A Case of Partial D Type VI-3 Confirmed by RHD Genotyping

Weak D and partial D result in quantitative and qualitative changes in RhD protein expression respectively. It is difficult to discriminate weak D from partial D by serological tests alone. RHD genotyping is a useful method that complements serological results. A 64-year-old woman visited our hospital for microvascular decompression surgery. Her blood type was O, D negative by manual tube test and as per auto analyzer results (QWALYS-3 system; DIAGAST, France). Weak D and partial D tests were performed by using two different monoclonal anti-D reagents (Bioscot; Merck Millipore, UK; Bioclone; Ortho Clinical Diagnostics, USA) and a panel of nine monoclonal antibodies, including anti-D IgM and IgG (D-Screen; DIAGAST, France). However, these serological tests could not confirm the subtype of partial D. Therefore, sequencing of RHD exon 1 to 10 was additionally performed for the patient and the case was revealed to be partial DVI type 3.

A Case of Partial D Type VI-3 Confirmed by RHD Genotyping

Weak D and partial D result in quantitative and qualitative changes in RhD protein expression respectively. It is difficult to discriminate weak D from partial D by serological tests alone. RHD genotyping is a useful method that complements serological results. A 64-year-old woman visited our hospital for microvascular decompression surgery. Her blood type was O, D negative by manual tube test and as per auto analyzer results (QWALYS-3 system; DIAGAST, France). Weak D and partial D tests were performed by using two different monoclonal anti-D reagents (Bioscot; Merck Millipore, UK; Bioclone; Ortho Clinical Diagnostics, USA) and a panel of nine monoclonal antibodies, including anti-D IgM and IgG (D-Screen; DIAGAST, France). However, these serological tests could not confirm the subtype of partial D. Therefore, sequencing of RHD exon 1 to 10 was additionally performed for the patient and the case was revealed to be partial DVI type 3.

Contingent Negative Variation of Pre- and Post-Hemodialysis in Patient with End Stage Renal Disease

BACKGROUND: The contingent negative variation (CNV) reflects neuronal activities related to sensorimotor integration and motor planning or execution and is probably originated from the frontal-subcortical circuit. The aim of this study is to investigate the neurophysiologic changes in uremia and the effect of hemodialysis to them by utilizing the CNV test. METHODS: Fifteen right-handed healthy subjects and 12 patients with end stage renal disease (ESRD) were studied. CNV was recorded from Fz, Cz, and Pz referenced to linked ear lobes by using an S1 (click)-S2 (flashes)-key press paradigm. The amplitude of initial CNV (iCNV) was calculated as the average amplitude of 550~750 msec after S1. The amplitude of late CNV (lCNV) was calculated as the average amplitude between 200 msec before S1 and S2. The test was repeated for the patients group at the time of pre- and post-hemodialysis. Neuropsychological measurements, the trail making test (TMT) and mini-mental state score (MMSE), were conducted at the time of each test. RESULTS: Both the mean amplitudes of iCNV and lCNV at the vertex (Cz) were significantly lower in the patient group than those in the control group (p<0.05). The MMSE score and TMT were also significantly different between the patient and control group (p<0.05). There was no significant correlation between the values of neuropsychological tests and the parameters of CNV. Both iCNV and lCNV were not significantly different between the pre- and post-dialysis test. CONCLUSIONS: It appears that CNV negativity in uremia reflects dysfunctions in the frontal-subcortical circuit. In addition, hemodialysis seems to have no significant effect on it in patients with ESRD.

Activation of Mitogen-Activated Protein Kinases in the Rat Dorsal Root Ganglia Following Peripheral Tissue Inflammation or Nerve Injuries / 대한해부학회지

