230
revue neurologique 170 (2014) 228–234
was performed which evidenced an ovarian tumor with liver metastasis, and the patient died a few months later. Our patient fulfilled clinico-pathological criteria for dermatomyositis [1]. Absence of inflammatory cells could be related to corticotherapy which had been introduced before muscle biopsy. Age, debilitating skin disease and cardiomyopathy suggested paraneoplastic dermatomyositis and an ovarian cancer was discovered, the most common underlying malignancy associated with dermatomyositis in women. However, glycogen accumulation and histochemical absence of myophosphorylase activity in muscle justified to consider an associated type V glycogenosis, inasmuch as Mc Ardle’s disease can mimic a refractory dermatomyositis. This was emphasized in a previous report concerning a 25-year-old woman who complained of recurrent muscle weakness and was diagnosed with a dermatomyositis on the presence of bilateral skin lesions on both arms. A first muscle biopsy showed intense inflammatory infiltrates, but a second biopsy showed a myophosphorylase deficiency, characteristic of Mc Ardle’s disease confirmed by R49X and W79R mutations in the PYGM gene [2]. On the other hand, and similarly to our observation, a case of juvenile dermatomyositis confirmed by muscle biopsy revealed an atypical perifascicular glycogen accumulation [3]. The mechanism for glycogen overload in such inflammatory conditions remains to be determined, but from exercise testing and muscle biopsy in a woman with dermatomyositis, it was demonstrated that an inflammatory mechanism interfered with myophosphorylase activity and muscle aerobic function, with a normalization of the responses of serum lactate and pyruvate after corticosteroid therapy [4]. Such interference possibly occurred in our patient, and glycogen accumulation confounded diagnosis.
Disclosure of interest The authors declare that they have no conflicts of interest concerning this article.
references
[1] Dubowitz V, Sewry CA. Muscle biopsy. A practical approach. Third edition, London: Saunders Elsevier; 2007. [2] Gomez-Cerezo JF, Pagan Munoz B, Gutierrez M, Alfageme M, Morales C, Barbado FJ, McArdle’s disease presented as refractory dermatomyositis, Eur J. Intern Med 2008;19:e20–2. [3] Sampson JB, Chin SS, Clayton FC, Pestronk A, Swoboda KJ, Flanigan KM. An unusual pathologic feature associated with dermatomyositis. Neuromuscul Disord 2006;16:391–3. [4] Kunishige M, Mitsui T, Endo I, Matsumoto T. Dermatomyositis associated with impairment in both muscle aerobic and anaerobic function. Clin Neuropathol 2005;24:32–5.
A. Lagueny M.L. Martin-Negrier A. Bredin Service de pathologie, universite´ Bordeaux, hoˆpital Pellegrin, place Ame´lie-Raba-Le´on, 33076 Bordeaux cedex, France
J.L. Berge-Lefranc Hoˆpital de la Conception, 147, boulevard Baille, 13385 Marseille cedex 5, France M. Piraud Hospices civils de Lyon, 59, boulevard Pinel, 69677 Bron cedex, France A. Vital* Service de pathologie, universite´ Bordeaux, hoˆpital Pellegrin, place Ame´lie-Raba-Le´on, 33076 Bordeaux cedex, France *Corresponding author. E-mail address: [email protected] (M.L. Martin-Negrier) Received 16 July Received in revised form 12 September Accepted 13 September Available online 6 March
2013 2013 2013 2014
0035-3787/$ – see front matter # 2014 Elsevier Masson SAS. All rights reserved. http://dx.doi.org/10.1016/j.neurol.2013.09.009
Intramedullary metastasis of a cutaneous squamous cell carcinoma Me´tastase intrame´dullaire d’un carcinome cutane´ e´pidermoı¨de
A 69-year-old patient with nasal cutaneous squamous cell carcinoma (CSCC) presented with progressive right leg monoplegia. Clinical examination revealed Brown-Se´quard syndrome with a loss of motor function, proprioception and fine touch in her right leg and a loss of pain and temperature sensation in her left leg and a C3 sensory level. Spinal cord MRI showed an intramedullary lesion from the D1 to D3 level with gadolinium enhancement and a spinal cord edema (Fig. 1). Pathologic examination after stereotaxic biopsy confirmed CSCC metastasis (Fig. 2). The patient received corticosteroids (1 mg per kg per day), which moderately improved the neurological symptoms, and radiation therapy was proposed. CSCC metastases are rare, and high-risk CSCC can spread along nerves, fascial or bony planes and via lymphatics. Distant metastasis can affect the lungs, liver, bones, other cutaneous sites and, in extremely rare cases, the central nervous system [1,2]. Intramedullary metastasis of CSCC has never been reported.
