The case of a 76-year-old female patient is presented with a two-year history of progressive deme... more The case of a 76-year-old female patient is presented with a two-year history of progressive dementia, apathy and gait impairment. Initially, Alzheimer's disease was diagnosed and she was given donepezil for one year with no significant improvement. An extensive blood and biochemical control revealed high serum calcium and parathormone levels, and normal thyroid hormones and anti-thyroid antibodies. Ultrasound of thyroid and parathyroid glands revealed an adenoma of the right parathyroid. The detailed investigation for causes of secondary hyperparathyroidism was negative. Due to the absence of clinical hyperparathyroidism she was initially treated conservatively. At referral, the neurological picture consisted of: mild signs of parkinsonism, moderate dementia (MMSE = 15) and severe behavioural disturbances. Because of the continuous aggravation of the cognitive deficit, parathyroidectomy was decided although there were no clinical or laboratory signs of involvement from other organs. Three weeks after the operation the neurological picture showed dramatical improvement. Parkinsonism and behavioural disorders were remarkably reduced and the MMSE score raised to 25.In summary we report an exceptional case of primary hyperparathyroidism (PHPT) presenting as dementia and treated successfully by parathyroidectomy.
Central nervous system (CNS) involvement in Langerhans' cell histiocytosi... more Central nervous system (CNS) involvement in Langerhans' cell histiocytosis (LCH) has been described as a progressive neurological disorder marked by motor and cognitive decline. Detailed analysis of ocular motor abnormalities is lacking. We report on a 60-year-old male with histologically confirmed LCH who developed oscillopsia and gait ataxia over a 1-year period. Eye movements recorded with infrared oculography revealed a high rate of square-wave jerks (SWJ) with frequencies of 41 min(-1) on average and amplitudes between 1 degrees and 7 degrees , as well as marked impairment of smooth tracking of sinusoidally moving targets. Furthermore, static posturography disclosed increased body sway, with an abnormally high sway path. The initial brain MRI was unremarkable. Due to the presumed cerebellar dysfunction we performed a second MRI 1 year later that disclosed deep cerebellar lesions compatible with LCH relapse within the CNS. The abnormal high SWJ rate and the impaired smooth pursuit performance correctly heralded later involvement of the cerebellum anticipating lesion appearance in the MRI.
Sjogren’s syndrome (SS), either primary or secondary, is rarely accompanied by CNS complications.... more Sjogren’s syndrome (SS), either primary or secondary, is rarely accompanied by CNS complications. We report the exceptional case of a patient with secondary SS, who presented orofacial dystonia as a consequence of her disease. Initial treatment with clonazepam and levetiracetam was unsuccessful. However, dystonia was dramatically improved by a treatment with corticosteroids. This case demonstrates that corticosteroids can be efficacious in the treatment of dystonia related to SS.
Background and purpose: The differential diagnosis between vascular dementia (VD) and Alzheimer’... more Background and purpose: The differential diagnosis between vascular dementia (VD) and Alzheimer’s disease (AD) or mixed dementia (MD) is not always easy in clinical practice. The purpose of the present study was to evaluate the cerebrospinal fluid (CSF) biomarkers tau protein in its total (τT) or hyperphosphorylated at threonin-181(τP-181) form and beta amyloid peptide 1–42 (Aβ42) alone and their combinations to investigate their diagnostic value in the discrimination between VD and AD or MD.Methods: The above CSF biomarkers were determined in duplicate and blind to the clinical diagnosis by double sandwich, enzyme-linked immunosorbent assay (ELISA) commercial kits (Innogenetics, Gent, Belgium) in 92 AD patients, 23 VD patients, 17 patients with MD and 68 controls.Results: Alzheimer’s disease and MD showed increased levels of τT, τP and reduced levels of Aβ42 as compared with the controls. The best discrimination between VD and AD or MD was achieved by the combination of all three biomarkers, correctly classifying ≥85% of patients, either in the form of a discriminant function or in the form of the τT × τP-181/Aβ42 formula.Conclusions: Cerebrospinal fluid biomarkers may be a useful adjunct for the discrimination between AD/ MD and VD in every day clinical practice.
