Clinical, Pathological and Imaging findings of Giant Axonal Neuropathy (GAN): report from India with review of literature and differential diagnosis
Keywords:
frizzy hair, giant axons, neurodegneration
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.
Downloads
Download data is not yet available.
References
1. Asbury AK, Gale MK, Cox SC, Baringer JR, Berg BO. Giant axonal neuropathy--a unique case with segmental neurofilamentous masses. Acta Neuropathol. 1972; 20:237-47. [PubMed]
2. Berg BO, Rosenberg SH, Asbury AK. Giant axonal neuropathy. Pediatrics. 1972 ;49:894-9. [PubMed]
3. Carpenter S, Karpati G, Andermann F, Gold R. Giant axonal neuropathy a clinically and morphologically distinct neurological disease. Arch Neurol 1974; 31:312-6. [PubMed]
4. Demir E, Bomont P, Erdem S, Cavalier L, Demirci M, Kose G. Giant axonal neuropathy: clinical and genetic study in six cases. J Neurol Neurosurg Psychiatry. 2005 ;76:825-32. [PubMed]
5. Vijaykumar K, Bindu PS, Taly AB, Mahadevan A, Bharath RD, Gayathri N. Giant axonal neuropathy. J Child Neurol. 2015 ;30:912-5. [PubMed]
6. Kamate M, Ramakrishna S, Kambali S, Mahadevan A. Giant axonal neuropathy: a rare inherited neuropathy with simple clinical clues. BMJ Case Rep. 2014 Sep 12;2014. [PubMed]
7. Ravishankar S, Goel G, Rautenstrauss CP, Nalini A. Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies. Neurol India. 2009 ;57(2):181-4. [PubMed]
8. Erol I, Alehan F, Alkan O, Bruno C. Involvement of the globus pallidus in giant axonal neuropathy. Pediatr Neurol. 2012 Nov;47(5):382-4. [PubMed]
9. Bethany L. Johnson-Kerner, Lisa Roth, J. Palmer Greene, Hynek Wichterle, Douglas M. Sproule. Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis. Muscle and Neve 2014; 50; 467–76.
10. Houlden H, Groves M, Miedzybrodzka Z, Roper H, Willis T, Winer J, Cole G, Reilly MM. New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy. J Neurol Neurosurg Psychiatry. 2007 Nov;78(11):1267-70.
11. Kumar K, Barre P, Nigro M, Jones MZ. Giant axonal neuropathy: clinical, electrophysiologic, and neuropathologic features in two siblings. J Child Neurol 1990; 5:229–34.
12. Roth LA, Johnson-Kerner BL, Marra JD, LaMarca NH, Sproule DM. The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy. Neuromuscul Disord. 2014 Jan;24(1):48-55.
13. Hoffman WH, Carroll JE, Perry GY, Hartlage PL, Kaminer SJ, Flowers NC, et al; Giant axonal neuropathy in a child with insulin-dependent diabetes mellitus. J Child Neurol 1995; 10:250–3. [PubMed]
14. Takebe Y, Koide N, Takahashi G. Giant axonal neuropathy: report of two siblings with endocrinological and histological studies. Neuro-pediatrics 1981; 12:392–404.
15. Ionasescu V, Searby C, Rubenstein P, Sandra A, Cancilla P, Robillard J. Giant axonal neuropathy: normal protein composition of neurofilaments. J Neurol Neurosurg Psychiatry 1983; 46:551–4.
2. Berg BO, Rosenberg SH, Asbury AK. Giant axonal neuropathy. Pediatrics. 1972 ;49:894-9. [PubMed]
3. Carpenter S, Karpati G, Andermann F, Gold R. Giant axonal neuropathy a clinically and morphologically distinct neurological disease. Arch Neurol 1974; 31:312-6. [PubMed]
4. Demir E, Bomont P, Erdem S, Cavalier L, Demirci M, Kose G. Giant axonal neuropathy: clinical and genetic study in six cases. J Neurol Neurosurg Psychiatry. 2005 ;76:825-32. [PubMed]
5. Vijaykumar K, Bindu PS, Taly AB, Mahadevan A, Bharath RD, Gayathri N. Giant axonal neuropathy. J Child Neurol. 2015 ;30:912-5. [PubMed]
6. Kamate M, Ramakrishna S, Kambali S, Mahadevan A. Giant axonal neuropathy: a rare inherited neuropathy with simple clinical clues. BMJ Case Rep. 2014 Sep 12;2014. [PubMed]
7. Ravishankar S, Goel G, Rautenstrauss CP, Nalini A. Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies. Neurol India. 2009 ;57(2):181-4. [PubMed]
8. Erol I, Alehan F, Alkan O, Bruno C. Involvement of the globus pallidus in giant axonal neuropathy. Pediatr Neurol. 2012 Nov;47(5):382-4. [PubMed]
9. Bethany L. Johnson-Kerner, Lisa Roth, J. Palmer Greene, Hynek Wichterle, Douglas M. Sproule. Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis. Muscle and Neve 2014; 50; 467–76.
10. Houlden H, Groves M, Miedzybrodzka Z, Roper H, Willis T, Winer J, Cole G, Reilly MM. New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy. J Neurol Neurosurg Psychiatry. 2007 Nov;78(11):1267-70.
11. Kumar K, Barre P, Nigro M, Jones MZ. Giant axonal neuropathy: clinical, electrophysiologic, and neuropathologic features in two siblings. J Child Neurol 1990; 5:229–34.
12. Roth LA, Johnson-Kerner BL, Marra JD, LaMarca NH, Sproule DM. The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy. Neuromuscul Disord. 2014 Jan;24(1):48-55.
13. Hoffman WH, Carroll JE, Perry GY, Hartlage PL, Kaminer SJ, Flowers NC, et al; Giant axonal neuropathy in a child with insulin-dependent diabetes mellitus. J Child Neurol 1995; 10:250–3. [PubMed]
14. Takebe Y, Koide N, Takahashi G. Giant axonal neuropathy: report of two siblings with endocrinological and histological studies. Neuro-pediatrics 1981; 12:392–404.
15. Ionasescu V, Searby C, Rubenstein P, Sandra A, Cancilla P, Robillard J. Giant axonal neuropathy: normal protein composition of neurofilaments. J Neurol Neurosurg Psychiatry 1983; 46:551–4.
CITATION
DOI: 10.17511/ijpr.2017.i01.09
Published: 2017-01-31
How to Cite
Dr. Shaik Afsar Pasha, Dr. D. Ankamma Rao, Dr. A. Padmaja, Dr. B. Anil, & Dr.Anitha Mahadevan. (2017). Clinical, Pathological and Imaging findings of Giant Axonal Neuropathy (GAN): report from India with review of literature and differential diagnosis. Pediatric Review: International Journal of Pediatric Research, 4(1), 42-46. https://doi.org/10.17511/ijpr.2017.i01.09
Section
Case Report
Copyright (c) 2017 Author (s). Published by Siddharth Health Research and Social Welfare Society
This work is licensed under a Creative Commons Attribution 4.0 International License.
OAI - Open Archives Initiative
