Clinical, Pathological and Imaging findings of Giant AxonalNeuropathy (GAN): report from India with review of literature anddifferential diagnosis
Journal Title: Pediatric Review: International Journal of Pediatric Research - Year 2017, Vol 4, Issue 1
Abstract
Giant axonal neuropathy is a rare autosomal recessive neuro-degenerative disease with simple clinical clues. We describe an 11 year old boy with progressive difficulty in walking with recurrent falls. On examination he had characteristic frizzy curly hair with axonal motor sensory peripheral neuropathy, proximal myopathy, pyramidal and cerebellar signs. Imaging of brain revealed bilateral symmetrical cerebral and cerebellar white matter changes including brainstem and spinal cord. Sural nerve biopsy revealed giant axons of 50-100 microns with tightly packed neurofilaments.
Authors and Affiliations
Shaik Afsar Pasha, D. Ankamma Rao, A. Padmaja, B. Anil, Anitha Mahadevan
Keywords
Related Articles
- EP ID EP276563
- DOI 10.17511/ijpr.2017.01.09.
- Views 118
- Downloads 0
A prospective seroepidemiologic study on dengue in children in Southeastern Rajasthan, India
Background: In India, dengue epidemics are becoming more frequent (WHO, 2008). The majority of dengue viral infections are self-limiting, but complications may cause high morbidity and mortality. Objectives: To assess th...
Fluid restriction in term neonates with moderate to severe perinatal asphyxia: A randomised controlled trial
Introduction: Management of newborns who suffer perinatal asphyxia is primarily based on supportive management, of which fluid and electrolyte management plays a very important role. We studied the role of restriction of...
Early detection of autism – comparison of two screening tools
Introduction: The aim of the study was comparison of a newly developed test Trivandrum Autism behaviour checklist with gold standard test, CHAT. Method: The present study was done in pediatric OPD (Bundelkhand Medical Co...
Age stratified Seroprevalence of Cytomegalo virus in children
Introduction: Cytomegalovirus seroprevalance in developing countries is found to be high but there is no recent study done in India especially in children. Primary CMV infection is asymptomatic, but the virus remains lat...
Clinical Profile of admitted children with malarial fever: a retrospective study
Introduction: Malaria continues to be a major public health problem in developing country like India. India contributes to 77% of the total malarial cases in Southeast Asia. Objective: The present retrospective study was...