• Title/Summary/Keyword: Neurologic deficits

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Cerebrotendinous xanthomatosis in a 10-year-old male presenting with Achilles tendon xanthoma and mild intellectual disability: A case report

  • Yoon, Ji Hye;Kim, Ka Young;Lee, Sang-Yun;Kim, Soo Yeon;Lee, Young Ah;Ki, Chang-Seok;Song, Junghan;Shin, Choong Ho;Lee, Yun Jeong
    • Journal of Genetic Medicine
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    • v.19 no.1
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    • pp.22-26
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    • 2022
  • Cerebrotendinous xanthomatosis (CTX) is a rare genetic disease caused by a deficiency of enzymes for the synthesis of bile acid, resulting in the accumulation of cholestanol with reduced chenodeoxycholic acid (CDCA) production and causing various symptoms such as chronic diarrhea in infancy, juvenile cataracts in childhood, tendon xanthomas in adolescence and young adulthood, and progressive neurologic dysfunction in adulthood. Because oral CDCA replacement therapy can effectively prevent disease progression, early diagnosis and treatment are critical in CTX. This study reports the case of CTX in a 10-year-old male who presented with Achilles tendon xanthoma and mild intellectual disability. Biochemical testing showed normal cholesterol and sitosterol levels but elevated cholestanol levels. Genetic testing showed compound heterozygous variants of CYP27A1, c.379C>T (p.Arg127Trp), and c.1214G>A (p.Arg405Gln), which confirmed the diagnosis of CTX. The patient had neither cataracts nor other focal neurologic deficits and showed no abnormalities on brain imaging. The patient received oral CDCA replacement therapy without any adverse effects; thereafter, the cholestanol level decreased and no disease progression was noted. The diagnostic possibility of CTX should be considered in patients with tendon xanthoma and normolipidemic conditions to prevent neurological deterioration.

The Effect of Gluteus Medius Taping on Balance and Walking in Chronic Stroke Patients (만성 뇌졸중 환자의 마비측 중간볼기근 테이핑이 균형과 보행에 미치는 영향)

  • Lee, Yangjin;Cho, Namjeong
    • Journal of The Korean Society of Integrative Medicine
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    • v.6 no.3
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    • pp.17-24
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    • 2018
  • Purpose : Kinesio taping is a therapeutic method used in the treatment of various musculoskeletal and neuromuscular deficits limited evidence the effects of gluteus medius kinesio taping in neurologic patients. Therefore, this study aimed to determine the effects of gluteus medius kinesio taping on balance ability and gait function in after a stroke. Methods : Twenty-four post-stroke patients were included in this study. Gluteus medius taping group and sham gluteus medius taping group were divided into intervention. Kinesio tape was applied the gluteus medius muscles. In all the subjects, the balance ability was measured using the force plate and timed up & go test (TUG) and gait function was assessed using the 10-meter walking test at time points of both before and after the taping. Result : There was a significant difference in balance ability and gait function between the two groups before and after gluteus medius taping group (p<.05). The gluteus medius taping group showed a significant difference between the groups (p<.05). Conclusion : The results suggest that taping may be a useful method during rehabilitation programs for stroke patients. Application of Kinesio taping to the gluteus medius muscles was found to be useful especially in improving balance ability.

One Case of Dizzness and Diplopia from Pontine Infarction Treated with Joganiknoe-tang (뇌교경색으로 인한 현훈 및 복시증상에 조간익뇌탕(助肝益腦湯)을 투여한 치험 1례)

  • Lee, Yun-Jae;Lee, Jung-Sub;Moon, Mi-Hyun;Cho, Young-Kee;Lee, Seong-Kyun;Jeong, Hyun-Ae;Yun, Jong-Min;Shin, Sun-Ho;Rhim, Eun-Kyung
    • The Journal of Internal Korean Medicine
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    • v.26 no.4
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    • pp.881-888
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    • 2005
  • Pontine infarction presents variable neurologic deficits because the pons is a very complicated organ with cranial nerve nuclei and several fiber tracts. A 65 year-old women with dizzness, ataxia and diplopia because of Pontine infarction was admitted at Wonkwang University Jeonju Oriental Medicine Hospital. She was treated with the herbal medicine Joganiknoe-tang(助肝益腦湯) and with acupunture. Improvement in these symptoms was observed, so the specifics of the process in which the patient was treated are here described. Results suggest that Joganiknoe-tang(助肝益腦湯) is an effective treatment for symptoms of pontine infarction.