revue neurologique 170 (2014) 228–234
231
Fig. 1 – Spinal cord MRI sagittal T2 (A), sagittal T1 with gadolinium (B), transverse T2 (C), transverse T1 with gadolinium (D) sequences revealing an intramedullary lesion from the D1 to D3 level with a spinal cord edema.
Fig. 2 – Poorly differentiated cell carcinoma with Hemalum Eosine Safran coloration (A) with positive p63 (B) and CK5/6 (C) immunostaining confirmed CSCC metastasis.
Disclosure of interest The authors declare that they have no conflicts of interest concerning this article.
references
[1] LeBoeuf NR, Schmults CD. Update on the management of high-risk squamous cell carcinoma. Semin Cutan Med Surg 2011;30(1):26–34. [2] Mut M, Schiff D, Shaffrey ME. Metastasis to nervous system: spinal epidural and intramedullary metastases. J Neurooncol 2005;75:43–56.
G. Lamottea,*,1 A. Caillotb,2 C. Di Palmac,2 E. Lechapt-Zalcmand,2 H. Benateaub,2 J. Cogeza,2 a Department of Neurology, University Hospital of Caen Basse Normandie Caen, avenue Cote-de-Nacre, 14033 Caen, France b Department of Oral and Maxillofacial Surgery, University Hospital of Caen Basse Normandie Caen, avenue Cote-de-Nacre, 14033 Caen, France c Department of Neurosurgery, University Hospital of Caen Basse Normandie Caen, avenue Cote-de-Nacre, 14033 Caen, France d Department of Pathology, University Hospital of Caen Basse Normandie Caen, avenue Cote-de-Nacre, 14033 Caen, France
232
revue neurologique 170 (2014) 228–234
*Corresponding author. E-mail address: [email protected] (G. Lamotte) 1
LG: acquisition of data and interpretation, writing and preparation of the manuscript, review and critique of the manuscript. 2
CA, DPC, LZE, CJ, BH: acquisition of data and interpretation, review and critique of the manuscript, and responsibility for overall clinical care. Received 17 July Received in revised form 21 July Accepted 22 July Available online 18 March
2013 2013 2013 2014
0035-3787/$ – see front matter # 2014 Elsevier Masson SAS. All rights reserved. http://dx.doi.org/10.1016/j.neurol.2013.07.034
Acute reversible MarchiafavaBignami disease with hypernatremia: A ‘‘callosal myelinolysis’’? Forme aigue¨ re´versible de maladie de Marchiafava-Bignami avec hypernatre´mie : une « mye´linolyse calleuse » ?