Cavernous hemangiomas or cavernomas are uncommon vascular malformations of the central nervous sy... more Cavernous hemangiomas or cavernomas are uncommon vascular malformations of the central nervous system involving most commonly the cerebral hemispheres where they are detected in young to middle aged adults. We present an unusual case of acute monoparesis caused by an intramedullary cavernoma in a woman of advanced age. A 67-year-old woman presented with walking difficulties with acute onset 2 months previously. On neurologic examination, there was a pure right leg monoparesis with moderate spasticity. Tendon reflexes were brisk and there was a Babinski's sign in her right lower limb. The initial diagnosis was lacunar stroke, but the brain magnetic resonance imaging revealed a right temporal cavernoma-obviously not associated with her monoparesis. The consequent spinal MRI revealed an intramedullary lesion at the T1 level, consistent with a cavernoma. Our patient presented with an acute monoparesis because of a spinal cavernoma, a most unusual occurrence.
Dementia is generally considered as rapidly progressive [rapidly progressive dementia (RPD)], in ... more Dementia is generally considered as rapidly progressive [rapidly progressive dementia (RPD)], in cases with overt cognitive impairment, established within months. Data about the relative frequency of underlying diseases in cases of RPD are few and extremely variable, depending on the clinical setting. We examined the relative frequency of the underlying causes of RPD, in a university tertiary referral center, in Athens. A series of consecutive patients presenting with RPD in a 3-year period was included. All patients received a comprehensive clinical, imaging, and laboratory evaluation. Of a total of 279 patients hospitalized for dementia diagnosis, 68 patients had RPD (37 males and 31 females). Mean age at onset +/-SD was 65.5+/-10.0. The most common cause of RPD was secondary dementias, accounting for 18 cases (26.5%). Alzheimer disease and frontotemporal dementia were almost equally represented, accounting for 12 (17.6%) and 11 (16.2%) cases, respectively. Vascular dementia, Creutzfeldt-Jakob disease, and various neurodegenerative diseases accounted for 9 cases each (13.2%). In a tertiary referral center, secondary dementias represented the most frequent cause of cases presenting with RPD. As a substantial number of these cases are potentially treatable, our finding reconfirms and underscores the importance of an exhaustive evaluation in any case presenting with RPD.
Neurocysticercosis (NC) is the most frequent and widespread human neuroparasitosis. Glioblastoma ... more Neurocysticercosis (NC) is the most frequent and widespread human neuroparasitosis. Glioblastoma multiforme, a not infrequent brain neoplasm in young adults, may have a similar clinical and radiologic presentation as NC. Coexistence of NC and brain tumors has been very rarely reported and puts into question a causal relationship between the 2 diseases. Here we report the case of a patient in which glioblastoma multiforme and cysticercosis appeared concomitantly, making their clinical distinction very difficult.
Sirs: The association of chorea and motor neuron disease is extremely rare in clinical practice [... more Sirs: The association of chorea and motor neuron disease is extremely rare in clinical practice [1] and was initially reported by Fotopoulos in 1966 [2]. Here we report a case of late onset, genetically confirmed Huntington’s disease (HD) and sporadic amyotrophic lateral sclerosis (ALS) that appeared concomitantly.A 72-year-old woman presented with involuntary movements of the head and extremities. In the following 18 months, frequent falls and, later, dysarthria and dysphagia were added to the clinical picture while the choreic movements became more prominent. Her past history was unremarkable. She had no family history of ALS or HD, with the exception of involuntary movements of late onset (at the age of 70 years) and benign course that were reported in her brother.At the time of hospitalization, 20 months after her first symptoms, the neurological examination revealed jerky tendon reflexes on the upper and lower limbs, bilateral Babinski’s sign and a brisk masticatory reflex. There
Toluene toxicity primarily affects central nervous system white matter, causing a characteristic ... more Toluene toxicity primarily affects central nervous system white matter, causing a characteristic brain MRI pattern.A toluene addicted man, after an abstinence period and a treatment with neuroleptics, presented with severe worsening of preexisting generalized tremor, opsoclonus, dysarthria, gait inability, jerky tendon reflexes and behaviour disorders. Magnetic resonance imaging showed mild leukoencephalopathy and hypointensities in deep gray matter nuclei. The DaT-scan revealed a decrease in presynaptic dopamine reuptake.Clinical and neuroradiological findings and the possible sensitivity to neuroleptics indicate dopaminergic impairment. Our case suggests that chronic toluene abuse causes presynaptic dopaminergic depletion.
