Disease Information for Cerebral Gaucher's of infants (acute)

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Clinical Manifestations
Signs & Symptoms
Hyperextensable Joints Infant
Bruising/Ecchymosis
Anorexia in Infant
Failure to thrive/infant sign
Feeding/Apetite Problems Child
Tongue Protrudes Infant
Hepatosplenomegaly
Palpable Liver/Hepatomegaly
Central hypotonia, infants
Delay Sitting Unsupported Infant
Hypotonia
Mouth Hangs Open Infant
Muscles Soft/Doughy Infant
Rolling Over Delay Infant
Babkin infant sign/Abnormal
Central Facial Paralysis
CNS symptoms/signs
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Facial weakness/droop, unilateral
Galant Infant reflex/Abnormal
Head Neck Floppy Infant Hypotonia Sign
Infant Head Support Delay
Intellectual Decline Children
Moro reflex Poor/Absent Infant
Opisthotonus
Palmar Grasp infant Reflex Abnormal
Primitive infant reflexes/Abnormal
Progressive neurological disorder/signs
Rooting infant sign/Abnormal
Stiff neck/Nuchal rigidity
Swimming infant reflex/Abnormal
Tonic Neck Infant reflex/Abnormal
Shallow Breathing Infant
Psychomotor retardation
Bone Pains
Delayed speech development/impediment
Stridor (Inspiratory noise)
Stridor infant Child
Splenomegaly
Cherry red spot/retinal sign
Typical Clinical Presentation
Presentation/Death in childhood
Presentation/Progressive Neurologic disorder Infants
Clinical Presentation & Variations
Presentation/Acute encephalopathy Child
Presentation/Degenerative cerebral disease Progressive Child
Presentation/Mental Retardation Progressive
Presentation/Opisthotonus Persistent Infant
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Ethnic or Racial Factors
Ashkenasi Jewish population
Jewish population
Established Disease Population
Patient/Gauchers disease
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Population/Young child ('Twos')
Diagnostic Test Results
Pathology
PATH/Gliosis/Brain/CNS
Associated Diseases & Rule outs
Associated Disease & Complications
Anemia
Growth retardation/failure
Infantile muscular spasms/Hypsarrhythmia
Neonatal Hypotonia/Floppy Baby Syndrome
Organomegaly
Strabismus
Thrombocytopenia
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Brain/CNS disorder (ex)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Gene locus Chromosome 1
Pathophysiology/Lysosome storage disorder (ex)
Pathophysiology/Congenital Brain malformation
Pathophysiology/Ganglioside accumulation brain
Pathophysiology/84insG Gene mutation
Pathophysiology/Beta Glucosidase Defect
Pathophysiology/Gene locus 1q21-q31
Pathophysiology/Glucosylceramide accumulates
Pathophysiology/IVS2 Gene mutation
Pathophysiology/L444P Gene mutation
Pathophysiology/N370S gene mutation
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Storage disorder (ex)
PROCESS/Cerebral lipidoses (ex)
PROCESS/Congenital CNS disorder (ex)
PROCESS/Storage disorder/brain (ex)
Synonyms
Synonym
0 11 years old, ACID BETA GLUCOSIDASE DEFIC DIS, ACID BETA GLUCOSIDASE DEFICIENCY, Acid beta Glucosidase Deficiency Disease, acute, Adult Gaucher disease, ANEMIA SPLENIC FAMILIAL, cerebroside lipidosis, Cerebroside lipidosis syndrome, CEREBROSIDE LIPOIDOSIS (GAUCHERS ADULT FORM), CEREBROSIDE LIPOIDOSIS GAUCHERS ADULT FORM, Child, Child (person), Child Youth, Childhood age person, Childhood age person (person), Children, Children (0 21), Chronic adult Gaucher's disease, CHRONIC GAUCHER DIS, Chronic Gaucher Disease, Chronic non neuropathic Gaucher's disease, Chronic non neuropathic Gaucher's disease (disorder), familial splenic anemia, GAUCHER DIS, GAUCHER DIS CHRONIC, GAUCHER DIS NON NEURONOPATHIC FORM, GAUCHER DIS TYPE I, Gaucher disease, Gaucher Disease Chronic, Gaucher Disease Non Neuronopathic, Gaucher Disease Non Neuronopathic Form, GAUCHER DISEASE NONCEREBRAL JUVENILE, Gaucher Disease Type 1, GAUCHER DISEASE TYPE I, Gaucher splenomegaly, Gaucher syndrome, GAUCHERS DIS, Gauchers Disease, Gaucher's disease, Gaucher's disease type I, GBA DEFICIENCY, GD I, Glucocerebrosidase def type I, GLUCOCEREBROSIDASE DEFIC DIS, Glucocerebrosidase deficiency, Glucocerebrosidase Deficiency Disease, Glucocerebrosidase Deficiency Diseases, Glucocerebrosidase deficiency type I, Glucocerebrosidosis, GLUCOSYL CEREBROSIDE LIPIDOSIS, Glucosylceram b glucosidas def, glucosylceramidase deficiency, Glucosylceramidase deficiency chronic type, GLUCOSYLCERAMIDE BETA GLUCOSIDASE DEFIC DIS, Glucosylceramide beta glucosidase deficiency, Glucosylceramide beta glucosidase deficiency (disorder), Glucosylceramide Beta Glucosidase Deficiency Disease, glucosylceramide lipidosis, HISTIOCYTOSIS LIPID KERASIN TYPE, Kerasin histiocytosis, Kerasin lipoidosis, Kerasin thesaurismosis, Kerasin thesaurismosis (disorder), lipidosis cerebroside, lipoid histiocytosis (kerasin type), NON NEURONOPATHIC GAUCHER DIS, Non Neuronopathic Gaucher Disease, splenomegaly gaucher's, TYPE 1 GAUCHER DIS, Type 1 Gaucher Disease, Synonym/Gauchers Disease/Type II
Treatment
Drug Therapy - Indication
RX/Imiglucerase (Cerezyme)
SX/Bone marrow transplant
Definition
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External Links Related to Cerebral Gaucher's of infants (acute)
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Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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