PediaMastery

DM , part one Diabetes Mellitus is a metabolic disorder characterized by chronic hyperglycemia due to absolute or relative insulin deficiency. Classification of Diabetes Mellitus in Children and Adolescents 1-(INSULIN DEPENDENT) A-Transient neonatal : Manifests immediately after birth; lasts 1–3 mo B-Permanent neonatal : Other pancreatic defects possible to be associated C-Classic type 1 : glycosuria, ketonuria, hyperglycemia, islet cell positive; genetic component 2-(NON-INSULIN DEPENDENT) A-Secondary :Cystic fibrosis, hemochromatosis, drugs (l-asparaginase, tacrolimus) B-Adult type (classic) : Associated with obesity, insulin resistance; genetic component. Definition of DM: Fasting Blood Glucose: >125 Normal is less than 100 Random BG (or after GTT): >200 Normal is less than 140 Hemoglobin A1C >/ 6.6%Typ Level between Normal & DM called is "Impaired Glucose Tolerance". TYPE 1 DIABETES MELLITUS Etiology T1D results from the autoimmune destruction of insulin-producing β cells (islets) of the pancreas. In addition to the presence of diabetes susceptibility genes, an unknown nvironmental insult presumably triggers the autoimmune process. Clinical Manifestations Hyperglycemia results when insulin secretory capacity becomes inadequate to enhance peripheral glucose uptake Insulin deficiency usually first causes postprandial hyperglycemia and then fasting hyperglycemia • Polyuria • Polydipsia • Polyphagia • Weight loss • Fatigue • Nocturia / enuresis ⚠️ First presentation may be DKA ملاحظة : الانسولين يعتبر انزيم بنّاء anabolic hormone ، يحول ال fatty acid to fats for storage ، يحول الاماينو اسد الى بروتين ، ويزيد من انتاج الglycogen ، لذلك راح يكون اكو Weight loss Outpatient Type 1 Diabetes Mellitus Management (without DKA) : Management of T1D in children requires a comprehensive approach with attention to medical, nutritional, and psychosocial issues. SC insulin is the standard therapy for T1DM. Insulin Regimens: For School-age children; because they depend on their relatives for injection, therefore the most commonly used schedule is 2 daily injections of short-acting + intermediate-acting insulin. 2 / 3 of total dose given in the morning & 1 / 3 in the evening. For Adolescents; because they can depend on themselves for injection, most commonly used schedule is long-acting insulin at bed time & very short-acting insulin before each meal.

Hypothyroidism GOLDEN KEYS Often asymptomatic at birth🔑 Prolonged neonatal jaundice🔑 Large tongue + umbilical hernia🔑 Hypotonia, poor feeding🔑 Abnormal newborn screening🔑 Constipation 🔑 Congenital hypothyroidism is a condition present at birth due to deficiency of thyroid hormones, leading to impaired growth and brain development if untreated. Etiology : -Primary (most common) due to defects in the thyroid gland or thyroid hormone receptors -Central (Hypopituitary) due to TSH or TRH deficiency or unresponsiveness. -Thyroid Dysgenesis; Female>Male. It is the most common cause of cong hypothyroidism (85%), it include: aplasia, hypoplasia, or ectopic gland Clinical Presentation Neonatal period: • Usually normal at birth (may be due to transplacental passage of maternal T4 ), thus early Dx is depend on neonatal screening tests • Prolonged jaundice • Poor feeding • Hypotonia • Constipation Classic features (late): • Large anterior fontanelle • Macroglossia • Umbilical hernia • Hoarse cry • Dry skin • Lethargy Dysmorphic features: open mouth, large protruded tongue, hypertelorism, depressed nasal bridge, short and thick neck, and fontanels are widely opened. Other features: birth weight & length are normal,, hypothermia (temp < 35°C), bradycardia +/_ heart murmurs, abdominal distention, umbilical hernia, cold mottled skin which is yellow in color (due to carotenemia in addition to jaundice), myxedema, hypotonia, & later on, delayed dentition. Investigations Neonatal Screening is mandatory. It depend on measuring serum T4 , if low, measure TSH, if high (>100 mU/L), this will confirm primary hypothyroidism, if TSH us low that means its central or secondary hypothyroidism - CBP macrocytic anemia which . -MRI is normal in primary hypothyroidism, but may be abnormal in central hypothyroidism. -Skull X-ray show large fontanels, wide sutures, wormian bones, and enlarged sella turcica. -US of neck can detect the site & size of thyroid gland. -ECG & EEG; both show low-voltage. Treatment . Levo-thyroxine (T4) The goal of replacement Rx is to bring levels of T4 & TSH to normal range which requires frequent monitoring at intervals; monthly in the first 6 mo of life, then every 2–3 mo up to 2 yr. Prognosis Thyroid hormones are very essential for brain development in the early postnatal months, thus early Dx & Rx is critical to prevent progressive neuropsychological sequelae. Note: If the oncet of hypothyroidism occur after 2 yr of age, there may be normal neurological development even if Dx & Rx are delayed.