Cognitive dysfunction and sleep disruption are two frequent but underestimated features of adult ... more Cognitive dysfunction and sleep disruption are two frequent but underestimated features of adult onset myotonic dystrophy type 1 (MD1). In order to investigate the MD1 cognitive profile and its relationship with sleep disruption, 23 patients with genetically proved MD1 (mild-moderate in severity) underwent neuropsychological (nps) and polysomnography assessment. Patients scored lower than controls on almost all nps tests but cognitive impairments were mostly observed in executive functions (z-score = -2.14), with complex attention (z-score = -1.04), memory (z-score = -0.65), constructions (z-score = -1.29), and reasoning (z-score = -0.75) being slightly affected. Moderate-severe sleep apnea (apnea-hypopnea index [AHI] > or =15) was very frequent with most of the apneas being of the obstructive type. However, we found hardly any evidence of association between subjective, objective sleep parameters, and nps performance (p > .001). Thus, in our cohort of 23 adult MD1 patients, mild cognitive dysfunction, which is mostly related to the dysfunction of frontal association cortex and its underlying neural networks, does not seem to be significantly influenced by sleep disruption, which is mainly caused by obstructive apnea events.
The case of a 76-year-old female patient is presented with a two-year history of progressive deme... more The case of a 76-year-old female patient is presented with a two-year history of progressive dementia, apathy and gait impairment. Initially, Alzheimer's disease was diagnosed and she was given donepezil for one year with no significant improvement. An extensive blood and biochemical control revealed high serum calcium and parathormone levels, and normal thyroid hormones and anti-thyroid antibodies. Ultrasound of thyroid and parathyroid glands revealed an adenoma of the right parathyroid. The detailed investigation for causes of secondary hyperparathyroidism was negative. Due to the absence of clinical hyperparathyroidism she was initially treated conservatively. At referral, the neurological picture consisted of: mild signs of parkinsonism, moderate dementia (MMSE = 15) and severe behavioural disturbances. Because of the continuous aggravation of the cognitive deficit, parathyroidectomy was decided although there were no clinical or laboratory signs of involvement from other organs. Three weeks after the operation the neurological picture showed dramatical improvement. Parkinsonism and behavioural disorders were remarkably reduced and the MMSE score raised to 25.In summary we report an exceptional case of primary hyperparathyroidism (PHPT) presenting as dementia and treated successfully by parathyroidectomy.
Central nervous system (CNS) involvement in Langerhans' cell histiocytosi... more Central nervous system (CNS) involvement in Langerhans' cell histiocytosis (LCH) has been described as a progressive neurological disorder marked by motor and cognitive decline. Detailed analysis of ocular motor abnormalities is lacking. We report on a 60-year-old male with histologically confirmed LCH who developed oscillopsia and gait ataxia over a 1-year period. Eye movements recorded with infrared oculography revealed a high rate of square-wave jerks (SWJ) with frequencies of 41 min(-1) on average and amplitudes between 1 degrees and 7 degrees , as well as marked impairment of smooth tracking of sinusoidally moving targets. Furthermore, static posturography disclosed increased body sway, with an abnormally high sway path. The initial brain MRI was unremarkable. Due to the presumed cerebellar dysfunction we performed a second MRI 1 year later that disclosed deep cerebellar lesions compatible with LCH relapse within the CNS. The abnormal high SWJ rate and the impaired smooth pursuit performance correctly heralded later involvement of the cerebellum anticipating lesion appearance in the MRI.
