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 NEUROIMAGING
Year : 2020  |  Volume : 15  |  Issue : 3  |  Page : 332-333

Toddler with frequent falls and neuroregression: Imaging clues!


1 Pediatric Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
2 Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Correspondence Address:
Dr. Indar K Sharawat
Pediatric Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand.
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jpn.JPN_6_20

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Late infantile metachromatic leukodystrophy is an autosomal recessive disorder caused by a deficiency in the enzyme activity of Aryl sulfatase-A. The classical presentation is characterized by gait disturbance, frequent fall, toe walking, impaired swallowing and feeding, seizures, progressive neuroregression, decorticate posture and early death. Here we report a toddler who presented with frequent falls and cognitive regression. Magnetic resonance imaging (MRI) showed a striking leopard skin pattern. Recognition of this pattern on MRI in proper clinical context can serve as a clue to the diagnosis.






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