• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.18 no.2
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• pp.121-127
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• 2015

Purpose: To evaluate clinical and laboratory profile of Wilson's disease (WD) in children. Methods: This cross sectional study was conducted at Bangabandhu Sheikh Mujib Medical University Hospital. Bangladesh, over a period of 3 years. One hundred consecutive children of WD between 3 to 18 years of age were evaluated. Results: Mean age was $8.5{\pm}1.5years$. Male female ratio was 2:1. Ninety-one percent of patients were Muslim and 9% Hindu. A total of 53% cases of hepatic WD presented between 5 to 10 years of age and most of the neurologic WD manifested in 10-15 years age group. Sixty-nine children presented only with hepatic manifestations, 6 only with neurological manifestations, 14 with both hepatic and neurological manifestation, 10 children was asymptomatic and 1 patient presented with psychiatric features. WD presented as chronic liver disease (CLD) in 42%, CLD with portal hypertension in 34%, acute hepatitis in 20% and fulminant hepatic failure in 4% cases. Stigmata of CLD were found in 18% patients. Keiser-Fleischser ring was found in 76% total patients. Elevated serum transaminase was found in 85% cases, prolonged prothrombin time in 59% cases and hypoalbuminaemia in 53% cases. A total of 73% patients had low serum ceruloplasmin, basal urinary copper of >$100{\mu}g/day$ was found in 81% cases and urinary copper following penicillamine challenge of >$1,200{\mu}g/day$ was found in 92% cases. Conclusion: Majority of studied WD children presented with hepatic manifestation of which 76% presented with CLD. Any child presented with jaundice after the age of 3 years should be investigated for WD.

• Journal of Korean Neurosurgical Society
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• v.41 no.1
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• pp.1-6
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• 2007

Objective : The purpose of this study is to determine the factors that have effects on the neurological deficit in the patients with thoracolumbar fracture. Methods : Forty-eight patients were included. Cause of injury, type of injury, time interval, combined injury, kyphotic angle, spinal canal compromise, sagittal diameter, the most narrow sagittal diameter, transverse diameter, the most narrow transverse diameter, and remained height of vertebra body were concerned as the factors. The patients with American Spinal Injury Association[ASIA] impairment scale grade A to D were considered as having neurology while others with ASIA grade E were considered to be without neurology. The patients with ASIA grade A were classified to paraplegia group and the patients with ASIA grade B to E were not thought to be paraplegia. Statistical analysis for these groups were performed. Results : Spinal canal compromise [P<0.001] have correlation with neurological deficit. The most narrow sagittal diameter was smaller in the group with deficit than that in the group without deficit [P<0.004]. Also, combined injury have correlation with neurology [P=0.028]. Spinal canal compromise [P<0.001], sagittal diameter [P=0.032], the most narrow sagittal diameter [P=0.025], and Denis type [P<0.001] also have correlation with paraplegia. Conclusion : The factors of percentage of spinal canal compromise, the most narrow sagittal diameter, and combined injury are predictive of neurological deficit. The patients with paraplegia may be predicted by the factors such as type of injury, spinal canal compromise, sagittal diameter, the most narrow sagittal diameter, and Denis type.

• Journal of Veterinary Clinics
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• v.36 no.3
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• pp.139-144
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• 2019

Intervertebral disk disease is a common neurological disease in dogs. In veterinary neurology clinics, the incidence of intervertebral disk disease and the spinal cord compression rate of the disk are well documented. However, the direction of herniation of the intervertebral disk is relatively less known on Magnetic resonance imaging (MRI). Therefore, this study systematically investigated and analyzed the intervertebral disk disease in dogs. Especially, classification according to the direction of herniation of the disk, the degree of pre - treatment neurological manifestation, and the compression rate was investigated. In addition, the treatment methods of patients who received treatment after visiting the Chonbuk animal medical center (CAMC) were divided into pharmacological treatment and surgical treatment. The location of intervertebral disc in spinal canal was mainly ventral (69.9%), and when the prognosis was evaluated according to the compression rate of the spinal cord, the prognosis of the surgical treatment (72.7%) was more effective than the non - surgical medication (40.6%). Surgical treatment (83.3%) was more successful than nonsurgical medication (60%), especially in cases of severe spinal cord compression (> 50%). In this study, surgical treatment was more effective when the neurological symptoms were severe or the spinal cord compression rate was high.

• Annals of Clinical Neurophysiology
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• v.9 no.1
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• pp.29-32
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• 2007

Recurrent transverse myelitis is a rare manifestation of systemic lupus erythematosus. Recurrent transverse myelitis presents the biggest diagnostic problem, since it is common manifestation of multiple sclerosis. But it can also be the only feature or first manifestation in systemic lupus erythematosus. Neurological manifestations and magnetic resonance imaging can be indistinguishable, and there are no specific diagnostic tools. Here we describe a 59-year-old female having a systemic lupus erythematosus with recurrent transverse myeltitis. No uniform therapeutic protocol exists for systemic lupus erythematous with transverse myelitis, and the prognosis is usually poor. We suggest that aggressive treatment (usually with pulses of methylprednisolone and cyclophosphamide) might improve the prognosis of systemic lupus erythematosus with transverse myeltis.

