Extensive Leukoencephalopathy in Spastic Paraplegia Type 4: Possible Role of Cerebral Autosomal Arteriopathy With Subcortical Infarcts and Leukoencephelopathy

정진호,서정화,이석윤,허영진,김동현,정은주,오성일 대한파킨슨병및이상운동질환학회 2022 Journal Of Movement Disorders Vol.15 No.1

Despite recent advances in next-generation sequencing, the underlying etiology of adult-onset leukoencephalopathy has been difficult to elucidate. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a representative hereditary adult-onset leukoencephalopathy associated with vasculopathy. Leukoencephalopathy in spastic paraplegia type 4 (SPG4) is known to be rare, but it might be underestimated because most spastic paraplegia with leukoencephalopathy is rarely considered. We report a case of co-occurring SPG4 and CADASIL. A 61-year-old male presented with sudden visual impairment after a headache. He showed a spastic gait and had a family history with similar symptoms. An SPG4 gene mutation and a pathogenic variant in the NOTCH3 gene were found. This case shows that the diverse and complex clinical manifestations of patients with extensive leukoencephalopathy are related to more than one gene mutation. We also suggest the necessity for relevant genetic tests in the diagnosis of adult-onset leukoencephalopathy.

엽산염 결핍을 동반한 백색질뇌증(Leukoencephalopathy)

한수정(Soo-Jeong Han),이정은(Jeong-Eun Lee),김정연(Jung-Yeon Kim) 대한임상노인의학회 2005 대한임상노인의학회지 Vol.6 No.4

연구배경: 엽산염 결핍은 말초신경병증, 아급성 결합성 척수변성, 백색질뇌증 등의 신경병증을 유발할 수 있다. 엽산염 결핍을 동반한 백색질뇌증 환자를 경험하여 보고하는 바이다. 방법: 보호소 생활을 해오던 자기 표현이 떨어진 만성 정신 분열증 환자의 보행 장애에 대해서, 혈액 검사, 근전도 검사, 뇌 자기공명 영상 검사 등을 시행하였다. 결과: 혈액 검사상, 엽산염 결핍이 관찰되었고, 근전도 검사상, 말초 감각신경병증 및 하지의 체성감각 유발전위가 유발되지 않았으며, 뇌 자기공명 영상 검사상 백색질뇌증이 관찰되었다. 3개월 간의 경구 엽산염 투여 후 보행 장애의 개선이 관찰되었다. 결론: 보호소 생활을 한 자기 표현이 떨어진 만성 정신 분열증 환자에서, 엽산염 결핍과 관련되는 것으로 추정되는 백색질뇌증, 후주 체성감각 유발전위 이상, 감각신경병증을 동반한 보행 장애를 경험하여 문헌고찰과 함께 보고하는 바이다. Background: Folate decificiency may induce neuropathies such as peripheral polyneuropathy, subacute combined degeneration, and leukoencephalopathy. We report a case of leukoencephalopathy associated with folate deficiency. Methods: We conducted blood tests, electrodiagnostic study and cerebral magnetic resonance imaging for a 64-year-old schizophrenic man with gait disturbance who had lived in shelter. Results: Blood test reveals folate deficiency and the electrodiagnostic findings were mild axonal sensory neuropathy with inconsistent response of somatosensory evoked potential in both lower extremities. The cerebral magnetic resonance imaging finding was a diffuse leukoencephalopathy. Gait disturbance improved after administration of oral folic acid for 3 months. Conclusion: We report the possibility of a leukoencephalopathy, an abnormality of somatosensoty evoked potential and sensory neuropathy associated with folate deficiency.

