Case Reports / Journal of Clinical Neuroscience 21 (2014) 867–869
variant and RNA studies to confirm the effect of the c.282+3A>G sequence variant on transcriptional splicing. This patient highlights the potential role of skin biopsy in the diagnosis of hereditary peripheral neuropathy. Used judiciously, this is a minimally invasive test that may reduce the need for general anaesthesia and nerve biopsy, and can help direct more expensive genetic investigations such as microarray analysis and sequencing of candidate genes. Conflicts of interest/disclosures The authors declare that they have no financial or other conflicts of interest in relation to this research and its publication. Acknowledgements We thank the Cytogenetics laboratory at the Victorian Clinical Genetics Service (VCGS) for performing the microarray analyses. GAN gene sequencing was performed at the Diagenos laboratories (Osnabrueck, Germany). We thank the patient’s family for consent to share the patient’s case.
867
References [1] Cai F, Zhang J. Study of nerve conduction and late responses in normal Chinese infants, children, and adults. J Child Neurol 1997;12:13–8. [2] Ouvrier RA. Giant axonal neuropathy. A review. Brain Dev 1989;11:207–14. [3] Buysse K, Vergult S, Mussche S, et al. Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene. Am J Med Genet A 2010;152A:2802–4. [4] Kent WJ, Sugnet CW, Furey TS, et al. The human genome browser at UCSC. Genome Res 2002;12:996–1006. [5] Wilmshurst JM, Ouvrier R. Hereditary peripheral neuropathies of childhood: an overview for clinicians. Neuromuscul Disord 2011;21:763–75. [6] Bonnaure-Mallet M, Tricot-Doleux S, Le Berre C. Gingival biopsy in the diagnosis of giant axonal neuropathy. J Oral Pathol Med 1995;24:89–92. [7] Diagos P, Bos JA, Verrips A, et al. Giant axonal neuropathy and anaesthesia. Anaesthesia 2003;58:723–4. [8] Dale RC, Grattan-Smith P, Nicholson M, et al. Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study. Dev Med Child Neurol 2012;54:618–23. [9] Kurian MA. The clinical utility of chromosomal microarray in childhood neurological disorders. Dev Med Child Neurol 2012;54:582–3. [10] Nowakowska BA, de Leeuw N, Ruivenkamp CA, et al. Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies. Eur J Hum Genet 2012;20:166–70.
http://dx.doi.org/10.1016/j.jocn.2013.06.012
Psychosis with obsessive-compulsive symptoms in tuberous sclerosis Islam K. Hassan a,⇑, Jeffrey C.L. Looi b, Dennis Velakoulis a, Frank Gaillard c, Elaine H. Lui c, Terence J. O’Brien d,e, Chris French d, Campbell Le Heron d, Sophia J. Adams a a
Melbourne Neuropsychiatry Centre, University of Melbourne, Level 2, John Cade Building, Royal Melbourne Hospital, Grattan Street, Parkville, Melbourne, VIC 3050, Australia Academic Unit of Psychological and Addiction Medicine, Australian National University Medical School, Canberra Hospital, Canberra, ACT, Australia c Department of Radiology, Royal Melbourne Hospital, Melbourne, VIC, Australia d Department of Neurology, Melbourne Brain Centre, University of Melbourne, Royal Melbourne Hospital, Melbourne, VIC, Australia e Department of Medicine, University of Melbourne, Melbourne, VIC, Australia b
a r t i c l e
i n f o
Article history: Received 29 July 2013 Accepted 13 August 2013
Keywords: Epilepsy Neuropsychiatry Obsessive compulsive disorder Psychosis Tuberous sclerosis
a b s t r a c t We present a case of tuberous sclerosis complex (TSC) diagnosed in adulthood in a man initially referred for specialist neuropsychiatric assessment with psychosis and obsessive-compulsive symptoms (OCS) on a background of epilepsy and intellectual disability. To our knowledge, this is the first reported patient with TSC featuring both psychosis and OCS. This patient highlights the importance of comprehensive re-evaluation of atypical presentations of intellectual disability, epilepsy and associated neuropsychiatric symptoms, even in adulthood. This is particularly relevant in the context of significant advances in genetics, neuroscience, imaging and treatments for heritable neurogenetic disorders. Ó 2013 Elsevier Ltd. All rights reserved.
