Medical Brain

Neurofibromatosis Type 1 aka Von
Recklinghausen Disease (NF1 gene mutation on
Chromosome 17)

Quick CBC Decode

👉1. Neutrophilia (Increased Neutrophils): -
Bacterial infections -
Inflammation -
Myeloproliferative disorders

👉2. Neutropenia (Decreased Neutrophils): -
Drug-induced -
Autoimmune conditions (e.g., SLE) -
Bone marrow disorders

👉3. Lymphocytosis (Increased Lymphocytes) -
Viral infections -
Chronic lymphocytic leukemia (CLL) -
Lymphomas

👉4. Monocytosis (Increased Monocytes) -
Chronic inflammation (e.g. IBD) -
Chronic infections (e.g. TB) -
Myelodysplastic syndromes

👉5. Eosinophilia (Increased Eosinophils) -
Allergic disorders -
Parasitic infections -
Hypereosinophilic syndrome

👉6. Thrombocytosis (Increased Platelet Count) -
Iron-deficiency anemia -
Splenectomy -
Essential thrombocythemia

👉7. Thrombocytopenia (Decreased Platelet Count) - Immune thrombocytopenic purpura (ITP) -
Drug-induced (e.g., heparin)
Bone marrow disorders

👉8. Macrocytosis (High MCV) -
Vitamin B12 deficiency -
Folic acid deficiency -
Alcoholism

👉9. Microcytosis (Low MCV) -
Iron-deficiency anemia -
Thalassemia -
Anemia of chronic disease

👉10. High MCH -
Macrocytic anemia -
Drugs - Alcoholism Low MCH:
Iron deficiency anemia,
Thalassemia

👉11. Low MCHC -
Iron-deficiency anemia -
Sideroblastic anemia -
Thalassemia

👉12. High MCHC -
Hereditary spherocytosis in (AFP)
Antigen (PS - Autoimmune hemolytic anemia -
Burn

👉13. Reticulocytosis (Increased Reticulocyte Count) - Hemolytic anemia -
Recovery from bone marrow suppression -
Response to erythropoietin therapy

👉14. Reticulocytopenia (Decreased Reticulocyte Count) -
Aplastic anemia -
Pure red cell aplasia-
Nutritional deficiencies

:-
A severe condition in which a large part of the skull is absent along with the cerebral hemispheres of the .

Etiology:- low Folate level prior to conception
Fetus will have ”frog-like” appearance and maternal polyhydramnios (increase level of amniotic fluid)

Diagnosis ?

disease (PKD) is an inherited disorder in which clusters of cysts develop primarily within your kidneys, causing your kidneys to enlarge and lose function over time.
are round sacs containing fluid. The cysts vary in size, and they can grow very large. Having many cysts or large cysts can damage your kidneys.
Polycystic kidney disease can also cause cysts to develop in your liver and elsewhere in your body. The disease can cause serious complications, including high blood pressure and kidney failure.
PKD varies greatly in its severity, and some complications are preventable.

Lifestyle changes and treatments might help reduce damage to your kidneys from complications.

This is a case of 57 year old male who was apparently alright but he suddenly developed chest pain while working out and became unconscious. He was then brought to our hospital and declared brought and the body was sent for -mortem examination.

On autopsy, there was e/o 130 ml of blood clot in cavity surrounding the heart.

On further examination, there was rupture of (posterior) wall segment of left ventricle.

On further , there were areas of infarcted myocardium with thinning and of left ventricular wall at the rupture site.

Final opinion regarding cause of death: due to rupture of left ventricular wall.

A gallstone is a formed within the out of precipitated components. Gallstone disease refers to the condition where gallstones are either in the or common bile duct. The presence of stones in the gallbladder is referred to as . Presence of gallstones in the common bile duct is called .

A characteristic symptom of a gallstone attack is the presence of colicky pain in the upper-right side of the abdomen, often accompanied by nausea and vomiting. The pain steadily increases for approximately 30 minutes to several hours. A person may also experience referred pain between the shoulder blades or below the right shoulder. Often, attacks occur after a particularly and almost always happen at night, and after drinking. In addition to , , and , a person may experience a fever. If the stones obstruct the duct and cause to leak into the bloodstream and surrounding tissue, there may also be jaundice and itching. If this is the case, the liver enzymes are likely to be raised