DOI: https://dx.doi.org/10.18203/2349-3291.ijcp20214950
Published: 2021-12-24

Early infantile form of Krabbe disease: a case report

K. Venkataramana Reddy, Chapay Soren, M. Geethika, N. Dharani, K. Sruthi Reddy

Abstract


A 7-month-old female child, born to 2nd degree consanguineous marriage brought with complaints of gross developmental delay. Her examination revealed spasticity in all 4 limbs with brisk deep tendon reflexes with intact primitive reflexes and exaggerated startle reflex. Her MRI brain showed demyelination signs in bilateral thalami, dentate hila, and thickened optic chaisma. Age of presentation, clinico-radiological findings were suggestive of early infantile form of Krabbe disease.  


Keywords


Developmental delay, Spasticity, Primitive reflexes, Demyelination, Krabbe disease

Full Text:

PDF

References


Sonawane VB, Kotrashetti VA, Bainade KS, Vatkar A, Bhatarkar SR. Krabbe disease - a rare lysosomal storage disease. 2020; 5(7):11-8.

Bascou N, DeRenzo A, Poe MD, Escolar ML. A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life. Orphanet J Rare Dis. 2018;13(1):126.

Bongarzone ER. A tribute to the work and life of Dr. Knud H. Krabbe: Advances in genetics, neuropathogenesis, therapies, and clinical management of Krabbe's disease. J Neurosci Res. 2016;94(11):963-4.

Sano Tatiana Suemi. Krabbe disease: the importance of early diagnosis for prognosis. Einstein (São Paulo). 2012;10(2):233-5.

Moser HW. Peripheral nerve involvement in Krabbe disease: a guide to therapy selection and evaluation. Neurology. 2006;67(2):201-2.

Zayed H. Krabbe Disease in the Arab World. J Pediatr Genet. 2015;4(1):1-8.

Szymańska K, Ługowska A, Laure-Kamionowska M, Bekiesińska-Figatowska M, Gieruszczak-Białek D. Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature. Folia Neuropathol. 2012;50(4):346-56.

Graziano AC, Cardile V. History, genetic, and recent advances on Krabbe disease. Gene. 2015;555(1):2-13.

Noronha LD, Sampaio G, Bruck I, Reis-Filho JS, Montemór-Netto MR. Krabbe s disease - case report. Jornal de pediatria. 2000;76:79-82.

Singh H, Khanna V, Maurya V, Bharati A. Krabbe disease. Indian J Radiol Imaging. 2002;12:298-9.

Tullu MS, Muranjan MN, Kondurkar PP, Bharucha BA. Krabbe Disease - Clinical Profile. Indian Pediatrics. 2000;37:939-46.

Brodsky MC, MD, Hunter JS. Positional ocular flutter and thickened opticnerves as sentinel signs of Krabbe disease. J AAPOS. 2011;15(6):595-7.

Won JS, Singh AK, Singh I. Biochemical, cell biological, pathological, and therapeutic aspects of Krabbe's disease. J Neurosci Res. 2016;94(11):990-1006.

Sakai N. Pathogenesis of leukodystrophy for Krabbe disease: molecular mechanism and clinical treatment. Brain and Development. 2009;31(9):485-7.

Escolar ML, Poe MD, Provenzale JM, Richards KC, Allison J. Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. N Engl J Med. 2005;352(20):2069-81.