1. Introduction Tuberous sclerosis complex (TSC) is a disabling multisystem condition of autosomal dominant inheritance with variable expression [1]. Making the diagnosis is challenging because of the variability of manifestations and because it can arise sporadically with no family history in two-thirds of patients and can test negatively on genotyping in 10–15% of patients [1]. Given that over 80% of patients are diagnosed by the age of 10 years, TSC might not be readily considered as a potential diagnosis by specialists in adult psychiatry and neurology [2]. Both psychosis and obsessive-compulsive disorder (OCD) have been separately described as neuropsychiatric comor-
⇑ Corresponding author. Tel.: +61 3 9342 8750; fax: +61 3 9342 8483. E-mail address: [email protected] (I.K. Hassan).
bidities in TSC [3,4]. However, to our knowledge there have been no reports of patients with TSC with a combination of psychosis and obsessive-compulsive symptoms (OCS) resulting in diagnosis in adulthood. This combination of psychiatric features, occasionally referred to – when arising independently of another organic syndrome – as schizo-obsessive syndrome, has been gaining interest as a proposed distinct syndrome carrying specific implications regarding diagnosis and management [5]. 2. Case report A 28-year-old single unemployed man with known history of intellectual disability, epilepsy and psychosis was referred to our prolonged inpatient video-electroencephalography monitoring unit to explore whether recent staring episodes were epileptic, and to explore the possibility of TSC suggested on recent brain
868
Case Reports / Journal of Clinical Neuroscience 21 (2014) 867–869
Fig. 1. Widespread MRI features characteristic of tuberous sclerosis. (A) Axial T1-weighted gradient echo; subependymal nodule (arrow) at the level of the foramen of Monro. (B) Axial phase contrast; small amount of calcification within a subependymal nodule (arrow). (C) Axial fluid attenuated inversion recovery (FLAIR); multiple subependymal nodules (closed arrow heads) and numerous cortical/subcortical regions of increased T2 signal consistent with tubers (open arrow heads). (D) Coronal FLAIR [7]; cortical/ subcortical tuber (open arrow head) with numerous radial glial bands extending from the ventricles to the cortex (closed arrow heads).
MRI. Both direct and collateral history indicated symptoms first arising around 5 years of age in the form of global learning disability and repetitive behaviours, without broader features indicative of autism spectrum disorder. Around the same age he had his first epileptic seizure and was treated primarily for idiopathic seizure disorder. He continued to have daily complex partial seizures and less frequent generalised tonic-clonic seizures until the seizures ultimately subsided at the age of 17 years on valproate without recurrence since then. At the age of 17 years, he began to experience psychotic symptoms. These were initially delusional beliefs that arose around the time a teacher had reportedly made a comment about his body odour. He became convinced that people around him, including strangers, were criticising his body odour through their physical gestures, such as scratching their noses. This caused him considerable anxiety which was only allayed – albeit briefly – by repeated showering that continued to the present time to a disabling extent. He currently continued to take up to five showers per day, each lasting up to 45 minutes. He also experienced auditory hallucinations that commenced within a year of the delusions which had also continued until present as well as ongoing outbursts of anger directed towards his parents which became increasingly concern-