The mitogen-activated protein kinase (MAPK) family has three members: the extracellular signal-regulated kinase (ERK), p38 MAPK and c-Jun N-terminal kinase (JNK). There is substantial evidence indicating that the MAPK cascade plays a pivotal role in transducing extracellular stimuli into intracellular responses in all cells. The ERK is activated in response to growth factors, oxidative stress, increases in intracellular calcium levels, or glutamate receptor stimulation. The p38 MAPK and JNK are activated by stress signals such as inflammtory cytokines, heat shock, ultraviolet light, and ischemia. It has been shown that cytokines, growth factors, or other agents released and are retrograde-transported to the dorsal root ganglia (DRG) as a result of peripheral tissue inflammation or the degeneration of axons following peripheral nerve injuries which cause hyperalgesia. In the present study, we investigated the activation of MAPKs in rat DRG by means of immunohistochemistry following peripheral inflammation or nerve injuries. The results obtained were as follows; 1. Peripheral tissue inflammation induced significant increase in the percentage of phosphorylated (P)-ERK, P-p38 or P-JNK immunoreactive neurons in the ipsilateral L5 DRG. 2. Following axotomy, the percentage of P-ERK or P-p38 MAPK immunoreactive neurons decreased significantly and that of P-JNK showed significant increase in the ipsilateral side. 3. Chronic constriction injury of the sciatic nerve (CCI) induced similar changes with those following peripheral inflammation in the activation of MAPKs in the DRG neurons. 4. The activation of ERK, p38 MAPK and JNK following inflammation and CCI was observed primarily in small neurons, while that of JNK following axotomy was found in neurons of all sizes. These results suggest that cytokines or growth factors released as a result of peripheral inflammation or CCI of the sciatic nerve may modulate expression of P-ERK, P-p38 MAPK and P-JNK in the DRG and that MAPKs may play an important roles in pain hypersensitivity.

A Case of Recurrent Tolosa-Hunt Syndrome

Tolosa-Hunt syndrome (THS) is a clinical syndrome of painful ophthalmoplegia associated with an idiopathic inflammation in the superior orbital fissure or cavernous sinus. We report a 61-year-old woman with recurrent THS. She had been treated with steroids for the painful ophthalmoplegia. After a symptom-free period, she developed similar symptoms. The postcontrast brain MRI showed increased signal in the cavernous sinus, which was also seen in the previous MRI.

A Case of Kennedy Syndrome Mimicking Myasthenia Gravis

Patients with Kennedy syndrome, which progresses more slowly than amyotrophic lateral sclerosis show a mild degree of motor fluctuation but rarely show significant decremental responses to repetitive nerve stimulations. Even in a patient with decremental responses to repetitive nerve stimulations, there is usually no significant improvements in motor symptoms to anticholinesterases. We experienced a patient with Kennedy syndrome, who showed significant decremental responses to repetitive nerve stimulations and a marked degree of motor fluctuation. His motor fluctuation responded dramatically to anticholinesterase. (J Korean Neurol Assoc 19(5):544~546, 2001)

A Case of Posterior Spinal Artery Infarction after Cervical Trauma

Clinically, the infarction of posterior spinal arteries is rarely recognized due to rich anastomosis. As a result, there have been few clinical reports of posterior spinal artery infarction. A 38-year-old man experienced severe transitory neck and occipital pain after his friend had struck him on the cervical area. A few days later, he developed dysmetria, dysdiadochokinesia, and decreased vibration and position senses on the right side of his body. Routine laboratory find-ings, an echocardiogram, a work-up for connective tissue diseases, and CSF studies were all found to be normal. A MRI showed increased signals in the right posterior and posterolateral part of the lower medulla and some portion of the first cervical cord on T2- and proton-weighted images without significant enhancements. A cerebral angiogram showed a long narrow thread-like segment in the distal portion of the right vertebral artery, which was indicative of a dissection. The right posterior inferior cerebellar artery was not visualized.

Cerebral Infarction Associated with Marijuana

Whereas stroke that is associated with the use of various street drugs has been frequently noted, cerebral infarction related to marijuana has been rarely reported. We experienced a 36 year-old male who developed sudden onset of dizziness and gait disturbance after marijuana smoking. On admission, neurological examination revealed right cerebellar dysfunction with prominent falling tendency to right side during tandem gait. Brain MRI showed high signal intensity on T2-weighted image on right posterior inferior cerebellar arterial (PICA) territory suggesting acute infarction. He had no risk factors for stroke except tobacco smoking and denied the use of other street drugs. Serologic work-up for coagulopathy and cardiologic evaluation were unremarkable. On cerebral angiogram, narrowing of proximal part of left PICA and diffusely spastic arterial changes of whole posterior circulation were revealed. On the basis of the physiologic effect of marijuana, we could infer that the probable mechanism of the stroke was intracerebral vasoconstriction or hemodymic change.