Stroke Mimicking Encephalopathy as an Initial Manifestation of Diffuse Large B-Cell Lymphoma

김정민,정근화,이순태,박희권,노재규,주건 대한신경과학회 2009 Journal of Clinical Neurology Vol.5 No.2

BackgroundaaSystemic lymphoma can be difficult to recognize due to its diverse manifestations. Paraneoplastic leukoencephalopathy has rarely been reported in the context of lymphoma. Case ReportaaWe report a 45-year-old man with systemic lymphoma whose initial manifestation was sudden-onset leukoencephalopathy, mimicking stroke. This patient, who was eventually diagnosed with diffuse large B-cell lymphoma, initially presented with sudden cognitive impairment and gait disturbance. Radiological studies suggested a paraneoplastic leukoencephalopathy. Chemotherapy for lymphoma resulted in clinical and radiological improvement. ConclusionsaaThe presented case indicates that diffuse large B-cell lymphoma may initially appear as a treatable leukoencephalopathy.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A Genetic Cause of Cerebral Small Vessel Disease

최재철 대한신경과학회 2010 Journal of Clinical Neurology Vol.6 No.1

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder of the cerebral small blood vessels caused by mutations in the Notch3 gene. The exact prevalence of this disorder was unknown currently, and the number of reported CADASIL families is steadily increasing as the clinical picture and diagnostic examinations are becoming more widely known. The main clinical manifestations are recurrent stroke, migraine, psychiatric symptoms, and progressive cognitive impairment. The clinical course of CADASIL is highly variable, even within families. The involvement of the anterior temporal lobe and the external capsule on brain magnetic resonance imaging was found to have high sensitivity and specificity in differentiating CADASIL from the much more common sporadic cerebral small-vessel disease (SVD). The pathologic hallmark of the disease is the presence of granular osmiophilic material in the walls of affected vessels. CADASIL is a prototype single-gene disorder that has evolved as a unique model for studying the mechanisms underlying cerebral SVD. At present, the incidence and prevalence of CADASIL seem to be underestimated due to limitations in clinical, neuroradiological, and genetic diagnoses of this disorder.

일시적 함구증으로 나타난 카페시타빈항암제 유발 급성 독성백질뇌병증

김형호,김현지,김수민,김수현,김건하 대한신경과학회 2022 대한신경과학회지 Vol.40 No.2

Capecitabine, a precursor of 5-fluorouracil (5-FU), is a well-tolerated and safe chemotherapy that has been used to treat breast, pancreatic, and colorectal cancers. Albeit rare, both 5-FU and capecitbine have been reported to be associated with acute central nervous system toxicity, including cerebellar dysfunction, posterior reversible encephalopathy syndrome, and transient leukoencephalopathies. Here we present a case of 32-year-old female, demonstrating transient mutism related to capecitabine induced acute toxic leukoencephalopathy.

Magnetic Resonance Imaging and Clinical Features of Chlorfenapyr-Induced Toxic Leukoencephalopathy: A Case Report

김종혁,박노혁,박지연,김선정 대한영상의학회 2020 대한영상의학회지 Vol.81 No.4

Chlorfenapyr is widely used as an insecticide, despite it being fatal to humans. However, chlorfenapyr- induced central nervous system toxicity has rarely been reported. We report the magnetic resonance imaging (MRI) findings in a rare case of chlorfenapyr-induced toxic leukoencephalopathy. A 71-year-old man who had ingested chlorfenapyr approximately two weeks prior visited our hospital and presented with bilateral lower motor weakness and voiding dysfunction that had developed two days before admission. Brain MRI revealed extensive bilateral white matter abnormalities involving the corpus callosum, internal capsule, brain stem, and bilateral middle cerebellar peduncle. Furthermore, spine MRI revealed diffuse swelling and hyperintensity on the T2-weighted images.

독시플루리딘으로 인해 위암 환자에 발생한 가역적백질뇌병증

오성일,유영선,김호숙,신재국,김상진 대한신경과학회 2016 대한신경과학회지 Vol.34 No.1

Doxifluridine neurotoxicity is more rare than 5-FU neurotoxicity. We report a case of leukoencephalopathy caused by long-term use of doxifluridine and which was resolved after discontinuation. A 37-year-old woman who had been on doxifluridine for 4 months after gastrectomy presented with dysarthria. Diffusion-weighted MRI imaging revealed multifocal hyperintense lesions in subcortical areas. Her symptoms disappeared after discontinuing doxifluridine, and lesions on follow-up MRI were resolved. These findings suggest that doxifluridine is a plausible cause of reversible leukoencephalopathy.

