医
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外周围血淋巴细...、肝脾肿大、SM累积量升高、肌张力减低、核上性垂直性眼肌瘫痪、进食呕吐、细胞酶活性异常
Niemann-Pick disease is lysosomal sphingomyelin lipidosis; hepatosplenomegaly/neurodegeneration; type A (infantile) B C.
Hepatosplenomegaly; neurodegeneration; foam cells; cherry-red spot
SMPD1/NPC1 mutation; autosomal recessive.
Supportive; miglustat; enzyme replacement
Genetic counseling.
It is recommended to visit the pediatrics department; before the visit you may first book an appointment and connect with experts through this platform.
Warm reminder: The above information is provided for health education reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek care at a regular hospital in time.
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