A Case of Myelopathy due to Spinal Dural Arteriovenous Fistula Supplied by Branches of the Internal Iliac Arteries

Spinal dural arteriovenous fistulas are rare abnormal connections of artery and vein within the dura, at the level of the intervertebral foramen. A 57-year-old male developed weakness in both lower extremities and sphincteric dysfunction, which had stepwisely, progressive and fluctuating course since 6 months ago. He showed areflexia in both ankle & right knee. T-spine MRI showed high signal intensity with ill defined margin in T2WI and intensely enhanced by con-trast agent through lower thoracic and lumbosacral spinal cord. Selective spinal angiography revealed a dural arteriove-nous fistula with a nidus at thoracolumbar vertebral level, supplied by the internal iliac artery and enlarged medullary veins. Superselective angiographic embolization was done. Clinically, his symptoms has been ameliorated. We report a rare case of thoracic myelopathy due to spinal dural arteriovenous fistulas exclusively supplied by the branches of internal iliac artery.

MCA Territorial Infarction With Iron Deficiency Anemia and Thrombocytosis

BACKGROUND: As a complication of iron deficiency anemia, only a few cases of the infarction involving major cerebral artery territory area have been reported. Although the reactive thrombocytosis secondary to iron-deficiency anemia may be suggested as a cause, the exact mechanism is unclear. Until now, the sole possible level of thrombocytosis associated with iron deficiency anemia for cerebrovascular accident has been reported as more than 8.0 x 105/mm3. Case Description : We present a case of young woman with mild reactive thrombocytosis(5.95 x 105/mm3) secondary to iron deficiency anemia who developed left middle cerebral artery territorial infarction. We did not find any other precipitating factors despite of all possible etiological evaluations including cerebral angiography. After the treatment of iron supplement and antiplatelet agent, the recovery was relatively good and no definite neurological deficits were remained. CONCLUSION: We suggest that this large territorial infarction might be related to the severe iron deficiency anemia and the reactive thrombocytosis associated with iron deficiency anemia and the correction of anemia and antiplatelet therapy is a reasonable approach.

Brainstem Infarction Following Snake Bite

Bleeding complications of central nervous system following snake bite are well known. However, nonhemorrhagic manifestations such as ischemic stroke are extremely rare. As far as we know, only four such instances involving middle cerebral artery territory have ever been reported in the literature up to now. A 53-year-old farmer noted right side motor weakness and severe dysarthria 3 hours after a snake bite on right middle finger. Magnetic resonance T2WI showed high signal intensity on left pontine region extending to basal surface and bilateral tegmentum of the pons. He had neither atherogenic risk factors nor cardiogenic embolic sources. Laboratory findings were within normal limits except for mild consumptive coagulopathy. Cerebral angiogram revealed abrupt occlusion of proximal basilar artery. We report a case of brainstem infarction caused by a Korean viper (Agkistrodon blomhoffii brevicaudus) bite and discuss possible mechanisms for cerebral infarction.

Unilateral isolated trochlear nerve palsy due to bilateral dural carotid-cavernous sinus fistulas

Pulsating exophthalmos, bruit, episcleral venous distention, conjunctival and (eye)lid edema, ophthalmoplegia, and ocular pain have long been regarded as the classic symptoms and signs of idiopathic dural carotid cavernous sinus fistula(CCF). We experienced a 39-year-old woman who presented with headache and cyclovertical diplopia. On neurologic examination, we found isolated left trochlear nerve palsy only. The past medical history was not remarkable. Intracranial magnetic resonance angiography revealed abnormal signals around the carotid siphon on both sides. Conventional angiography confirmed bilateral dural CCFs, leaking predominantly from the left side. Diplopia and headache had improved spontaneously over 3 weeks after the onset. Occasionally, isolated oculomotor or abducens nerve palsy has been reported as the sole clinical finding of symptomatic dural CCF. But isolated trochlear nerve palsy with dural CCF is extremely rare. Although the exact mechanisms of isolated trochlear nerve palsy by dural CCF is unclear, various mechanisms have been proposed, including compression of trochlear nerve by venous congestion or direct shunted flow in cavernous sinus, vascular steel phenomenon, and venous thrombosis.

Hemichorea-hemiballism with striatal high signal intensity on T1-weighted images in diabetes

Hemichorea-hemiballsim has been reported as a rare Implication of nonketotic hyperglycemia. Recently, Some reports revealed that brain magnetic resonance images of nonketotic hyperglycemic patients with hemichorea-hemiballism showed characteristic contralateral striatal signal abnormality, We present six patients with hemichorea-heniiballism. All of them had diabetes mellitus and performed brain MR images. The MR images of them showed high signal intensity on Tl-weighted images and low signal intensity on T2 weighted images in the striatum contralateal to the involuntary movement. In general, the striatal high signal intensity on TI weighted images are presumed to have developed following hemorrhagic transformation, osmotic myelinolysis, or mild ischemia with reversible deposition of calcium or other material occurred in association with nonketotic hyperglycemia. However the precise mechanism of this signal change is not clear yet and needs pathological confirmation.

