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Copyright V. Ventruto / A. Di Luccio Genus database 10495 Gaucher didease, acute cerebral type Eponyms: Inheritance: Gaucher type II infantile GBA acute cerebral GD II GD type 2 supposed autosomal recessive Semeiological Metabolic-neuro-ocular disorder. Hepatosplenomegaly, head retroflexion, strabismus, dysphagia, choking spells, hypertonicity. Occasionally foetal ascites/oedema. Death during the first 3 years of life. Coombs test Synthesis: positive. Group Sub group Signs: DERMATOLOGICAL DISORDERS dermatitis eczema, senborrheic dermatitis keratinisation defects ichthyosis GASTROINTESTINAL DISORDERS liver dysfunctions, liver anomalies hepatomegaly, liver enlarged oesophageal anomalies dysphagia HEMOPOIETIC-LYMPHORETICULAR SYSTEM DISORDERS coagulation disorders, including platelet changes thrombopenia, thrombopathy, platelet reduction, thrombocytopenia spleen, anomalies splenomegaly, hepatosplenomegaly LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 1q localization fibroblasts, changes metachromasia foetal-amniotic biochemical data glucosylceramide-beta-glucosidase , low activity (foetal) gene, structural-functional anomalies GBA glucosidase beta, acid, gene chr.1q21 gene analysis-DNA analysis myelo-erythropoietic disorders anaemia, no haemolytic plasma lipids, anomalies lipoprotein, lipid disorders tissue, biochemical changes fibroblasts, changes glucocerebrosidase lysosomal , low activity lethality, in metabolic/immunological/environmental disorders lysosomal disorders NEUROLOGICAL DISORDERS brain anomalies brain: hemorrhage, including ischemia, strokes mental retardation mental retardation neurological dysfunctions opisthotonus spasm, spastic paralysis, spastic paraplegia Gaucher didease, acute cerebral type Page 1 of 3 Copyright V. Ventruto / A. Di Luccio Genus database performance changes, not including mental retardation stupor, lethargy, including coma OCULAR DISORDERS eye, motility defects strabismus convergent, esotropia, misalignment of the visual axes of the eyes OTHERS supergroups gastrointestinal-oculo-skeleal disorders hemato-neuro disorders PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data hydrops foetalis, foetal hydrops, including foetal ascites prenatal diagnosis foetal biopsy prenatal diagnosis, metabolic prenatal diagnosis, molecular RESPIRATORY DISORDERS larynx, changes laryngeal spasm, stridor, asphyxia, laryngomalacia, including vocal cord paresis respiratory distress respiratory infections, recurrent, including pneumonitis SKELETAL DISORDERS bones, lesions, structural changes bone cysts, osteoma, osteochondroma, bones tumefations osteochondritis disseccans, including osteitis osteoporosis ossification, changes bone, sclerotic, hyperostotic, not including: focal sclerosis osteopenia, bone hypodensity, demineralization of the bones, deficient ossification periosteal changes periosteal reaction, rachitic-like rosary Super group: gastrointestinal-oculo-skeletal disorders hemato-neuro disorders Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: hydrops foetalis LETHALITY lethality, in metabolic/immunological/environmental disorders vomit, lethargy, hypotonia, other features including some metabolic defects without dysmorphism/malform METABOLIC DISORDERS lipoprotein, lipid disorders lysosomal disorders Differential diagnosis: 26 10504 10490 28504 24940 24941 Ahmed syndrome Gaucher disease, variant type Gaucher, juvenile cerebral type Gaucher-like disease Tay-Sachs disease Tay-Sachs disease, AB variant Aggregation(s) [in differential diagnosis]: - hydrops foetalis Gaucher didease, acute cerebral type Page 2 of 3 Copyright V. Ventruto / A. Di Luccio Genus database Bibliography OMIM ID: 230900 Prenat.Diagn.20,340-343,2000 Wiedemann H.R.-Kunze J.: Clinical Syndromes , Mosby-Wolfe Ed. 1997 pag. 126-127 J.L.Spitz: Genodermatoses. Lippincott William Wilkins Ed. 2006 Annuario Orphanet-Italia delle Malattie Rare, 2005 pag.393 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.24612463,2007 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.747766,2007 Gaucher didease, acute cerebral type Page 3 of 3
