[A case of hereditary sensory and autonomic neuropathy type 1E with frontal lobe dysfunction as an initial symptom].

A 49-year-old man had developed gradually personality change, gait disturbance, and hearing loss for five years. On admission, he presented with frontal release signs, stuttering, vertical gaze palsy, sensorineural deafness, muscle rigidity, ataxia, and sensory disturbance with areflexia in the lower extremities. Brain MRI demonstrated atrophy in the cerebellum and midbrain tegmentum as well as cerebral atrophy, predominantly in the frontal lobe. He was tentatively diagnosed as progressive supranuclear palsy on the basis of clinical features and imagings. On nerve conduction study, no sensory nerve action potentials were elicited in the upper and lower extremities. Details of family history revealed a hereditary sensory neuropathy with autosomal dominant inheritance in his relatives. Because genetic analysis showed a rare missense mutation (c.1483T>C, p.Y495H) in DNA methyltransferase 1 gene, we diagnosed him as having hereditary sensory and autonomic neuropathy type 1E (HSAN1E). In addition, p.M232R mutation in prion protein gene was detected. It should be kept in mind that there are some patients with HSAN1E presenting with frontal lobe dysfunction as an initial symptom and with clinical features mimicking progressive supranuclear palsy.

Efficacy of Early Superficial Temporal Artery-Middle Cerebral Artery Double Anastomoses for Atherosclerotic Occlusion in Patients with Progressing Stroke.

BACKGROUND: We investigated the efficacy of early superficial temporal artery-middle cerebral artery (STA-MCA) double anastomoses for patients with progressing stroke due to atherosclerotic occlusion. MATERIALS AND METHODS: Nine consecutive patients who underwent early STA-MCA double anastomoses were enrolled. All patients presented with progressing stroke despite maximal medical treatment. Cerebral blood flow in 7 patients was analyzed by single-photon emission tomography. Clinical outcomes were investigated postoperatively, and we evaluated the utility of early STA-MCA double anastomoses. RESULTS: Nine patients in the present study included those with middle cerebral artery occlusion (n = 6) and internal carotid artery occlusion (n = 3). The mean age was 58.4 years. Subjects comprised 1 female (11.1%) and 8 males (88.9%). The cause was low perfusion ischemia due to atherosclerotic occlusion with a small infarct. The mean regional cerebral blood flow (rCBF) ratio in the middle cerebral artery territory compared to the normal side was 69.6 ± 5.3%. The duration from onset to surgery was 1-8 days (median, 3.11 days). All patients underwent early STA-MCA double anastomoses, and no reperfusion-induced hemorrhage occurred. All of them slowly achieved obvious remission compared to symptoms on admission and achieved a good functional outcome. CONCLUSIONS: Early STA-MCA double anastomoses were safe and effective, and early revascularization resulted in rapid neurological improvement. We recommend this procedure for patients with progressive ischemia due to main trunk artery occlusion, when the rCBF flow ratio with the normal side was 70 ± 10%, even at the subacute stage.

Usefulness of cervical computed tomography and magnetic resonance imaging for rapid diagnosis of crowned dens syndrome: A case report and review of the literature.

INTRODUCTION: Crowned dens syndrome is a rare disease entity which radiologically shows calcification of the cruciform ligament around the odontoid process. We report a patient with crowned dens syndrome who improved dramatically in 5days following treatment with oral nonsteroidal anti-inflammatory medication. PRESENTATION OF CASE: A 61-year-old man was admitted to our hospital with a severe occipital headache and sudden onset of neck stiffness. Neurological examination on admission revealed a high fever and cervical rigidity. Laboratory examination revealed a markedly elevated white blood cell count and C-reactive protein level, but cerebrospinal fluid studies revealed only a slight abnormality. A cervical computed tomography scan and its three-dimensional reconstruction detected a remarkable crown-like calcification surrounding the odontoid process. Cervical magnetic resonance imaging did not demonstrate strong direct compression of the cervical cord; however, the soft tissue surrounding the odontoid process was hyperintense on T2-weighted imaging with fat suppression. Based on the radiological findings, the patient was diagnosed with crowned dens syndrome and was immediately treated with non-steroidal anti-inflammatory drugs. The patient's condition drastically improved within 5days. DISCUSSION: It was very interesting that the soft tissue surrounding the odontoid process was hyperintense on magnetic resonance T2-weighted imaging with fat suppression, and the signal change disappeared 2 weeks after the administration of oral non-steroidal anti-inflammatory drugs. We think that magnetic resonance imaging is useful for proving inflammation in patients with crowned dens syndrome. CONCLUSION: This is the first report making reference to the magnetic resonance imaging findings of crowned dens syndrome.

