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[A case of pseudomigraine with pleocytosis].

We report a case of pseudomigraine with pleocytosis (PMP) characterized by temporary neurological deficits and elevated cell counts in cerebrospinal fluid (CSF). A 28-year-old woman was admitted to our hospital with a second episode of right side throbbing headache accompanied by hemianopsia without scintillating scotoma of left side, hand numbness and weakness of left hand. Two months before the admission, she experienced a first identical episode, which lasted several hours. On admission to our hospital, neurological examination showed left hemianopsia, mild left hemiparesis, dysesthesia of left hand, exceeded tendon reflex of left upper limb, stiff-neck and positive Kerning's sign. CSF examination showed mild elevation of mononuclear cell counts. No abnormal findings on brain CT and MRI (including diffusion weighted image) were observed. 99mTc-HMPAO single photon emission computed tomography (SPECT) demonstrated extensive hypoperfusion at right cerebral hemisphere, corresponding to her neurological deficits. Her electroencephalography (EEG) showed reduced amplitude on the right occipital area. The reduced amplitude of cortical component of somatosensory evoked potential (SEP) by left median nerve stimulation were observed. On the third day after the admission, her symptoms improved and cell count of CSF was normalized. One week after the onset her SEP, EEG and SPECT were normalized on their retrials. She has never recurred these symptoms. We established a diagnosed of psedomigraine with pleocytosis as the first Japanese case.

Adult↗

[A case of Sotos syndrome associated with peripheral nerve involvements].

A case of the Sotos syndrome associated with peripheral nerve involvements was reported. A 52-year-old male was admitted to Kawasaki Medical School Hospital because of gait disturbance, muscle atrophy, and weakness in both hands. This case was diagnosed as the Sotos syndrome based on the following symptoms and findings, acromegaloid features, hypertrophic changes in the hands and feet, a history of epileptic episodes, a low IQ, a normal growth hormone value, and no tumor lesion in the pituitary gland. Radiological examination disclosed a cauliflower-like appearance of the finger tips and thickness of the heel pads. Brain CT and MRI revealed diffuse mild brain atrophy. An electroencephalogram showed diffuse theta waves with sharp waves in the right parietal region. A needle electromyogram revealed neurogenic change in both upper and lower limbs. A nerve conduction study disclosed the carpal tunnel syndrome and cubital tunnel syndrome. These findings suggest that, as in the case of acromegaly, entrapment neuropathy and peripheral neuropathy can also be induced in the Sotos syndrome.

Brain Diseases↗

[Successful early-stage corticosteroid treatment in a case of granulomatous angiitis of the central nervous system].

A 74-year-old woman presented with progressive mental deterioration following a low-grade fever and headache. Upon admission, she appeared lethargic, could not obey simple commands and was disoriented to time, place and person. She had low-grade fever and mild neck stiffness. The cerebrospinal fluid had an elevated protein content of 496 mg/dl, contrast-enhanced MRI revealed diffuse leptomeningeal enhancement, particularly in the occipital area, and a cerebral angiogram showed diffuse segmental narrowing of multiple intracranial arteries, especially in the distal portion of the right middle cerebral artery. A clinical diagnosis of granulomatous angiitis of the central nervous systems (GANS) was made, and corticosteroid therapy was initiated. The patient improved gradually, and corticosteroid therapy was tapered to the maintenance dose (prednisolone 0.4 mg/kg daily). An open brain biopsy showed multiple vessels containing granulomatous inflammation with giant cells. GANS is one of the most challenging neurologic disorders to diagnose because of its relative rarity and the lack of specificity of clinical signs and efficient, non-invasive, diagnostic tests. In this case, we were able to begin corticosteroid therapy in the early stage of the disease (before brain biopsy), and it yielded a good outcome.

Aged↗

[Traumatic dissection of the internal carotid artery: malignant supratentorial infarction and decompressive treatment].

We present a case report of a thirty-six-year-old right-handed female. She suffered with a malignant space-occupying supratentorial ischemic stroke caused by a traumatic cervical internal carotid artery dissection. She had a car accident and, initially, presented with a normal examination. In two days, she became comatose (Glasgow Coma Scale score was 5) with complete left hemiplegia, right mydriasis and required respiratory assistance despite the medical treatment. It was decided to perform a large right frontotemporoparietal bone flap with large dural plasty. Eighteen months later, with intensive rehabilitation, the results of neuropsychological testing were normal, and the Barthel Index score was 90. The indications for decompressive surgery in malignant space-occupying supratentorial ischemic stroke remains controversial. The age, general condition, neurological examination (consciousness, pupils, deficit), extent of parenchymal hypodensity and attenuated corticomedullary contrast on the brain CT, degree of midline shift, presence of uncal hernation, disparition of the visibility of the mesencephalic cisterns and third ventricle, high level of the intracranial pressure, and perhaps the results of the perfusion-and diffusion-weighted MRI, are the elements to decide (or not decide) decompressive surgery.

