 3. Matzarogloul CH, Velissaris D, Karageorgos A, Marangos M, Panagiotopoulos E, Karanikolas M (2009) SAPHO syndrome diagnosis and treatment: report of five cases and review of the literature. Open Orthop J 3:100–106 4. Nguyen MT, Borchers A, Selmi C, Naguwa SM, Cheema G, Gershwin ME (2012) The SAPHO syndrome. Semin Arthritis Rheum 42:254–265 5. Schiling F(2004)SAPHO syndrome. Orphanet encyclopedia. http:// www.orpha.net/data/patho/GB/uk-SAPHO.pdf. Accessed 14 June 2013 6. Kundu BK, Naik AK, Bhargava S, Srivastava D (2013) Diagnosing the SAPHO syndrome: a report of three cases and review of literature. Clin Rheumatol. doi:10.1007/s10067-013-2251-1 7. Pagani MR, Gonzalez LE, Uchitel OD (2011) Autoimmunity in amyotrophic lateral sclerosis past and present. Neurol Res Int. doi:10.1155/2011/497080 8. Thiago CV, da Denise SF, Luiz SM, de LeonardoDornas O, Antonio LT (2013) Reversible lower motor neuron disease: a new case of a forgotten disease. J Neurol Res 3(1):40–41 9. Tsai CP, Ho HH, Yen DJ, Wang V, Lin KP, Liao KK, Wu ZA (1993) Reversible motor neuron disease. Eur Neurol 33(5):387–389
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