Important knowledge

Muddy brown cast

Ring sidroblast MDS

⚡️FBN1 gene on chromosome 15 response for marfan syndrome

ملف مقدس مهم جدا (باطنية )

Croup

⚡️Dose of blood transfusion in children -------------------------------------- ▪︎ whole blood 20ml/kg وننطي وياه لازكس ▪︎ packed cells 10ml/kg ☆اذا heart failure ننطي نص ال dose سواء Whole او RBC مع المدرر ▪︎ plasma 10-15ml/kg ▪︎Crioprecipitate 4 ml/kg (1pint for each 5kg) ▪︎platelate 10 ml/kg

Spinal needle (LP) Indication / Contraindication/ same C.E for LP

NG tube

⚡️achondroplasia ------------------------- 🛑 Autosomal dominant 🛑clinical features: ▪︎Shortened arms and legs, with the upper arms and thighs more affected than the forearms and lower legs ▪︎Large head size with a prominent forehead and a flattened nasal bridge ▪︎Crowded or misaligned teeth ▪︎Curved lower spine, a condition also called lordosis (or sway-back) which may lead to kyphosis, or the development of a small hump near the shoulders that usually goes away after the child begins walking ▪︎Small vertebral canals that may lead to spinal cord compression in adolescence ▪︎Bowed lower legs ▪︎Flat feet that are short and broad ▪︎Extra space between the middle and ring fingers (also called a trident hand) ▪︎Poor muscle tone and loose joints ▪︎Frequent middle ear infections that may lead to hearing loss ▪︎Delayed developmental milestones — for instance, walking may occur between 18 to 24 months of age instead of around 12 months

⚡️ leukemia Pathognomonics -------‐--------- ▪︎AML = Auer rods ▪︎CLL = Smudge cells

Fanconi Anemia اشهر الاسباب الوراثية ل pan cyto penia نوع الوراثة مالتها يكون AR مشاكلها هواي ، ابرزها Risk of CA ( AML , MDS , EPITHELIAL TUMOR = SCC OF HEAD AND NECK ) Highly Radio-Sensitive & Alkylating agents sensitivity لذلك ندزهم mri بدل ct Most common cong. Anomaly = skeletal و تحديدا tri-dactyly thumb شغلات اخرى تهمني 1 Short Stature 2 Microcephaly 3 Broad Nasal Bridge 4 Epicanthal folds 5 micro-gnathia 6 Thumb attached by thread 7 Dislocated Hip 8 hypopig. Lesion 9 cafe au lait spots ال BM Failure حيصير ب 1st decade بالبداية يجيك plt ⬇️⬇️ بعدين neutropenia و اخر شي anemia ال Dx يتم اثباته ب Lymphocyte chromosomal breakage study شني علاجة ? 1- mild to moderate hemato. Abnormalities = no need for transfusion Just follow up by - periph. Blood count every 3 months - BM Aspiration every 1 year - screening for hypothyroid. - assess solid tumors 2- chromos. Fragility +- targeted genetic study for siblings 3- HSCT 4- ANDROGEN ( Danazol / Oxymetholone )

Flaky paint rash Kwasiorkor

Stork bite hemangioma

⚡️Celiac serology ------------------------------ ▪︎Anti - TTG antibodies (IgA ) هذا ال IgG مالته ميفيد طلع صاعد نازل ميعني شي ومنعتمد عليه ▪︎Anti-endomysial antibodies (IgA ) ذني ندز وياهن (IgA level) اذا طلع المريض عندة IgA deficiency فافضل فحص اله هو ▪︎De-amelated gliden peptide IgG

rocker bottom feet Edward's syndrome (trisomy 18)

⚡️Kawasaki disease ----------------------- Is systemic vasculitis for Unknown etiology. 🛑 age : more in children 6m to 4 years Especially in the end of first year More severe and atypical(not all features present) in young children. 🛑the most important thing in this disease is early diagnosis and early prompte treatment due to risk of aneurysm of coronary arteries ➡️ inflammation ➡️narrowing (scar formation)➡️myocardial ischemia ➡️sudden death. 🛑 clinical features(criteria): high fever (difficult to control) more than 5 days & 4 of 5 of the following criteria : 1-conjunctivitis ( severe red eye) 2-pharyngeal injection [enlarged cervical lymph nodes in other references] 3-red dry cracked lips. 4_skin rash (polymorphus) 5_red edematous palm and sole with peeling of fingers and toes. 🛑DX : clinically only  (no diagnostic tests) 🛑suppprtive tests: 1–very high c-reactive protein 2–high ESR 3–high WBC 4–high platelets count in (2nd week )of disease 🛑most important and serious complications of kowalski disease are: 1–aneurysm of coronary arteries (and other arteries) 2–myocarditis and endocarditis 3–gallop rhythm By ECHOCARDIOGRAM 🛑TX : 1–IVIG for first 10 days of illness (((🛑to reduce risk of aneurysm ))) 2–high anti inflammatory dose of aspirin for fever until subside then low anti platelets dose until ECHO study do afrer 6 weeks If no aneurysm stop aspirin If aneurysm present give long term warfarin. 3–if fever persists after treatment we shoulde give second IVIG dose 4–if fever and symptoms persist we should give Steroid , infliximab , cyclosporine

Paul-Mikulicz stoma ------------------- تختلف عن ال double barrel انه ال ال 2 lobes تنفتح وحدة بصف الثانية وال posterior wall مربوط وحدة بالثانية اما بال double barrel فينفتحن منفصلات وحدة عن اللخ وبيناتهن skin