en Medicine گزارش مورد Case report <div style="text-align: justify;"><span style="font-size:11pt"><span style="line-height:200%"><span sans-serif="" style="font-family:Calibri,"><b><span style="font-size:12.0pt"><span style="line-height:200%"><span new="" roman="" style="font-family:" times="">Background:</span></span></span></b><span style="font-size:12.0pt"><span style="line-height:200%"><span new="" roman="" style="font-family:" times=""> Metachromatic leukodystrophy (MLD) is an autosomal recessive neurodegenerative disease, with an estimated prevalence rate of 1 per 40,000 to 160,000 worldwide. Progressive alteration in motor and cognitive functions is the most common clinical presentation. Late infantile MLD is the most common form of the disease that presents with a progressive decrease in visual acuity, impaired swallowing, muscle rigidity, seizures, and developmental delays. We herein present a rare case of late infantile MLD in a </span></span></span><span style="font-size:12.0pt"><span style="line-height:200%"><span new="" roman="" style="font-family:" times="">four-and-half-year-old male patient presenting with gradually-onset </span></span></span><span new="" roman="" style="font-family:" times="">paraplegia</span><span style="font-size:12.0pt"><span style="line-height:200%"><span new="" roman="" style="font-family:" times="">.</span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:200%"><span sans-serif="" style="font-family:Calibri,"><b><span style="font-size:12.0pt"><span style="line-height:200%"><span new="" roman="" style="font-family:" times="">Case description:</span></span></span></b> <span style="font-size:12.0pt"><span style="line-height:200%"><span new="" roman="" style="font-family:" times="">The patient had normal growth and neurodevelopmental pattern until 15 months of age. Afterward, he had a gradually increasing abnormality in gate and finally became paralyzed since the age of three years. The patient was also suffering from dysphagia, bilateral ptosis, and bad temperament. Normal metabolic test, myopathies, and brain MRI findings led to the diagnosis of MLD with gradually-onset paraplegia.</span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:200%"><span sans-serif="" style="font-family:Calibri,"><b><span style="font-size:12.0pt"><span style="line-height:200%"><span new="" roman="" style="font-family:" times="">Conclusion: </span></span></span></b><span style="font-size:12.0pt"><span style="line-height:200%"><span new="" roman="" style="font-family:" times="">Generally, early diagnosis of MLD may increase the chance of recovery from the disease. We suggest considering MLD in patients suffering from behavioral, visual, and motor regressions, especially those with normal metabolic tests.</span></span></span></span></span></span></div> Lysosomal storage diseases, Metachromatic leukodystrophy, Demyelinating disease, Neurodegenerative disease, Late infantile MLD 32 36 http://jcbr.goums.ac.ir/browse.php?a_code=A-10-207-8&slc_lang=en&sid=1 Seyed Ahmad Hosseini سید احمد حسینی parnianah@yahoo.com 10031947532846003808 10031947532846003808 No Neonatal & Children's Health Research Center , Golestan University of Medical Sciences, Gorgan , Iran Sara Rahafard سارا رهافرد dr.rahafrd@gmail.com 10031947532846003809 10031947532846003809 Yes Neonatal & Children's Health Research Center , Golestan University of Medical Sciences, Gorgan , Iran Alireza Kia علیرضا کیا siakia2000@yahoo.com 10031947532846003810 10031947532846003810 No Mehregan Imaging Centre , Gorgan , Iran