Accidents, Traffic↗

[A case of multiple cerebral infarction accompanied by a cor triatriatum].

A cor triatriatum is a congenital malformation of the heart which, in almost all cases, is diagnosed in childhood, whereas adult cases are very rare. The hemodynamics of the cor triatriatum is similar to that of mitral stenosis, which sometimes, but rarely, causes embolism. We present a case of multiple cerebral infarctions accompanied with a cor triatriatum. A 57-year-old female suddenly displayed impaired consciousness and hemiparesis immediately after cranioplasty for another disease, and was diagnosed by a diffusion weighted MRI as having multiple infarctions. A transesophageal echocardiography detected a membrane-like, echo-dense structure across the left atrium, suggesting a cor triatriatum. We suspect that her multiple infarctions were caused by embolism due to a cor triatriatum. Here, we discuss the relationship between her embolic stroke and the cor triatriatum, with references to literature on the subject.

Cerebral Infarction↗

Childhood ataxia with cerebral hypomyelination (CACH) syndrome: a study of three siblings.

We report a family of three siblings with Childhood Ataxia with Cerebral Hypomyelination. All the siblings presented with early onset cerebellar ataxia beginning around five years of age with mild mental retardation. MRI showed diffuse white matter signal changes in all three patients with cerebellar atrophy while the spectroscopy was abnormal only in the eldest who was the most severely affected. The cases are reported for their rarity as well as for an opportunity of observing this uncommon disease in its stages of evolution in three siblings.

Activities of Daily Living↗

[Differential diagnosis of acute ischemic stroke and management on the basis of acute ischemic stroke subtype].

Recent advances in neuro-imaging technology assist early clinical diagnosis for ischemic stroke subtype. The precise early diagnosis for stroke subtype plays an important role for the management in patients with acute cerebral infarction. The differential diagnosis is made according to the algorithm in the modified the Trial of Org 10172 in Acute Stroke Treatment (TOAST) classification, with reference to the results of diffusion-weighted MRI and MRA. Artery-to-artery embolism and branch atheromatus disease are diagnosed as atherothrombotic infarction according to this algorithm. Thrombolytic therapy is recommended in cardioembolic stroke within 3 hours after onset. The anticoagulant therapy with heparin is often used to prevent the recurrence for thrombosis in acute cardioemboic infarction. The selective thrombin inhibitor has recently been used in the treatment of acute atherothrombotic infarction. The antiplatelet therapy with aspirin is recommended in acute atherothrombotic infarction and lacunar infarction. The sodium ozagrel is recommended in the treatment of acute lacunar infarction. The treatment of acute ischemic stroke should be managed according to Japanese Guidelines for the management of stroke (2004).

Acute Disease↗

[Diagnosis of adult type of Niemann-Pick disease (type C) in two brothers by filipin staining of bone marrow smears].

Niemann-Pick disease, type C (NPC) is a neurometabolic genetic disorder that is distinguished from other types of Niemann-Pick disease by its later onset, more insidious progression, variable visceromegaly, and abnormalities of intracellular cholesterol metabolism. We report cases in 18-year-old and 20-year-old brothers who presented with disinhibition and involuntary movement of their hands. Both brothers presented various signs such as dementia, vertical supranuclear ophthalmoplegia (VSO), dysarthria, axial and limb dystonia, hyperreflexia, pathologic reflex, cerebellar ataxia, as reported. They also presented startle response. Brain MRI showed diffuse cerebral atrophy and abdominal CT reveals hepato-splenomegaly in both patients. These cases were suspected to be NPC based on dementia, VSO, cerebellar ataxia, hepato-splenomegaly and foam cells in the bone marrow. Generally, the diagnosis of NPC is based on deficient cholesterol esterification and excessive lysosomal filipin staining in cultured skin fibroblasts. However, culture of fibroblasts obtained from a biopsied skin samples is slow. We have rapidly made the diagnosis of NPC in our patients by filipin staining of foam cells from bone marrow. This diagnostic process using a bone marrow smear is more convenient and rapid than previous methods using cultured skin fibroblasts.

