What do you all know about Krabbe Disease

Specialties Pediatric


I have a patient who was diagnosed with Krabbe disease at 7 months old. She underwent a stem cell transplant to replace the missing enzyme. She is doing well. The mother called me because her cousin's baby is 3 weeks old and presenting some symptoms; arching, irriability and was diagnosed with reflux.

Since it is genetic wouldn't this baby be at risk? Doc said no, he know the history and feels it is reflux. The problem being that if she is misdiagnosed she will miss her window for transplant. Does anyone treat Krabbe or other leukodystrophies? What is know about them?




1,112 Posts

Infants with Krabbe disease are normal at birth. Symptoms begin between the ages of 3 and 6 months with irritability, inexplicable crying, fevers, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. If the esperts are correct, this infant would be too young to be showing sypmtoms and Krabbe's is very rare.


3 Posts

I've had Krabbe kids that presented symptoms at birth, later to die by the time they were diagnosed. I treated about 7 Krabbe kids all age ranges and all their symptoms have been simular but different.

The thing is this mom and I have become close and she is not one to panic, she has remained fairly calm through all of this. Her daughter is named Ashleigh also, so I guess that led to the close connection. There website is caringbridge.org/nj/ashleigh.ryann. Sweet family.


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