Laminar cortical necrosis in mitochondrial disorders

Finsterer, Josef

doi:10.1016/j.clineuro.2009.07.010

Cited by 17 publications

(14 citation statements)

References 41 publications

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“…17, 20, 21 Cortical laminar necrosis is a process typically affecting cortical layers (3 rd and 5 th ) that are highly vulnerable to energy depletion (eg: hypoxia) or high energy demand (eg: status epilepticus). 11, 22, 23 On histology, laminar necrosis exhibits neuronal death and necrosis, followed by macrophage infiltrate and astrogliosis, tissue loss, and cortical atrophy. However, on pathological review of two HIV - PML cases with HCS, we found a histologic pattern that differs from cortical laminar necrosis.…”

Section: Discussionmentioning

confidence: 99%

Hyperintense cortical signal on magnetic resonance imaging reflects focal leukocortical encephalitis and seizure risk in progressive multifocal leukoencephalopathy

Khoury

Alsop

Agnihotri

et al. 2014

Annals of Neurology

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Objective To determine the frequency of hyperintense cortical signal (HCS) on T1-weighted pre-contrast MRI in progressive multifocal leukoencephalopathy (PML) patients, its association with seizure risk and immune reconstitution inflammatory syndrome (IRIS), and its pathologic correlate. Methods We reviewed clinical data including seizure history, presence of IRIS, and MRI scans from PML patients evaluated at our institution between 2003 and 2012. Cases that were diagnosed either by CSF JC Virus (JCV) PCR, brain biopsy or autopsy, and who had MRI images available were included in the analysis (n=49). We characterized pathologic findings in areas of the brain displaying HCS in two patients and compared them with isointense cortex in the same individuals. Results Of 49 patients, 17 (34.7%) had seizures and 30 (61.2%) had HCS adjacent to subcortical PML lesions on MRI. Of the 17 PML patients with seizures, 15 (88.2%) had HCS compared to 15/32 (46.9%) patients without seizures (p= 0.006). HCS was associated with seizure development with a relative risk (RR) of 4.75 (95% confidence interval of 1.2 to 18.5; p=0.006). Of the 20 patients with IRIS, 16 (80.0%) had HCS compared to 14/29 (49.3%) of those without IRIS (p=0.04). On histological examination, HCS areas were associated with striking JCV-associated demyelination of cortical and sub-cortical U-fibers, significant macrophage infiltration and a pronounced reactive gliosis in the deep cortical layers. Interpretation Seizures are a frequent complication in PML. HCS is associated with seizures as well as IRIS, and correlates histologically with JCV focal leukocortical encephalitis (JCV FLE).

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Section: Discussionmentioning

confidence: 99%

Hyperintense cortical signal on magnetic resonance imaging reflects focal leukocortical encephalitis and seizure risk in progressive multifocal leukoencephalopathy

Khoury

Alsop

Agnihotri

et al. 2014

Annals of Neurology

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“…The cumulative incidence for epilepsy 10 years after a diagnosis of multiple sclerosis is reported to be 1.9% [9,10]. Therefore, our patient's seizures of cerebral origin, the initial and main manifestations, do not support a diagnosis of MS. MELAS is reported to be associated with seizures and laminar cortical necrosis [11], but our patient is not likely to have suffered MELAS because brain MRI showed white matter dominant involvement not cortical necrosis. Cerebral vasculitis, which is associated with collagen vascular diseases, Behchet's disease, sarcoidosis and isolated angiitis of the central nervous system, also could be ruled out as the clinical cause because repeated blood and CSF analysis results showed no traces of inflammation throughout the long, 21-year course of her disease.…”

Section: Discussionmentioning

confidence: 94%

Twenty-one-year course of adult-onset Rasmussen's encephalitis and bilateral uveitis: Case report

Kashihara

Ohno

Takahashi

2010

Journal of the Neurological Sciences

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“…Such a standardized screening tool to detect MDs early at patients’ routine visits to the pediatricians would be ideal. However, making the correct diagnosis is exceedingly problematic because of the heterogeneous features of this disorder (17, 18). MD may present at any age, with a spectrum of symptoms and signs, to several medical specialties.…”

Section: Discussionmentioning

confidence: 99%

“…For physicians, confirming the diagnosis of MD is fundamental in planning therapeutic intervention (17, 18). …”

Section: Discussionmentioning

confidence: 99%

Long-term Developmental Trends of Pediatric Mitochondrial Diseases: The Five Stages of Developmental Decline

Eom

Lee

2017

Front. Neurol.

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Mitochondrial diseases (MDs) are a heterogeneous group of progressive multisystem disorders caused by impaired mitochondrial function. This study aimed to evaluate the clinical course and long-term development of 53 pediatric patients with MDs. Developmental function was evaluated at nine time points (two pre-diagnosis, one at diagnosis, and six post-diagnosis), with the developmental quotient (DQ) from the Korean infant and child development test (KICDT) assessing a child’s developmental age (rather than chronological age). Additionally, disease-related clinical variables were reviewed, and clinical progress was determined through observation. Subgroup analyses by epilepsy severity, syndromic diagnosis, diffuse brain atrophy, and clinical rating were performed. The pre- and post-diagnosis results were compared by the paired t-test and Bonferroni correction. The pre-diagnostic, diagnostic, and post-diagnostic evaluations were compared using repeated measures ANOVA. Patients with diffuse brain atrophy at the first pre-diagnostic and second post-diagnostic evaluations showed lower DQs. Compared with patients with a mildly or severely deteriorating clinical course, those with an improving or static clinical course presented higher DQs at the pre-diagnostic and diagnostic evaluations. The age at onset of the first symptom correlated positively with the DQ post-diagnosis. Follow-up revealed consistent patterns of significant developmental deterioration during the lead time to diagnosis, with no significant decline post-diagnosis. The DQ is a feasible predictor and a measure of long-term functional development in children with MD. Early initiation of treatment may minimize developmental regression.

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Laminar cortical necrosis in mitochondrial disorders

Cited by 17 publications

References 41 publications

Hyperintense cortical signal on magnetic resonance imaging reflects focal leukocortical encephalitis and seizure risk in progressive multifocal leukoencephalopathy

Hyperintense cortical signal on magnetic resonance imaging reflects focal leukocortical encephalitis and seizure risk in progressive multifocal leukoencephalopathy

Twenty-one-year course of adult-onset Rasmussen's encephalitis and bilateral uveitis: Case report

Long-term Developmental Trends of Pediatric Mitochondrial Diseases: The Five Stages of Developmental Decline

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