Marchiafava-Bignami Disease (MBD) is characterized by a symmetric demyelination of the corpus callosum. This very rare disease is mostly observed in severe alcoholic patients. We report on an alcoholic patient who developed an acute MBD in association with hypernatremia. This case raises the question of a possible link between MBD and the osmotic demyelination syndrome (ODS). ODS describes central nervous system damage caused by multiple electrolytes, metabolic, and toxic disorders, including central pontine and extrapontine myelinolysis. A left-handed 48-year-old woman was admitted in the emergency room for acute left cervical dystonia and stupor. She had a daily consumption of 2 liters of wine for many years. She was known with a chronic axonal polyneuropathy, a bilateral optic neuropathy, and a liver cirrhosis. On admission, the Glasgow Coma scale was 9 (M4V1E4). She was lethargic, apyretic, and had a generalized tendon hyperreflexia with bilateral extension of the cutaneous plantar responses. The serum laboratory data were unremarkable except for a hypernatremia (156 mEq/l) and a mild increase of the liver enzymes. The cerebrospinal fluid examination was normal. The electroencephalogram showed a slowed rhythm of base at 4–5 cps with diffuse excess of slow delta wave activity. The brain magnetic resonance imaging (MRI) revealed a hyperintensity of the entire corpus callosum on diffusion-weighted (DWI) and fluid-attenuated inversion recovery imaging (FLAIR) (Figs. 1a, b, c, and d). Associated hyperintense lesions on FLAIR were also found in the periventricular white matter and in the
right lateral frontal cortex (Figs. 1c, d and e). Sagittal and coronal T1-weighted images were only performed without gadolinium contrast and did not reveal any hypointense signal in the corpus callosum. She received a parenteral hydration and alimentation with supplement of thiamine (900 mg daily) and a 3-day course of high dose of methylprednisolone (1 g daily). One week later, she recovered a normal vigilance and the cervical dystonia had disappeared. The pyramidal symptoms were associated with cerebellar dysarthria, gait ataxia, and 4 limb dysmetria. The cognitive tests revealed a mini-mental score examination (MMSE) at 13 with frontal apathy and desinhibition, spatio-temporal disorientation, ideo-motor apraxia, and massive verbal long-term memory deficits. She was then transferred to a rehabilitation center. After 3 months of evolution, she was well oriented in time and space and able to walk without assistance. A marked improvement of the gait ataxia and dysarthria was also noted. She had mild executive disorders and left hand agraphia. The neuropsychological testing did not reveal neither any abnormalities of the somaesthetic transfer, nor left tactile anomia and unilateral hand apraxia. Dichotic presentations of verbal and visual contents were not performed. The control MRI showed on FLAIR a mild atrophy of the corpus callosum with persistent hypersignal in its ventral part from the genu to the splenium (Fig. 1f), and unchanged lesions in the right cortical frontal cortex and in the periventricular white matter. MBD can be subdivised into 2 main clinico-radiological subtypes: the acute type A and the chronic type B (Table 1, [1]). Our patient developed a type A-MBD, presenting as an acute onset partially reversible dementia with pyramidal and cerebellar signs. This clinical picture was preceded by stupor and acute cervical dystonia, without any striatal or mesencephalic changes on MRI. To our knowledge, such movement disorder has never been reported in MBD. MRI is the most sensitive tool for the diagnosis of MBD [2–4]. In the acute phase, a part or all the corpus callosum appears as a high signal intensity lesion on T2, FLAIR, and DWI imaging, reflecting both oedema and early demyelination. Areas of restricted diffusion correspond to cytotoxic oedema or to a myelin vacuolization and, unlike in stroke, can resolve without apparent damage [3]. Contrast enhancement of the corpus callosum has been rarely reported [5]. Associated lesions can be observed in the periventricular white matter, as well as in the cerebral cortex, particularly in the lateral frontal and temporal lobes, corresponding to the so-called ‘‘Morel’s cortical laminar sclerosis’’, a degeneration of the third and fourth cortical layers [6,7]. MRI changes in the chronic stages are due to a total myelin loss, including callosal atrophy, low signal intensity lesion on T1 and cavitation, predominating in the medial part of the corpus callosum. The etiology of MBD remains unclear. Alcoholism is the greatest risk factor. Nutritional factors have been suspected but no specific nutrient has been identified. Electrolytes disturbances may play an important role, such as in central pontine and extrapontine myelinolysis [2,7]. In a literature review of patients with hypernatremic ODS, callosal lesions were found on MRI in 41.4% and cortical lesions in 10.3% out of the cases [8]. Moreover, both MBD and
