Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

Thakkar, Rajvi N.; Patel, Drashti; Kioutchoukova, Ivelina P.; Al-Bahou, Raja; Reddy, Pranith; Foster, Devon T.; Lucke-Wold, Brandon

doi:10.3390/medsci12010007

Medical Sciences

2024

DOI: 10.3390/medsci12010007

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Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

Rajvi N. Thakkar,

Drashti Patel,

Ivelina P. Kioutchoukova

et al.

Abstract: Leukodystrophies, a group of rare demyelinating disorders, mainly affect the CNS. Clinical presentation of different types of leukodystrophies can be nonspecific, and thus, imaging techniques like MRI can be used for a more definitive diagnosis. These diseases are characterized as cerebral lesions with characteristic demyelinating patterns which can be used as differentiating tools. In this review, we talk about these MRI study findings for each leukodystrophy, associated genetics, blood work that can help in … Show more

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Cited by 2 publications

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Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy

Kasapkara,

Civelek Ürey,

Bilginer Gürbüz

et al. 2024

Mol Syndromol

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Introduction: Metachromatic leukodystrophy (MLD) is a rare, demyelinating, autosomal recessive lysosomal storage disease caused by a deficiency in the arylsulfatase A enzyme (ASA), which is encoded by ARSA gene. A lack of ASA activity results in an accumulation of sulfatides in the myelin sheaths of both the central and peripheral nervous systems, leading to developmental and neurocognitive progressive deterioration that can be observed in all age groups. Methods: We present a total of 9 patients with MLD with an average age of 61 months, whose clinical, laboratory and cranial magnetic resonance imaging findings were evaluated, and who underwent an ARSA gene molecular analysis. Results: Of the 9 patients, 7 had the late infantile form of the condition, 2 had the juvenile form, and 3 were identified through family screening. The median age at diagnosis was 30 months (min 3–max 73 months), the mean ASA activity value was 2 nmol/h/mgprt and the median cranial MR imaging severity score was 10 (min 5–max 18). The grey and white matter volumes of all patients, evaluated using volBrain software, were within the normal range. At an average age of 48 months, the late-infantile MLD patients were unable to control any body part. Conclusions: Hematopoietic stem cell transplantation (HSCT), a treatment option for both the juvenile and adult forms of MLD in asymptomatic or early symptomatic patients, was performed on two of the asymptomatic and early symptomatic patients, and post-HSCT ASA activity settled within the normal range and their developmental milestones stabilized. It is important to diagnose MLD in the asymptomatic period and newborn screening can support early diagnosis.

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Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy

Kasapkara,

Civelek Ürey,

Bilginer Gürbüz

et al. 2024

Mol Syndromol

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A rare case of radiologically diagnosed Pelizaeus-Merzbacher\'s disease (PMD) in a female infant

Dharni,

Aggarwal,

Sodhi

et al. 2024

IJN

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Pelizaeus-Merzbacher disease (PMD) is a rare X-linked dysmyelinating disorder caused by mutations in the PLP1 gene. Typically affecting males, PMD can also manifest in females due to skewed X-inactivation. Early diagnosis is crucial for managing the disease, with MRI serving as a potential alternative to genetic testing in resource-limited settings. We report the case of an 11-month-old female infant presenting with regression of developmental milestones. Initially, the infant achieved appropriate milestones but later exhibited impaired motor functions and reduced interest in toys. Routine laboratory tests were normal. MRI revealed bilaterally symmetrical T2/FLAIR hyperintense and T1 hypointense signal alterations in the cerebral white matter and brainstem, suggestive of PMD. Genetic testing was unavailable due to financial constraints. The patient’s two elder sisters, aged 9 and 10, also exhibited neuroregression and were bedridden, hinting at a genetic link. Diagnosis was based on characteristic MRI findings, as genetic testing was inaccessible. Differential diagnoses, including Salla disease and other leukodystrophies, were ruled out via imaging. Management involved a multidisciplinary approach, incorporating play therapy, speech therapy, physiotherapy for spasticity, and behavioral therapy. Parents were counseled on seizure management and potential antiepileptic use. Emerging treatments like stem cell therapy are under investigation. This case underscores the importance of MRI in diagnosing PMD, especially in settings where genetic testing is impractical. We advocate for the use of brain imaging in early diagnosis to improve patient outcomes through timely supportive therapy. Recognizing PMD in females, though rare, is essential for comprehensive care.

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Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

Cited by 2 publications

References 78 publications

Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy

Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy

A rare case of radiologically diagnosed Pelizaeus-Merzbacher\'s disease (PMD) in a female infant

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