Three Cases of Dural Sinus Thrombosis Treated with Direct Thrombolysis Using Tissue Plasminogen Activator(t-PA)

Background and Objective : Dural sinus thrombosis(DST) is a rare disorder with many etiologies and unpredictable clinical courses. The optimal mode of treatment has not been well established. With the advent of neuroradiological intervention, we have successfully performed the direct infusion of t-PA into the venous sinus for the prompt Iysis of thrombosis and subsequent clinical Improvement. METHODS: Three patients, presented with headache, vomiting or focal neurological deficits, were diagnosed as having dural sinus thrombosis by MRI. After the confirmation by angiogram with a superselective transfemoral catheter, a bolus of t-PA was injected into the thrombosed portion of the dural sinuses, followed by a continuous t-PA infusion at a rate of 40mg/hr. Result : All three patients were clinically improved. Follow-up angiogram on the next day demonstrated recanalization of the thromboses venous sinus. Two patients developed non-life threatening extracranial hemorrhage as a complication. Conclusion : Authors suggest that direct thrombolysis with t-PA is a very effective method of treatment in the early phase of DST. Further study is needed to decide the appropriate t-PA dosage to minimize the complication.

A Family of Charcot-Marie-Tooth 1A Confirmed by Molecular Genetic Analysis

Recently, thanks to the development of the molecular genetics which had made us understand the nature of some genetic disorders, the concept of the classification has changed. Charcoal-Marie-Tooth disease (CMT) is the most conspicuous disease. The disease is inherited as an autosomal dominant trait. CMT is classified into two major forms: demyelinating CMT type 1 and axonal CMT type 2. CMT type 1 loci are known to map to chromosome 17 (CMT IA), chromosome 1 (CMT IB), X chromosome (CMT IX), and unknown autosome (CMT IC). And CMT type 2 loci are divided into chromosome 1 (CMT 2A) and chromosome 3 (CMT 2B). The most prevalent form is CMT IA caused by a duplication in a region of chromosome 17p11.2-12. Peripheral myelin protein-22 (PMP-22) gene In that region is known to being responsible for the disease. In Korea, although several families of CMT were reported, there is no report on the subtype of CMT type 1 confirmed by genetic analysis. We report a family of CMT IA confirmed by molecular genetic analysis using D17s122 markers.

A Family of Charcot-Marie-Tooth 1A Confirmed by Molecular Genetic Analysis

Recently, thanks to the development of the molecular genetics which had made us understand the nature of some genetic disorders, the concept of the classification has changed. Charcoal-Marie-Tooth disease (CMT) is the most conspicuous disease. The disease is inherited as an autosomal dominant trait. CMT is classified into two major forms: demyelinating CMT type 1 and axonal CMT type 2. CMT type 1 loci are known to map to chromosome 17 (CMT IA), chromosome 1 (CMT IB), X chromosome (CMT IX), and unknown autosome (CMT IC). And CMT type 2 loci are divided into chromosome 1 (CMT 2A) and chromosome 3 (CMT 2B). The most prevalent form is CMT IA caused by a duplication in a region of chromosome 17p11.2-12. Peripheral myelin protein-22 (PMP-22) gene In that region is known to being responsible for the disease. In Korea, although several families of CMT were reported, there is no report on the subtype of CMT type 1 confirmed by genetic analysis. We report a family of CMT IA confirmed by molecular genetic analysis using D17s122 markers.

