Authors :
Dr.Rohit Kukade; Dr Sushant Mane; Dr. Onkar Suryavanshi; Dr. Farheena Ansari
Volume/Issue :
Volume 8 - 2023, Issue 4 - April
Google Scholar :
https://bit.ly/3TmGbDi
Scribd :
https://bit.ly/3WrSY98
DOI :
https://doi.org/10.5281/zenodo.8282224
Abstract :
Metachromatic leukodystrophy (MLD), also
called arylsulfatase A deficiency (ARS-A) which is a rare
demyelinating disease (prevalence 1:40,000, presents
with neurological and psychiatric symptoms. Clinical
assessment is difficult, due to nonspecific signs and
symptoms. We report a case of a 7-year-old male child
who is born of 3-rd degree consanguineous marriage
with normal developmental milestones up to 3.5 years of
age presenting with complaints of progressive
impairment of walking over 3.5 years. Juvenile form of
MLD was diagnosed by typical history, neuroimaging and
confirmed by Clinical Exome Sequencing.
Metachromatic leukodystrophy (MLD), also
called arylsulfatase A deficiency (ARS-A) which is a rare
demyelinating disease (prevalence 1:40,000, presents
with neurological and psychiatric symptoms. Clinical
assessment is difficult, due to nonspecific signs and
symptoms. We report a case of a 7-year-old male child
who is born of 3-rd degree consanguineous marriage
with normal developmental milestones up to 3.5 years of
age presenting with complaints of progressive
impairment of walking over 3.5 years. Juvenile form of
MLD was diagnosed by typical history, neuroimaging and
confirmed by Clinical Exome Sequencing.