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

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Canavan disease 32 endocrinologydiseases
leukodystrophy 3 endocrinologydiseases

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Canavan disease 364 12/2016Publication date (pmc-release): 12/2016Publication date (collection): /2016AbstractBackground Canavan disease is a devastating autosomal recessive leukodystrophy leading to spongiform degeneration of the white
Canavan disease 522 leukodystrophy leading to spongiform degeneration of the white matter. There is no cure or treatment for Canavan disease , and disease progression is poorly understood.ResultsWe report a new presentation of a patient found
Canavan disease 647 disease progression is poorly understood.ResultsWe report a new presentation of a patient found to have Canavan disease ; brain magnetic resonance imaging (MRI) revealed white matter cytotoxic edema, indicative of an acute
Canavan disease 851 indicative of an acute active destructive process. We performed a comprehensive review of published cases of Canavan disease reporting brain MRI findings, and found that cytotoxic brain edema is frequently reported in early Canavan
Canavan disease 966 reporting brain MRI findings, and found that cytotoxic brain edema is frequently reported in early Canavan disease .ConclusionsOur results and the literature review support the notion of an acute phase in Canavan disease
Canavan disease 1071 Canavan disease.ConclusionsOur results and the literature review support the notion of an acute phase in Canavan disease progression. These findings suggest that there is a window available for therapeutic intervention and
Canavan disease 1248 available for therapeutic intervention and support the need for early identification of patients with Canavan disease .BackgroundCanavan disease is a devastating autosomal recessive leukodystrophy leading to spongiform
Canavan disease 1274 intervention and support the need for early identification of patients with Canavan disease.Background Canavan disease is a devastating autosomal recessive leukodystrophy leading to spongiform degeneration of the white
Canavan disease 1666 acidemia with elevated levels of NAA present in cerebrospinal fluid, blood, and urine [[4]]. Patients with Canavan disease typically present with developmental delay, focal neurological signs, macrocephaly, and even neurological
Canavan disease 1869 even neurological deterioration in the first year of life [[5]]. There is no cure or treatment for Canavan disease , and disease progression is poorly understood. Magnetic resonance imaging (MRI) of the brain can be
Canavan disease 2355 white matter cytotoxic edema, indicative of an acute active destructive process, who was found to have Canavan disease . Review of the literature suggests that cytotoxic edema is a common finding in early Canavan disease,
Canavan disease 2456 Canavan disease. Review of the literature suggests that cytotoxic edema is a common finding in early Canavan disease , and supports the potential for a therapeutic window of intervention.MethodsA ten-week old boy presented
Canavan disease 4048 [[8]]. Urine organic acids had elevated NAA excretion (>750 mmol NAA/mol creatinine), consistent with Canavan disease . Sequencing of the ASPA gene demonstrated a homozygous p.Ala305Glu (c.914 C > A) point mutation
Canavan disease 4790 determine if cytotoxic edema with diffusion restriction was a common pathophysiological feature of Canavan disease we reviewed cases using PubMed. We identified 81 potentially relevant publications; including our own
Canavan disease 4929 PubMed. We identified 81 potentially relevant publications; including our own report there were 13 Canavan disease patients in whom cytotoxic edema and diffusion restriction was reported (Table 1). The median age of
Canavan disease 5321 head size, one patient was microcephalic, five were normocephalic, and four were macrocephalic.Table 1 Canavan disease patients reported with cytotoxic edemaReferenceGenderAge (months)SeizuresDelayHypotoniaSpasticityMacrocephalyAffected
Canavan disease 6310 2005;15(11):2284–303; d, Srikanth SG, Chandrashekar HS, Nagarajan K et al. Restricted diffusion in Canavan disease . Childs Nerv Syst. 2007;23(4):465–8.; e, Unalp A, Altiok E, Uran N et al. Novel mutation of aspartoacylase
Canavan disease 6466 e, Unalp A, Altiok E, Uran N et al. Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease . J Trop Pediatr. 2008;54(3):208–10.; f, Cakmakci H, Pekcevik Y, Yis U et al. Diagnostic value of proton
Canavan disease 6973 h, Perlman SJ, Mar S. Leukodystrophies. Adv Exp Med Biol. 2012;724:154–71; i, Nguyen HV, Ishak GE. Canavan disease – unusual imaging features in a child with mild clinical presentation. Pediatr Radiol. 2014;45:457–60.;
Canavan disease 7486 cytotoxic edema with corresponding diffusion restriction on brain MRI is more commonly observed in Canavan disease than previously appreciated. Besides our own case, we identified twelve other published reports of Canavan
Canavan disease 7601 than previously appreciated. Besides our own case, we identified twelve other published reports of Canavan disease with diffusion restriction. It is difficult to assess the frequency of diffusion restriction in Canavan
Canavan disease 7713 disease with diffusion restriction. It is difficult to assess the frequency of diffusion restriction in Canavan disease , since many published cases of Canavan disease do not include MRI reports, and diffusion restriction
Canavan disease 7760 to assess the frequency of diffusion restriction in Canavan disease, since many published cases of Canavan disease do not include MRI reports, and diffusion restriction may only be present early in the disease course.
Canavan disease 7960 the disease course. Because diffusion restriction has not been considered as a presenting feature of Canavan disease , patients have sometimes first been evaluated for other non-leukodystrophy causes, e.g., stroke [[9]].
Canavan disease 9136 molecular water pump in neurons [[16]]. These roles of NAA may contribute to the histopathology of Canavan disease , which includes astroglial swelling and intramyelinic edema [[17], [18]], and which may in turn be correlated
Canavan disease 9700 primary cause of the edema.Interest in improved understanding of the pathology and the early diagnosis of Canavan disease has arisen in part because of the potential for new treatments [[20]]. Gene therapy replacement of ASPA
Canavan disease 10030 strategies to target osmotic pressure in Canavan also appear promising [[23]]. However, screening for Canavan disease is only recommended for high-risk groups [[5]], although advances in next-generation sequencing and
Canavan disease 10612 damage, the presence of diffusion restriction shows that at least some of the disease pathology in Canavan disease is occurring post-natally. If a therapy was available it could be instituted as soon as the diagnosis
Canavan disease 10943 show that cytotoxic edema with diffusion restriction on brain MRI is often observed in infant-onset Canavan disease , and if an infant presents with diffusion restriction Canavan disease should be considered in the differential.
Canavan disease 11013 often observed in infant-onset Canavan disease, and if an infant presents with diffusion restriction Canavan disease should be considered in the differential. Our results support the notion of an acute phase in disease
Canavan disease 11284 are related to myelin degeneration [[2], [3]], that NAA levels rise during the first year of life in Canavan disease [[25]], and the possibility for potential treatments [[20], [22], [23]], these findings suggest that
Canavan disease 11521 available for therapeutic intervention and support the need for early identification of patients with Canavan disease
leukodystrophy 417 12/2016Publication date (collection): /2016AbstractBackgroundCanavan disease is a devastating autosomal recessive leukodystrophy leading to spongiform degeneration of the white matter. There is no cure or treatment for Canavan disease,
leukodystrophy 1327 identification of patients with Canavan disease.BackgroundCanavan disease is a devastating autosomal recessive leukodystrophy leading to spongiform degeneration of the white matter [[1]]. Deficient aspartoacylase activity from
leukodystrophy 8036 a presenting feature of Canavan disease, patients have sometimes first been evaluated for other non- leukodystrophy causes, e.g., stroke [[9]]. Further, it is increasing recognized that there is a broader phenotypic

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