Importance of perioperative management for emergency carotid artery stenting within 24h after intravenous thrombolysis for acute ischemic stroke: Case report.

INTRODUCTION: We report a patient treated successfully via endovascular surgery within 24h after intravenous thrombolysis using recombinant tissue plasminogen activator for acute cervical internal carotid artery occlusion. PRESENTATION OF CASE: A 68-year-old man was admitted to our hospital. Neurological examination revealed severe left-sided motor weakness. Magnetic resonance imaging showed no cerebral infarction, but magnetic resonance angiography revealed complete occlusion of the right internal carotid artery. Systemic intravenous injection of recombinant tissue plasminogen activator was performed within 4h after the onset. But, magnetic resonance angiography still revealed complete occlusion. Revascularization of the right cervical internal carotid artery was performed via endovascular surgery. The occluded artery was successfully recanalized using the Penumbra System(®) and stent placement at the origin of the internal carotid artery. Immediately after surgery, dual antiplatelet therapy (aspirin and clopidogrel) was initiated, and then cilostazol was added on the following day. Carotid ultrasonography and three-dimensional computed tomographic angiography at 14days revealed no further obstruction to flow. DISCUSSION: When trying to perform emergency carotid artery stenting within 24h after intravenous recombinant tissue plasminogen activator administration, several issues require attention, such as the decisions regarding the type of stent and embolic protection device, the selection of antiplatelet therapy and the methods of preventing hyperperfusion syndrome. CONCLUSION: Emergency carotid artery stenting for the acute internal carotid artery occlusion may be considered a safe procedure in preventing early stroke recurrence in selected patients.

Useless hand syndrome with astereognosis in multiple sclerosis.

We report on a patient with multiple sclerosis (MS) who developed bilateral useless hand syndrome (UHS) and astereognosis. Clinical features of UHS in our patient are similar to limb-kinetic apraxia with astereognosis. Cervical T1-weighted magnetic resonance imaging revealed a gadolinium-enhanced lesion at the level of C3-C4, mainly involving the posterior cord. This patient suggests that posterior cord lesions at high cervical levels cause UHS and astereognosis in MS, involving the sensorimotor integration needed to execute complex finger movements.

[A case of Creutzfeldt-Jakob disease presenting with arm levitation as an initial symptom].

A 74-year-old, right handed man, developed insidiously with levitation and clumsiness of the right upper limb. His right arm tended to levitate spontaneously, when he was examined. He could put the elevated arm down on command, while the arm resumed to antigravity posture when his attention was diverted. His right arm also exhibited unwilled elevation when performing complex finger movements on the right side. He had a feeling of strangeness of the elevated limb, especially with the eyes closed. In addition to asymmetric limb-kinetic apraxia, combined sensations such as stereognosis were disturbed on the right side. Brain MRI showed high signal lesions predominantly in the left cerebral cortices and basal ganglia. SPECT with (123)I-IMP revealed asymmetric hypoperfusion, predominantly in the left medial frontal and parietal regions. Two months after the onset, levitation of the arm gradually disappeared, with the development of rapidly progressive dementia, frontal signs, dystonia and generalized myoclonus. The diagnosis of Creutzfeldt-Jakob disease (CJD) was made based on the clinical features and cerebrospinal fluid biomarkers. The early manifestation of the patient mimicked corticobasal degeneration which presents with arm levitation or alien hand syndrome. It is suggested that CJD can represent involuntary movements with higher brain dysfunction resembling corticobasal degeneration at the early stage of the illness. Although the underlying mechanism of arm levitation is still unknown, frontal disinhibition and parietal cortical sensory disturbance may contribute to the development of involuntary arm levitation in our patient.

Clinical correlates of anhedonia in patients with Parkinson's disease.

OBJECTIVE: To investigate the prevalence and clinical correlates of anhedonia in patients with Parkinson's disease (PD) and to also examine the relationship between anhedonia and the QOL. METHODS: One hundred and seventeen patients with PD completed the Snaith-Hamilton Pleasure Scale (SHAPS), the State-Trait Anxiety Inventory (STAI), the Beck Depression Inventory Second Edition (BDI-II), Starkstein's Apathy Scale (AS) and a quality of life (QOL) battery. Hoehn and Yahr (HY) staging, the Unified Parkinson's Disease Rating Scale (UPDRS) and the Mini-Mental State Examination (MMSE) were administered on the same day. RESULTS: Anhedonia (SHAPS score≥3) was diagnosed in 15% of the patients. The SHAPS score was found to be significantly correlated with the HY stage and the UPDRS (I, IVB, IVC, total), BDI-II, AS and STAI (State, Trait) scores. A multivariate analysis revealed that the BDI-II and STAI (Trait) scores significantly influenced the SHAPS scores. The SHAPS scores were found to be negatively correlated with the QOL. CONCLUSIONS: These findings indicate that anhedonia is associated with depression and anxiety. In addition, recognizing anhedonia in patients with PD is important since it may have a negative effect on the QOL.

