30701 to 30800 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• Brown Accumulation of Gaucher Cells at Corneoscleral Limbus
• See Also 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
• Protruberant Abdomen
• Rapidly Progressive Brain Stem Degeneration
• 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)
• 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
• 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 Renal Tubular Cells
• Endocrine Glands with Iron Deposition
• 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
• 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
• 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
• Liver and Muscle Involvement in Type 3A
• Normal Uric Acid
• Normal Blood Lactate
• Bow-Shaped Lips
• Broad Upturned Nasal Tip
• Allelic Disorder to Adult Polyglucosan Body Disease
• Nonprogressive Hepatic Form Is Less Frequent
• Extreme Clinical Heterogeneity
• Tissue Deposition of Amylopectin-Like Material
• Branching Enzyme Deficiency
• Liver Biopsy Shows Diffuse Interstitial Fibrosis
• Painful Cramping Following Ischemic Exercise Test
• Symptoms Usually Appear in Adulthood
• Uric Acid Increased with Exercise
• Increased Ammonia With Exercise
• Hepatomegaly Improves with Age and Disappears around Puberty
• Presentation In Early Childhood
• No Hyperuricemia
• No Lactic Acidosis
• Variable Hyperlipidemia
• Liver Glycogen Content Increased
• Final Adult Height Normal
• Myoglobinuria with Extreme Exertion
• Hypertrichosis (Scalp, Arms, Legs, Back)
• Elevation of the Lessor Sphenoidal Wings
• Clival Hypoplasia
• X Linked Recessive Cytochrome B Negative CGD
• Deficiency or Absence of p22phox Protein
• Deficiency or Absence of P91-Phox Protein
• Deficiency or Absence of p47-phox Protein
• Deficiency or Absence of p67-phox Protein Type 2
• Presence of Cytochrome B-245
• All Cases Have Been Sporadic
• Hypotrichosis (Especially Scalp, Eyebrows, Eyelashes)
• Thin Light Hair