🔑 GOLDEN KEYS • Short stature with normal body proportions • ↓ Growth velocity (most important clue) • Delayed bone age • Normal intelligence • Low IGF-1 and IGFBP-3 • Diagnosis confirmed by GH stimulation test

Growth hormone deficiency First of all what is growth ? It is the final common pathway of many factors, including endocrine, environmental, nutritional, and genetic influences What is the growth hormone ? Growth hormone (GH) protein secreted by the pituitary, pulsatile fashion stimulated by: GH-releasing hormone (GHRH), inhibited by somatotropin release–inhibiting factor (SRIF) or somatostatin In addition, GH secretion is also enhanced by α-adrenergic stimulation, hypoglycemia, stress, starvation, exercise, early stages of sleep. It is suppressed by β-adrenergic stimulation and hyperglycemia. What is short stature ? Short stature is defined as subnormal height relative to other children of the same gender and age, taking family heights into consideration. Short Stature Caused by Growth Hormone Deficiency : Classic congenital or idiopathic GH deficiency occurs in about 1 in 4,000 children. Less often, GH deficiency is caused by anatomic defects of the pituitary gland, such as pituitary aplasia Clinical Manifestations -Normal or near-normal birth length and weight at term -The growth rate slows after birth, most noticeably after age 2–3 years. -These children become progressively shorter for age and tend to have an elevated weight:height ratio. -GH deficiency often has a high-pitched voice resulting from an immature larynx. -The patient has normal intellectual growth and age-appropriate speech. -Male neonates with GH deficiency may have a micropenis -Patients who lack the adrenocorticotropic hormone (ACTH, stimulates cortisol) in addition to GH may have more profound hypoglycemia because cortisol also stimulates gluconeogenesis. كمختصر Clinical Presentation 👶🏻Infants: • Recurrent hypoglycemia • Prolonged neonatal jaundice • Micropenis (males) • Poor postnatal growth 🧒🏻Children: • Short stature • Low growth velocity • Immature (baby-like) face • Increased truncal fat • Delayed dentition Intelligence is normal 📏 Growth Pattern • Height < −2 SD • Growth velocity < 4–5 cm/year • Height below mid-parental target 🦴 Bone Age • Delayed compared to chronological age • Delay often by several years Laboratory: • ↓ IGF-1 • ↓ IGFBP-3 Gold Standard: GH stimulation test Random GH level not useful (pulsatile secretion) ❌❌❌ Treatment Recombinant hGH given by subcutaneous injection

Section III : PediaGlands “Small glands. Silent power. Lifelong impact . One hormone at a time.”

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Brucellosis Ingestion of unpasteurised milk +hepatospeenegaly 🔑🔑🔑 Exposure to animal 🔑 Normal or low WBC🔑 Intro zoonotic disease direct contact with an infected animal or by consumption of their meat or products (especially unpasteurized milk products) may occur by inoculation through cuts or conjunctiva, or by inhalation of infectious aerosols. Presentation : ⚠️⚠️The most consistent part of hx is the direct contact with an infected animal or by consumption of their meat or products.🔑 Symptoms are usually non-specific & vague e.g. fever, night sweats, anorexia, headache, fatigue, arthralgia, rash, abdominal pain, diarrhea, vomiting, cough, and pharyngitis. Some patients may present with only FUO 🔑 Ex : Pyrexia, pallor, skin rash, arthritis , LAP, & HSM.🔑🔑 Investigation : -CBP : Pancytopenia, ( anemia, neutropenia, & thrombocytopenia) -Culture of blood or any tissue of the reticuloendothelial system .(bone marrow cultures is the gold standard)⚜️ -Serology; Serum Agglutination Test (SAT) or Brucella Agglutination Test (BAT) but not for B. canis because it lacks the smooth LPS) Rx Older than 8 yeas : Doxycycline + Rifampin [or Streptomycin or Gentamicin]. Children younger 8 yr treated with TMP- SMZ + Rifampin. Patients with complication (osteomyelitis, endocarditis, meningitis )Doxycycline + Gentamicin +/_ Rifampin for 4-6 mo (except gentamicin for 1-2 wk).‼️‼️