Sjogren’s syndrome (SS), either primary or secondary, is rarely accompanied by CNS complications.... more Sjogren’s syndrome (SS), either primary or secondary, is rarely accompanied by CNS complications. We report the exceptional case of a patient with secondary SS, who presented orofacial dystonia as a consequence of her disease. Initial treatment with clonazepam and levetiracetam was unsuccessful. However, dystonia was dramatically improved by a treatment with corticosteroids. This case demonstrates that corticosteroids can be efficacious in the treatment of dystonia related to SS.
Background and purpose: The differential diagnosis between vascular dementia (VD) and Alzheimer’... more Background and purpose: The differential diagnosis between vascular dementia (VD) and Alzheimer’s disease (AD) or mixed dementia (MD) is not always easy in clinical practice. The purpose of the present study was to evaluate the cerebrospinal fluid (CSF) biomarkers tau protein in its total (τT) or hyperphosphorylated at threonin-181(τP-181) form and beta amyloid peptide 1–42 (Aβ42) alone and their combinations to investigate their diagnostic value in the discrimination between VD and AD or MD.Methods: The above CSF biomarkers were determined in duplicate and blind to the clinical diagnosis by double sandwich, enzyme-linked immunosorbent assay (ELISA) commercial kits (Innogenetics, Gent, Belgium) in 92 AD patients, 23 VD patients, 17 patients with MD and 68 controls.Results: Alzheimer’s disease and MD showed increased levels of τT, τP and reduced levels of Aβ42 as compared with the controls. The best discrimination between VD and AD or MD was achieved by the combination of all three biomarkers, correctly classifying ≥85% of patients, either in the form of a discriminant function or in the form of the τT × τP-181/Aβ42 formula.Conclusions: Cerebrospinal fluid biomarkers may be a useful adjunct for the discrimination between AD/ MD and VD in every day clinical practice.
Cavernous hemangiomas or cavernomas are uncommon vascular malformations of the central nervous sy... more Cavernous hemangiomas or cavernomas are uncommon vascular malformations of the central nervous system involving most commonly the cerebral hemispheres where they are detected in young to middle aged adults. We present an unusual case of acute monoparesis caused by an intramedullary cavernoma in a woman of advanced age. A 67-year-old woman presented with walking difficulties with acute onset 2 months previously. On neurologic examination, there was a pure right leg monoparesis with moderate spasticity. Tendon reflexes were brisk and there was a Babinski's sign in her right lower limb. The initial diagnosis was lacunar stroke, but the brain magnetic resonance imaging revealed a right temporal cavernoma-obviously not associated with her monoparesis. The consequent spinal MRI revealed an intramedullary lesion at the T1 level, consistent with a cavernoma. Our patient presented with an acute monoparesis because of a spinal cavernoma, a most unusual occurrence.
Dementia is generally considered as rapidly progressive [rapidly progressive dementia (RPD)], in ... more Dementia is generally considered as rapidly progressive [rapidly progressive dementia (RPD)], in cases with overt cognitive impairment, established within months. Data about the relative frequency of underlying diseases in cases of RPD are few and extremely variable, depending on the clinical setting. We examined the relative frequency of the underlying causes of RPD, in a university tertiary referral center, in Athens. A series of consecutive patients presenting with RPD in a 3-year period was included. All patients received a comprehensive clinical, imaging, and laboratory evaluation. Of a total of 279 patients hospitalized for dementia diagnosis, 68 patients had RPD (37 males and 31 females). Mean age at onset +/-SD was 65.5+/-10.0. The most common cause of RPD was secondary dementias, accounting for 18 cases (26.5%). Alzheimer disease and frontotemporal dementia were almost equally represented, accounting for 12 (17.6%) and 11 (16.2%) cases, respectively. Vascular dementia, Creutzfeldt-Jakob disease, and various neurodegenerative diseases accounted for 9 cases each (13.2%). In a tertiary referral center, secondary dementias represented the most frequent cause of cases presenting with RPD. As a substantial number of these cases are potentially treatable, our finding reconfirms and underscores the importance of an exhaustive evaluation in any case presenting with RPD.
