J Pediatr Neurol
DOI: 10.1055/s-0038-1666797
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Case Report: A New Spectroscopy Finding in Infantile Neuroaxonal Dystrophy

Andrew Martin
1  Department of Neuroradiology, Royal Hallamshire Hospital, Sheffield and Sheffield Teaching Hospitals, United Kingdom
,
Saharwash Jamali
2  ST4 Paediatric Trainee, Sheffield Children's Hospital, Sheffield, United Kingdom
,
Natasha Redhead
3  Radiology Registrar, Sheffield Teaching Hospitals, Sheffield, United Kingdom
,
Paul Armitage
4  University of Sheffield, Sheffield, United Kingdom
,
Archana Desurkar
5  Department of Paediatric Neurology, Sheffield Children's Hospital NHS FT, Sheffield, United Kingdom
,
Daniel J. A. Connolly
1  Department of Neuroradiology, Royal Hallamshire Hospital, Sheffield and Sheffield Teaching Hospitals, United Kingdom
› Author Affiliations
Further Information

Publication History

13 March 2018

19 May 2018

Publication Date:
29 July 2018 (eFirst)

Abstract

Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive disorder that is associated with developmental delay and regression. A female patient of consanguineous parents presented with gross motor delay at 15 months. She was known to have two paternal uncles who had died with a diagnosis of INAD. Over the next 15 months, she exhibited regression in several domains and following genetic testing was diagnosed with a PLA2G6 mutation in keeping with INAD. The cerebellar vermis demonstrated a significant reduction in the N-acetylaspartate/creatinine (NAA/Cr) ratio of 0.69. This case highlights what we believe to be a new imaging feature of a low NAA/Cr ratio in the cerebellar vermis with normal ratios in the cerebellar hemispheres and basal ganglia in a patient with genetically confirmed diagnosis of INAD.