Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature

Merrill, Steven T.; Nelson, Gary R.; Longo, Nicola; Bonkowsky, Joshua L.

doi:10.1186/s13023-016-0549-1

Cited by 16 publications

(9 citation statements)

References 23 publications

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“…However, screening is done only on high-risk populations [14]. Improved gene sequencing and advances in liquid chromatographytandem mass spectrometry, on the other hand, could lead to the establishment of early neonatal screening [15].…”

Section: Discussionmentioning

confidence: 99%

Canavan Disease: A Case Report

Rayamajhi¹,

Sunuwar²

2022

J Med Healthcare

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Canavan disease is an autosomal recessive leukodystrophy associated with hypotonia, megalencephaly, mental retardation, blindness and spasticity. The biochemical deficiency of aspartoacylase (ASPA) causes CD. Deficiency in ASPA, which hydrolyzes N-acetylaspartate, results in NAA building up to high millimolar amounts in the brain. The hallmarks of the disease are loss of oligodendrocytes and spongy myelin degradation in the CNS. However, it is unclear whether the disease’s pathophysiology is caused by the accumulation of NAA, the absence of NAA-derived acetate, or the absence of any unknown roles of the ASPA enzyme. In this Review, we present an important and timely update on the current and emerging aspects of this neurological disease. Following a brief overview of canavan disease, we discuss current knowledge of neurological findings, pathophysiology, diagnostic approaches, current canavan disease treatment, and gene therapy’s future prospects.

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Section: Discussionmentioning

confidence: 99%

Canavan Disease: A Case Report

Rayamajhi¹,

Sunuwar²

2022

J Med Healthcare

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“…On cerebral imaging, T2 sequences reveal symmetric diffuse hyperintense signal in the cortex and basal ganglia; increased levels of NAA can be detected via magnetic resonance spectroscopy. Radiographic evidence of cytotoxic edema and restricted diffusion has also been reported 76 . The diagnosis of Canavan disease is made with molecular testing and an elevated NAA concentration in the urine with support from clinical and radiographic features.…”

Section: Canavan Diseasementioning

confidence: 96%

Leukodystrophies

Adang¹

2022

CONTINUUM: Lifelong Learning in Neurology

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PURPOSE OF REVIEW: This article reviews the most common leukodystrophies and is focused on diagnosis, clinical features, and emerging therapeutic options.RECENT FINDINGS: In the past decade, the recognition of leukodystrophies has exponentially increased, and now this class includes more than 30 distinct disorders. Classically recognized as progressive and fatal disorders affecting young children, it is now understood that leukodystrophies are associated with an increasing spectrum of neurologic trajectories and can affect all ages. Next-generation sequencing and newborn screening allow the opportunity for the recognition of presymptomatic and atypical cases. These new testing opportunities, in combination with growing numbers of natural history studies and clinical consensus guidelines, have helped improve diagnosis and clinical care. Additionally, a more granular understanding of disease outcomes informs clinical trial design and has led to several recent therapeutic advances. This review summarizes the current understanding of the clinical manifestations of disease and treatment options for the most common leukodystrophies. SUMMARY: As early testing becomes more readily available through next-generation sequencing and newborn screening, neurologists will better understand the true incidence of the leukodystrophies and be able to diagnose children within the therapeutic window. As targeted therapies are developed, it becomes increasingly imperative that this broad spectrum of disorders is recognized and diagnosed. This work summarizes key advances in the leukodystrophy field.

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“…44 In infantile CD, before characteristic findings emerge, cytotoxic edema with restricted diffusion on brain MRI may be observed. 45 Multiple small cysts in white matter predominantly in the posterior regions causing spongy appearance in infantile CD patients have also been reported. 46 In the case of mild/juvenile CD brain, MRI does not display general white matter disease, instead of increased signal intensities in the basal ganglia have been demonstrated in many children with mild/juvenile CD.…”

Section: Neuroimagingmentioning

confidence: 99%

Canavan Disease and Recent Advances

Dirik¹,

Şanlıdağ²,

Dırık³

et al. 2021

Cyprus J Med Sci

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Canavan disease (CD) is a rare autosomal recessively inherited leukodystrophy. The genetic defect related to the aspartoacylase gene. The clinical characteristics of CD include hypotonia, macrocephaly, developmental delay, and visual impairment within the first year of life. There is currently no cure for CD, however, new therapeutic modalities and gene therapy options are under investigation. Possible mechanisms in the pathogenesis include astrocytic edema caused by N-acetyl-L-aspartic acid (NAA) serving as a water pump and diminished acetate that is required for myelin synthesis. The current diagnostic approach to identify CD cases includes the demonstration of increased urinary NAA level, diminished or absence of enzyme activity in cultured skin fibroblasts, the loss of white matter including U-fibers in magnetic resonance (MR) imaging, NAA peak in MR spectroscopy (MRS), and genetic testing, in which more than 70 mutations have been identified. Among these diagnostic approaches, the NAA peak detected with the use of MRS is highly characteristic of CD and is the cornerstone in early diagnosis.

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Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature

Cited by 16 publications

References 23 publications

Canavan Disease: A Case Report

Canavan Disease: A Case Report

Leukodystrophies

Canavan Disease and Recent Advances

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