Megalencephalic LEUKOENCEPHALOPATHY with subcortical cysts (MLC), a demyelination leukodystrophy, is usually characterized by early-onset macrocephaly and gradually progressive motor and mild mental deterioration. Variable clinical expression has been reported in MLC especially in adult cases. In this study, a multi affected family with variable phenotypes including an asymptomatic adult individual is reported to expand the clinical spectrum of MLC. A seven-year old boy was referred to our hospital due to macrocephaly and gait disturbance. According to brain magnetic resonance imaging (MRI) findings, molecular studies were done to confirm the probable diagnosis of MLC in index case followed by family segregation analysis. A homozygous splice site variant, c. 177+1G>T in MLC1 gene was found in proband, his mother and two aunts. Aunts were clinically affected but his mother had no clinical symptoms despite bi-allelic mutation in MILC1. The clinical data and available MRI findings were reviewed for these cases. A comprehensive searchwasconductedonclinical variations of MLC. Phenotypic variability and/or reduced penetrance are important phenomena in MLC. We extended phenotypic variation in MLC by reporting an asymptomatic adult case with a known pathogenic mutation in MLC1 gene.

Progressive multifocal LEUKOENCEPHALOPATHY (PML) is a lytic infection of the central nervous system caused by the reactivation of John Cunningham Virus (JCV) in severely immunosuppressed patients. Occurrence of PML after solid organ transplantations, especially after liver transplantation, is rare. If a patient has poor prognostic factors such as atypical radiological involvements or high viral load in cerebrospinal fluid (CSF), overall survival rates could be poor. Herein, we report on a patients who underwent liver transplantation three times and developed PML with unexpected radiological findings; he was also positive for JCV DNA with a high viral load. Although there are limited data about efficacy of cytarabine against JCV, it was given to the patient for five days. Despite the initiation of cytarabine and complete cessation of the immunosuppressive therapy, we lost the patient, unfortunately.

Posterior reversible LEUKOENCEPHALOPATHY syndrome (PRES) is an acute neurologic dysfunction accompanied by imaging abnormalities of brain which can follow the treatment with calcineurin inhibitors. 1 While clinical PRES is mainly reversible when expeditiously recognized, it could be associated with significant morbidity and mortality if diagnosed late. 2 A 14-years old boy with end-stage renal disease received a kidney transplant from a deceased donor. He was given polyclonal antibody, for induction, and mycophenolate mofetil, prednisolone, and tacrolimus, as maintenance therapy. Five days after transplantation, he developed headache and seizures. Neurologic examination, vital signs, and other general physical examination were normal. Tacrolimus trough level was within therapeutic range. Lumbar puncture, blood and urine cultures, and other laboratory findings were normal. Echocardiography showed no vegetation. A brain magnetic resonance imaging showed hyperintensity in the subcortical and cortical regions of the bilateral parieto-occipital lobes in T2-weighted, matching PRES. Tacrolimus was replaced by cyclosporine. Seizures were controlled with low-dose antiepileptics. One year after transplantation, the patient had no more episodes of seizure, while the antiepileptic dose was tapered; however, the follow-up imaging showed lesions remained almost unchanged.

Polyomaviruses may cause human disease, particularly in immunocompromised hosts. JCV, one of the members of polyomaviridae family, is the causative agent of the neurological disease progressive multifocal LEUKOENCEPHALOPATHY (PML), which occurs mostly in immunocompromised patients. Progressive Multifocal LEUKOENCEPHALOPATHY (PML) is a progressive demyelinating disorder of the central nervous system (CNS) resulting from infection of oligodendrocytes by JC polyomavirus. Whereas after highly active antiretroviral therapy (HAART), the incidence of nearly all of all neurological complication have decreased, this article evaluates the incidence and prognosis of JC polyomavirus-associated PML including a unchangeable incidence of PML associated with JC polyomavirus compared with other opportunistic disease and paradoxical results of disease remission in HAART era.

Levamisole is an anthelmintic agent and also immunostimulant drug which is used to treat colorectal cancer. The present study aimed to show accidental consumption of levamisole alone induced multifocal inflammatory LEUKOENCEPHALOPATHY. A 53-year-old male was admitted to the Neurology Department of Farabi Hospital (Kermanshah, Iran) with walking inability and recognition disorder. Following clinical examinations, the patient diagnosed as multifocal inflammatory LEUKOENCEPHALOPATHY following levamisole consumption. The patient was treated with intravenous methylprednisolone followed by prednisolone. The magnetic resonance imaging (MRI) was done 1 month later and did not show a reduction or remission in the lesions. History of the patient showed that he had accidentally consumed levamisole 8 months ago. It seems that the consumption of levamisole can induce multifocal inflammatory LEUKOENCEPHALOPATHY and delayed treatment of the patient with corticosteroid cannot diminish the neurotoxicity of levamisole. In addition, the cytotoxic dose of levamisole induces irreversible multifocal inflammatory LEUKOENCEPHALOPATHY.

