NEUROIMAGE Year : 2023  |  Volume : 71  |  Issue : 4  |  Page : 853-854

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

Date of Submission23-May-2023Date of Decision24-May-2023Date of Acceptance24-May-2023Date of Web Publication18-Aug-2023

Correspondence Address:
Bharat Hosur
Department of Radiodiagnosis, Armed Forces Medical College, Pune, Maharashtra - 411 040
India

Source of Support: None, Conflict of Interest: None

Check

DOI: 10.4103/0028-3886.383822

How to cite this article:
Amba P, Wilson V, Hosur B. Stagger along the Corpus Callosum – A Rare form of Adult Metachromatic Leukodystrophy. Neurol India 2023;71:853-4

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).

Figure 1: MRI brain of an adult patient with metachromatic leukodystrophy with the axial T2 (a), FLAIR (b), sagittal FLAIR (d and e), and T1 precontrast (c) and postconstrast (f) images showing confluent callosal and pericallosal nonenhancing asymmetric (right > left) hyperintensities (white arrows). Some of these resemble Dawson's fingers (arrow in e) on the sagittal plane. The homogeneous T2 hyperintensities of the atrophic corpus callosum sparing the splenium (white oval) show linear T1 hypointensities along the septal aspect. MRI = magnetic resonance imaging

Click here to view

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.

Declaration of patient consent

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.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 

  References 
1.Cameron MH, Nilsagard Y. Balance, gait, and falls in multiple sclerosis. Handb Clin Neurol 2018;159:237–50.  
    2.Marrodan M, Fiol MP, Correale J. Susac syndrome: Challenges in the diagnosis and treatment. Brain 2022;145:858–71.  
    3.Hillbom M, Saloheimo P, Fujioka S, Wszolek ZK, Juvela S, Leone MA. Diagnosis and management of Marchiafava-Bignami disease: A review of CT/MRI confirmed cases. J Neurol Neurosurg Psychiatry 2014;85:168–73.  
    4.Resende LL, de Paiva ARB, Kok F, da Costa Leite C, Lucato LT. Adult leukodystrophies: A step-by-step diagnostic approach. RadioGraphics 2019;39:153–68.  
    
  [Figure 1]