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Late infantile metachromatic leukodystrophy in a two-year-old boy: A case report
Jillalla Narsing Rao1, Swathi Chacham2, Uppin Narayan Reddy3, Janampally Ravikiran4, S. Pratap Rao1, Battula Sugunakar Reddy5
1MD, Pediatrics, Professor, Department of Pediatrics, Princess Esra Hospital, Deccan College of Medical Sciences, Hyderabad, Telangana, India.
2MD, Pediatrics, DM, Neonatology (from PGIMER), Assistant Professor, Department of Pediatrics, Princess Esra Hospital, Deccan College of Medical Sciences, Hyderabad, Telangana, India.
3MD, Pediatrics, Professor and Head, Department of Pediatrics Princess Esra Hospital, Deccan College of Medical Sciences, Hyderabad, Telangana, India.
4MBBS, (MD, Pediatrics), Junior Resident, Department of Pediatrics, Princess Esra Hospital, Deccan College of Medical Sciences, Hyderabad, Telangana, India.
5MD, Pediatrics, Assistant Professor, Department of Pediatrics Princess Esra Hospital, Deccan College of Medical Sciences, Hyderabad, Telangana, India.

doi:10.5348/ijcri-201540-CR-10501

Address correspondence to:
Janampally Ravikiran
Office Address: Princess Esra Hospital, Deccan College of Medical Sciences, Hyderabad, Telangana, India.
Residence (Mailing Address): 9-7-72/1/1,MaruthiNagar,SantoshNagar,Behind Yadagiri Theater, Hyderabad,Telangana, India. Postal Code: 500059
Phone:+919985164888

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How to cite this article
Rao JN, Chacham S, Reddy UN, Ravikiran J, Rao SP, Reddy BS. Late infantile metachromatic leukodystrophy in a two-year-old boy: A case report. Int J Case Rep Images 2015;6(4):228–232.


Abstract
Introduction: Metachromatic leukodystrophy (MLD) occurs due to cerebroside sulfatide accumulation in the extraneural and neural tissues. Arylsulfatase A (ARSA) enzyme deficiency leads to progressive focal or generalized demyelination. This rare disorder involves both central and peripheral nervous system.
Case Report: We report a two-year-old boy, born of consanguineous marriage presenting with recurrent seizures from 13 months of age, followed by regression of milestones and spasticity from 15 months of age. Neurodegenerative disorder was considered initially and the child underwent neuroimaging followed by enzyme level assay. Magnetic resonance imaging scan (MRI) of brain revealed demyelination involving both cerebral cortex in the periventricular white matter with sparing of subcortical 'u' fibers and tigroid appearances /leopard skin sign, hallmark of metachromatic leukodystrophy. Normal β-galactosidase enzyme activity along with undetectable (ARSA) enzyme levels confirmed the diagnosis of late infantile variant of metachromatic leukodystrophy.
Conclusion: A two-year-old boy presented with recurrent, generalized seizures, regression of milestones along with characteristic MRI findings and untraceable ARSA activity suggesting late infantile metachromatic leukodystrophy.

Keywords: Arylsulfatase deficiency, Degenerative disorder, Infantile, Metachromatic leukodystrophy


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Author Contributions
Jillalla Narsing Rao – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Swathi Chacham – Analysis and interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Uppin Narayan Reddy – Analysis and interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Janampally Ravikiran – Analysis and interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
S. Pratap Rao – Analysis and interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Battula Sugunakar Reddy – Analysis and interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Guarantor of submission
The corresponding author is the guarantor of submission.
Source of support
None
Conflict of interest
Authors declare no conflict of interest.
Copyright
© 2015 Jillalla Narsing Rao et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.



About The Authors

Jillalla Narsing Rao is MD Pediatrics, Professor, Department of Pediatrics, Princess Esra Hospital, Deccan College of Medical Sciences, Hyderabad, Telangana, India. He has published three research papers as a co-author and four as a primary author and worked about 16 case reports (as a co-authors).



Swathi Chacham is MD Pediatrics, DM Neonatology (PGIMER, Chandigarh), Associate Professor, Department of Pediatrics, Princess Esra Hospital, Deccan College of Medical Sciences, Hyderabad, Telangana, India. Published 4 research papers as co-author. 4 primary author publications and worked about 22-24 case reports (as a co-authors).



Uppin Narayan Reddy is MD Pediatrics, Professor and Head, Department of Pediatrics, Princess Esra Hospital, Deccan College of Medical Sciences, Hyderabad, Telangana, India. He has published four research papers as primary author and five primary author publications and worked about 22-24 case reports (as a co-authors).



Janampally Ravikiran is Junior Resident, Department of Pediatrics, Princess Esra Hospital, Deccan College of Medical Sciences, Hyderabad, Telangana, India. MBBS from Deccan College of Medical Sciences, Hyderabad, Telangana, India. Doing (MD) from Deccan College of Medical Sciences, Hyderabad, Telangana, India. He was a coauthor in one research paper, case report around six as a co-author and one primary author. His research intrests include intravenous pulmosil effect in PPHN as a study, retro study-developmental delay as per the milestones of all high risk neonates after long tern ventilatory support. He inspires to be DM neonatology /cardiology in future.



S. Pratap Rao is Pediatrics, Professor, Department of Pediatrics, Princess Esra Hospital, Deccan College of Medical Sciences, Hyderabad, Telangana, India.



Battula Sugunakar Reddy is MD, Pediatrics, Assistant Professor, Department of Pediatrics Princess Esra Hospital, Deccan College of Medical Sciences, Hyderabad, Telangana, India.