Anxiety and depression in patients with Parkinson's disease.

OBJECTIVE: To investigate the prevalence and clinical correlates of anxiety and depression in patients with Parkinson's disease (PD) and to examine the relationship between anxiety and depression and the quality of life (QOL). METHODS: One hundred and seventeen patients with PD completed the state-trait anxiety inventory (STAI), the beck depression inventory second edition (BDI-II), Starkstein's apathy scale (AS) and QOL battery. Hoehn and Yahr (HY) staging, the unified Parkinson's disease rating scale (UPDRS) and the mini-mental state examination (MMSE) were administered on the same day. RESULTS: Anxiety (STAI score ≥41 for men or ≥42 for women) was diagnosed in 55% of the patients and depression (BDI-II score ≥14) was diagnosed in 56% of the patients. Anxiety coexisted with depression in 41% of the patients, while depression without anxiety was observed in 15% of the patients and anxiety without depression was observed in 14% of the patients. The STAI score was found to be significantly correlated with the UPDRS (I, IV) and AS scores, whereas the BDI-II score was found to correlate with the HY stage and the UPDRS (I, III, IV) and AS scores. Both the STAI and BDI-II scores were found to negatively correlate with QOL. A multivariate analysis revealed that depression and anxiety are similarly associated with the PD specific QOL (PDQ-39), while motor severity, as judged by the HY stage and UPDRS III score, is not. CONCLUSION: These findings indicate that recognizing anxiety and depression in patients with PD is important, since both conditions are commonly observed in patients with PD and are similarly associated with the QOL, independent of motor severity.

[A case of progressive supranuclear palsy with late-onset supplementary motor area seizure].

We report a 75-year-old, right-handed man, presenting with supplementary motor area (SMA) seizure. The patient had suffered from frequent attacks of transient inability to speak and move without loss of awareness. On admission, he presented with vertical gaze paresis, axial rigidity, paratonia of extremities and gait disturbance. The attacks were preceded by discomfort on the head, followed by inability to move the whole body and arrest of vocalization with tonic posture and exaggerated breathing. Consciousness and cognitive function were preserved throughout the attacks. Electroencephalography recorded intermittently slow theta waves in the bifrontal regions. Brain MRI showed atrophy of the midbrain tegmentum with lacunar state suggesting progressive supranuclear palsy. SPECT with 123I-iomazenil revealed decreased uptake in the medial frontal areas including SMA, bilaterally. The seizures resolved completely following treatment with carbamazepine. Based on clinical features and neuroimagings, we speculated that the negative motor area within SMA was responsible for his seizure. Physicians should keep in mind that SMA seizure comprising negative motor phenomenon can occur in the elderly.

Apathy and depression in Parkinson disease.

The purpose of this study was to investigate the prevalence and clinical correlates of apathy and depression in Parkinson disease (PD), and to clarify whether apathy can be dissociated from depression. One hundred fifty patients with PD completed the Beck Depression Inventory Second Edition (BDI-II), Starkstein's Apathy Scale (AS), and a quality of life (QOL) battery. Hoehn and Yahr (HY) staging, the Unified Parkinson's Disease Rating Scale (UPDRS), and the Mini-Mental State Examination (MMSE) were performed on the same day. Apathy (AS score > or = 16) was diagnosed in 60% of patients and depression (BDI-II score > or = 14) in 56%. Apathy coexisted with depression in 43% of patients, compared with depression without apathy in 13% and apathy without depression in 17%. Apathy scale score was significantly correlated with UPDRS scores, HY stage, and age, whereas BDI-II score was correlated only with UPDRS scores. Both AS and BDI-II scores were negatively correlated with QOL. However, multiple regression analysis revealed that depression was strongly and negatively associated with emotional well-being and communication, whereas apathy was mainly associated with cognition and stigma. These findings suggest that apathy and depression may be separable in PD, although both are common in patients with PD and are associated with QOL.

