Krabbe disease

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Summary of Krabbe disease

Krabbe disease is a rare, often fatal, degenerative disorder that affects the myelin sheath of the nervous system. It is characterized by deficiency of the enzyme galactocerebrosidase and subsequent accumulation of galactocerebroside and psychosine. It is a form of sphingolipidosis, as it involves dysfunctional metabolism of sphingolipids. This condition is inherited in an autosomal recessive pattern.

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Krabbe disease

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Chapter 52 Sphingolidosis DIAGNOSIS LAB RESULTS ▪ Enzymatic assay to conﬁrm glucocerebrosidase deﬁciency ▪ Genetic testing ▫ Prenatal diagnosis available TREATMENT OTHER INTERVENTIONS ▪ Enzyme replacement therapy Figure 52.2 A section of bone marrow demonstrating numerous crinkled paper macrophages, or Gaucher cells, in an individual with Gaucher’s disease. KRABBE DISEASE osms.it/krabbe-disease PATHOLOGY & CAUSES ▪ AKA globoid cell leukodystrophy ▪ Lysosomal enzyme galactocerebrosidase deﬁciency ▪ Lipids galactocerebroside and psychosine buildup → ▫ Globoid cell formation (multinucleated macrophages) ▫ Oligodendrocyte destruction → demyelination ▪ Autosomal recessive inheritance pattern ▪ Progressive damage to nervous system → fatal SIGNS & SYMPTOMS ▪ Usually present within ﬁrst six months of life ▪ Peripheral motor, sensory neuropathy, loss of sensation, muscle atrophy in extremities ▪ Central nervous system dysfunction ▫ Irritability, developmental delay, spasticity, optic atrophy, seizures, weakness DIAGNOSIS LAB RESULTS ▪ Enzymatic assay to measure galactocerebrosidase activity in leukocytes ▪ Microscopy shows demyelination, characteristic globoid cells (i.e, multinucleated macrophages containing ↑periodic acid-Schiff (PAS) positive materials) ▪ Genetic testing TREATMENT OTHER INTERVENTIONS ▪ Affective therapy not yet available ▪ Hematopoietic stem cell transplantation is beneﬁcial, especially in early onset of symptoms OSMOSIS.ORG 297

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Krabbe disease

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Krabbe disease is a lysosomal storage disorder that leads to accumulation of (two substrates) .

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A ten-month-old girl is referred to a pediatric neurologist for several seizures over the last few months and new difficulty with walking. She was born full-term without complications to a G2P2 mother after an uneventful pregnancy. On physical examination the child is unable to stand upright without support and does not track objects with her eyes. MRI shows optic nerve atrophy. A nerve biopsy shows demyelinated nerves with nests of multinucleated globoid cells. Which of the following is the correct diagnosis?

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