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November 11, 2010 PowerPoint Presentation
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November 11, 2010 - PowerPoint PPT Presentation


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November 11, 2010. Undernutrition. 61/2 m/o ex 34 WGA twins with: FTT Severe Global Developmental Delay Hypertonia Oculomotor findings Reflux Intermittent Diarrhea HSM h/o neutropenia and thrombocytopenia. Gaucher Disease. Gaucher Disease. Inborn error of metabolism

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Presentation Transcript
slide10

61/2 m/o ex 34 WGA twins with:

    • FTT
    • Severe Global Developmental Delay
    • Hypertonia
    • Oculomotor findings
    • Reflux
    • Intermittent Diarrhea
    • HSM
    • h/o neutropenia and thrombocytopenia
gaucher disease1
Gaucher Disease
  • Inborn error of metabolism
    • Affects recycling of cellular glycolipids
  • Defect in b-glucocerebrosidase
    • Accumulation of glucocerebroside in lysosomes
  • Most common lysosomal storage disease
  • Incidence 1/75,000 worldwide
  • Autosomal recessive
clinical presentation
Clinical Presentation
  • Neurologic dysfunction
    • Developmental Delay
    • Oculomotor dysfunction
  • Pathologic fractures
  • Hepatosplenomegaly
  • Anemia
  • Neutropenia
  • Thrombocytopenia

Cardiac and renal symptoms

typically absent

gaucher disease2
Gaucher Disease
  • Ashkenazi Jews
    • 7% heterozygous
    • Frequency of disease 1:1000
  • Also common among Swedish
diagnosis
Diagnosis
  • Gaucher cells in bone marrow
    • False negatives
  • Gold Standard:
    • Enzyme assay (b-glucocerebrosidase)
    • Molecular DNA analysis
  • Carrier testing recommended for close relatives
clinical features
Clinical features

Three Clinical Types

type 1
Type 1
  • Adult onset
  • Most common
  • Most closely tied with Ashkenazi Jews
  • NO CNS findings
  • Varies from mild to severe
  • Enzyme replacement: near-normal life expectancy
type 2
Type 2
  • Most severe form
  • Death by age 2
  • Treatment usually not indicated
  • Early, severe CNS involvement
    • Brainstem abnormalities
type 3
Type 3
  • Juvenile onset
  • “chronic/subacute form”
  • Most common in Swedish
  • Later onset:
    • Incoordination, mental deterioration, seizures
  • Slowly progressive
    • Becomes severe in later childhood
treatment
Treatment
  • Enzyme replacement therapy
    • Glucocerebrosidase IV
    • Some improvement within 6 months
    • Not effective for CNS symptoms
  • Research
    • Oral therapy
    • Gene therapy
lysosomal storage diseases
Lysosomal Storage Diseases
  • Mutation in gene coding for production of lysosomal enzymes
    • Accumulation of substrate
    • Impairment of cell function
  • >40 different LSD
  • Start in late infancy or early childhood with slowly progressive symptoms
lysosomal storage diseases1
Lysosomal Storage Diseases

Mucopolysaccharides

Hurler’s

Hunter’s

Sanfilippo

Morquio

Glycolipids

Gaucher

Fabry

Krabbe

Tay Sachs

lysosomal storage diseases2
Lysosomal Storage Diseases
  • Mucopolysaccharidoses
    • Cannot break down glycosaminoglycans
    • Clinical effects
      • Coarsening of facial features
      • Skeletal abnormailities
        • Dysostosis multiplex
      • Joint structure and function
      • Organomegaly
      • +/- Cognitive abilities
      • +/- Corneal clouding
    • Treatment: enzyme replacement or BMT
lysosomal storage diseases3
Lysosomal Storage Diseases
  • Sphingolipidoses
    • Developmental regression
    • Organomegaly
    • Cherry red macula
    • Bone pain
    • Short
glycogen storage disease
Glycogen Storage Disease
  • Von Gierke Disease (GSD I)
    • Liver can’t produce glucose
    • Features
      • Hypoglycemia with prolonged fasting
      • Organomegaly
      • Cherubic face
      • Poor growth
      • Elevated TG and cholesterol
    • Lab findings
      • Elevated lactic and uric acid
    • Treatment
      • Frequent snacks and meals
glycogen storage disease1
Glycogen Storage Disease
  • Pompe Disease (GSD II)
    • Cannot use muscle glycogen
    • Features
      • Muscle weakness
        • Muscles are hard
      • Rhabdomyolysis
      • FTT
      • Macroglossia
      • Cardiomegaly
    • Treatment
      • Enzyme replacement