ing as he grew in size. There was no history of substance misuse or family history of TSC. Overall, compulsions arose in response to delusions rather than true obsessions. The beliefs regarding body odour were ego-syntonic and at times arising from an external agency, which was more consistent with psychosis than with OCD. He was on 300 mg daily of amisulpride and had had past trials of risperidone and olanzapine, which had not been tolerated, and quetiapine and aripiprazole, which had been ineffective. Electroencephalography showed no epileptiform features. Epileptologist and neuropsychiatrist assessment deemed the staring episodes to be non-epileptic and more likely related to distraction, possibly related to auditory hallucinations. Dermatologist review noted possible confetti (hypomelanotic macule) lesions. Neuroradiologist examination of brain MRI (Fig. 1) reported tubers and subependymal nodules which fulfilled two of the major diagnostic criteria sufficient for diagnosis of TSC [6]. Renal ultrasound was negative for angiomyolipoma. 3. Discussion To our knowledge, this is the first reported patient with psychosis with OCS in the setting of TSC. The diagnosis of tuberous sclero-
Case Reports / Journal of Clinical Neuroscience 21 (2014) 869–872
sis was atypically made at the age of 28 years, despite the presence of a history of intellectual disability, seizures and psychosis since the patient’s teens, but which had not been considered as a unified syndrome as far as we are aware since childhood. This may be related to lack of awareness of the syndrome among medical practitioners as well as the lack of family history which is not uncommon in TSC [1]. Nonetheless, identifying TSC is important due to the increasing evidence for efficacy of rapamycin derivatives in tumour regression and overall quality of life [8]. Brain MRI should be requested with history of the full physical syndrome provided to the radiologist on referral in childhood, and on re-evaluation of symptoms. In this patient, the presentation with OCS and psychotic symptoms might have delayed diagnosis. The level of functional impairment related to the time-consuming compulsive behaviours could easily be prioritised by carers and medical practitioners relative to disorders of thought and perception which, moreover, can arise insidiously and about which patients are often reticent. This is particularly the case when psychotic symptoms arise simultaneously with OCS such that the latter can mask the former for some time. Although it is not clear to what extent this applies to the setting of TSC, a 10 year retrospective study of 133 patients with both Diagnostic and Statistical Manual of Mental Disorders, version IV (DSM-IV) OCD and DSM-IV schizophrenia demonstrated that psychotic symptoms had preceded OCS in only 37 of these patients [9]. Tuberous sclerosis diagnosis and, as a corollary, diagnosis of other neurogenetic disorders, may not occur in childhood. Persons with atypical presentations of intellectual disability, epilepsy and neuropsychiatric symptoms will occasionally present to psychia-
869
trists. Therefore, it is useful to comprehensively re-evaluate such presentations with a multidisciplinary approach and with appropriate neuropsychiatric investigation.
Conflicts of interest/disclosures The authors declare that they have no financial or other conflicts of interest in relation to this research and its publication. References [1] Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet 2008;372:657–68. [2] Staley BA, Vail EA, Thiele EA. Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs. Pediatrics 2011;127:e117–25. [3] Muzykewicz DA, Newberry P, Danforth N, et al. Psychiatric comorbid conditions in a clinic population of 241 patients with tuberous sclerosis complex. Epilepsy Behav 2007;11:506–13. [4] Bhattacharya A, Das S, Nath K, et al. Atypical presentation of tuberous sclerosis and obsessive compulsive disorder in an adult male. Ann Indian Acad Neurol 2012;15:161–2. [5] Poyurovsky M, Zohar J, Glick I, et al. Obsessive-compulsive symptoms in schizophrenia: implications for future psychiatric classifications. Compr Psychiatry 2012;53:480–3. [6] Roach ES, Sparagana SP. Diagnosis of tuberous sclerosis complex. J Child Neurol 2004;19:643–9. [7] Bernauer TA. The radial bands sign. Radiology 1999;212:761–2. [8] Krueger DA, Care MM, Holland K, et al. Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med 2010;363:1801–11. [9] Faragian S, Fuchs C, Pashinian A, et al. Age-of-onset of schizophrenic and obsessive-compulsive symptoms in patients with schizo-obsessive disorder. Psychiatry Res 2012;197:19–22.
