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

BMC Neurology ◽  
2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Michelle Paff ◽  
Nardin Samuel ◽  
Noor Alsafwani ◽  
Darcia Paul ◽  
Phedias Diamandis ◽  
...  
Keyword(s):  
White Matter ◽  
Neurological Disease ◽  
Loss Of Function ◽  
Vessel Occlusion ◽  
White Matter Changes ◽  
Case Presentation ◽  
Diffuse White Matter ◽  
Frontal White Matter ◽  
Intracranial Cysts ◽  
Biallelic Mutations

Abstract 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.

Aspetti neuroradiologici della sindrome adreno-genitale

2003 ◽  
Vol 16 (3) ◽  
pp. 435-437
Author(s):  
M.G. Egitto ◽  
C. Uggetti ◽  
R. Bergamaschi ◽  
C. Livieri
Keyword(s):  
White Matter ◽  
Cortical Atrophy ◽  
White Matter Hyperintensity ◽  
Adrenogenital Syndrome ◽  
White Matter Changes ◽  
Tonsillar Ectopia ◽  
Diffuse White Matter ◽  
Neuroradiological Examination ◽  
Tnf Gene ◽  
Cerebellar Tonsils

We describe the results of a study on 21 patients with adrenogenital syndrome without neurological symptoms who underwent neurological examination, neurophysiological tests and MR scan. Only five patients (23.8%) had a negative neuroradiological examination, whereas 14 (66.3%) presented focal or diffuse white matter hyperintensity, ten (47.6%) had supratentorial cortical atrophy and seven (33.3%) inferior ectopia of the cerebellar tonsils. The frequency of white matter changes was not a chance finding and the lesions are speculated to be demyelinating. This hypothesis is interesting because the gene responsible for a deficit of the 21 beta-hydroxylase enzyme implicated in adrenogenital syndrome is near to the TNF gene implicated in the origin of multiple sclerosis. The possible causes of supratentorial atrophy and tonsillar ectopia are also discussed.

Diffuse encephalitic toxoplasmosis in HIV

2021 ◽  
Vol 14 (3) ◽  
pp. e237456
Author(s):  
Jasmine Pearce ◽  
Ray Sheridan ◽  
Johnathan Shaw ◽  
Thomas Senior
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
White Matter ◽  
Positive Patient ◽  
Hiv Positive ◽  
Cerebral Toxoplasmosis ◽  
Mri Imaging ◽  
White Matter Changes ◽  
Diffuse White Matter ◽  
Laboratory Results

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.

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

2021 ◽  
Vol 1 (26) ◽  
Author(s):  
Wakiko Saruta ◽  
Ichiyo Shibahara ◽  
Hajime Handa ◽  
Madoka Inukai ◽  
Shunsuke Kanayama ◽  
...  
Keyword(s):  
White Matter ◽  
Brain Tissue ◽  
Optic Neuropathy ◽  
Gliomatosis Cerebri ◽  
Illustrative Case ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
White Matter Changes ◽  
Diffuse White Matter ◽  
Hereditary Optic Neuropathy

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.

scholarly journals Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features

2019 ◽  
Vol 5 (4) ◽  
pp. e345 ◽  
Author(s):  
Amin Ziaei ◽  
Xiaohong Xu ◽  
Leila Dehghani ◽  
Carine Bonnard ◽  
Andreas Zellner ◽  
...  
Keyword(s):  
White Matter ◽  
Novel Mutation ◽  
Clinical Manifestations ◽  
Memory Loss ◽  
White Matter Lesions ◽  
Homozygosity Mapping ◽  
Site Directed Mutagenesis ◽  
Loss Of Function ◽  
Diffuse White Matter ◽  
Clinical Consequences

ObjectiveTo investigate the possible involvement of germline mutations in a neurologic condition involving diffuse white matter lesions.MethodsThe patients were 3 siblings born to healthy parents. We performed homozygosity mapping, whole-exome sequencing, site-directed mutagenesis, and immunoblotting.ResultsAll 3 patients showed clinical manifestations of ataxia, behavioral and mood changes, premature hair loss, memory loss, and lower back pain. In addition, they presented with inflammatory-like features and recurrent rhinitis. MRI showed abnormal diffuse demyelination lesions in the brain and myelitis in the spinal cord. We identified an insertion in high-temperature requirement A (HTRA1), which showed complete segregation in the pedigree. Functional analysis showed the mutation to affect stability and secretion of truncated protein.ConclusionsThe patients' clinical manifestations are consistent with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL; OMIM #600142), which is known to be caused by HTRA1 mutations. Because some aspects of the clinical presentation deviate from those reported for CARASIL, our study expands the spectrum of clinical consequences of loss-of-function mutations in HTRA1.