Neurocysticercosis (NC) is the most frequent and widespread human neuroparasitosis. Glioblastoma ... more Neurocysticercosis (NC) is the most frequent and widespread human neuroparasitosis. Glioblastoma multiforme, a not infrequent brain neoplasm in young adults, may have a similar clinical and radiologic presentation as NC. Coexistence of NC and brain tumors has been very rarely reported and puts into question a causal relationship between the 2 diseases. Here we report the case of a patient in which glioblastoma multiforme and cysticercosis appeared concomitantly, making their clinical distinction very difficult.
Sirs: The association of chorea and motor neuron disease is extremely rare in clinical practice [... more Sirs: The association of chorea and motor neuron disease is extremely rare in clinical practice [1] and was initially reported by Fotopoulos in 1966 [2]. Here we report a case of late onset, genetically confirmed Huntington’s disease (HD) and sporadic amyotrophic lateral sclerosis (ALS) that appeared concomitantly.A 72-year-old woman presented with involuntary movements of the head and extremities. In the following 18 months, frequent falls and, later, dysarthria and dysphagia were added to the clinical picture while the choreic movements became more prominent. Her past history was unremarkable. She had no family history of ALS or HD, with the exception of involuntary movements of late onset (at the age of 70 years) and benign course that were reported in her brother.At the time of hospitalization, 20 months after her first symptoms, the neurological examination revealed jerky tendon reflexes on the upper and lower limbs, bilateral Babinski’s sign and a brisk masticatory reflex. There
Toluene toxicity primarily affects central nervous system white matter, causing a characteristic ... more Toluene toxicity primarily affects central nervous system white matter, causing a characteristic brain MRI pattern.A toluene addicted man, after an abstinence period and a treatment with neuroleptics, presented with severe worsening of preexisting generalized tremor, opsoclonus, dysarthria, gait inability, jerky tendon reflexes and behaviour disorders. Magnetic resonance imaging showed mild leukoencephalopathy and hypointensities in deep gray matter nuclei. The DaT-scan revealed a decrease in presynaptic dopamine reuptake.Clinical and neuroradiological findings and the possible sensitivity to neuroleptics indicate dopaminergic impairment. Our case suggests that chronic toluene abuse causes presynaptic dopaminergic depletion.
Cognitive dysfunction and sleep disruption are two frequent but underestimated features of adult ... more Cognitive dysfunction and sleep disruption are two frequent but underestimated features of adult onset myotonic dystrophy type 1 (MD1). In order to investigate the MD1 cognitive profile and its relationship with sleep disruption, 23 patients with genetically proved MD1 (mild-moderate in severity) underwent neuropsychological (nps) and polysomnography assessment. Patients scored lower than controls on almost all nps tests but cognitive impairments were mostly observed in executive functions (z-score = -2.14), with complex attention (z-score = -1.04), memory (z-score = -0.65), constructions (z-score = -1.29), and reasoning (z-score = -0.75) being slightly affected. Moderate-severe sleep apnea (apnea-hypopnea index [AHI] > or =15) was very frequent with most of the apneas being of the obstructive type. However, we found hardly any evidence of association between subjective, objective sleep parameters, and nps performance (p > .001). Thus, in our cohort of 23 adult MD1 patients, mild cognitive dysfunction, which is mostly related to the dysfunction of frontal association cortex and its underlying neural networks, does not seem to be significantly influenced by sleep disruption, which is mainly caused by obstructive apnea events.
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