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Mild Anterior Beaking of Lumbar Vertebrae No Cherry Red Spot No Splenomegaly No Hepatomegaly No Seizures No Myoclonus Mild, Diffuse Cerebral Atrophy Normal Early Development Severe Hypotrichosis Prominent Veins of the Scalp Widespread Interstitial Fibrosis Amorphous Hyaline Substance Thick, Full Lips Frequency in Ashkenazi Jews Increased Highly Variable Phenotype, Adults Possibly Asymptomatic Possibly Later Onset Age at Onset Most Often in Childhood - First Decade Restrictive Impairment Diffuse Pulmonary Infiltrates Bone Marrow Gaucher Cells Serum and Bone Acid Phosphatase Increased Bone Crises Risk for Monoclonal Gammopathy Increased Increased Retinal Vascular Permeability Perimacular Grayness Brown Accumulation of Gaucher Cells at Corneoscleral Limbus See Gaucher Disease Type 3 Which Is Much Less Severe See also More Severe Perinatal Lethal Variant Death Often by Age 2 Years Onset at 3-6 Months of Age Acid Beta Galactosidase Protein and Activity Decreased Ocular Paresis Uncoordinated Swallowing Protruberant Abdomen Rapidly Progressive Brain Stem Degeneration Hyperextension of the Neck Retroflexion of the Neck Subtype 3C Comprises Cardiovascular Calcifications Subtype 3A Comprises Myoclonus and Dementia Onset Usually in Childhood Vertical Ocular Movements Usually Preserved Horizontal Supranuclear Gaze Palsy (Type IIIb) Abnormal Saccades Myoclonic Seizures (Subtype 3A) Myoclonus (Subtype 3A) Subacute Neurologic Deterioration Visceral Manifestations Less Apparent Cardiac Manifestations Are Often Fatal Onset of Cardiac Symptoms in Adolescence Onset of Abnormal Eye Movements in Early Childhood Calcifications of the Cardiac Valves Mitral Stenosis due to Calcifications Calcific Aortic Valve Stenosis Bone Marrow Shows Gaucher Cells β-Glucosidase Protein and Activity Decreased Lysosomal Storage Vacuoles in Trachea, Liver, Cartilage and Heart Brainstem Bronchi Stenosis Short Plump Tubular Bones 'Pleasant Happy Nature' Appearance Normal Upper : Lower Segment Ratio Death usually in Newborn Period or Infancy Onset in Utero or at Birth Myocardial Iron Deposition Extrahepatic Reticuloendothelial System Spared Iron Deposition in Acinar Cells Giant Cell Transformation Iron Deposition in Hepatocytes Iron Deposition in Renal Tubular Cells Endocrine Glands with Iron Deposition Mild Thrombocytopenia Congenital Bleeding Diathesis Absent Platelet Agglutination in Presence of Ristocetin Normal Platelet Aggregation with ADP, Collagen, Epinephrine Platelet Glycoprotein Ib Complex Reduced Large Ocular Globe Sudden Infant Death May Occur Neurologic Symptoms May Develop Decades Later Adrenal Insufficiency Usually Develops Later (First Decade) Caused by Mutation in the Aladin Gene Schirmer Test Shows Alacrima Anisocoria due to Autonomic Dysfunction Mineralocorticoid Insufficiency Adrenocorticotropic Hormone-Resistant Adrenal Insufficiency Onset of Illness Often Associated with Acute Infection Hypodensity of Caudate Nucleus Hypodensity of Lenticular Nuclei Symmetrical Progressive Demyelination Widening of Cortical Sulci Early Diagnosis and Treatment Prevent Many Complications Often Diagnosed between Ages 3 4 Months Glucose 6 Phosphate Deficiency Liver Transaminases Normal to Slightly Increased Defective T1 Transport Protein for Glucose-6-Phosphate Translocase 'Doll Like' Facies Intestinal Mucosal Ulceration Huge QRS Complexes Deficiency of Alpha-1,4-Glucosidase aka Acid Maltase AST and LDH Elevated- Especially Infantile-Onset Muscle Weakness Increases with Age Type IIIb Liver Involvement Only