brain tumors and lysosomal storage diseases

[obiwan]

Does anybody have any tips or tricks on trying to master these things or what is most high yield to learn?

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[Miler407]

I'm studying for step I too, so take this for what its worth:
Highest yield
Gaucher: most common dz according to 1st aid
tay sachs: everyone has hear of this even before med school
Niemann pick: great pneumonic in 1st aid: no mann picks his nose with his sphinger
Knowing that Fabry's is X-linked I feel would also be high yield

Mucopolysacchs
knowing both hunters and hurlers is easy b/c they are essentially the same dz, just hurlers is milder and hunters is X-linked (hunters aim for the X)

Sorry, can't help you with brain tumors, I'm not looking over those for another 2 weeks yet!

 

[78222]

Pretty much what he said ^^ in regards to lysosomal storage disease. Also don't forget that Gaucher's has "crumpled paper" macrophages and try to be able to distinguish between Tay Sachs and Nieman Pick (NP is the only one with hepatosplenomegaly).

As for brain tumors, I'd just try to remember which ones are most common and how they might commonly present (i.e. meningiomas - seizures).

 

[Pathinterpreter]

Lysosomal storage diseases

FABRy
Fibers (neuropathy)
Angiokeratoma
Beat (cardiac dz)
Renal dz

GAucHer - No brain involvement
Gaucher cells (wrinkled paper)
Aseptic necrosis of femur
Hepatosplenomegaly

N. PiCk
Neurodegeneration
"Patosplenomegaly"
Cherry red spots

TAy SAChs
Tamaño (Size in spanish)
Amaurosis
Skin (lisozymes with onion skin)[don't understand this, please somebodyexplain]
Ashkenazi jews
Cherry red spots

kraBBe'S - peripheral neuropathy too
Blind (optic atrophy)
Size (developmental delay)

HURLEr
High (developmental delay)
Ugly (gargoylism)
Respiratory obstruction
Eye (corneal clouding)

hunTEr - Mild hurler plus:
Tiguere (aggresive behavior in spanish)
Eye (NO corneal clouding)
--------------------------------
Brain tumors

AME - Most common brain tumors in adults and children in order of frequency:

Adults:
Astrocytoma (Glioblastoma)
Meningioma
Eight nerve (Shwannoma)

Children:
Astrocytoma (pylocitic)
Medulloblastoma
Ependymoma

Hope this helps.

 

[Blesbok]

• Glycogen storage disorders
  • All disorders are AR
  • vonGierke (type I)
    • Glucose-6-phosphatase deficiency
    • Symptoms
      • Severe Hypoglycemia
      • Lactic acidosis
      • Hepatosplenomegaly
      • Hyperuricemia and hyperlipidemia
        • Due to increased activity of hormone sensitive lipase from hyperglycemia
  • Pompe (type II) (Pompe damages the Pump)
    • a-1,4-glucosidase (acid maltase) deficiency
      • Found in lysosomes, results in buildup of glycogen in lysosomes.
    • Symptoms
      • NORMOglycemic
      • Hepatosplenomegaly
      • Hypotonic
      • Cardiomegaly
        • Cardiac failure by 3yo
  • McArdles (Type V) (McArdles damages the Muscle)
    • Muscle glycogen phosphorylase deficiency
      • Usually activated by Ca
    • Symptoms
      • Myoglobinuria
      • Muscle pain on exertion
      • No rise in lactate after exercise
      • Increased muscle glycogen
  • Cori/forbe disease
    • Anderson's=Branching enzyme. Cori's=Debranching enzyme.
    • Debranching enzyme deficiency
      • Buildup of glycogen with a bunch of 1 saccharide branches (a-limit dextrins)
    • Symptoms
      • Hepatomegaly
      • Muscle weakness
      • Hypoglycemia
        • Secondary hyperlipidemia
      • Lactic acidosis
      • ABNORMAL glycogen structure
  • Andersen's disease
    • Anderson's=Branching enzyme. Cori's=Debranching enzyme.
    • Branching enzyme deficiency
    • Cirrhosis leading to liver failure and death

