Krabbe Disease Differential Diagnoses

Updated: Dec 18, 2019
  • Author: Anna V Blenda, PhD; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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Differential Diagnoses

  • Alexander Disease

    This neurodegenerative disease can present in infancy with megalencephaly, seizures, progressive psychomotor delays, and quadriparesis. Older individuals can present with megalencephaly, speech abnormalities, ataxia, swallowing difficulties, vomiting, intellectual deterioration, and seizures. This condition is X-linked.

  • Canavan disease

    Canavan disease is also characterized by developmental delays with hypotonia noted in the first few months of life. Hypotonia progresses to hypertonia. Canavan is known to result in macrocephaly. Testing shows elevation of N-acetylaspartic acid.

  • GM2 Gangliosidoses

    These neurodegenerative conditions are caused by an accumulation of glycosphingolipid GM2 in the lysosome. Tay Sachs is the prototype and characterized by developmental delays and progressive neurodegeneration noted in the first few months of life. Seizures, maculary cherry red spots, and blindness are seen.

  • Metachromatic Leukodystrophy

    There are subtypes based on age of presentation in MLD that resemble Krabbe. All individuals eventually progress to loss of motor and intellectual function.

  • Sphingomyelinase Deficiency