revue neurologique 170 (2014) 228–234
was performed which evidenced an ovarian tumor with liver metastasis, and the patient died a few months later. Our patient fulfilled clinico-pathological criteria for dermatomyositis [1]. Absence of inflammatory cells could be related to corticotherapy which had been introduced before muscle biopsy. Age, debilitating skin disease and cardiomyopathy suggested paraneoplastic dermatomyositis and an ovarian cancer was discovered, the most common underlying malignancy associated with dermatomyositis in women. However, glycogen accumulation and histochemical absence of myophosphorylase activity in muscle justified to consider an associated type V glycogenosis, inasmuch as Mc Ardle’s disease can mimic a refractory dermatomyositis. This was emphasized in a previous report concerning a 25-year-old woman who complained of recurrent muscle weakness and was diagnosed with a dermatomyositis on the presence of bilateral skin lesions on both arms. A first muscle biopsy showed intense inflammatory infiltrates, but a second biopsy showed a myophosphorylase deficiency, characteristic of Mc Ardle’s disease confirmed by R49X and W79R mutations in the PYGM gene [2]. On the other hand, and similarly to our observation, a case of juvenile dermatomyositis confirmed by muscle biopsy revealed an atypical perifascicular glycogen accumulation [3]. The mechanism for glycogen overload in such inflammatory conditions remains to be determined, but from exercise testing and muscle biopsy in a woman with dermatomyositis, it was demonstrated that an inflammatory mechanism interfered with myophosphorylase activity and muscle aerobic function, with a normalization of the responses of serum lactate and pyruvate after corticosteroid therapy [4]. Such interference possibly occurred in our patient, and glycogen accumulation confounded diagnosis.
Disclosure of interest The authors declare that they have no conflicts of interest concerning this article.
references
[1] Dubowitz V, Sewry CA. Muscle biopsy. A practical approach. Third edition, London: Saunders Elsevier; 2007. [2] Gomez-Cerezo JF, Pagan Munoz B, Gutierrez M, Alfageme M, Morales C, Barbado FJ, McArdle’s disease presented as refractory dermatomyositis, Eur J. Intern Med 2008;19:e20–2. [3] Sampson JB, Chin SS, Clayton FC, Pestronk A, Swoboda KJ, Flanigan KM. An unusual pathologic feature associated with dermatomyositis. Neuromuscul Disord 2006;16:391–3. [4] Kunishige M, Mitsui T, Endo I, Matsumoto T. Dermatomyositis associated with impairment in both muscle aerobic and anaerobic function. Clin Neuropathol 2005;24:32–5.
A. Lagueny M.L. Martin-Negrier A. Bredin Service de pathologie, universite´ Bordeaux, hoˆpital Pellegrin, place Ame´lie-Raba-Le´on, 33076 Bordeaux cedex, France
J.L. Berge-Lefranc Hoˆpital de la Conception, 147, boulevard Baille, 13385 Marseille cedex 5, France M. Piraud Hospices civils de Lyon, 59, boulevard Pinel, 69677 Bron cedex, France A. Vital* Service de pathologie, universite´ Bordeaux, hoˆpital Pellegrin, place Ame´lie-Raba-Le´on, 33076 Bordeaux cedex, France *Corresponding author. E-mail address: [email protected] (M.L. Martin-Negrier) Received 16 July Received in revised form 12 September Accepted 13 September Available online 6 March
2013 2013 2013 2014
0035-3787/$ – see front matter # 2014 Elsevier Masson SAS. All rights reserved. http://dx.doi.org/10.1016/j.neurol.2013.09.009
Intramedullary metastasis of a cutaneous squamous cell carcinoma Me´tastase intrame´dullaire d’un carcinome cutane´ e´pidermoı¨de
A 69-year-old patient with nasal cutaneous squamous cell carcinoma (CSCC) presented with progressive right leg monoplegia. Clinical examination revealed Brown-Se´quard syndrome with a loss of motor function, proprioception and fine touch in her right leg and a loss of pain and temperature sensation in her left leg and a C3 sensory level. Spinal cord MRI showed an intramedullary lesion from the D1 to D3 level with gadolinium enhancement and a spinal cord edema (Fig. 1). Pathologic examination after stereotaxic biopsy confirmed CSCC metastasis (Fig. 2). The patient received corticosteroids (1 mg per kg per day), which moderately improved the neurological symptoms, and radiation therapy was proposed. CSCC metastases are rare, and high-risk CSCC can spread along nerves, fascial or bony planes and via lymphatics. Distant metastasis can affect the lungs, liver, bones, other cutaneous sites and, in extremely rare cases, the central nervous system [1,2]. Intramedullary metastasis of CSCC has never been reported.
