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NEUROIMAGES
Year : 2018  |  Volume : 66  |  Issue : 1  |  Page : 264

Spastic paraparesis with basal ganglia changes: Infantile neuroaxonal dystrophy


Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Date of Web Publication11-Jan-2018

Correspondence Address:
Dr. Pratibha Singhi
Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh - 160 012
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.222887

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How to cite this article:
Kasinathan A, Ahuja CK, Singhi P. Spastic paraparesis with basal ganglia changes: Infantile neuroaxonal dystrophy. Neurol India 2018;66:264

How to cite this URL:
Kasinathan A, Ahuja CK, Singhi P. Spastic paraparesis with basal ganglia changes: Infantile neuroaxonal dystrophy. Neurol India [serial online] 2018 [cited 2019 Apr 23];66:264. Available from: http://www.neurologyindia.com/text.asp?2018/66/1/264/222887




A 4-year old boy presented with progressive difficulty in walking and frequent falls for the past 6 months. He had no difficulty in using the upper limbs. He had a normal neurodevelopmental course in infancy with no features of regression. On examination, the head circumference, higher mental functions, speech, and cranial nerves were normal. Motor examination revealed spasticity in lower limbs with brisk muscle stretch reflexes and a positive Babinski sign. His gait was spastic in nature with additional cerebellar signs.

Magnetic resonance imaging (MRI) of the brain [Figure 1] suggested a diagnosis of infantile neuroaxonal dystrophy. Next generation sequencing revealed a compound heterozygous mutations in exon 7 and 16 of PLA2G6 gene {(chr22:38508565; C>C/T) (chr22:38528930; G>G/A)} in chromosome 22, coding for calcium independent phospholipase A2 enzyme, confirming the diagnosis of infantile neuroaxonal dystrophy.
Figure 1: Axial T2-weighted MRI brain showing bilateral globus pallidi (a) and substantia nigra (b) hypointensity. Note the isointense signal changes in axial T1 weighted images (c), and cerebellar atrophy (d)

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MRI findings of T1 isointensity and T2 hypointensity in globus pallidi are the hallmark features of neurodegeneration with brain iron accumulation (NBIA). The T1 isointensity separates iron accumulation from other minerals such as calcium, copper, and manganese that usually show hyperintense signals.[1] The characteristic cerebellar atrophy with substantia nigra involvement differentiates PLA2G6-associated neurodegeneration from other NBIA disorders.[2] Similar changes in globus pallidi are also seen in intracranial hemorrhage with hemosiderin deposits, human immunodeficiency virus dementia, and multiple sclerosis. However, iron deposits in PLA2G6-associated neurodegeneration are symmetrical and homogenous compared to the variegated appearance in these conditions. MRI pattern recognition of these globus pallidi T2 hypointense and T1 isointense signal changes with cerebellar atrophy will help in suspecting and confirming the diagnosis of infantile neuroaxonal dystrophy.

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  References Top

1.
Kruer MC, Boddaert N, Schneider SA, Houlden H, Bhatia KP, Gregory A, et al. Neuroimaging features of neurodegeneration with brain iron accumulation. AJNR Am J Neuroradiol 2012;33:407-14.  Back to cited text no. 1
    
2.
Hogarth P. Neurodegeneration with brain iron accumulation: Diagnosis and management. J Mov Disord 2015;8:1-13.  Back to cited text no. 2
    


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