Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological disease

Background Leukoencephalopathy with brain calcifications and cysts (LCC; also known as Labrune syndrome) is a rare genetic microangiopathy caused by biallelic mutations in SNORD118. The mechanisms by which loss-of-function mutations in SNORD118 lead to the phenotype of leukoencephalopathy, calcifications and intracranial cysts is unknown. Case presentation We present the histopathology of a 36-year-old woman with ataxia and neuroimaging findings of diffuse white matter abnormalities, cerebral calcifications, and parenchymal cysts, in whom the diagnosis of LCC was confirmed with genetic testing. Biopsy of frontal white matter revealed microangiopathy with small vessel occlusion and sclerosis associated with axonal loss within the white matter. Conclusions These findings support that the white matter changes seen in LCC arise as a consequence of ischemia rather than demyelination.

NI-19 A case of Leber’s hereditary optic neuropathy with diffuse white matter changes mimicking gliomatosis cerebri

BACKGROUND: Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by bilateral severe subacute central vision loss and a mutation in the mitochondrial DNA (mtDNA). The cranial magnetic resonance imaging (MRI) of LHON patients varies from subtle to multiple white matter changes. However, they rarely present with diffuse infiltrative white matter changes. CASE REPORT: We report a case with diffuse white matter changes mimicking gliomatosis cerebri (GC). The histological findings included only mild glial hyperplasia without immunohistochemical positivity supporting the diagnosis of glial tumors. Analysis of mtDNA obtained from the blood and brain tissue revealed mutation of m.11778G>A in the NADH dehydrogenase 4 gene, which confirmed the case as LHON. Immunohistochemistry of the brain tissue revealed 8-hydroxy-2’-deoxyguanosine positivity, suggesting the presence of oxidative stress. CONCLUSION: LHON is extremely difficult to diagnose unless we suspect or know the disease. The present case brings attention not only to LHON but other mtDNA mutated diseases that need to be considered with diffuse white matter changes or GC.

Case Report: Acute Fulminant Cerebral Edema With Perivascular Abnormalities Related to Kawasaki Disease

Introduction: Kawasaki disease (KD) is an acute systemic vasculitis in children, but 0.4% of patients with KD exhibit central nervous system involvement. Acute encephalitis and encephalopathy accompanied with KD have been reported to be mostly self-limiting complications.Case Presentation: A 2-year-old girl developed recurrent vomiting, a cluster of generalized seizures, and decreased consciousness on day 12 after the onset of KD. Magnetic resonance imaging (MRI) T2-weighted images on day 13 showed high signal intensities in bilaterally symmetrical and subcortical white matter and thalamus, and linear radial hyperintensities parallel to the cerebral vessels of the periventricular white matter. Diffuse white matter hyperintensity on the apparent diffusion coefficient map suggested vasogenic edema. Subsequently, lethal cerebral edema rapidly progressed in 8 hrs after the MRI examination.Conclusion: To our knowledge, acute fulminant cerebral edema in patients with KD has not been previously reported. We should be aware of the possibility of severe encephalitis related to KD. Furthermore, diffuse white matter vasogenic edema with perivascular abnormalities on MRI may be an alerm, potentially leading to fatal cerebral edema.

Leber’s hereditary optic neuropathy with diffuse white matter changes mimicking gliomatosis cerebri: illustrative case

BACKGROUIND Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by bilateral severe subacute central vision loss and a mutation in the mitochondrial DNA (mtDNA). The findings on cranial magnetic resonance imaging of patients with LHON vary from subtle to multiple white matter changes. However, they rarely present with diffuse infiltrative white matter changes. OBSERVATIONS The authors reported a case with diffuse white matter changes mimicking gliomatosis cerebri (GC). The histological findings included only mild glial hyperplasia without immunohistochemical positivity, supporting the diagnosis of glial tumors. Analysis of mtDNA obtained from the blood and brain tissue revealed mutation of m.11778G>A in the NADH dehydrogenase 4 gene, which confirmed the case as LHON. Immunohistochemistry of the brain tissue revealed 8-hydroxy-2′-deoxyguanosine positivity, suggesting the presence of oxidative stress. LESSONS LHON is extremely difficult to diagnose unless one suspects or knows the disease. The present case brings attention not only to LHON but also to other mtDNA-mutated diseases that need to be considered with diffuse white matter changes or GC.

A Case Report of Central Nervous System Graft-Versus-Host Disease and Literature Review

As an adverse immune phenomenon, graft-versus-host disease often occurs after allogeneic hematopoietic stem cell transplantation. The incidence of acute and chronic graft-versus-host disease is about 40–60% and the mortality rate can reach 15%, which is a potentially fatal disease. There are rare GvHD cases involving the central nervous system. We reported a rare case of diffuse white matter changes after haploid bone marrow transplantation, summarizing its clinical manifestations and diagnosis and treatment in conjunction with the literature.

Diffuse encephalitic toxoplasmosis in HIV

This case demonstrates an atypical radiological presentation of cerebral toxoplasmosis in a 62-year-old HIV-positive patient. The diagnosis is discussed alongside MRI imaging, laboratory results and treatment. Central nervous system toxoplasmosis is typically associated with ring enhancing lesions on neuroimaging with contrast, but the radiology for this patient shows diffuse white matter changes and ependymal enhancement, which would normally suggest an alternative diagnosis.

Heterogeneity of multiple sclerosis lesions in fast diffusional kurtosis imaging

Background Mean kurtosis (MK), one of the parameters derived from diffusion kurtosis imaging (DKI), has shown increased sensitivity to tissue microstructure damage in several neurological disorders. Methods Thirty-seven patients with relapsing-remitting MS and eleven healthy controls (HC) received brain imaging on a 3T MR scanner, including a fast DKI sequence. MK and mean diffusivity (MD) were measured in the white matter of HC, normal-appearing white matter (NAWM) of MS patients, contrast-enhancing lesions (CE-L), FLAIR lesions (FLAIR-L) and black holes (BH). Results Overall 1529 lesions were analyzed, including 30 CE-L, 832 FLAIR-L and 667 BH. Highest MK values were obtained in the white matter of HC (0.814 ± 0.129), followed by NAWM (0.724 ± 0.137), CE-L (0.619 ± 0.096), FLAIR-L (0.565 ± 0.123) and BH (0.549 ± 0.12). Lowest MD values were obtained in the white matter of HC (0.747 ± 0.068 10−3mm2/sec), followed by NAWM (0.808 ± 0.163 10−3mm2/sec), CE-L (0.853 ± 0.211 10−3mm2/sec), BH (0.957 ± 0.304 10−3mm2/sec) and FLAIR-L (0.976 ± 0.35 10−3mm2/sec). While MK differed significantly between CE-L and non-enhancing lesions, MD did not. Conclusion MK adds predictive value to differentiate between MS lesions and might provide further information about diffuse white matter injury and lesion microstructure.