revue neurologique 170 (2014) 228–234
231
Fig. 1 – Spinal cord MRI sagittal T2 (A), sagittal T1 with gadolinium (B), transverse T2 (C), transverse T1 with gadolinium (D) sequences revealing an intramedullary lesion from the D1 to D3 level with a spinal cord edema.
Fig. 2 – Poorly differentiated cell carcinoma with Hemalum Eosine Safran coloration (A) with positive p63 (B) and CK5/6 (C) immunostaining confirmed CSCC metastasis.
Disclosure of interest The authors declare that they have no conflicts of interest concerning this article.
references
[1] LeBoeuf NR, Schmults CD. Update on the management of high-risk squamous cell carcinoma. Semin Cutan Med Surg 2011;30(1):26–34. [2] Mut M, Schiff D, Shaffrey ME. Metastasis to nervous system: spinal epidural and intramedullary metastases. J Neurooncol 2005;75:43–56.
G. Lamottea,*,1 A. Caillotb,2 C. Di Palmac,2 E. Lechapt-Zalcmand,2 H. Benateaub,2 J. Cogeza,2 a Department of Neurology, University Hospital of Caen Basse Normandie Caen, avenue Cote-de-Nacre, 14033 Caen, France b Department of Oral and Maxillofacial Surgery, University Hospital of Caen Basse Normandie Caen, avenue Cote-de-Nacre, 14033 Caen, France c Department of Neurosurgery, University Hospital of Caen Basse Normandie Caen, avenue Cote-de-Nacre, 14033 Caen, France d Department of Pathology, University Hospital of Caen Basse Normandie Caen, avenue Cote-de-Nacre, 14033 Caen, France
232
revue neurologique 170 (2014) 228–234
*Corresponding author. E-mail address: [email protected] (G. Lamotte) 1
LG: acquisition of data and interpretation, writing and preparation of the manuscript, review and critique of the manuscript. 2
CA, DPC, LZE, CJ, BH: acquisition of data and interpretation, review and critique of the manuscript, and responsibility for overall clinical care. Received 17 July Received in revised form 21 July Accepted 22 July Available online 18 March
2013 2013 2013 2014
0035-3787/$ – see front matter # 2014 Elsevier Masson SAS. All rights reserved. http://dx.doi.org/10.1016/j.neurol.2013.07.034
Acute reversible MarchiafavaBignami disease with hypernatremia: A ‘‘callosal myelinolysis’’? Forme aigue¨ re´versible de maladie de Marchiafava-Bignami avec hypernatre´mie : une « mye´linolyse calleuse » ?
