What is Krabbe Disease?

Krabbe's disease, also known as Krabbe's disease, was first reported by Danish pediatrician Krabbe in 1916. According to its clinical characteristics, it is also called infantile familial diffuse sclerosis. Crabber's disease is an autosomal recessive genetic metabolic disease with a mutant gene at 14p. The deficiency of Krabbe's disease causes galactocerebroside--galactosidase deficiency, which is a genetic metabolic disease that mainly affects white matter in the brain. The prognosis of this disease is extremely poor, infantile patients often die within 1 year of age. Late-starters can survive to about 10 years of age.

Basic Information

nickname

Krabbe disease, infantile familial diffuse sclerosis

English name

Krabbe Disease

Visiting department

Pediatrics

Multiple groups

Infants

Common causes

Heredity

Common symptoms

Infant-type irritability, crying, apathy, or vomiting, nystagmus, strabismus, and blindness at the age of 1; late-onset walking difficulties, or spastic unilateral lower limb paralysis

Causes of Kraber's disease

Crabber's disease is an autosomal recessive disease with a mutation at 14p. The patient's genetic defect, lack of galactocerebroside--galactosidase in the body, led to the deposition of many galactocerebrosides in the white matter of the brain.

Clinical manifestations of Crab disease

The disease can be divided into two types clinically.

Baby type

Most of the children develop symptoms within 3 to 6 months. The first symptoms are irritability, crying, apathy, or vomiting, and most of them are accompanied by malnutrition. The disease develops rapidly, and progressive trunks and limbs soon appear. Decreased muscle tone, myoclonus, hypertenoid reflex, and positive pyramidal sign; nystagmus, strabismus, etc. can occur at the age of 1 and the optic nerve atrophy and blindness occur immediately; a few children also have hearing loss. Patients with advanced muscle tone are often hypertonic, and most die within 2 years of age due to dyspnea or lung infection.

2. Evening hairstyle

The age of onset varies from 15 months to 10 years, but most of them are before the age of 5; the clinical symptoms are similar to those of infants. Progressive walking difficulties at the beginning, or spastic unilateral lower limb paralysis or hemiplegia first appear, and bilateral pyramidal cord signs appear after weeks or months; more than half of the children can see the disappearance of deep tendon reflexes and reduced nerve conduction rate Wait for signs of peripheral nerve invasion. With the prolongation of the disease, neurological symptoms become more and more serious. Blindness due to demyelination of the optic nerve is common. Children with mental retardation and behavioral abnormalities appear sooner or later, but seizures are rare. Most have quadriplegia and dementia 2 to 5 years after onset.

Crab disease test

Laboratory inspection

(1) Examination of cerebrospinal fluid protein quantitatively increased.

(2) Serum culture The galactocerebroside -galactosidase activity was deficient in fibroblasts.

2. Other auxiliary inspections

(1) EEG showed non-specific slow wave or focal slow wave.

(2) CT and MRI scans of the brain showed increased bilateral symmetry density of the inner capsule and basal nucleus.

(3) Electromyographic examination showed denervation and slowing of motor sensory nerve conduction velocity.

Crab disease diagnosis

The laboratory characteristics of this disease are: abnormally increased protein content in the cerebrospinal fluid; decreased nerve conduction rate; MRI scans of the brain show demyelinating lesions around the ventricle and in the parietal occipital lobe. Confirmation of diagnosis must be based on the detection of galactocerebrosidase activity, usually using peripheral blood leukocytes; prenatal diagnosis can take cultured amniotic fluid cells or villus biopsy for enzymatic testing.

Craber's Disease Treatment

There is no special treatment for this disease, which can be treated symptomatically and prolong the survival of children. Mainly supportive therapy. Lysosomal enzyme replacement therapy and bone marrow transplantation are still in animal experiments.