• Lysosomal storage diseases (AR unless noted)
  • I Cell disease
    • Defect in phosphorylation of mannose residues in the golgi
    • Lysosomal enzymes are dumped extracellularly
    • Lysosomes cannot degrade material and become large inclusion bodies
    • Psychomotor ******ation
  • Mucopolysaccharidosis
    • Hurler (type I)
      • Alpha-L-iduronidase deficiency
        • Lysosomal accumulation of heparin and dermatan sulfate
      • HURLER'S:
        • Heptosplenomegaly
        • Ugly facies
        • Recessive (AR inheritance)
        • L-iduronidase deficiency (alpha)
        • Eyes clouded
        • Retarded
        • Short/ Stubby fingers
    • Hunter (type II)
      • Iduronate sulfatase deficiency
        • X-linked (only found in males, so heparan sulfate in females is hurlers)
      • Lysosomal accumulation of heparin and dermatan sulfate
      • Symptoms (more mild than hurler)
        • Course facial features
        • Mental ******ation
        • Corneal clouding
        • Coronary artery disease
        • Vacuoles in lysosomes
  • Fabry disease
    • a-galactosidase A deficiency
      • Ceramide accumulation
    • X-linked
    • FABRY
      • Foam cells found in glomeruli and tubules
      • Febrile episodes
      • Acroparasthesia (numbness in fingers)
      • Alpha galactosidase A deficiency
      • Angiokeratomas
      • Burning pain in extremities
      • BUN increased in serum
      • Renal failure
      • Y chromosome (must have a Y chromosome because it is X linked)
      • Sphingolipidoses
    • Symptoms
      • Angiokeratomas (1-10mm blue-black papules on the skin)
      • Numbness and burning in fingers (acroparasthesia)
      • Hypohidrosis (low sweating resulting in overheating)
      • Renal and cardiac failure
  • Neimann-Pick
    • Deficiency of sphingomyelinase
      • High levels of phosphatidylcholine/sphingomyelin
    • AR in ashekani Jews
    • Symptoms
      • Cherry red macula
      • Loss of developmental milestones after 6mths
      • Hepatosplenomegaly (differs from tay-sachs)
  • Tay-sachs
    • Deficiency of hexosaminidase A
      • GM2-ganglioside buildup
    • AR in ashekani Jews
    • Cherry red macula
    • NO hepatosplenomegaly
    • Muscle weakness
  • Sandhoff
    • Deficiency of hexosaminidase A and B
  • GaUcher
    • Deficiency of GlUcocerebrosidase
    • Symptoms
      • Erlenmeyer flask deformity of femur
        • Large "crinkled paper" macrophages in bone
      • Hepatosplenomegaly
  • Metachromic Leukodystrophy
    • Arylsulfatase A deficiency
      • Sulfatide accumulation
      • Decreased arylsulfatase in urine
    • Abnormal myelin
      • Mental ******ation
      • Peripheral neuropathy
  • Krabbe's disease
    • B-galactosidase deficiency
      • Galactocerebrosides
    • Globoid bodies in brain white matter
    • Psychomotor ******ation

• Peroxisomal Disease
  • Responsible for metabolism of very long chain fatty acids (VLCFA)
    • Beta oxidation
  • Odd branched chain fatty acids
    • Alpha oxidation
  • Other fatty acids are oxidized in the mitochondria
  • Adrenoleukodystrophy
    • X-linked
    • Defect in VLCFA metabolism
    • Adrenal insufficiency
    • Myelination problems
  • Zellweger syndrome
    • Inability to form myelin
    • Symptoms
      • Hypotonia
      • Seizures
      • Hepatomegaly
      • Death
  • Refsum disease
    • Defect in omega oxidation in peroxisomes
      • ODD-branched chain FAs
    • Accumulation of phytanic acid
    • AVOID CHLOROPHYLL
      • Symptoms
        • Dry skin
        • Retinitis pigmentosa
        • Ataxia

 

[PrussianBlue1]

besides Tay-Sachs which one is the other associated with this Jewish population. I got a question on that onceee

 

[Blesbok]

besides Tay-Sachs which one is the other associated with this Jewish population. I got a question on that onceee

Besides my inability to spell it correctly, neimann pick is associated with Ashkenazi jews.

 

[Miler407]

Besides my inability to spell it correctly, neimann pick is associated with Ashkenazi jews.

I think I read that Gaucher is also associated with Ashkenazi. If so, then tay sachs, niemann pick and gaucher all seen in Ashkenazi, just to sum it all up

 

[PrussianBlue1]

Besides my inability to spell it correctly, neimann pick is associated with Ashkenazi jews.

lol ashkenazi is tricky... my mind registers it as A*#*%enazi

 

[Blesbok]

lol ashkenazi is tricky... my mind registers it as A*#*%enazi

For the entire first semester of med school whenever I saw it I would always read "ashenki jews" in my head, until one day I actually looked at it long enough to sound it out. As you can see from my notes, I still spell it incorrectly.

 

[TheEleventhReel]

try to be able to distinguish between Tay Sachs and Nieman Pick (NP is the only one with hepatosplenomegaly).

QUOTE]

Definately know this. My ONE question on storage diseases made you differentiate b/t these two.

 

[blz]

I had one lysosomal disease question on my test and I remembered it being rediculously easy. I wouldn't overdue it on this topic. I reviewed them the morning of my test because I always forgot them every other time i tried learning them.