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2024, Number 4

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Rev Mex Pediatr 2024; 91 (4)

Early progression of infant with Krabbe disease

Cubides-Villamil PA, Salim-Torres YY, Cabarcas-Castro L, Ortiz-Corredor F, Espinosa-García E

Language: Spanish
References: 31
Page: 149-153
PDF size: 348.99 Kb.


ABSTRACT

We present the case of a six-month-old female infant with early-onset Krabbe disease. The patient presented with persistent irritability, fever, generalized spasticity, and eyelid edema. Neurophysiological and neuroimaging studies, along with galactosylcerebrosidase enzyme quantification, confirmed the diagnosis. The patient died two months later.


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