http://dx.doi.org/10.1016/j.jocn.2013.08.005
Seizure-induced MRI changes mimicking metastatic brain disease Suresh Kumar Chhetri a,⇑, Sachin Mathur b, Calvin Soh c, David Gosal d a
Department of Neurology, Royal Preston Hospital, Lancashire Teaching Hospitals NHS Foundation Trust, Sharoe Green Lane, Preston, PR2 9HT, UK Department of Neuroradiology, Royal Preston Hospital, Lancashire Teaching Hospitals NHS Foundation Trust, Preston, UK c Department of Neuroradiology, Greater Manchester Neurosciences Centre, Salford Royal Hospital, Manchester, UK d Department of Neurology, Greater Manchester Neurosciences Centre, Salford Royal Hospital, Manchester, UK b
a r t i c l e
i n f o
Article history: Received 21 October 2012 Accepted 16 June 2013
Keywords: Non-convulsive status epilepticus Seizure induced reversible signal changes Tumour
a b s t r a c t Non-convulsive status epilepticus (NCSE) can present with heterogeneous clinical manifestations including prolonged confusion. MRI of the brain may demonstrate enhancing signal abnormalities that can mimic various pathologies including disease progression in patients with brain tumour. These neuroimaging changes are usually reversible and have been attributed to a combination of cytotoxic and vasogenic oedema. We report an interesting patient with a past history of prostatic rhabdomyosarcoma and brain metastasis presenting with NCSE where brain MRI demonstrated marked left hemispheric signal abnormalities, raising concerns about tumour recurrence. However the neuroimaging changes resolved following treatment with intravenous anticonvulsants, confirming that they were an effect rather than the cause of seizures. Recognition of seizure-related imaging abnormalities is important to institute prompt appropriate treatment, and to avoid diagnostic ambiguity and unnecessary treatment and/or investigations. Ó 2013 Elsevier Ltd. All rights reserved.
1. Introduction MRI is an essential investigation in the diagnostic evaluation of seizures to identify an underlying structural epileptogenic pathol-
⇑ Corresponding author. Tel.: +44 17 7252 2256; fax: +44 17 7252 3165. E-mail address: [email protected] (S.K. Chhetri).
ogy. However in some occasions, MRI abnormalities may represent an effect rather than the cause of seizures. These seizure-induced abnormalities are usually transient and include focal gyral swelling, loss of gray/white differentiation, and parenchymal and meningeal contrast enhancement [1–3]. Although described mostly in the context of convulsive status epilepticus, these abnormalities have also been reported in association with non-convulsive status epilepticus (NCSE) [2,4]. We present a patient with NCSE present-
variant and RNA studies to confirm the effect of the c.282+3A>G sequence variant on transcriptional splicing. This patient highlights the potential role of skin biopsy in the diagnosis of hereditary peripheral neuropathy. Used judiciously, this is a minimally invasive test that may reduce the need for general anaesthesia and nerve biopsy, and can help direct more expensive genetic investigations such as microarray analysis and sequencing of candidate genes. Conflicts of interest/disclosures The authors declare that they have no financial or other conflicts of interest in relation to this research and its publication. Acknowledgements We thank the Cytogenetics laboratory at the Victorian Clinical Genetics Service (VCGS) for performing the microarray analyses. GAN gene sequencing was performed at the Diagenos laboratories (Osnabrueck, Germany). We thank the patient’s family for consent to share the patient’s case.
867
References [1] Cai F, Zhang J. Study of nerve conduction and late responses in normal Chinese infants, children, and adults. J Child Neurol 1997;12:13–8. [2] Ouvrier RA. Giant axonal neuropathy. A review. Brain Dev 1989;11:207–14. [3] Buysse K, Vergult S, Mussche S, et al. Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene. Am J Med Genet A 2010;152A:2802–4. [4] Kent WJ, Sugnet CW, Furey TS, et al. The human genome browser at UCSC. Genome Res 2002;12:996–1006. [5] Wilmshurst JM, Ouvrier R. Hereditary peripheral neuropathies of childhood: an overview for clinicians. Neuromuscul Disord 2011;21:763–75. [6] Bonnaure-Mallet M, Tricot-Doleux S, Le Berre C. Gingival biopsy in the diagnosis of giant axonal neuropathy. J Oral Pathol Med 1995;24:89–92. [7] Diagos P, Bos JA, Verrips A, et al. Giant axonal neuropathy and anaesthesia. Anaesthesia 2003;58:723–4. [8] Dale RC, Grattan-Smith P, Nicholson M, et al. Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study. Dev Med Child Neurol 2012;54:618–23. [9] Kurian MA. The clinical utility of chromosomal microarray in childhood neurological disorders. Dev Med Child Neurol 2012;54:582–3. [10] Nowakowska BA, de Leeuw N, Ruivenkamp CA, et al. Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies. Eur J Hum Genet 2012;20:166–70.