Reversible Metronidazole-induced Encephalopathy in a Patient with Acute Lymphoblastic Leukemia during Chemotherapy

배현우,이소미,김지윤 대한소아혈액종양학회 2017 Clinical Pediatric Hematology-Oncology Vol.24 No.2

We describe our experience regarding metronidazole-induced encephalopathy in a patient with acute lymphoblastic leukemia during chemotherapy. A 17-year-old girl was admitted to our institution with complaints of abdominal pain and mucoid stools. She was diagnosed with acute lymphoblastic leukemia and had been undergoing intensified chemotherapy protocol. During the fifth week of interim maintenance-1 therapy, she developed a fever and complained of chills. On stool examination, stool occult blood was positive and Clostridium difficile toxin A/B test was positive. She was started on metronidazole treatment for possible Clostridium difficile infection and other inflammatory gastrointestinal diseases. Ten days later, the patient complained of dizziness and nausea. A brain MRI was performed to make a differential diagnosis of any chemotherapy-induced CNS complication such as necrotizing leukoencephalopathy. The brain MRI showed features of metronidazole-induced encephalopathy. Metronidazole was discontinued and symptoms started to subside four days after. A follow-up brain MRI performed at four weeks showed that lesions of the dentate nucleus had disappeared.

Leukoencephalopathy and Disseminated Necrotizing Leukoencephalopathy Following Intrathecal Methotrexate Chemotherapy and Radiation Therapy for Central Nerve System Lymphoma or Leukemia

Kim, Ji-Yeon,Kim, Sung-Tae,Nam, Do-Hyun,Lee, Jung-Il,Park, Kwan,Kong, Doo-Sik The Korean Neurosurgical Society 2011 Journal of Korean neurosurgical society Vol.50 No.4

Objective : Intrathecal methotrexate (MTX) therapy combined with whole brain radiotherapy (WBRT) is one of the major treatment modalities for leukemia and lymphoma involving the central nervous system (CNS). The purpose of this study was to retrospectively determine the incidences of leukoencephalopathy and disseminated necrotizing leukoencephalopathy (DNL) following intrathecal MTX therapy for CNS lymphoma or leukemia and to assess the potential risk factors. Methods : Between January 2000 and August 2009, 143 patients with CNS lymphoma or leukemia received intrathecal MTX therapy alone or in combination with WBRT at a single institution. Patients were followed up clinically and radiologically at regular two- or three-month intervals. Medical records were reviewed to obtain information regarding the patients' demographics, medical histories, radiologic characteristics, treatments, and clinical courses. Results : On follow-up MR images, leukoencephalopathy was found in 95 of 143 patients (66.4%). The median time to develop leukoencephalopathy was 6.6 months. Among those with leukoencephalopathy, four patients showed seven extensive white-matter changes with strongly enhancing lesions demonstrating DNL. Histological confirmation was done in six lesions of three patients and radiological diagnosis alone in one patient. Four lesions spontaneously disappeared on MR images without any treatment, with a mean duration of 14 months before disappearance of DNL. Conclusion : Leukoencephalopathy is a common phenomenon that occurs following intrathecal MTX therapy; however, DNL occurs at a very low incidence. For newly developed enhancing lesions, consideration for the occurrence of DNL should be taken to avoid unnecessary invasive procedures or therapies.

메토트렉세이트 경구복용 후 발생한 가역소뇌백질뇌병증

이주연,오응석,정성해,손은희,이애영 대한신경과학회 2014 대한신경과학회지 Vol.32 No.3

Methotrexate (MTX)-induced leukoencephalopathy is the most often reported leukoencephalopathy followingintrathecal or intravenous administration. A 72-year-old woman developed leukoencephalopathy localized to thecerebellum after treatment with oral MTX at a dose of 15 mg/week for 3 years. She complained of subtle imbalanceduring walking and reported having fallen. Her symptoms improved after discontinuation of MTX, and theleukoencephalopathy resolved. This is therefore a case report of selective cerebellar reversible leukoencephalopathyassociated with oral MTX.