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Effect of Skater Exercise on Cardiopulmonary Fitness and Balance in Patients with Mild Chronic Stroke. - A Pilot Study -

  • Kim, Min-Su
    • The Journal of Korean Physical Therapy
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    • v.28 no.5
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    • pp.334-340
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    • 2016
  • Purpose: This study was conducted to investigate the effects of skater exercise on cardiopulmonary fitness and balance function in patients with mild chronic stroke. Methods: A total of ten chronic stroke patients with mild neurologic deficits were recruited. The participants were divided into two groups, a skater exercise (n=5) and a control group (n=5). Skater exercise was performed by physical therapists in the experimental group, whereas patients in the control group conducted self-exercise. One session of the intervention was carried out for 30 minutes, three times per week for eight weeks. Cardiopulmonary function, falling index, and Euro-Quality of Life-5 Dimension (EQ-5D) were measured before and after the intervention. Results: No side effects were reported during and after skater exercise intervention. The peak aerobic capacity, falling index, and EQ-5D improved significantly in the experimental group compared with the control group after eight weeks of skater exercise (p=0.002, p=0.010, and p=0.006). Significant relationships were identified between the change in EQ-5D and peak aerobic capacity (R2=0.75, p=0.002)/falling index (R2=0.65, p=0.002). Conclusion: Skater exercise was an effective physical therapy to improve cardiopulmonary fitness and balance function in patients with mild chronic stroke.

Cervical Fibrous Dysplasia Presenting as a Pathologic Fracture in an Older Patient

  • Lee, Su-Heon;Han, In-Ho;Kang, Dong-Wan;Choi, Byung-Kwan
    • Journal of Korean Neurosurgical Society
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    • v.50 no.2
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    • pp.139-142
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    • 2011
  • Vertebral involvement of fibrous dysplasia (FD) is rare, especially in the cervical spine. Moreover, cervical FD presenting as a pathologic fracture in older patients is extremely rare. We report a case of symptomatic cervical FD associated with pathologic fracture in a 63-year-old man. The patient presented with progressive weakness of the left arm and pain in the shoulder and arm. Radiologic studies revealed a collapsed and typical 'ground glass' radiolucency of C4. Multiple lytic lesions involved the odontoid process of C2 and the body, left pedicle, and posterior elements of C4. Combined anterior and posterior decompression and reconstruction were performed. Post-operatively, the histopathologic examination confirmed FD. On the post-operative follow-up examination, the neurologic deficits had completely resolved.

Y-Stenting Endovascular Treatment for Ruptured Intracranial Aneurysms : A Single-Institution Experience in Korea

  • Lee, Woo Joo;Cho, Chun-Sung
    • Journal of Korean Neurosurgical Society
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    • v.52 no.3
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    • pp.187-192
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    • 2012
  • Objective : Stent-assisted coiling on intracranial aneurysm has been considered as an effective technique and has made the complex aneurysms amenable to coiling. To achieve reconstruction of intracranial vessels with preservation of parent artery the use of stents has the greatest potential for assisted coiling. We report the results of our experiences in ruptured wide-necked intracranial aneurysms using Y-stent coiling. Methods : From October 2003 to October 2011, 12 patients (3 men, 9 women; mean age, 62.6) harboring 12 complex ruptured aneurysms (3 middle cerebral artery, 9 basilar tip) were treated by Y-stent coiling by using self-expandable intracranial stents. Procedural complications, clinical outcome, and initial and midterm angiographic results were evaluated. The definition of broad-necked aneurysm is neck diameter over than 4 mm or an aneurysm with a neck diameter smaller than 4 mm in which the dome/neck ratio was less than 2. Results : In all patients, the aneurysm was successfully occluded with no apparent procedure-related complication. There was no evidence of thromboembolic complication, arterial dissection and spasm during procedure. Follow-up studies showed stable and complete occlusion of the aneurysm in all patients with no neurologic deficits. Conclusion : The present study did show that the Y-stent coiling seemed to facilitate endovascular treatment of ruptured wide-necked intracranial aneurysms. More clinical data with longer follow-up are needed to establish the role of Y-stent coiling in ruptured aneurysms.

Cavernous Hemangioma in the Middle Cranial Fossa & Cavernous Sinus

  • Park, Chang-Kyu;Lee, Mou-Seop;Kim, Young-Gyu;Kim, Dong-Ho
    • Journal of Korean Neurosurgical Society
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    • v.40 no.4
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    • pp.277-280
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    • 2006
  • Extracerebral cavernous hemangiomas are rare vascular tumors that are very difficult to remove because of severe intraoperative bleeding. We report a case of 57-year-old male with extracerebral cavernous hemangioma with review of 126 cases in the literature. Patient presented with blurred vision, diplopia, numbness on the left side of his face. Magnetic resonance imaging revealed a well defined mass of $3{\times}4{\times}3cm$ size with heterogenous iso-or hypointensity on T1-weighted image showing strong homogenous contrast enhancement and marked hyperintensity on T2-weighted image. Digital subtraction angiography[DSA] revealed a faint tumor blush by feeders from the left internal carotid artery[ICA] and left external carotid artery[ECA] in the delayed phase. Even with profuse intratumoral bleeding, near total removal was achieved. In addition to preoperative neurologic deficits such as ophthalmoplegia, facial numbness in the V1-2 dermatomes, ptosis appeared postoperatively.

