Acute cerebellar ataxia as the first manifestation of Imerslund-Gräsbeck syndrome
Iranian Journal of Child Neurology,
Vol. 15 No. 4 (2021),
1 October 2021
https://doi.org/10.22037/ijcn.v15i4.27482
Abstract
Imerslund-Grasbeck syndrome is a rare condition caused by Vitamin B12 deficiency and proteinuria. In this article, we reported a 10-year-old girl with imbalance and urinary incontinence. This case had cerebellar ataxia as the first manifestation. The disequilibrium had been progressed gradually wihin 3 weeks and was consistent with the symptoms of cerebellar involvement and urinary incontinence. Brain and cervicothoraco lumbar MRI was normal. In labratoary examinations, in addition to macrocytic anemia the patient had elevated lactate dehydrogenase (4775) so the possibility of malignancy raised, therefore bone marrow aspiration performed, In bone marrow examination hypercellular marrow with megaloblastic changes observed. This data proved megaloblastic anemia. Investigation of serum levels of vitamin B12 showed it was lower than normal range and the patient had significant proteinuria with normal nephrologic investigations. gasterointestinal tract study showed no evidence of serious problem and metabolic studies were normal . Finally, based on datas, Imerslund-Gräsbeck syndrome was recognized. Patient treated by Vitamin B-12 Injection and it led to improvement of balance, so that, after a month, He was able to walk and the cerebellar symptoms were greatly gone however proteinuria persists.
- Cerebellar Ataxia
- Imerslund-Gräsbeck syndrome
- Megaloblastic Anemia
- Urinary Incontinence
How to Cite
References
Goudarzipour K, Zavvar N, Behnam B, Ahmadi MA. Imerslund-Grasbeck syndrome in a 5-year-old Iranian boy. Indian J Nephrol. 2016;26(6):455-7.
Gräsbeck R. Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria). Orphanet J Rare Dis. 2006;1:17-.
Aslinia F, Mazza JJ, Yale SH. Megaloblastic anemia and other causes of macrocytosis. Clin Med Res. 2006;4(3):236-41.
Laxminarayana KPH, Yeshvanth SK, Shetty JK, Permi HS, Rao C. Unusual cause of childhood anemia: Imerslund Grasbeck syndrome. J Lab Physicians. 2011;3(2):113-5.
Kvezereli-Kopadze M, Mtvarelidze Z. [IMERSLUND-GRASBECK SYNDROME CONGENITAL FORM OF VITAMIN B12 DEFICIENCY ANEMIA]. Georgian Med. News. 2019(290):45-8.
De Filippo G, Rendina D, Rocco V, Esposito T, Gianfrancesco F, Strazzullo P. Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN. Ital J Pediatr. 2013;39:58-.
Gräsbeck R. Imerslund-Gräsbeck Syndrome (Selective Vitamin B12 Malabsorption with Proteinuria). Orphanet journal of rare diseases. 2006;1:17.
Gräsbeck R. Imerslund-Gräsbeck syndrome (selective vitamin B12 malabsorption with proteinuria). Orphanet J Rare Dis. 2006;1(1):17.
Grasbeck R. Imerslund-Grasbeck syndrome (selective vitamin B(12) malabsorption with proteinuria). Orphanet J Rare Dis. 2006;1:17.
McMahon GM, Hwang S-J, Tanner RM, Jacques PF, Selhub J, Muntner P, et al. The association between vitamin B12, albuminuria and reduced kidney function: an observational cohort study. BMC Nephrol. 2015;16:7-.
Beech CM, Liyanarachchi S, Shah NP, Sturm AC, Sadiq MF, de la Chapelle A, et al. Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities. Orphanet J Rare Dis. 2011;6:74-.
Flechelles O, Schneider P, Lesesve JF, Baruchel A, Vannier JP, Tron P, et al. [Imerslund's disease. Clinical and biological aspects. Apropos of 6 cases]. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 1997;4(9):862-6.
Montgomery E, Sayer JA, Baines LA, Hynes AM, Vega-Warner V, Johnson S, et al. Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report. BMC Med Genet. 2015;16:35-.
Chakrabarty B, Dubey R, Gulati S, Yoganathan S, Kumar A, Kumar A. Isolated cerebellar involvement in vitamin B12 deficiency: a case report. J Child Neurol. 2014;29(11):Np161-3.
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