"Optimism is the faith that leads to achievement. Nothing can be done without hope and confidence." - Helen Keller

Epyndymoma

Children
4th ventricle
Solid, pupillary mass extending from floor of 4th ventricle.

Micro: uniform cells with round nuclei in a fibrillation stroma are arranged in a perivascular pseudo rosette formation; commonly have blepharoplasts.

Obstructive hydrocephalus; seizures, nausea, vomiting, headaches, increased Intracranial PRESUre.

Minimal change disease

After: viral URI

Ass. with Hodgkin disease, hypersensitivity reactions

Most commonly occurs in children

LM: N glomeruli; lipid accumulation in renal tubular cells
EM: fusion of epithelial foot processes.

Nephrotic syndrome

Treat: prednisone,

Beta-thalassemia

Point mutation in the beta-globin gene==> reduced or even absent at all beta-globin chain.

Blood smear: target cells, anisopoikilocytosis; hypochromic, microcytic erythrocytes.

2 variants:
1) minor ( heterozygous ) : mild anemia, decreased MCV
2) major ( homozygous ): severe hemolytic anemia, decreased MCV, in infants; splenomegaly, bone abnormalities, hemosiderosis and => HF; increased Hb F.

Alpha-thalassemia

One or more genes coding the alpha-globin chain of Hg is deleted.
Blood smear: target cells; hypochromic, microcystic erythrocytes.

4 variants:
1) 3-4 N genes - no symptoms
2) 2 N genes -----mild anemia, decreased MCV
3) Hg H disease,only 1 N gene------severe hemolytic anemia, MCV<70, splenomegaly
4) hydrous fetalis, NO N genes, stillbirth

Chronic granuloma tours disease of childhood

X-linked or aut-recess

Defects in genes coding components of NADPH oxidase.

Myeloperoxidase-halide system is necessary for neutrophils to fight against bacteria.
Myeloperoxidase-halide system need H2O2 to function, which is produced by bacterial metabolism and by NADPH oxidase.

Catalase + bacteria can destroy the H2O2.
So..
NO NADPH oxidase. =====>. NO H2O2 =====> catalase + bacteria stay alive. ====>>>>> marked susceptibility to such infections: E.coli, St. aureus, Serattia, Aspergillus


Negative nitroblue tetrazolium dye reduction test

Common variable immunodeficiency

Intrinsic B-cell defect that prevents terminal maturation into Ab-secreting plasma cells.

Onset: adolescence, early adulthood

Spleen liver, lungs, skin: Noncaseating granuloma.
Increased incidence of pyogenic infection
Sprue-like GI syndrome

High risk of occurrence of B-cell neoplasms, gastric carcinoma, skin cancer.

DECREASED IgG
All Classes will be eventually affected.

Capillary hemangioma

Most common tumor of malignancy, port wine stain birthmarks

Von Hippel-Lindau Disease

Aut-Dom
Deletion of VHL gene on Chr. 3p.

Hemangiobladtomas, cavernous hemangiomas of the:
- cerebellum
- brain stem
- retina

Multiple cysts & adenomas of liver, kidney, pancreas

Initial signs: headaches, loss of vision, ataxia.

Gestational chorecarcinoma

From:
- complete hydatidiform mole
- abortion
- ectopic pregnancy
- may bee seen in N pregnancy

Excessive bleeding after abortion or evacuation of hydatidiform mole.
May be seen hemoptysis owing to hematogenous spread to the lungs.

HIGH HCG

Hydatidiform mole

Complete - 46 XX, Partial - 69 XXY

------Complete mole - grape-like clusters, hyperplasia of trophoblastic cells, honeycombed uterus, no fetal parts.
------Partial mole - edematous change of some villi, presence of fetal parts.

Nausea, vomiting, painless vaginal bleeding, hypertension during first trimester, uterine is too large for gestational age, snowstorm on US.

Viral Meningitis

  - HSV, Coxsackie virus, Echovirus, Arbovorus.

- headache, photophobia, neck stiffness, fever, irritability

- lumbar: lymphocytosis, N glucose, slightly elevated protein.