Electrophysiological Studies with Inching Method in Carpal Tunnel Syndrome

The nerve conduction study with the inching method has been performed to characterize the nature of lesion (focal of diffuse) within the carpal tunnel and to increase the diagnostic sensibility of the carpal tunnel syndrome (CTS). The sensory nerve conduction velocity of finger-to-palm (F-P) segment of median never or the ratio of sensory nerve conduction velocity of palm-to-wrist (PW) segment to F-P segment of the median nerve (P-W/F-P ratio) was also measured to differentiate the CTS from the early peripheral polyneuropathy, which may only involve the median nerve. Conduction times of the sensory median nerve between the midpalm and the distal forearm in 2cm increments were measured orthodromically in controls (n=32) and CTS patients. The P-W/F-P ratio in control, CTS without diabetes mellitus (DM) (n=23), CTS with DM (n=9), and diabetic peripheral polyneuropathy (DP) groups was compared. The criteria for focal lesion within the carpal tunnel were defined as follows 1) If the maximal conduction time is located at 4-2cm segment distal(designated as '-') to distal wrist crease, it must be prolonged more than 4 times that of the adjoining distal segment or 6 times that of adjoining proximal segment. 2) If the maximal conduction time is located at -6--4cm segment, it must be beprolonged more than 4 times that of the adjoining proximal segment. According to above criteria, the incidened of focal lesion within the carpal tunnel was 84.4%(27/32) and the most common segment of focal lesion was -4--2cm segment(85.2%, 23/27). The P-W/F-P ratio was more decreased in CTS without DM (0. 55 + 0. 11) and CTS with DM(O.68+0.07) groups than control(0382+0.09) and DP(O.81+0.09) groups(P<0.01). In CTS groups, it was more decreased in CTS without DM group than CTS with DM group(p<0.05). So the measurement of sensory nerve conduction velocity of F-P segment of median nerve or the P-W/F-P ratio is helpful not only to evalucate the early distal involvement of peripheral neuropathy but also to establish the subclinical involvement of the segment distal to transverse carpal ligament in CTS with DM group.

CT Findings in Eclampsia

Eclampsia is characterized by hypertension. Proteinuria, edema. And seizures or mental changes after the 20th week of gestation. The incidence of abnormal CT findings in eclamptic patients are reported in 29%-21% previously, according to authors. In many previous reports, abnormal CT findings in eclamptic patients were usually bilateral. Symmetrical and non-enhancing hypodensities with mass effect at posterio; parts of cerebral hemispheres. We anal!zed the abnormal CT findings and clinical findings of 16 eclamptic Korean women and the following results were obtained. 1. There were three patterns of abnormal CT findings: low density pattern(13 cases). High density hemorrhagic pattern(3 cases). And a pattern of generalized cerebral edema(one case). 2. Low density lesions. Which could be found within 24 hours after development of neurologic symptoms or signs were usually bilateral (9/13) and symmetrical (6/9). 3. The usual location of low density lesions was around basal ganglia rather than posterior parts of cerebral hemispheres. The major clinical symptom of basal ganglia lesions was mental change rather than visual symptoms of lesions of posterior parts of cerebral hemispheres. 4. Within 2 weeks. The characteristic low density lesions on CT scans were markedly diminished or disappeared, which run parallel with neurological symptoms. 5. The cases with definite neurological deficits revealed the corresponding CT abnormalities, but the patient with sezure showed variable CT abnormalities.

Two Fatal Cases due to Porphyric Peripheral Neurophathy

We report two cases of porphyric peripheral neuropathy in a 19-year-old male with variegate porphyria and in a 39 year-old male with intermittent acute prophyria. Clinically, there were sensory, motor disturbance and autonomic symptoms including decreased sweating, urinary and sphinctor distrubances. Variegate porphyria showed facial diplegia and positive family history inherited by autosomal dominent trait. Intermittent acute porphyria was combined-with SIADH. Both cases were expired due to respiratory failure. Nerve conduction studies were carried out in two cases and both cases showed slow motor, sensory nerve conductlon velocity ,and significant low CMAPs(Compound Muscle Action Potentials). Sural nerve biopsy was carried out in a variegate prophyria compared with one normal control. Decreased large myelinated fibers was found. In nerve fiber teased study. 8.5% of nerve fibers showed axonal degenration and only 2.3% of the segmental demyelination. There findings are suggesting that the porphyric neuro might be the axonal type.and severe neuropathy in a sign of poor prognosis.

A Case of Cervical cord Tumor with Focal Myokymic Discharge in Intrinsic Hand Muscles

Myokymic discharge is a train of motor unit potentials that occur spontaneously, recur regularly, and sometimes may be associated with clinical myokymia. We report a 39-years-old male with progressive muscle weakness and atrophy of right upper extremity, who revealed focal myokymic discharges in the intrinsic hand muscles where no denervation was evident on EMG study. The cervical CTMM and MRI study showed a large cervical cord tumor at C3-C6 spine level. Postoperative pathological diagnosis of the tumor was anaplastic astrocytoma.