[A case of Creutzfeldt-Jakob disease with stroke-like episode as an initial symptom].

A 79-year-old woman was admitted to our hospital, due to acute onset of left hemiparesis and disturbance of consciousness. Although her symptoms improved temporarily, she developed gait disturbance and cognitive deterioration 2 months after the onset. After that, she presented with myoclonus and startle response, followed by akinetic mutism within 8 months after the onset. Serial EEGs revealed no periodic synchronous discharge. Serial diffusion-weighted MRIs showed that high intensity lesions, which initially limited to the right cerebral cortex, gradually spread to the bilateral cerebral cortices and basal ganglia, with relative sparing of central gyri, medial occipital cortices, and hippocampus. Prion protein gene analysis revealed a point mutation (Val-->Ile) at codon 180. The result of this patient suggests that this type of CJD might be associated with an atypical clinical course such as stroke-like episode and selective involvement of cortical and subcortical lesions.

[Pulseless arrest in an elderly patient treated with intravenous tissue plasminogen activator for cardioembolic ischemic stroke].

A 77-year-old woman, who had a history of rheumatic mitral stenosis with atrial fibrillation (AF), was referred and admitted to our hospital because of a transient ischemic attack at 4: 55 p.m.. She had taken warfarin for over 10 years, but her condition was not well controlled on admission. At 8: 30 p.m., she had acute ischemic stroke with right facial palsy, right hemiparesis and slurred speech. At 10: 35 p.m., she was treated with intravenous tissue plasminogen activator (t-PA) and her neurological deficits almost fully recovered by 0: 05 a.m. (90 min after t-PA started). At 0: 08 a.m., she collapsed due to sudden pulseless arrest. Using advanced life support, she soon recovered with no complications. After mitral valve replacement and left atrial appendectomy, she was discharged with a modified Rankin scale 0 at day 40. To the best of our knowledge, this is the first case report showing pulseless arrest immediately after treatment with t-PA in an elderly patient with ischemic stroke. Left insular injury seemed to be a crucial mechanism of pulseless arrest in this case.

[Case of multiple sclerosis with WEBINO syndrome].

We report a 50-year-old man presenting with wall-eyed bilateral internuclear opthalmoplegia (WEBINO) syndrome. He had suffered from progressive double vision and tetraparesis, and been diagnosed as secondary progressive multiple sclerosis (MS). On admission, he presented with bilateral facial nerve palsy, pseudobulber palsy, and spastic tetraparesis, predominantly on the right side. Bilateral adduction deficits were noted on horizontal gaze, together with nystagmus of abducting eyes. On primary eye position, the right eye was fixed in the midposition, while the left eye was exotropic. The right eye was deviated outward on fixation with the left eye. Vertical gaze and convergence were preserved. These ocular findings were compatible with WEBINO and considered to result from impairment of bilateral medial longitudinal fasciculus and imbalance of paramedian pontine reticular formation on both sides. T2-weighted images of MRI revealed a high signal lesion in the paramedian pontine tegmentum without enhancement. He underwent steroid pulse therapy, followed by mild improvement in adduction of both eyes. Although WEBINO tends to be observed in the acute stage of stroke, this patient suggests that demyelinative lesions of MS can cause persistent WEBINO, involving the paramedian pontine tegmentum.

Primitive reflexes distinguish vascular parkinsonism from Parkinson's disease.

OBJECTIVES: Although vascular parkinsonism (VP) occurs frequently in the elderly, its clinical features have not been investigated in detail, particularly in comparison with Parkinson's disease (PD). The goal of this study is to clarify the diagnostic value of pathological reflexes in differentiating between VP and PD. PATIENTS AND METHODS: In 132 patients with PD and 55 with VP, pathological reflexes, including snout reflex (SR), palmomental reflex (PMR), corneomandibular reflex (CMR), jaw reflex (JR), Hoffmann reflex (HR), and extensor plantar response (EPR), were evaluated. RESULTS: The percentage of each pathological reflex elicited in two groups (VP:PD) was as follows: SR (78:30), PMR (53:26), CMR (9:6), JR (33:12), HR (29:11), and EPR (25:8). The prevalence of pathological reflexes, except for CMR, was significantly higher in the VP patients than in the PD patients. In particular, SR and PMR were more frequent than upper motor neuron signs in the VP patients. The sensitivity and specificity of either SR or PMR for VP were 84% and 82%. CONCLUSION: Snout and palmomental reflexes are useful tools in the differentiation between VP and PD.

[Case of Hashimoto's encephalopathy with diffuse white matter lesions on diffusion-weighted MRI].