scholarly journals Multiple Mitochondrial Dysfunctions Syndrome 4 Due to ISCA2 Gene Defects: A Review

2019 ◽  
Vol 6 ◽  
pp. 2329048X1984737 ◽  
Author(s):  
Majid Alfadhel
Keyword(s):  
White Matter ◽  
Magnetic Resonance ◽  
High Plasma ◽  
Resonance Spectroscopy ◽  
Mitochondrial Dysfunctions ◽  
Disease Phenotypes ◽  
Diffuse White Matter ◽  
Gene Defects ◽  
Biallelic Mutations ◽  
Elevated Lactate

Multiple mitochondrial dysfunctions syndrome 4, caused by ISCA2 gene defects (OMIM #616370), was first described by Al-Hassnan et al in 2015. To date, 20 cases have been reported: 13 females and 7 males from 18 different families. All cases are from Saudi Arabia except those from one Italian family. Typically, the patients have normal antenatal and birth history and attain normal development initially. Rapid deterioration occurs between 2 and 7 months of age, with the triad of neurodevelopmental regression, optic atrophy with nystagmus, and diffuse white matter disease. Magnetic resonance imaging findings include 75% of patients have cerebellar white matter abnormalities, and the spinal cord was affected in 55%. Magnetic resonance spectroscopy showed elevated glycine peaks in 2 (10%) cases and elevated lactate peaks in 5 (25%) cases. Biochemical abnormalities include high cerebrospinal fluid glycine and lactate and high plasma glycine and lactate, but these findings were not consistent. Diagnosis is based on the detection of biallelic mutations in the ISCA2 gene. To date, no curative treatment has been discovered, and disease management is exclusively supportive. In this report, the authors review the published cases of ISCA2 gene defects and retrospectively characterize disease phenotypes, the affected biochemical pathways, neuroradiological abnormalities, diagnosis, genetics, and treatment.

scholarly journals Spectrum Of White Matter Changes In Ischemic Lesions

2021 ◽  
Vol 48 (s2) ◽  
pp. S9-S9
Author(s):  
Murad Alturkustani ◽  
Lee -Cyn Ang
Keyword(s):  
White Matter ◽  
Cerebral Ischemia ◽  
Cell Loss ◽  
Large Vessel ◽  
Small Vessel ◽  
List Type ◽  
Large Vessel Occlusion ◽  
Vessel Occlusion ◽  
White Matter Changes ◽  
Morphological Studies

Morphological studies on cerebral ischemia concentrate mainly on the grey matter and white matter changes are regarded as secondary or overlapping injuries. Immunohistochemical (IHC) studies to highlight the combination of various cellular changes in ischemic white matter but have not well documented. We selected 11 archival cases of 3 different ischemic processes (i.e. large vessel occlusion, small vessel occlusion, and hypoperfusion) with survival period range 2-35 days from the ischemic event. The white matter was examined using HE-LFB histochemistry, APP, GFAP, and HLA-DR immunostains focusing on myelin, axonal, astrocytic and microglial changes respectively. The various white matter changes are probably reflective of the different mechanism, duration, severity and extent of ischemia. The APP-IHC shows patchy axonal expression, swelling, and finally complete axonal loss. HLADR-IHC highlights early microglial injuries (fragmentation of processes), complete cell loss, and subsequent replacement by cells of macrophage phenotype. Surrounding the ischemic areas are reactive microglia. Astrocytic changes range from fragmentation of processes (clasmatodendrosis) to different stages of cell loss. Astrocytic swelling tends to occur with cerebral edema. Large vessel occlusion results in complete tissue loss while in small vessel disease the damage is more selective. The injury is generally more subtle in hypoperfusion but can be pronounced focally. Our study has documented the spectrum of white matter injury in different scenarios of cerebral ischemia.Learning ObjectiveDescribe the cellular and immunohistochemical changes in the ischemic white matter

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