Adolescent↗

[A case of encephalitis-type encephalopathy related to Pleurocybella porrigens (Sugihiratake)].

A 65-year-old man who had been on hemodialysis for chronic renal failure was well until 7 days after ingestion of Pleurocybella porrigens (Sugihiratake) when he developed a loss of consciousness and status epilepticus of generalized tonic and clonic seizures. High fever and high CRP were followed and cerebrospinal fluids showed marked pleocytosis with polynuclear cell predominance. Brain MRI showed diffuse lesions in the basal ganglia and multiple ringed lesions in cerebral cortex. Glucocorticoid therapy was effective for clinical improvement. This case showed the presence of encephalitis-type of encephalopathy related to Pleurocybella porrigens (Sugihiratake).

Aged↗

[A case of motor disturbance in upper limb by parietal lesion; limb kinetic apraxia without visual compensation?].

We report a 75-year-old right-handed man who showed limbkinetic apraxia in the left hand caused by brain infarction of the right parietal lobe including postcentral gyrus. The hand shaping and posture preceding grasping was not appropriate, and clumsiness of the hand was not corrected by visual guidance. Fiber-tracking of the sensorimotor tract on diffusion tensor MRI and electrophysiological studies revealed that the lesion involved the area 1, 2, 5, and 7 of the cortices in Brodmann's nomenclature. In the most cases with limbkinetic apraxia caused by posterior lesion in the center region, hand clumsiness in manipulation should be corrected by visual guidance, which did not function in this case due to coexisting disturbances of kinesthesia with relatively large lesion in the parietal cortex.

Aged↗

[A 60-year-old man with intention tremor as an initial symptom followed by cerebellar ataxia, peripheral neuropathy and dementia].

We report a 60-year-old man with a 6-year history of tremor in his hands. He noted the onset of short of breath and gait disturbance in 1994; both of these symptoms were slowly progressive. Then recently he developed fever two months prior to the present admission. He was admitted to the rheumatology department of our hospital and neurological consultation was asked on December 13, 2000. On neurologic examination, he showed Gottron sign and fine crackle in both lungs. Pertinent neurological findings were bilateral dysmetria in finger-to-nose and heel-to-knee tests and a broad-based gait. In addition, he showed intention tremor in upper extremities more on the left. Romberg sign was positive. Deep tendon reflexes were decreased. Vibratory sensation was reduced at the wrists. The patient's hemoglobin was 11.1 g/dl, with a mean corpuscular volume of 92.0 fl. Vitamin B12 level was 190 (reference range, >230 pg/ml). Serum lactic acid, pyruvic acid and ceruloplasmin were slightly elevated. Chest X-ray showed interstitial pneumonia. Muscle biopsy showed grouping of small angular fiber. Brain MRI showed diffuse atrophy of the cerebral cortex and the cerebellum hemisphere. Thalamotomy did not improve his tremor. He was admitted again in November 2001. General worsening of his neurological findings was observed. IL2-receptor was markedly elevated. Serum anti-Hu, Yo and Ri antibodies were negative. An anaplastic carcinoma was found in his jejunum. He died from respiratory failure in February 2002. He was discussed in a neurological CPC and the chief discussant arrived at a conclusion that the patient had paraneoplastic syndrome. Other diagnosis entertained included MERRF, GSS, Ramsay Hunt syndrome, subacute combined degeneration, spinocerebellar degeneration. Majority of the participants thought that paraneoplastic syndrome was most likely. Post-mortem examination revealed poorly differentiated carcinoma in the small intestine. Myeline pallor was noted in the posterior and the lateral columns in the thoracic spine. Neuronal cell loss was observed in the Purkinje cell and granular cell layer in the cerebellum. Sural nerve demonstrated loss of myelinated fibers and grouping of small fibers. Neuropathological findings were consistent with Friedreich ataxia; nevertheless, no mutation was reported in frataxin in Japan. The neuropathologist concluded that neuropathological diagnosis was a spinocerebellar ataxia with neuropathological similarities to Friedreich ataxia.

Aged↗

[Fulminating midbrain irradiation injury of pediatric brain tumor].

