Study Results
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Basic Information
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NOT_YET_RECRUITING
40 participants
OBSERVATIONAL
2025-01-31
2026-12-31
Brief Summary
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Therefore, taking into consideration specific MRI findings, we aim to highlight the potential of MRI to predict the diagnosis of pediatric inherited neurodegenerative diseases.
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Detailed Description
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Inborn errors of metabolism are uncommon, which leads to a lack of experience for most neuroradiologists to diagnose these disorders easily. Moreover, most of these disorders manifest in nonspecific manner, creating a diagnostic difficulty for pediatricians, neurologists, and geneticists .
Clinical presentation may be confusing and potentially lead to a delay in the diagnosis and treatment. Incidence of these disorders may vary from one region to another, being higher in communities with consanguineous marriages, ranging from 1.2 to 2 per 100,000 live births. Most exhibit an autosomal recessive mode of inheritance and fewer exhibit an X-linked mode of inheritance.
Multiple methods can be used to classify neurometabolic diseases according to their clinical presentation, biochemical features, impacted cellular organelle, or involved location of the brain.
As a non-invasive means, neuroimaging approaches play a major role in increasing diagnostic accuracy and patient follow-up in IEM by assessing the timing, degree, reversibility, and brain injury.
Imaging based classification includes leukodystrophy (primary involvement of white matter due to genetic abnormality), leukoencephalopathy (secondary involvement of white matter either due to genetic or acquired systemic disorder), poliodystrophy (predominant involvement of grey matter), and pandystrophy (mixed involvement of both white and grey matter).
White matter of the central nervous system is usually affected due to many pathological processes such as delayed myelination (myelin maturation delayed for expected age), hypomyelination (scarcity of myelin or arrest in myelination process), dysmyelination (deposition of abnormally composed fragile myelin), demyelination (secondary loss of myelin that may have been previously normal) and myelinopathy (vacuolation due to deranged brain iron and water hemostasis).
The preferred method for evaluating pediatric inherited neurodegenerative disorders is magnetic resonance imaging (MRI). Examining MRI patterns and clinical indicators aids in narrowing the differential and customizing further laboratory (focused metabolomics) or genetic research.
Magnetic resonance imaging (MRI) can be useful and even crucial for prompt treatment before the receipt of expensive and time-consuming results from genetic or biochemical tests.
Conditions
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Study Design
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COHORT
PROSPECTIVE
Interventions
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MRI
Magnetic Resonance Imaging in recognition of pediatric neurodegenerative disease patterns
Eligibility Criteria
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Inclusion Criteria
* Patients known to have inherited neurodegenerative diseases under follow-up.
Exclusion Criteria
18 Years
ALL
No
Sponsors
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Sohag University
OTHER
Responsible Party
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Yasmin Asem Abulelwafa
assisstant lecturer
Locations
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Sohag University
Sohag, Sohag Governorate, Egypt
Countries
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Central Contacts
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Hisham Amein Yousef, Assistant professor
Role: CONTACT
Facility Contacts
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Hisham Amein Yousef, Assistant professor
Role: backup
Nahla Mohamed Ali Hasan, professor
Role: backup
Ahmed Adel Hasan El Beheiry, Assistant professor
Role: backup
References
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van der Knaap MS, Schiffmann R, Mochel F, Wolf NI. Diagnosis, prognosis, and treatment of leukodystrophies. Lancet Neurol. 2019 Oct;18(10):962-972. doi: 10.1016/S1474-4422(19)30143-7. Epub 2019 Jul 12.
Datar R, Prasad AN, Tay KY, Rupar CA, Ohorodnyk P, Miller M, Prasad C. Magnetic resonance imaging in the diagnosis of white matter signal abnormalities. Neuroradiol J. 2018 Aug;31(4):362-371. doi: 10.1177/1971400918764016. Epub 2018 Mar 8.
Loftus JR, Puri S, Meyers SP. Multimodality imaging of neurodegenerative disorders with a focus on multiparametric magnetic resonance and molecular imaging. Insights Imaging. 2023 Jan 16;14(1):8. doi: 10.1186/s13244-022-01358-6.
Lim YT, Mankad K, Kinali M, Tan AP. Neuroimaging Spectrum of Inherited Neurotransmitter Disorders. Neuropediatrics. 2020 Feb;51(1):6-21. doi: 10.1055/s-0039-1698422. Epub 2019 Oct 21.
Lai LM, Gropman AL, Whitehead MT. MR Neuroimaging in Pediatric Inborn Errors of Metabolism. Diagnostics (Basel). 2022 Mar 30;12(4):861. doi: 10.3390/diagnostics12040861.
Alamri A, Aljadhai YI, Alrashed A, Alfheed B, Abdelmoaty R, Alenazi S, Alhashim A, Benini R. Identifying Clinical Clues in Children With Global Developmental Delay / Intellectual Disability With Abnormal Brain Magnetic Resonance Imaging (MRI). J Child Neurol. 2021 May;36(6):432-439. doi: 10.1177/0883073820977330. Epub 2020 Dec 9.
Soni N, Ora M, Bathla G, Nagaraj C, Boles Ponto LL, Graham MM, Saini J, Menda Y. Multiparametric magnetic resonance imaging and positron emission tomography findings in neurodegenerative diseases: Current status and future directions. Neuroradiol J. 2021 Aug;34(4):263-288. doi: 10.1177/1971400921998968. Epub 2021 Mar 5.
Wenger KJ, Koldijk CE, Hattingen E, Porto L, Kurre W. Characterization of MRI White Matter Signal Abnormalities in the Pediatric Population. Children (Basel). 2023 Jan 24;10(2):206. doi: 10.3390/children10020206.
Al Orf A, Waheed KB, Ali EM, Muhammad AK, Al Zahrani FM, Seth SA, Al Jubair NN, Harisi HS, Arulanantham ZJ. Inherited paediatric neurometabolic disorders, can brain magnetic resonance imaging predict? Neurosciences (Riyadh). 2020 Oct;25(5):392-398. doi: 10.17712/nsj.2020.5.20200072.
Aksoy DO, Alkan A. Neurometabolic Diseases in Children: Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy Features. Curr Med Imaging Rev. 2019;15(3):255-268. doi: 10.2174/1573405613666171123152451.
Other Identifiers
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MRI in neurodegenerative
Identifier Type: -
Identifier Source: org_study_id
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