Zárate-Aspiros R, Sosa-Sánchez AD, Rosas-Sumano AB, Jiménez-Balderas E, Belmont-Martínez L, Paz-Pacheco A, Chiñas-López S

Language: Spanish
References: 20
Page: 198-202
PDF size: 474.23 Kb.

ABSTRACT

Introduction: Krabbe’s disease is an autosomal recessive degenerative genetic disease, which affects the central and peripheral nervous system, and it is usually fatal. It is a lysosomal storage disease also known as globoid cells leukodystrophy, caused by deficiency of beta galactocerebrosidase (GALC), whose incidence is 1 in 100,000 live births. Case report: Male with 6 months old of age, who started at two months of age with irritability, progressive spasticity and rigidity, subsequently presenting progressive loss of development. He was hospitalized at the community hospital because of swallowing disorder and feeding difficulties and fever. Physical examination revealed stunted growth, developmental regression, spasticity and rigidity, pyramidal syndrome as a progressive spastic quadriplegia, which oriented the diagnosis of a neurological disease of metabolic origin. Diagnostic confirmation was made with enzymatic study by dosage of galactocerebroside-β-galactosidase activity took place. Conclusions: In patients with progressive neurological disorders, with regression of psychomotor development, the pediatrician should consider the possibility of a metabolic disease, follow clinical guidelines for timely diagnosis, as well as provide genetic counseling to reduce the impact that leads to a fatal neurodegenerative metabolic disease.

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