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

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Case Report

Author Details : Tania Dharni*, Sandeep Aggarwal, Manmeet Kaur Sodhi, Vaibhav Oberoi, Pinki Meena, Asgar Ali, Nilesh Patidar, Ratul Khanna

Volume : 10, Issue : 3, Year : 2024

Article Page : 171-173

https://doi.org/10.18231/j.ijn.2024.037

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Abstract

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.
 

Keywords: Pelizaeus­Merzbacher disease, Dysmyelination, Neurodevelopmental delay, Genetic Testing

How to cite : Dharni T, Aggarwal S, Sodhi M K, Oberoi V, Meena P, Ali A, Patidar N, Khanna R, A rare case of radiologically diagnosed Pelizaeus-Merzbacher\'s disease (PMD) in a female infant. IP Indian J Neurosci 2024;10(3):171-173

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