http://dx.doi.org/10.1016/j.jocn.2013.06.012
Psychosis with obsessive-compulsive symptoms in tuberous sclerosis Islam K. Hassan a,⇑, Jeffrey C.L. Looi b, Dennis Velakoulis a, Frank Gaillard c, Elaine H. Lui c, Terence J. O’Brien d,e, Chris French d, Campbell Le Heron d, Sophia J. Adams a a
Melbourne Neuropsychiatry Centre, University of Melbourne, Level 2, John Cade Building, Royal Melbourne Hospital, Grattan Street, Parkville, Melbourne, VIC 3050, Australia Academic Unit of Psychological and Addiction Medicine, Australian National University Medical School, Canberra Hospital, Canberra, ACT, Australia c Department of Radiology, Royal Melbourne Hospital, Melbourne, VIC, Australia d Department of Neurology, Melbourne Brain Centre, University of Melbourne, Royal Melbourne Hospital, Melbourne, VIC, Australia e Department of Medicine, University of Melbourne, Melbourne, VIC, Australia b
a r t i c l e
i n f o
Article history: Received 29 July 2013 Accepted 13 August 2013
Keywords: Epilepsy Neuropsychiatry Obsessive compulsive disorder Psychosis Tuberous sclerosis
a b s t r a c t We present a case of tuberous sclerosis complex (TSC) diagnosed in adulthood in a man initially referred for specialist neuropsychiatric assessment with psychosis and obsessive-compulsive symptoms (OCS) on a background of epilepsy and intellectual disability. To our knowledge, this is the first reported patient with TSC featuring both psychosis and OCS. This patient highlights the importance of comprehensive re-evaluation of atypical presentations of intellectual disability, epilepsy and associated neuropsychiatric symptoms, even in adulthood. This is particularly relevant in the context of significant advances in genetics, neuroscience, imaging and treatments for heritable neurogenetic disorders. Ó 2013 Elsevier Ltd. All rights reserved.
1. Introduction Tuberous sclerosis complex (TSC) is a disabling multisystem condition of autosomal dominant inheritance with variable expression [1]. Making the diagnosis is challenging because of the variability of manifestations and because it can arise sporadically with no family history in two-thirds of patients and can test negatively on genotyping in 10–15% of patients [1]. Given that over 80% of patients are diagnosed by the age of 10 years, TSC might not be readily considered as a potential diagnosis by specialists in adult psychiatry and neurology [2]. Both psychosis and obsessive-compulsive disorder (OCD) have been separately described as neuropsychiatric comor-
⇑ Corresponding author. Tel.: +61 3 9342 8750; fax: +61 3 9342 8483. E-mail address: [email protected] (I.K. Hassan).
bidities in TSC [3,4]. However, to our knowledge there have been no reports of patients with TSC with a combination of psychosis and obsessive-compulsive symptoms (OCS) resulting in diagnosis in adulthood. This combination of psychiatric features, occasionally referred to – when arising independently of another organic syndrome – as schizo-obsessive syndrome, has been gaining interest as a proposed distinct syndrome carrying specific implications regarding diagnosis and management [5]. 2. Case report A 28-year-old single unemployed man with known history of intellectual disability, epilepsy and psychosis was referred to our prolonged inpatient video-electroencephalography monitoring unit to explore whether recent staring episodes were epileptic, and to explore the possibility of TSC suggested on recent brain
868
Case Reports / Journal of Clinical Neuroscience 21 (2014) 867–869
Fig. 1. Widespread MRI features characteristic of tuberous sclerosis. (A) Axial T1-weighted gradient echo; subependymal nodule (arrow) at the level of the foramen of Monro. (B) Axial phase contrast; small amount of calcification within a subependymal nodule (arrow). (C) Axial fluid attenuated inversion recovery (FLAIR); multiple subependymal nodules (closed arrow heads) and numerous cortical/subcortical regions of increased T2 signal consistent with tubers (open arrow heads). (D) Coronal FLAIR [7]; cortical/ subcortical tuber (open arrow head) with numerous radial glial bands extending from the ventricles to the cortex (closed arrow heads).
