|Year : 2020 | Volume
| Issue : 3 | Page : 332-333
Toddler with frequent falls and neuroregression: Imaging clues!
Indar K Sharawat1, Lesa Dawman2, Prateek K Panda1
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
|Date of Submission||03-Jan-2020|
|Date of Acceptance||19-Mar-2020|
|Date of Web Publication||06-Nov-2020|
Dr. Indar K Sharawat
Pediatric Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand.
Source of Support: None, Conflict of Interest: None
| Abstract|| |
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.
Keywords: Aryl sulfatase A, leopard skin pattern, metachromatic leukodystrophy, neuroregression, tigroid skin pattern
|How to cite this article:|
Sharawat IK, Dawman L, Panda PK. Toddler with frequent falls and neuroregression: Imaging clues!. J Pediatr Neurosci 2020;15:332-3
A 3-year-old girl, born to third degree consanguineous parents, presented with history of frequent fall, toe walking, feeding difficulties, dysarthria, and progressive cognitive regression for the past 1 year. There was no history of seizures and any neurological illness in other family members. She was born at term with an uncomplicated delivery. On examination, she was bedridden, had normal head size (50th centile), visual and auditory inattention, optic atrophy, spasticity, exaggerated muscle stretch reflexes, and ankle clonus. Nerve conduction study was unremarkable. Magnetic resonance imaging (MRI) of the brain showed T2-weighted hyperintense signal in corpus callosum, periventricular and deep white matter, and centrum semiovale (leopard skin pattern) [Figure 1]. Her aryl sulfatase-A enzyme levels were markedly reduced (7.8 nmol/h/mg; normal: 58–190 nmol/h/mg), and next-generation sequencing revealed pathogenic missense homozygous variant in ARSA gene, confirming the diagnosis of late-infantile metachromatic leukodystrophy (MLD).
|Figure 1: MRI of the brain of a child with MLD. T2-weighted axial sections (A and B) showed hyperintense signal in periventricular and central white matter (parieto-occipital dominant), centrum semiovale, genu and splenium of the corpus callosum, posterior limb of internal capsule, and partially affected subcortical U fibers. Note the striking leopard skin pattern|
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Late infantile MLD is an autosomal recessively inherited neurodegenerative disorder caused by a deficiency in the enzyme activity of aryl sulfatase-A., It is characterized by symptom onset between 1 and 3 years of age, gait disturbance, frequent fall, toe walking, impaired swallowing and feeding, seizures, progressive neuroregression, decorticate posture, and an early death. MRI in late infantile MLD typically shows involvement of periventricular and deep white matter, cerebellar white matter, corpus callosum, posterior limb of internal capsule, and projection fibers of brain stem. Subcortical U fibers are usually spared in initial stage but can be involved in later stage. The leopard or tigroid skin pattern, formed by radiating stripes (due to relatively spared myelin or lipid storage) with bands of normal signal intensity within the sheet-like white matter abnormality, is a characteristic MRI feature of advanced disease. This pattern has also been described in Krabbe’s disease and Pelizaeus–Merzbacher disease. Recognition of this tigroid or leopard skin pattern on MRI in proper clinical context can serve as a clue to the diagnosis.
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| References|| |
Biffi A, Lucchini G, Rovelli A, Sessa M Metachromatic leukodystrophy: an overview of current and prospective treatments. Bone Marrow Transplant 2008;42(Suppl 2):S2-6.
Gieselmann V Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options. Acta Paediatr 2008;97:15-21.
Gieselmann V, Krägeloh-Mann I Metachromatic leukodystrophy—an update. Neuropediatrics 2010;41:1-6.
Eichler F, Grodd W, Grant E, Sessa M, Biffi A, Bley A, et al
. Metachromatic leukodystrophy: a scoring system for brain MR imaging observations. AJNR Am J Neuroradiol 2009;30:1893-7.
Sharawat IK, Saini AG, Vyas S, Sankhyan N Cystic changes and optic nerve hypertrophy in early infantile neuroregression. Indian J Pediatr 2019;86:863-4.