Pediatric disseminated lipogranuloma syndrome
Introduction
Introduction to disseminated fatty granuloma syndrome in children Disseminated fatty granuloma syndrome (Farberssyndrome) is disseminated lipogranulomatosis, also known as ceramide deposition disease, Farber fat granuloma. The disease is an autosomal recessive hereditary disease characterized by small joint involvement, subcutaneous nodules, and central nervous system damage. basic knowledge The proportion of illness: 0.002% Susceptible people: young children Mode of infection: non-infectious Complications: neonatal laryngeal respiratory infection
Cause
Causes of disseminated fatty granuloma syndrome in children
Causes:
The disseminated fatty granuloma syndrome may be an autosomal recessive disorder.
Pathogenesis:
Due to the lack of ceramidase, ceramide cannot be broken down into sphingosine and fatty acids, and thus accumulates in the brain, internal organs, and subcutaneous nodules.
Prevention
Prevention of disseminated fatty granuloma syndrome in children
Prevention refers to the prevention of congenital diseases, prevention should be from pre-pregnancy to prenatal:
Premarital medical examination
The role of a positive role in the prevention of birth defects depends on the examination items and content, mainly including serological tests (such as hepatitis B virus, Treponema pallidum, HIV), reproductive system tests (such as screening for cervical inflammation), general physical examination ( Such as blood pressure, electrocardiogram) and ask about the family history of the disease, personal medical history, etc., do a good job in genetic disease counseling.
2. Pregnant women avoid harmful factors as much as possible
Including away from smoke, alcohol, drugs, radiation, pesticides, noise, volatile harmful gases, toxic and harmful heavy metals, etc., in the process of antenatal care during pregnancy, systematic screening of birth defects, including regular ultrasound, serology Screening, etc., if necessary, a chromosome check.
Once an abnormal result occurs, it is necessary to determine whether to terminate the pregnancy; the safety of the fetus in the uterus; whether there is sequelae after birth, whether it can be treated, how to prognose, etc., and take practical measures for diagnosis and treatment.
Complication
Pediatric disseminated lipogranulomatosis syndrome complications Complications, neonatal laryngeal respiratory infection
Nodules can cause wheezing, hoarseness, and difficulty breathing in the throat; there may be hepatomegaly, progressive intellectual disability, and prone to respiratory infections.
Symptom
Symptoms of disseminated fatty granulomatosis syndrome in children Common symptoms Subcutaneous nodular joint swelling, reflexes, disappearance, joint pain, dysphagia, granuloma, liver enlargement, neonatal throat wheezing
In the clinical months, infants can develop symptoms, such as swelling of the joints, deformation and pain. Subcutaneous nodules are found in the joints around the joints and subcutaneous tissues, eyelids, spine, face, etc., and throat wheezing can also form in the throat. Characteristic symptoms such as hoarseness, breathing and difficulty in pronunciation, most of the children have central nervous system involvement, manifested as dyskinesia, low muscle tone, paralysis reflex, difficulty swallowing, progressive intellectual developmental disorder, and usually have respiratory infections.
In addition, the child also has enlarged liver, periodic fever, mild yellow cherry spots on the fundus, and foveal edema.
Pathology can be seen in the soft tissue surrounding the joint and other compressed parts of the skin and subcutaneous tissue, with tubular or nodular masses, with oily yellow spots on the serosal surface of the body wall and internal organs.
Examine
Examination of disseminated fatty granuloma syndrome in children
1. Blood test: See anemia, moderate white blood cells (15 ~ 20) × 10 9 / L.
2. Bone marrow examination: The bone marrow occasionally sees vacuolated tissue cells.
3. Pathological examination: The pathological changes of subcutaneous nodules showed large tissue cells in the early stage, scattered in lymph and plasma cells, and foam cells containing PAS-positive substances appeared soon, and finally vacuolated necrosis and fibrosis were formed.
4. X-ray examination: bone and joint X-ray showed osteoporosis, structural disorder, joint destruction and hardening around it.
5. B-ultrasound: Abdominal B-ultra-visible liver enlargement.
6. Laryngoscopy: visible laryngeal nodules.
7. Ophthalmoscopy check: It can be seen that the fundus macula has mild cherry red spots, foveal edema and other symptoms.
8. Other: EEG, brain CT and intelligence tests should be done.
Diagnosis
Diagnosis and diagnosis of disseminated fatty granuloma syndrome in children
The disease can be considered based on clinical characteristics.
Differential diagnosis
1. Multi-articular disease type of rheumatoid arthritis in children This type is rare within 1 year old, rheumatoid factor-negative, multi-articular pain, can occur in childhood, often mild arthritis, but no joint deformation or bone damage.
2. Nodular panniculitis (Weber-Christian disease) found in children with fever, repeated fever, subcutaneous nodules, nodules more common thighs, about 1 ~ 2cm diameter, soft, red, slightly painful, weeks After self-reduction, there are skin depressions and pigmentation, which can have liver, lymph nodes and spleen.