We report two children with post radiation midbrain damage causing severe neurological symptoms. A twelve-year-old boy with a four year history of hydrocephalus was diagnosed with tectal glioma, which endoscopic biopsy revealed to be low grade. He underwent gamma knife radiation surgery (central 24 Gy/peripheral 12 Gy). Two months later bilateral ptosis followed by total oculomotor palsy and drowsiness developed. Despite pulsed-steroid therapy the tumor size increased up to 4.6 times in volume. The tumor was totally removed and was diagnosed as an early delayed radiation reaction pathologically. His symptoms disappeared except for a slight upper gaze palsy. The second patient was a six-year-old girl with a medulloblastoma. Following total resection and a VP shunt she received conventional radiation therapy along with chemotherapy. After the final irradiation she became comatose (JCS II-2) and MRI revealed diffuse midbrain damage with acute aqueduct obstruction, which recovered in two weeks. Reports of irradiation injuries of the midbrain in childhood are rare but it should be considered as a possible cause of fulminant symptoms requiring emergency treatment. Because of midbrain anatomical complexity, midbrain radiation therapy requires great care, especially in children.

Brain Neoplasms↗

[Regulation of water transport in brain oedema].

The study gives an overview on the regulation of cerebral water content and of brain volume. The molecular mechanisms of the development and resolution of various oedema forms are discussed in detail. The physiological and pathophysiological role of the recently discovered molecular water channel proteins aquaporin-1 (AQP1) and aquaporin-4 (AQP4) as well as the importance of central neuroendocrine regulation by vasopressin and atriopeptin are reviewed based on the relevant literature and personal studies. Quantitative water maps based on the combination of multicompartment-T2, diffusion weighted MRI and T1 studies have proven to be powerful tools for studying new drugs against brain oedema brought about by various neuropathological conditions and for testing their efficacy both in animal experimental and clinical conditions. Non-peptide vasopressin antagonists, atriopeptin agonists and drugs targeting AQP4 are potential new families of oedema-decreasing drugs.

Animals↗

Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases.

Leukoencephalopathy with vanishing white matter (VWM), also called childhood ataxia with central nervous system hypomyelination (CACH), is an autosomal recessive disease caused by mutations in any of the five genes encoding subunits of the eukaryotic translation initiation factor eIF2B. Neuropathological findings comprise a severe, cavitating orthochromatic leukodystrophy with only small amounts of myelin breakdown products, and predominantly involving the cerebral hemispheric white matter. Within the white matter abnormal oligodendroglial cells are present with abundant "foamy" cytoplasm. In some regions oligodendroglial cells are increased in numbers. We present three sisters, 18, 11 and 8 years old, with the early to late childhood phenotype. The first signs of the disease were gait disturbances at 4, 2 and 6 years of age, respectively. Neurological examination showed mild tremor of hands and head, truncal ataxia, dysarthria, and hypotonia, after several years followed by spasticity. The course of the disease was slowly progressive. Intellectual abilities are relatively spared. The MRI showed diffusely abnormal white matter of the cerebral hemispheres. The FLAIR images revealed rarefaction of the affected white matter with some stripe-like structures, suggesting the presence of remaining tissue strands. The abnormalities were most pronounced with the middle sister, who had the earliest onset of the disease. A homozygous point mutation in the EIF2B2 gene was found, 638A>G. Both the parents were found to be carriers of this mutation. This is the first description of a Polish family with VWM.

Adolescent↗

[Neuronal injury in multiple sclerosis].

The concept of multiple sclerosis (MS) as a demyelinating disease is deeply ingrained. Although the existence of a neurodegenerative component has always been apparent, it has only recently become emphasized. Thus, in recent years several studies have identified axonal degeneration as the major determinant of irreversible neurological disability in patients with MS. Axonal injury begins at disease onset and remains clinically silent for many years; irreversible neurological disability develops when a threshold of axonal loss is reached and CNS compensatory mechanisms are exhausted. The precise mechanisms of axonal loss are poorly understood, and three hypotheses have been proposed: 1) The damage is caused by an inflammatory process, 2) There is an excessive accumulation of intra-axonal Ca2+, 3) Demyelinated axons undergo degeneration due to lack of trophic support by myelin, or myelin forming cells. Although MS has traditionally been regarded as a disease of white matter, demyelination can also occur in the cerebral cortex. Cortical lesions exhibit neuronal injury represented by dendritic and axonal transection as well as neuronal apoptosis. Because conventional nuclear magnetic resonance (NMR) is limited in its ability to provide specific information about axonal pathology in MS, new techniques such as, diffusion-weighted MRI, proton magnetic resonance spectroscopy, functional MRI, as well as novel techniques designed to measure atrophy have been developed to monitor MS evolution. Recognition that MS is in part a neurodegenerative disease should trigger critical rethinking on the pathogenic mechanisms of this disease and provides new targets for a rational treatment.