A 65-year-old woman was admitted to our hospital because of subacute deterioration of cognitive function. On admission, she presented with marked disorientation of time and place and inability to carry out commands. Mini-Mental State Examination score was 5/30. Although routine laboratory examinations including thyroid function, vitamin B1 and B12, serum syphilitic reaction, sIL-2 receptor level, titers of herpes simplex and zoster viruses, and HIV antibody were normal, titers of anti-thyroglobulin (TG) antibodies and thyroid peroxidase (TPO) antibodies were elevated. Cerebrospinal fluid showed normal findings. Brain MRI revealed diffuse high intensity in the white matter on diffusion- and T2-weighted images, mimicking leukoencephalopathy. We made a diagnosis of Hashimoto's encephalopathy, based on clinical features and high titers of anti-thyroid antibodies. Following administration of steroid hormone, her cognitive impairment gradually improved, associated with decrease of the white matter abnormality on MRI. Hashimoto's encephalopathy should be kept in mind in the differential diagnosis of subacute leukoencephalopathy with cognitive decline.

[A case of high-aged idiopathic spinal cord herniation from dural defect].

Idiopathic spinal cord herniation was assumed to be a rare disease. However, the incidence of discovering this condition appears to have been increasing recently with advances in neuroradiological diagnosis using magnetic resonance imaging (MRI) and computed tomographic myelogram (CTM). We present herein an operated case of high-aged idiopathic spinal cord herniation. A 71-year-old female presented with spastic paresis of the right lower limb and sensory disturbance of pain and temperature below the level of the left Th4 dermatome, consistent with Brown-Séquard syndrome. MRI and CTM revealed right ventral displacement of the spinal cord and dilatation of the dorsal subarachnoid space at Th2/3. Laminectomy of Th1-3 was performed, herniated spinal cord was untethered and repositioned, and the dural defect was sealed with GORE-TEX dura substitute. Postoperative MRI revealed normal location of the spinal cord and neurological state improved slightly. The patient was discharged 1 month after the operation. Among many cases of spinal cord herniations, this is considered to be a rare case of idiopathic spinal cord herniation in an elderly patient.

Vaccine-associated paralytic poliomyelitis caused by contact infection.

We encountered an adult patient with acute anterior poliomyelitis (AAP), whose monoparesis developed 28 days after his son's immunization with oral poliovirus vaccine (OPV). Neurological and electrophysiological examinations suggested that his muscular wasting of the left lower limb was due to a lower motor neuron disorder, and magnetic resonance imaging revealed the responsible lesion in the left anterior horn at the thoracolumbar junction. His stool was found to include poliovirus type 3, mainly originating from Sabin 3 by neutrization antibody and PCR-restriction fragment length polymorphism method. This indicated that the AAP resulted from contact with his son. This patient raises the question about OPV in polio-free countries.

[A clinicoanatomical study of thalamic cheiro-oral syndrome].

We report 6 patients with Cheiro-oral syndrome (COS), with special reference to clinical features and responsible lesions. The time intervals from the onset of symptoms to arrival in our department were less than 24 hours in 3 patients, 2 days in 2, and 5 days in 1. All patients had subjective sensory disturbance involving the unilateral hand and ipsilateral perioral regions, and 4 patients presented with objective sensory disturbance. The body parts of tingling sensation tended to be larger than those of superficial sensory disturbance. Three patients developed motor disturbance including hemiparesis with or without ataxia, clumsiness of fine finger movements, and dysarthria. Magnetic resonance imaging revealed fresh infarctions around the thalamus, including lacunar infarctions in 5 patients and branch atheromatous disease in 1 patient. The lesion sites responsible for COS were ventral posterolateral (VPL) and ventral posteromedial (VPM) nuclei in the thalamus in 4 patients, thalamic pulvinar nucleus and medial geniculate body in 1, thalamic ventroposterior region-internal capsule-corona radiata in 1. Three patients had asymptomatic brain infarctions. Risk factors were hyperlipidemia, hypertension, diabetes mellitus, smoking, arteriosclerosis of the carotid artery, and polycythemia. In the convalescent stage, 5 patients suffered from residual sensory-motor disturbance, whereas 1 patient recovered from COS. COS has been attributed mainly to small infarctions in the thalamic ventroposterior nuclei. However, it is suggested that damage to ascending sensory fibers projecting to the thalamic VPL and VPM nuclei can cause COS. Because initial symptoms of COS are apt to be overlooked, early diagnosis and treatment are necessary to avoid residual sensory-motor disturbance.