ABC Medical Center > Diseases > Krabbe disease

What is Krabbe disease?

13:08 - 29 November , 2023

Disease

It is a rare genetic neurological condition that is caused by insufficient production of galactosylceramidase, an enzyme necessary to generate myelin, which is the tissue that covers the nerves, causing damage that affects the entire body by triggering various dysfunctions.

Also known as leukodystrophy, Krabbe disease can appear before the first year of life, being fatal most of the time before the age of two. When it appears late, usually in early adolescence, it allows the patient to reach adulthood, but with neurological problems.

Signs and symptoms Krabbe disease

  • Muscle sagging or stiffness.
  • Progressive decrease in hearing capacity.
  • Slow development.
  • Feeding problems.
  • Irritability.
  • Hypersensitivity.
  • Seizures.
  • High fever.
  • Progressive vision decrease.
  • Vomit.
  • Deafness.
  • Blindness.

Diagnosis and treatment Krabbe disease

Once the doctor analyzes the symptoms and clinical history, they will perform a physical examination and a series of tests such as:

  • Blood tests.
  • Cerebrospinal fluid total protein test.
  • Genetic testing.
  • Nerve conduction tests.
  • MRI.
  • Computed tomography.

There is no treatment to date, so it is an incurable condition, although, in some cases, it has been treated with a bone marrow transplant at the beginning of the disease. However, it is a pathology whose outcome is fatal sooner or later, causing serious complications such as:

  • Disabling muscle weakness.
  • Blindness.
  • Deafness.

Suppose you have family members who have suffered from Krabbe disease and are planning to become a parent. In that case, it will be necessary to undergo genetic testing to check if you are a carrier of the abnormal gene that causes it.

Likewise, there are prenatal tests, such as amniocentesis, with which it is possible to diagnose the disease in the fetus.

In ABC Medical Center Internal Medicine Department, we provide you with health care services with the highest quality and safety, from prevention, diagnosis, timely treatment, and follow-up of infectious, respiratory, endocrinological, dermatological, rheumatic, nephrological, gastrointestinal, and hematological conditions, both chronic-degenerative and acute, through a comprehensive and multidisciplinary model.

Related centers and departments

Internal Medicine
Radiology and Molecular Imaging
Clinical Laboratory

Fuentes:

  • cun.es
  • topdoctors.es
  • cigna.com
  • mayoclinic.org
  • medlineplus.gov
  • msdmanuals.com
  • middlesexhealth.org
  • medigraphic.com
  • Zárate-Aspiros R, Sosa-Sánchez AD, Rosas-Sumano AB, et al. Enfermedad de Krabbe. Reporte de caso. Rev Mex Pediatr. 2016;83(6):198-202.
  • Villegas CH, Hernández PAD, Peralta S, et al. Diagnóstico de leucodistrofia de Krabbe por microscopia electrónica de transmisión. Informe de un paciente. Cir Cir. 2006;74(6):477-481.
  • Robles-Bermejo F, Fournier-del CMC, Gutiérrez-Solana LG, et al. Perfil neuropsicológico de un paciente con síndrome de Krabbe de inicio infantil tardío y agnosia visual. Rev Mex Pediatr. 2021;88(6):244-248. doi:10.35366/105427.

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