MRI. Both direct and collateral history indicated symptoms first arising around 5 years of age in the form of global learning disability and repetitive behaviours, without broader features indicative of autism spectrum disorder. Around the same age he had his first epileptic seizure and was treated primarily for idiopathic seizure disorder. He continued to have daily complex partial seizures and less frequent generalised tonic-clonic seizures until the seizures ultimately subsided at the age of 17 years on valproate without recurrence since then. At the age of 17 years, he began to experience psychotic symptoms. These were initially delusional beliefs that arose around the time a teacher had reportedly made a comment about his body odour. He became convinced that people around him, including strangers, were criticising his body odour through their physical gestures, such as scratching their noses. This caused him considerable anxiety which was only allayed – albeit briefly – by repeated showering that continued to the present time to a disabling extent. He currently continued to take up to five showers per day, each lasting up to 45 minutes. He also experienced auditory hallucinations that commenced within a year of the delusions which had also continued until present as well as ongoing outbursts of anger directed towards his parents which became increasingly concern-
ing as he grew in size. There was no history of substance misuse or family history of TSC. Overall, compulsions arose in response to delusions rather than true obsessions. The beliefs regarding body odour were ego-syntonic and at times arising from an external agency, which was more consistent with psychosis than with OCD. He was on 300 mg daily of amisulpride and had had past trials of risperidone and olanzapine, which had not been tolerated, and quetiapine and aripiprazole, which had been ineffective. Electroencephalography showed no epileptiform features. Epileptologist and neuropsychiatrist assessment deemed the staring episodes to be non-epileptic and more likely related to distraction, possibly related to auditory hallucinations. Dermatologist review noted possible confetti (hypomelanotic macule) lesions. Neuroradiologist examination of brain MRI (Fig. 1) reported tubers and subependymal nodules which fulfilled two of the major diagnostic criteria sufficient for diagnosis of TSC [6]. Renal ultrasound was negative for angiomyolipoma. 3. Discussion To our knowledge, this is the first reported patient with psychosis with OCS in the setting of TSC. The diagnosis of tuberous sclero-
Case Reports / Journal of Clinical Neuroscience 21 (2014) 869–872
sis was atypically made at the age of 28 years, despite the presence of a history of intellectual disability, seizures and psychosis since the patient’s teens, but which had not been considered as a unified syndrome as far as we are aware since childhood. This may be related to lack of awareness of the syndrome among medical practitioners as well as the lack of family history which is not uncommon in TSC [1]. Nonetheless, identifying TSC is important due to the increasing evidence for efficacy of rapamycin derivatives in tumour regression and overall quality of life [8]. Brain MRI should be requested with history of the full physical syndrome provided to the radiologist on referral in childhood, and on re-evaluation of symptoms. In this patient, the presentation with OCS and psychotic symptoms might have delayed diagnosis. The level of functional impairment related to the time-consuming compulsive behaviours could easily be prioritised by carers and medical practitioners relative to disorders of thought and perception which, moreover, can arise insidiously and about which patients are often reticent. This is particularly the case when psychotic symptoms arise simultaneously with OCS such that the latter can mask the former for some time. Although it is not clear to what extent this applies to the setting of TSC, a 10 year retrospective study of 133 patients with both Diagnostic and Statistical Manual of Mental Disorders, version IV (DSM-IV) OCD and DSM-IV schizophrenia demonstrated that psychotic symptoms had preceded OCS in only 37 of these patients [9]. Tuberous sclerosis diagnosis and, as a corollary, diagnosis of other neurogenetic disorders, may not occur in childhood. Persons with atypical presentations of intellectual disability, epilepsy and neuropsychiatric symptoms will occasionally present to psychia-
869
trists. Therefore, it is useful to comprehensively re-evaluate such presentations with a multidisciplinary approach and with appropriate neuropsychiatric investigation.