• Journal of Genetic Medicine
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• v.10 no.1
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• pp.43-46
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• 2013

Adrenoleukodystrophy (ALD) is an X-linked disorder which has diverse constellation of clinical pictures, ranging from the severe childhood cerebral form to adrenocortical insufficiency without neurological manifestations. This disorder is caused by the mutations in the ABCD1 gene encoding the adrenoleukodystrophy protein (ALDP), a transporter in the peroxisome membrane. ALD in most cases is inherited from one parent. Here, we report an incidentally identified sporadic case with ALD after traffic accident. He had adrenocortical insufficiency as well as abnormal findings in brain image. Genetic testing of ABCD1 gene revealed a previously reported mutation. With the description of clinical features of ALD in this patient, we discussed the difficulty in determining an appropriate therapeutic option for ALD patients with minimal neurological manifestation.

• Journal of Korean Neurosurgical Society
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• v.50 no.1
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• pp.68-71
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• 2011

We present a case of Neuro-Behçet's disease with an unpredictable clinical course. A 47-year-old man was admitted to the neurosurgery department of our hospital with a mild headache. Three days after admission, his consciousness suddenly decreased and respiratory distress progressed rapidly. A brain MRI revealed that the previously observed abnormal signal had extended markedly to both the thalamic areas and the entire brain stem, and the surrounding brain parenchyma were compressed by cerebral edema. Based on the patient's symptoms of recurrent oral and genital ulcers, skin lesions, and uveitis, a rheumatologist made a diagnosis of Behçet's disease with CNS involvement. The patient was treated with high-dose methylprednisolone with respiratory assistance in the intensive care unit for 9 days and his neurologic symptoms improved remarkably. Neuro-Behçet's disease must be considered in the differential diagnosis in rapidly deteriorated young neurological patients along with a stroke, low-grade glioma, multiple sclerosis, and occlusive venous disease.

• Journal of Interdisciplinary Genomics
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• v.2 no.2
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• pp.20-25
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• 2020

Mucopolysaccharidosis type III (MPS III or Sanfilippo syndrome) is a multisystem lysosomal storage disease that is inherited in an autosomal recessive manner. It consists of four subtypes (MPS IIIA, B, C, and D), each characterized by the deficiency of different enzymes that catalyze the metabolism of the glycosaminoglycan heparan sulfate at the lysosomal level. The typical clinical manifestation of MPS III includes progressive central nervous system (CNS) degeneration with accompanying systemic manifestations. Disease onset is typically before the age of ten years and death usually occurs in the second or third decade due to neurological regression or respiratory tract infections. However, there is currently no treatment for CNS symptoms in patients with MPS III. Invasive and non-invasive techniques that allow drugs to pass through the blood brain barrier and reach the CNS are being tested and have proven effective. In addition, the application of genistein treatment as a substrate reduction therapy is in progress.

• Journal of Korean Neurosurgical Society
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• v.40 no.1
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• pp.54-57
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• 2006

Central nervous system[CNS] involvement of acute lymphoblastic leukemia may occur. However, CNS involvement as a first manifestation of leukemia is very rare. An 8-year-old girl complained of a backache after playing in the water. Neurological examination detected progressing paraparesis. Magnetic resonance imaging[MRI] of the thoracolumbar spine showed a well-circumscribed homogeneous posterior extradural mass lesion extending from T7 to T9. MRI of the brain showed diffused fatty marrow replacement of the calvarium and the skull base. We report a patient with epidural Burkitt's lymphoma of the thoracic and lumbar vertebra causing compression of the spinal cord after pathologic evaluation. The tumor consisted mainly of lymphoblastic cells, which were identical to those originally seen in the bone marrow aspiration and biopsy. After decompressive laminectomy she began consolidation chemotherapy.

• Journal of Korean Neurosurgical Society
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• v.45 no.6
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• pp.390-393
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• 2009

Although prompt diagnosis and emergent surgical intervention are important in acute spinal subdural hematoma (SSDH), some cases with spontaneous remission of symptom and hematoma without surgery have been reported. We present a case of acute nontraumatic SSDH presenting with transient left hemiplegia for 4 hours. A magnetic resonance imaging study of cervical spine confirmed SSDH with C3-6 cervical cord compression at the left side. The patient had conservative management without recurrence. Although hemiplegia is an unusual clinical manifestation of SSDH, it should be differentiated from that of cerebrovascular origin promptly. Conservative management may be an alternative therapeutic option for selective cases with transient neurological deficits.

• Journal of Genetic Medicine
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• v.17 no.2
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• pp.102-107
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• 2020

We report the case of an infant with a 4q35.1 deletion with 10p duplication. This mutation is rarely reported in the literature and has been found to have variable clinical findings, often including developmental delay. In this case, the condition was detected by chromosomal microarray analysis after initial manifestation of a feeding problem and developmental delay. Minor dysmorphic features with abnormal neurological examination led to further evaluation. The father's chromosome complement was 46, XY, t(4;10)(q35;p12.2). Parental balanced translocation can go unrecognized, because affected individuals are often phenotypically healthy until they have fertility issues such as recurrent miscarriages or children with severe congenital disorders. Genetic diagnoses help to establish a clear family genetic background that permits the development of clear treatment strategies. Prenatal counseling can also help to understand the possible risks associated with pregnancy or future child planning.