Krabbe disease

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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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A 7-month-old boy is brought to the clinic for evaluation of developmental delay. The child is breastfed, but the mother states that recently, he has been irritable and frequently has been having feeding difficulties. His parents have noticed that he is unable to roll over, while his older brother was able to sit up unassisted at the same age. He is of Ashkenazi Jewish descent. Vitals are within normal limits. Facial examination reveals no structural abnormalities. Neurological examination reveals symmetric peripheral neuropathy with diminished sensation to pain. Motor examination reveals spasticity, and muscle atrophy is noted in all extremities. Abdominal examination is unremarkable. Fundoscopy reveals optic atrophy. The family is instructed to return for further genetic testing; however, they are lost to follow-up. One year later, the child passes away due to aspiration pneumonia. Autopsy specimens reveal neural tissue with multinucleated macrophages that stain positive with Periodic acid–Schiff stain with widespread demyelinating changes. Accumulation of which of the following metabolites was responsible for this patient’s symptoms?

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