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Sections Krabbe Disease
- Overview
- Presentation
- DDx
- Workup
- Treatment
- Medication
- References
Differential Diagnoses
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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.
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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.
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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.
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There are subtypes based on age of presentation in MLD that resemble Krabbe. All individuals eventually progress to loss of motor and intellectual function.
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Tables
Anna V Blenda, PhD Clinical Associate Professor, Department of Biomedical Sciences, University of South Carolina School of Medicine, Greenville
Anna V Blenda, PhD is a member of the following medical societies: American Association for Cancer Research, American College of Medical Genetics and Genomics, American Society for Microbiology
Disclosure: Nothing to disclose.
Stephen L Nelson, Jr, MD, PhD, FAACPDM, FAAN, FAAP, FANA Professor of Pediatrics, Neurology, Neurosurgery, and Psychiatry, Medical Director, Tulane Center for Autism and Related Disorders, Tulane University School of Medicine; Pediatric Neurologist and Epileptologist, Ochsner Hospital for Children; Professor of Neurology, Louisiana State University School of Medicine
Stephen L Nelson, Jr, MD, PhD, FAACPDM, FAAN, FAAP, FANA is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, American Medical Association, American Neurological Association, Association of Military Surgeons of the US, Child Neurology Society, Southern Pediatric Neurology Society
Disclosure: Nothing to disclose.
Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference
Disclosure: Nothing to disclose.
Luis O Rohena, MD, PhD, FAAP, FACMG Deputy Chief, Department of Pediatrics, Chief, Medical Genetics, San Antonio Military Medical Center; Associate Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Associate Professor of Pediatrics, University of Texas Health Science Center at San Antonio
Luis O Rohena, MD, PhD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics
Disclosure: Nothing to disclose.
Erawati V Bawle, MD, FAAP, FACMG Retired Professor, Department of Pediatrics, Wayne State University School of Medicine
Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American College of Medical Genetics and Genomics, American Society of Human Genetics
Disclosure: Nothing to disclose.
David H Tegay, DO, FACMG Associate Professor and Chair, Department of Medicine, NYIT College of Osteopathic Medicine; Director, Genetics Division, Department of Pediatrics, Nassau University Medical Center
David H Tegay, DO, FACMG is a member of the following medical societies: American College of Medical Genetics and Genomics, American College of Osteopathic Internists, American Osteopathic Association, Federation of American Societies for Experimental Biology, American Society of Human Genetics
Disclosure: Nothing to disclose.
David Flannery, MD, FAAP, FACMG Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia
David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics
Disclosure: Nothing to disclose.
Rahmat A Balogun, DO, MS New York College of Osteopathic Medicine at New York Institute of Technology
Rahmat A Balogun, DO, MS is a member of the following medical societies: American Osteopathic Association, Society for Neuroscience, Student National Medical Association
Disclosure: Nothing to disclose.
Reem Saadeh-Haddad, MD Associate Professor, Clinical Geneticist, Department of Pediatrics and Medicine, MedStar Georgetown University Hospital; Clinical Geneticist, Department of Oncology, Sibley Memorial Hospital; Module Director-Pediatric and Clinical Genetics, Georgetown University School of Medicine
Reem Saadeh-Haddad, MD is a member of the following medical societies: National Arab American Medical Association
Disclosure: Nothing to disclose.
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Sections Krabbe Disease
- Overview
- Presentation
- DDx
- Workup
- Treatment
- Medication
- References
