Krabbe disease

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Notes

Krabbe disease

Genetics

Genetic disorders

Achondroplasia

Alagille syndrome (NORD)

Familial adenomatous polyposis

Familial hypercholesterolemia

Hereditary spherocytosis

Huntington disease

Li-Fraumeni syndrome

Marfan syndrome

Multiple endocrine neoplasia

Myotonic dystrophy

Neurofibromatosis

Polycystic kidney disease

Treacher Collins syndrome

Tuberous sclerosis

von Hippel-Lindau disease

Albinism

Alpha-thalassemia

Beta-thalassemia

Cystic fibrosis

Friedreich ataxia

Gaucher disease (NORD)

Glycogen storage disease type I

Glycogen storage disease type II (NORD)

Glycogen storage disease type III

Glycogen storage disease type IV

Glycogen storage disease type V

Hemochromatosis

Krabbe disease

Leukodystrophy

Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)

Niemann-Pick disease type C

Niemann-Pick disease types A and B (NORD)

Phenylketonuria (NORD)

Polycystic kidney disease

Primary ciliary dyskinesia

Sickle cell disease (NORD)

Tay-Sachs disease (NORD)

Wilson disease

Cri du chat syndrome

Williams syndrome

Angelman syndrome

Prader-Willi syndrome

Beckwith-Wiedemann syndrome

Mitochondrial myopathy

Klinefelter syndrome

Turner syndrome

Fragile X syndrome

Friedreich ataxia

Huntington disease

Myotonic dystrophy

Down syndrome (Trisomy 21)

Edwards syndrome (Trisomy 18)

Patau syndrome (Trisomy 13)

Alport syndrome

Fragile X syndrome

Fabry disease (NORD)

Glucose-6-phosphate dehydrogenase (G6PD) deficiency

Hemophilia

Lesch-Nyhan syndrome

Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)

Muscular dystrophy

Ornithine transcarbamylase deficiency

Wiskott-Aldrich syndrome

X-linked agammaglobulinemia

Autosomal trisomies: Pathology review

Miscellaneous genetic disorders: Pathology review

Muscular dystrophies and mitochondrial myopathies: Pathology review

Assessments

Krabbe disease

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USMLE® Step 1 questions

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High Yield Notes

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Flashcards

Krabbe disease

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Questions

USMLE® Step 1 style questions USMLE

of complete

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?

External References

First Aid

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Globoid cells

Krabbe disease p. 86

Krabbe disease p. 86

Peripheral neuropathy

Krabbe disease p. 86

Summary

Krabbe disease is a rare autosomal recessive disease, in which there is deficiency in glucocerebrosidase enzyme and the accumulation of toxic myelin breakdown product inside cells. This results in progressive neurodegeneration in which early symptoms include vision problems, and balance issues. As the disease progresses, there may be inability to move, speak, or breathe. Most people with Krabbe disease die within two years of diagnosis.

Elsevier

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