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Clinical Correlation 2 - Coggle Diagram

- - - - Developmental regression at 3-6 months
        
        Incoordination
        
        Hypotonia
      - Cherry red spot in macula - a clue but can be present w/ other diseases
      - Hyperacusis
        
        Exaggerated startle response: More exaggerated and lower threshhold; also their reflex to spread arms out like surprise takes longer.
      - Hyperreflexia
        
        Clonus - additional jerks and actions
      - Seizures, irritability, and screaming
      - Macrocephaly :!:
      - Blind by 30 months
    - - Most common in Ashenazi jew, Cajun, quebec, Irish (Strong irish background), Amish
      - Autosomal recessive
        
        3 types:
        
        Infantile- most common :star:
        
        Most unresponsive by 2-3 yr w/ death soon after around 5 yr
        
        Juvenile
        
        Late Onset - extremely rare.
  - - - Cause dysfunction then death
  - - - Airway management
    - - Enzyme replacement - less effective bc of blood brain barrier
      - Substrate reduction
      - Gene therapy
      - Bone marrow transplant
- - - - Most common enzyme deficiency
        
        400 million affected
        
        Aysmptomatic until stressor encountered :!:
        
        Provides protection against uncomplicated malaria
        
        Greater than 400 mutations w/ varying severity
        
        X linked recessive
    - - Newborns
        
        Increased risk of neonatal jaundice and kernicterus
        
        Kernicterus- deposition of bilirubin and breakdown products in the brain. Long term complication
        
        Lethargy with increased bilirubin >95%
        
        Excessive sleepiness
        
        Baby is limp and difficult to wake up.
        
        Poor muscle tone
        
        Clue: Sibling w/ jaundice less than 24 hr of age
      - Adults
        
        Pallor
        
        Jaundice
        
        Fatigue
        
        Splenomegally
        
        Dark urine
        
        Recent medication or herbal use
        
        Fava bean is a trigger
      - Jaundice
        
        Scleral Icterus
      - Hemoglobinuria :!:
        
        Finding RBC or its products in urine
        
        RBC w/ Hienz body and bite cells
        
        Bite cells are damaged RBC :!:
        
        Color of tea or cola
      - Intrinsic hemolysis :!:
      - Back Pain
        
        Relates with kidney
  - - - Reduces NADP to NADPH
        
        Key part of oxidative stress pathway in RBC so deficiency increased oxidative damage.
        
        RBC have limited repair once mature
        
        Neurodevelopmental disorders/neurodegeneration
        
        Loss of NADPH for glutathione reductase, which prevents the oxidative damage.
  - - - Management of neonatal Jaundice
        
        Phototherapy
        
        Exchange blood Transfusion
      - Children/Adults
        
        Exchange Blood Transfusion
        
        To reduce hemolytic enzymes that affects pt blood
        
        Supportive Care
- - - - Infant has vomiting
        
        Hepatomegaly
        
        Jaundice can occur but not a main sign like the others.
        
        Lactic Acidosis :!:
        
        Decreased glycolysis will increase fermentation to make more ATP.
        
        Usually after fructose or sucrose
      - Failure to thrive: Failing to meet Growth curves
      - Lethargy
      - Hypoglycemia
        
        Reduced sugars result in low sugars in the blood
  - - - 1:20,000 to 30,000
  - - - Can't break down Fructose-1-phosphate; toxic buildup in liver and kidneys
        
        Buildup depletes phosphorus stores and decreased glycogenolysis.
  - - - Treatment: Infusion of IV dextrose
        
        Correct metabolic derangements during initial or subsequent episodes
        
        Avoidance of fructose, sucrose, or sorbitol containing foods
        
        Multivitamin supplementation due to reduced intake of certain food.
        
        Be careful of sorbitol bc it goes down the same pathway: In sugar free food.
        
        Medication/ Vaccination review for toxicity
- - - - Bloating
        
        Flatulence
      - Diarrhea
      - Cramping
  - - - Primary- develops as breastfeeding decline (most common)
      - Secondary - after GI illness, antibiotics or chemo
      - Congenital - very rare, presents in neonatal period
      - Developmental - in premature babies don't yet make the enzyme.
    - - Unabsorbed lactose stays in lumen so bacteria break it down
        
        Gas production from bacterial breakdown of lactose
        
        Bloating and Flatulence
        
        Osmotic diarrhea from excess lactose sitting
  - - - Lactase supplements
        
        Calcium and vita D supplements
- - - - Jaundice - any jaundice after two weeks is not good. So, both after 3 months
        
        Hepatomegally - jaundice and hepatomegally :!:
        
        Hepatosplenomegally
    - - Failure to thrive
    - - Could be seen in Tay Sachs but is more suggestive of Neiman Pick.
  - - - 3 types:
  - - - Accumulation of it in tissues ; liver, CNS, lungs
        
        Type C also accumulates lipids in cells
  - - - Skin biopsy for genetic testing
    - - Miglustat may provide some benefit at slowing progression.