Stagger along the Corpus Callosum – A Rare form of Adult Metachromatic Leukodystrophy
Prashant Amba1, Vinny Wilson2, Bharat Hosur1
1 Department of Radiodiagnosis, Armed Forces Medical College, Pune, Maharashtra, India
2 Department of Internal Medicine, Armed Forces Medical College, Pune, Maharashtra, India
Correspondence Address:
Bharat Hosur
Department of Radiodiagnosis, Armed Forces Medical College, Pune, Maharashtra - 411 040
India
Source of Support: None, Conflict of Interest: None
DOI: 10.4103/0028-3886.383822
A 44-year-old female presented with insidious onset, nonprogressive gait disturbance with mild lower limb stiffness of 2 months duration. No history of injury, vision abnormality, weakness of limbs, or loss of sensations was evident. Headache, seizures, and alcohol or substance abuse were also absent in her history. No focal neurodeficits, abnormal cerebellar signs, or altered tendon jerks were elicited on examination. Routine blood biochemical tests were within normal limits with mildly reduced serum cyanocobalamine (202.5 pg/ml) and normal thiamine levels. Cerebrospinal fluid (CSF) oligoclonal bands were absent with mildly elevated CSF-IgG (46.8mg/l). Her brain magnetic resonance imaging (MRI) [Figure 1] showed confluent callosal and pericallosal T2/Fluid Attenuated Inversion Recovery (FLAIR) hyperintensities (right > left), with some showing perivenular distribution with no involvement of centrum semiovale/subcortical white matter. Diffuse thinning and central gliosis of corpus callosum were also seen, relatively sparing the splenium. No abnormal contrast enhancement, diffusion restriction, or blooming was present. Her genetic testing revealed a compound heterozygous mutation of ARSA gene, indicating metachromatic leukodystrophy (MLD).
Gait disturbances with stride length and cadence reduction can be the presenting features of multiple sclerosis (MS) with pericallosal, perivenular demyelination.[1] Although the linear central callosal gliosis indicates microinfarcts of Susac syndrome, expected associations like retinopathy and sensorineural hearing loss were absent in our case.[2] Corpus callosal volume loss mimicking Marchiafava–Bignami disease (MBD) was also inapt in the absence of thiamine deficiency.[3] Step-wise imaging approach to diffuse white matter hyperintensities is apt for the diagnosis of adult-onset leukodystrophies.[4] Pericallosal, perivenular hyperintensities with callosal atrophy sparing the splenium in an adult MLD are hitherto undescribed to the best of our knowledge.
The patient has provided informed consent for publication of the case.
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The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Abbreviations
MLD – metachromatic leukodystrophy
MS – multiple sclerosis.
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Conflicts of interest
There are no conflicts of interest.
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