Conflicts of interest/disclosures The authors declare that they have no financial or other conflicts of interest in relation to this research and its publication. References [1] Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet 2008;372:657–68. [2] Staley BA, Vail EA, Thiele EA. Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs. Pediatrics 2011;127:e117–25. [3] Muzykewicz DA, Newberry P, Danforth N, et al. Psychiatric comorbid conditions in a clinic population of 241 patients with tuberous sclerosis complex. Epilepsy Behav 2007;11:506–13. [4] Bhattacharya A, Das S, Nath K, et al. Atypical presentation of tuberous sclerosis and obsessive compulsive disorder in an adult male. Ann Indian Acad Neurol 2012;15:161–2. [5] Poyurovsky M, Zohar J, Glick I, et al. Obsessive-compulsive symptoms in schizophrenia: implications for future psychiatric classifications. Compr Psychiatry 2012;53:480–3. [6] Roach ES, Sparagana SP. Diagnosis of tuberous sclerosis complex. J Child Neurol 2004;19:643–9. [7] Bernauer TA. The radial bands sign. Radiology 1999;212:761–2. [8] Krueger DA, Care MM, Holland K, et al. Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med 2010;363:1801–11. [9] Faragian S, Fuchs C, Pashinian A, et al. Age-of-onset of schizophrenic and obsessive-compulsive symptoms in patients with schizo-obsessive disorder. Psychiatry Res 2012;197:19–22.
http://dx.doi.org/10.1016/j.jocn.2013.08.005
Seizure-induced MRI changes mimicking metastatic brain disease Suresh Kumar Chhetri a,⇑, Sachin Mathur b, Calvin Soh c, David Gosal d a
Department of Neurology, Royal Preston Hospital, Lancashire Teaching Hospitals NHS Foundation Trust, Sharoe Green Lane, Preston, PR2 9HT, UK Department of Neuroradiology, Royal Preston Hospital, Lancashire Teaching Hospitals NHS Foundation Trust, Preston, UK c Department of Neuroradiology, Greater Manchester Neurosciences Centre, Salford Royal Hospital, Manchester, UK d Department of Neurology, Greater Manchester Neurosciences Centre, Salford Royal Hospital, Manchester, UK b
a r t i c l e
i n f o
Article history: Received 21 October 2012 Accepted 16 June 2013
Keywords: Non-convulsive status epilepticus Seizure induced reversible signal changes Tumour
a b s t r a c t Non-convulsive status epilepticus (NCSE) can present with heterogeneous clinical manifestations including prolonged confusion. MRI of the brain may demonstrate enhancing signal abnormalities that can mimic various pathologies including disease progression in patients with brain tumour. These neuroimaging changes are usually reversible and have been attributed to a combination of cytotoxic and vasogenic oedema. We report an interesting patient with a past history of prostatic rhabdomyosarcoma and brain metastasis presenting with NCSE where brain MRI demonstrated marked left hemispheric signal abnormalities, raising concerns about tumour recurrence. However the neuroimaging changes resolved following treatment with intravenous anticonvulsants, confirming that they were an effect rather than the cause of seizures. Recognition of seizure-related imaging abnormalities is important to institute prompt appropriate treatment, and to avoid diagnostic ambiguity and unnecessary treatment and/or investigations. Ó 2013 Elsevier Ltd. All rights reserved.
1. Introduction MRI is an essential investigation in the diagnostic evaluation of seizures to identify an underlying structural epileptogenic pathol-
⇑ Corresponding author. Tel.: +44 17 7252 2256; fax: +44 17 7252 3165. E-mail address: [email protected] (S.K. Chhetri).
ogy. However in some occasions, MRI abnormalities may represent an effect rather than the cause of seizures. These seizure-induced abnormalities are usually transient and include focal gyral swelling, loss of gray/white differentiation, and parenchymal and meningeal contrast enhancement [1–3]. Although described mostly in the context of convulsive status epilepticus, these abnormalities have also been reported in association with non-convulsive status epilepticus (NCSE) [2,4]. We present a patient with NCSE present-