Apoptosis↗

[Magnetic resonance imaging of fluorosis and stress fractures due to fluoride].

Osteocondensation of the spine and stress fractures of the appendicular bones are observed under treatment with sodium fluoride or after long-term drinking of Vichy Saint-Yorre spring water. Five patients with a mean total dose of fluoride intake of 24.7 g (9-66) were studied with MR imaging. Two of them had a diffuse osteocondensation; MRI showed a low signal intensity in the vertebrae on T1 and T2-weighted images. MRI was performed in an asymptomatic patient who was being treated with sodium fluoride for 16 months; it revealed a heterogenous low signal intensity in the pelvis and femoral metaphysis. Two patients experienced stress fractures; MRI demonstrated a linear area of very low signal intensity surrounded by an area of decreased signal intensity on T1-weighted images and high signal intensity on T2-weighted images. MRI of fluorosis shows a non specific low signal intensity linked to a densifying image on the standard radiograph or an area of high technetium-99m intake on bone scan.

Aged↗

[Inflammatory granulomas extending from the sphenoid sinus to the cavernous sinus: report of three cases].

We treated three cases of inflammatory granulomas extending from the sphenoid sinus to the cavernous sinus. Case 1 was that of a 36-year-old male with diplopia and right ptosis. Case 2 was that of a 40-year-old male with frontal headache. Case 3 was that of a 70-year-old female with left impaired vision and frontal headache. In the first case, MRI demonstrated a mass lesion extending from the right half of the sphenoid sinus to the cavernous sinus and retropharyngeal space. In the second case the granuloma extended from the right cavernous sinus to the right retroorbital space. In the last case, MRI demonstrated diffuse Gd-DTPA enhancement of the left cavernous sinus and the left half of the sphenoid sinus. In all cases an operation was performed using the sublabial rhinoseptal approach, and the tumor in the sphenoid sinus was removed. Histological examination revealed an inflammatory granuloma in all 3 cases. In the first case the clinical symptoms improved following administration of glucocorticoids. In the second case the mass in the cavernous sinus decreased in size postoperatively. In the last case, the clinical symptoms gradually improved with administration of antibiotics after surgery. Granuloma of the cavernous sinus is difficult to diagnose, but when a similar pathological lesion coexists in the sphenoid sinus, a definitive diagnosis can be easily made via the sublabial rhinoseptal approach.

Adult↗

[A case of HTLV-1 associated myelopathy progressed in course over 30 years].

A 66-year-old female suffering from HTLV-1 associated myelopathy (HAM) for more than 30 years was hospitalized because of memorial impairment, deafness, dysarthria, dysphagia, and complete paraplegia. She first noticed stiffness and weakness of the right leg at 35 years of age. Gait disturbance was slowly progressed and complete paraplegia developed 18 years later. Neurological examinations on admission revealed that she was bedridden with decubitus, mental deterioration (pre-dementia of subcortical type), bilateral optic nerve atrophy, severe sensory-neural deafness, dysarthria, complete paraplegia, and marked neurogenic bladder. Laboratory data showed mild normocytic anemia and moderate diabetes mellitus. Anti-HTLV-1 antibody titers in serum and CSF were 78,192X and 1,024X, respectively (PA method). Serum levels of soluble IL-2 receptor was markedly elevated (2,200 U/ml). Peripheral blood lymphocytes showed spontaneous proliferation when cultured for 5 days (3H-thymidine uptake; 45,285 cpm/5 X 10(4) cells). MRI examinations of the spinal cord disclosed a predominant atrophy of lower thoracic cord without any compressive lesions. Brain MRI showed diffuse high intensity lesions of the periventricular area on T2 weighted images. Such abnormalities were predominantly found in fronto-parietal region and were quite similar to those of leuko-ariosis. Single photon emission CT using 123I-iodoamphetamine showed hypoperfusion of cerebral white matter on delayed image. It has been reported that intellectual impairment and brain atrophy are not usually seen in HAM patients. The present case, however, shows that such abnormalities of the central nervous system could occur in HAM patients with a long duration of illness.

Aged↗