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Year : 2002  |  Volume : 12  |  Issue : 2  |  Page : 298-299
Krabbe disease


Dept. of Radiodiagnosis, Command Hospital (SC), Pune-411040, India

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

How to cite this URL:
Singh H, Khanna V, Maurya V, Bharati A. Krabbe disease. Indian J Radiol Imaging [serial online] 2002 [cited 2019 Nov 13];12:298-9. Available from: http://www.ijri.org/text.asp?2002/12/2/298/28466
Sir,

Inherited leukodystrophies are neurodegenerative disorders that primarily involve the brain white matter. They are caused by genetic defects that result in the abnormal synthesis, maintenance or catabolism of CNS myelin. Those with an early infantile onset include Krabbe disease (KD) or globoid cell leukodystrophy (GLD), Pelizaeus Merzbacher disease, Canavan disease and Alexander disease. KD is a rare autosomal recessive disorder resulting from the deficiency of the lysosomal enzyme galactocerebroside (GALC) [1]. Diagnostic protocol in these cases includes cerebro-spinal fluid analysis, nerve conduction studies, neuroimaging and GALC assay in peripheral blood leukocytes or cultured skin fibroblasts.

A four months old female infant, product of a non-consanguineous marriage with normal antenatal and birth history was brought with complaints of failure to thrive, stiffness of all four limbs, exaggerated startle response, scissoring of the lower limbs, impairment of vision and hearing with associated generalized tonic clonic seizures. There was no history of fever. Clinical examination revealed an irritable infant with dysmorphic facial features having a high pitched shrill cry. Developmental milestones were delayed with absent neonatal reflexes. Neurological examination revealed increased tone in all four limbs, exaggerated deep tendon reflexes, bilateral up going plantars, power grade IV/V and a normal sensory system. Fundus examination was normal. Routine laboratory investigations were within normal limits except for lower hemoglobin levels (Hb-8.5 gm%). GALC assay in the peripheral blood leukocytes or cultured skin fibroblasts was not done due to non availability of these tests. Plain CT revealed prominence of the ventricular system with diffuse symmetrical hyper densities in the thalami, caudate nuclei, corona radiata, optic radiations and periventricular region [Figure - 1][Figure - 2][Figure - 3] suggesting the diagnosis of KD. On MR the thalami appeared unusually hypointense with periventricular hyperintensities - [Figure - 4].

KD or GLD owes its name to the globoid cells, which are characteristic storage cell found infiltrating around cerebral blood vessels. In 1916 Krabbe described this entity as diffuse cerebral sclerosis [2]. A simple classification takes into account the age at onset of the disease and reflects the variations in clinical presentations of the subtypes. The classical infantile form manifests in the first six months of life with neurodegeneration, failure to thrive, fever, seizures and visual loss. Initial hypotonia subsequently gives way to spasticity. As a rule, death occurs by 2 years of age. As opposed to this, a more protracted course occurs with onset of gait disturbances in the second year of life, progressive spasticity and visual loss. Pyramidal weakness and blindness predominate in the juvenile form, whereas the adult onset disease is characterized by slowly progressive ataxia or spasticity with preservation of intellect [3].

The diagnosis of KD is established by the detection of very low GALC activity in leukocytes and cultured skin fibroblasts. Raised CSF proteins nerve conduction studies demonstrating peripheral neuropathy are also important aids to the diagnosis. In the absence of confirmatory evidence of low or absent GALC levels, the characteristic distribution of lesions on CT and MRI can be diagnostic [4].

CT brain shows progressive, diffuse and symmetrical hyper densities involving the cerebellum, thalami, caudate nuclei, corona radiata and brain stem. In general MR detects demyelination more clearly in the brain stem and cerebellum as compared to CT. Typically MR in early disease shows plaque like periventricular hyperintensities on T2WI. These usually begin in the parietal periventricular regions and extend in all directions with time. However, MR may appear deceptively normal in the early stage of infantile Krabbe's disease [5] when CT reveals characteristic changes as seen in this case.

Therapy for KD in the early stages with hematopoietic stem cell transplantation has been successfully attempted with radiological and clinical improvement [6].

 
   References Top

1.Jesionek-Kupnicka D. Majchrowska A. Krawczyk J. Wendorff J. Barcikowska M. Lukaszek S. Krabbe disease: An ultra-structural study of globoid cells and reactive astrocytes at the brain and optic nerves. Folia Neuropatho1 1997;35:155-162.  Back to cited text no. 1    
2.Krabbe K. A new familial infantile form of diffuse brain-sclerosis. Brain 1916;39:74-114.  Back to cited text no. 2    
3.Verdru P, Lammens M, Dom R,Elsen AV, Carton H. Globoid cell leukodystrophy. A family with both late infantile and adult type. Neurology 1991;41:1382-1384.  Back to cited text no. 3    
4.Milind S. Tullu, Mamta N. Muranjan, Pratima P. Kondurkar Burjor A. Bharucha Krabbe Disease - Clinical Profile.Indian Pediatrics 2000;37:939-946.  Back to cited text no. 4    
5.Finelli DA, Tarr RW, Sawyer RN. Deceptively normal MR in early infantile Krabbe disease, AJNR 1994;15:167-171  Back to cited text no. 5    
6.Krivit W. Shapiro EG, Peters C, Wagner JE, Cornu G. Kurtzberg J. Hematopoietic stem cell transplantation in globoid-cell leuko-dystrophy. N Engl J Med 1998;338:1119-1126.  Back to cited text no. 6    

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Correspondence Address:
H Singh
Dept. of Radiodiagnosis, Command Hospital (SC), Pune-411040
India
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Source of Support: None, Conflict of Interest: None


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[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]



 

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