Background: Posterior reversible LEUKOENCEPHALOPATHY syndrome (PRLS) is a clinical and radiological syndrome of heterogeneous etiologies that are grouped because of the similar findings on neuroimaging studies which may occur at any age. The pathogenesis of RPLS remains unclear, but it appears to be related to disordered cerebral autoregulation and endothelial dysfunction. The syndrome is more commonly seen in women, RPLS has been described in several medical conditions, with hypertensive encephalopathy, eclampsia, and the use of cytotoxic and immunosuppressant drugs being the most common conditions. Prompt recognition and treatment are important in preventing the permanent damage that can occur in this otherwise typically reversible condition. The pathogenesis of RPLS remains unclear, but it appears to be related to disordered cerebral autoregulation and endothelial dysfunction. This report aimed to introduce a case of reversible posterior LEUKOENCEPHALOPATHY following postpartum thrombotic thrombocytopenic purpura (TTP). Case presentation: The patient was a 30-year-old primigravid woman at 33 weeks of pregnancy who was referred to the Ghaem hospital, Mashhad University of Medical Sciences in Mashhad in July 2017 due to high blood pressure, blurred vision, headache and generalized tonic colonic seizure. She did not report in previous history of high blood pressure or seizure before pregnancy. With a diagnosis of eclampsia remote from delivery, she underwent a cesarean section. After delivery, generalized tonic colonic seizure repeated several times and a significant reduction in consciousness level happened. Renal failure also occurred, so she underwent daily plasmapheresis with a diagnosis of TTP. After 35 days, she was discharged with a good general condition. Conclusion: In predisposing conditions, such as high blood pressure in pregnancy, in the case of clinical suspicion of posterior LEUKOENCEPHALOPATHY, any attempt for early diagnosis and appropriate treatment are important factors in reducing the rate of morbidity and mortality.

Introduction: Progressive multifocal LEUKOENCEPHALOPATHY (PML) is a demyelinating disease of the central nervous system (CNS) caused by the JC virus (JCV). Case Presentation: A 47-year-old woman with no history of any underlying diseases was hospitalized at our center with a loss of consciousness and aphasia. The investigation of the patient’ s history revealed that she had been hospitalized in another hospital a month earlier due to right hemiparesis and dysarthria. Brain imaging was repeated that revealed demyelinating lesions. The laboratory studies showed a positive human immunodeficiency virus (HIV) serology. The polymerase chain reaction (PCR) of the cerebrospinal fluid (CSF) for JCV turned out positive and the diagnosis of PML was established. Conclusions: Progressive multifocal LEUKOENCEPHALOPATHY should always be considered as an important differential diagnosis in patients with demyelinating brain lesions and HIV testing should be considered in these patients, as well.

Background: Megalencephalic LEUKOENCEPHALOPATHY with subcortical cysts (MLC) is an autosomal recessive disorder characterized by macrocephaly, and slowly progressive clinical course marked by ataxia, spasticity and mental decline. MLC is caused by mutations in the gene MLC1 which encodes a novel protein, MLC1.Case Presentation: A 4-year-old girl with macrocephaly, spasticity, ataxia and abnormal cerebral white matter and subcortical cysts in brain MRI diagnosed with MLC. This is the first report of MLC in an Iranian family.Conclusion: MLC1 should be considered in children with macrocephaly and slowly progressive psychomotor decline. This disease can be prenatally diagnosed and genetic counseling offered for future pregnancies.

Background: Reversible posterior LEUKOENCEPHALOPATHY syndrome (RPLE) is an increasingly recognized disorder, most commonly associated with immunosuppressive and cytotoxic agent, malignant hypertension and toxemia of pregnancy. Neurological symptoms are headache, mental and visual disturbance, and seizures. Brain MRI findings are symmetrical bilateral hyper intense areas of occipital and parietal lobes in T2-weighted magnetic resonance (MR) images. This finding is reversible with prompt successful treatment which may take days to weeks for full reversal. Case Presentation: We observed a case of status epilepticus which occurred 32 days after liver transplantation in a patient on regimen consisting of Tacrolimus (FK 506). He had no history of neurologic disease or metabolic abnormalities. Typical findings of RPLE were present on brain MRI. The recurrence of seizures terminated after a few hours with adding Na-valproate to Phenytoin, Phenobarbital and Midazolam. The radiological finding of brain MRI gradually diminished after several weeks. Conclusion: A physician should be alert of seizures during early post transplant period of liver transplantation. He should bear in mind the diagnosis of RPLE and consider discontinuation of immunosuppressive drugs.