familial splenic anemia
[autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase featuring the pathological storage of glycosylceramide in mononuclear phagocytes; the most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities; the neuronopathic forms are divided into infantile and juvenile forms; the infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly; the juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ataxia, myoclonic seizures, and spasticity; the neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons. ( CSP )]
UMLS (CSP) C0017205- Disease or Syndrome
Relation/PAR: Arrieration mentale
Reticuloendothelial Hyperplasia
Sphingolipidoses
enzyme deficiency
Reticuloendothelial Hyperplasia
Sphingolipidoses
enzyme deficiency
Buy website
Medical Clinic. Optician. Pharmacy. Physician. Travel Agency. Hotel reservation. Child Care. Education. Teachers. Lessons. Tests and Exams. Certification. Shopping Center. Store. Real Estate.Affordable prices from $100.
  |
home