Marchiafava-Bignami Disease (MBD) is characterized by a symmetric demyelination of the corpus callosum. This very rare disease is mostly observed in severe alcoholic patients. We report on an alcoholic patient who developed an acute MBD in association with hypernatremia. This case raises the question of a possible link between MBD and the osmotic demyelination syndrome (ODS). ODS describes central nervous system damage caused by multiple electrolytes, metabolic, and toxic disorders, including central pontine and extrapontine myelinolysis. A left-handed 48-year-old woman was admitted in the emergency room for acute left cervical dystonia and stupor. She had a daily consumption of 2 liters of wine for many years. She was known with a chronic axonal polyneuropathy, a bilateral optic neuropathy, and a liver cirrhosis. On admission, the Glasgow Coma scale was 9 (M4V1E4). She was lethargic, apyretic, and had a generalized tendon hyperreflexia with bilateral extension of the cutaneous plantar responses. The serum laboratory data were unremarkable except for a hypernatremia (156 mEq/l) and a mild increase of the liver enzymes. The cerebrospinal fluid examination was normal. The electroencephalogram showed a slowed rhythm of base at 4–5 cps with diffuse excess of slow delta wave activity. The brain magnetic resonance imaging (MRI) revealed a hyperintensity of the entire corpus callosum on diffusion-weighted (DWI) and fluid-attenuated inversion recovery imaging (FLAIR) (Figs. 1a, b, c, and d). Associated hyperintense lesions on FLAIR were also found in the periventricular white matter and in the
right lateral frontal cortex (Figs. 1c, d and e). Sagittal and coronal T1-weighted images were only performed without gadolinium contrast and did not reveal any hypointense signal in the corpus callosum. She received a parenteral hydration and alimentation with supplement of thiamine (900 mg daily) and a 3-day course of high dose of methylprednisolone (1 g daily). One week later, she recovered a normal vigilance and the cervical dystonia had disappeared. The pyramidal symptoms were associated with cerebellar dysarthria, gait ataxia, and 4 limb dysmetria. The cognitive tests revealed a mini-mental score examination (MMSE) at 13 with frontal apathy and desinhibition, spatio-temporal disorientation, ideo-motor apraxia, and massive verbal long-term memory deficits. She was then transferred to a rehabilitation center. After 3 months of evolution, she was well oriented in time and space and able to walk without assistance. A marked improvement of the gait ataxia and dysarthria was also noted. She had mild executive disorders and left hand agraphia. The neuropsychological testing did not reveal neither any abnormalities of the somaesthetic transfer, nor left tactile anomia and unilateral hand apraxia. Dichotic presentations of verbal and visual contents were not performed. The control MRI showed on FLAIR a mild atrophy of the corpus callosum with persistent hypersignal in its ventral part from the genu to the splenium (Fig. 1f), and unchanged lesions in the right cortical frontal cortex and in the periventricular white matter. MBD can be subdivised into 2 main clinico-radiological subtypes: the acute type A and the chronic type B (Table 1, [1]). Our patient developed a type A-MBD, presenting as an acute onset partially reversible dementia with pyramidal and cerebellar signs. This clinical picture was preceded by stupor and acute cervical dystonia, without any striatal or mesencephalic changes on MRI. To our knowledge, such movement disorder has never been reported in MBD. MRI is the most sensitive tool for the diagnosis of MBD [2–4]. In the acute phase, a part or all the corpus callosum appears as a high signal intensity lesion on T2, FLAIR, and DWI imaging, reflecting both oedema and early demyelination. Areas of restricted diffusion correspond to cytotoxic oedema or to a myelin vacuolization and, unlike in stroke, can resolve without apparent damage [3]. Contrast enhancement of the corpus callosum has been rarely reported [5]. Associated lesions can be observed in the periventricular white matter, as well as in the cerebral cortex, particularly in the lateral frontal and temporal lobes, corresponding to the so-called ‘‘Morel’s cortical laminar sclerosis’’, a degeneration of the third and fourth cortical layers [6,7]. MRI changes in the chronic stages are due to a total myelin loss, including callosal atrophy, low signal intensity lesion on T1 and cavitation, predominating in the medial part of the corpus callosum. The etiology of MBD remains unclear. Alcoholism is the greatest risk factor. Nutritional factors have been suspected but no specific nutrient has been identified. Electrolytes disturbances may play an important role, such as in central pontine and extrapontine myelinolysis [2,7]. In a literature review of patients with hypernatremic ODS, callosal lesions were found on MRI in 41.4% and cortical lesions in 10.3% out of the cases [8]. Moreover, both MBD and