Congenital Cleft of Anterior Arch and Partial Aplasia of the Posterior Arch of the C1

  • Choi, Ji-Won;Jeong, Je-Hoon;Moon, Seung-Myung;Hwang, Hyung-Sik
    • Journal of Korean Neurosurgical Society
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    • v.49 no.3
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    • pp.178-181
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    • 2011
  • Congenital anomalies in arches of the atlas are rare, and are usually discovered incidentally. However, a very rare subgroup of patients with unique radiographic features is predisposed to transient quadriparesis after minor cervical or head trauma, A 46-year-old male presented with a 2-month history of tremor and hyperesthesia of the lower extremities after experiencing a minor head trauma. He said that he had been quadriplegic for about 2 weeks after that trauma. Radiographs of his cervical spine revealed bilateral bony defects of the lateral aspects of the posterior arch of C1 and a midline cleft within the anterior arch of the atlas. A magnetic resonance imaging revealed an increased cord signal at the C2 level on the T2-weighted sagittal image. A posterior, suboccipital midline approach for excision of the remnant posterior tubercle was performed. The patient showed significant improvement of his motor and sensory functions. Since major neurologic deficits can be produced by a minor trauma, it is crucial to recognize this anomaly.

Huge Size Intracranial Plasmacytoma Treated with Surgery and Fractionated Stereotactic Radiotherapy

  • Choi, Woo-Jin;Yee, Gi-Taek;Choi, Chan-Young;Whang, Choong-Jin
    • Journal of Korean Neurosurgical Society
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    • v.40 no.2
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    • pp.110-113
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    • 2006
  • Surgery and radiotherapy are mainly used for plasma cell neoplasm which constitutes about $1{\sim}2%$ of human malignancy. The authors carried out Fractionated Stereotactic Radiotherapy[FSRT] on the residual tumor after the subtotal removal of Intracranial plasmacytoma. A huge mass lesion was observed on MRI [magnetic resonance image] in the left anterior and middle cranial fossa of a 63-year-old man with left exophthalmus which lasted for a month, and was suspected as a meningioma with strong contrast enhancement. Extramedullary plasmacytoma was diagnosed on histopathological examination. After the surgery, FSRT was also carried out on the residual tumor which invaded the skull base. One-year follow up after FSRT showed contrast enhancement only in the left sphenoid bone on MRI, which indicated significant decrease in the size of the tumor without any abnormal neurologic deficits. We treated intracranial plasmacytoma which invaded left anterior and middle cranial fossa and surrounded cavernous sinus without cranial nerve deficit through subtotal tumor removal and FSRT.

Magnetic Resonance Imaging Diagnosis of Epidural Idiopathic Sterile Pyogranulomatous Inflammation in a Dog

  • Hwang, Taesung;Shin, Changho;Kim, Youngki;Yeon, Seongchan;Lee, Hee-chun
    • Journal of Veterinary Clinics
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    • v.34 no.5
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    • pp.377-380
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    • 2017
  • An 8-year-old, shih-tzu female dog was referred due to neurological signs including paraparesis and back pain. On the complete blood count, hematologic analysis showed elevated leukocytosis. Serum biochemical analysis revealed elevated serum alkaline phosphatase concentration and C-reactive protein concentration. On the neurologic exam, the dog was suspected to have thoracolumbar myelopathy. On magnetic resonance imaging, there were masses within the spinal canal at L1-3 intervertebral disc space that were located dorsal to spinal cord. It was hyperintense on T1-, T2-weighted magnetic resonance images, Fluid-attenuated inversion recovery, and fat suppression images. The contrast-enhanced T1-weighted images showed no enhancement. The lesions were well circumscribed. The spinal cord was compressed and displaced ventrally by the mass. After removal of the masses via L1-L3 dorsal laminectomy, pyogranulomatous inflammation was confirmed by histopathological examination. Six months after surgery, the dog recovered uneventfully and remained fully ambulatory with no neurological deficits. This case demonstrates the utility of magnetic resonance imaging for the diagnosis of spinal canal pyogranulomatous inflammation.