CEREBROSIDE LIPIDOSIS SYNDROME
\səɹˈiːbɹəsˌa͡ɪd lˌɪpɪdˈə͡ʊsɪs sˈɪndɹə͡ʊm], \səɹˈiːbɹəsˌaɪd lˌɪpɪdˈəʊsɪs sˈɪndɹəʊm], \s_ə_ɹ_ˈiː_b_ɹ_ə_s_ˌaɪ_d l_ˌɪ_p_ɪ_d_ˈəʊ_s_ɪ_s s_ˈɪ_n_d_ɹ_əʊ_m]\
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An autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase (see GLUCOSYLCERAMIDASE) featuring the pathological storage of glycosylceramide in mononuclear PHAGOCYTES (Gaucher Cells). 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. (From Baillieres Clin Haematol 1997 Dec;10 (4):711-23; Menkes, Textbook of Child Neurology, 5th ed, p97)
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hydromorphic
- [Greek] Structurally adapted to an aquatic environment, as organs of water plants.