Enteric fever (Typhoid fever) PROLONG FEVER + HSM +ROSE SPOT 🔑 Relative Bradycardia (Faget Sign)🔑 Toxic Look without Severe Local Signs🔑 Leukopenia on CBC🔑 Intro : Enteric fever is a systemic febrile illness Transmitted via fecal–oral route through contaminated food or water. Common in Developing countries Poor sanitation areas Affects: School-age children & adolescents Pathogenesis 1. Ingestion of Salmonella Typhi 2. Survives gastric acid 3. Invades Peyer’s patches in ileum 4. Enters lymphatics → bloodstream (primary bacteremia) 5. bacteria colonize the reticuloendothelial system • Liver • Spleen • Bone marrow 6. Re-enters bloodstream (secondary bacteremia) → fever & toxicity كون التاركت مال سالمنويلا هو reticuloendothelial ، راح نشوف HSM, وكذلك leukopenia Presentation : Week 1 Step-ladder fever Headache Malaise Dry cough Relative bradycardia (Faget sign) Constipation (more common than diarrhea)or begins as diarrhoea then constipation. Week 2 • High continuous fever • Abdominal pain • Hepatosplenomegaly • Rose spots (pink macules on trunk) • Toxic appearance Complications uncommon in children and include : - GIT : intestinal hemorrhage or perforation , hepatitis , cholecystitis. - Neurologic : delirium, psychosis, raised ICP, acute cerebellar ataxia, chorea, deafness, & GuillainBarre syndrome. - Respiratory; Pneumonia, empyema, bronchopleural fistula especially in patients with DM and sickle cell disease. - Cardiac; Endocarditis, myocarditis, pericarditis, arteritis. - Bone and joint; Osteomyelitis, septic arthritis especially in patients with DM and sickle cell disease. Investigation CBC Leukopenia (common) ,Mild anemia, Thrombocytopenia LFTs Mildly elevated AST / ALT Blood culture 1st week (Gold standard) Stool culture 2nd–3rd week Urine culture Bone marrow culture Most sensitive Widal test Retrospective / low specificity replaced with Monoclonal Antibodies that directly detect S. Typhi–specific antigens in serum or S. Typhi Vi antigen in urine. PCR Rx -Sever cases or those associated with Cxs should be admitted to hospital for adequate rest, hydration, nutrition , & antipyretics . - Antibiotic therapy include: -high dose Amoxicillin or -Chloramphenicol, both for 2-3 -or fluoroquinolone e.g. Ciprofloxacin. -Alternative agents include: 3rd generation cephalosporins or Azithromycin for 1 wk. Bacteremia 10-14 days Meningitis 28 days Osteomyelitis 4-6 weeks - Dexamethasone can be given for severely ill patients

Fever of Unknown Origin FUO : 1-A temperature >38°C 🤒 2-documented by a healthcare provider doctor 👨‍⚕️ 3-cause could not be identified after at least 8 days of evaluation. ❌ Pseudo-FUO : successive episodes of benign, self-limited infections with fever that the parents perceive as 1 prolonged fever episode. fever without a source : No cause is elicited after 7 days of evaluation. Mostly , its A common disease presenting in atypical way Causes : 1- Infectious: - it’s the most common (about 30-40%). 2- connective tissue and Autoinflammatory (about 25%) : Juvenile idiopathic arthritis , systemic lupus erythematosus … 3-Neoplasm : lymphoma , leukaemia. 4- Miscellaneous causes A- Gastrointestinal :hepatitis and pancreatitis B- Endocrine/metabolic Thyrotoxicosis, phaeochromocytoma, adrenal insufficiency, hypertriglyceridaemia C-Haematological : thrombotic thrombocytopenic purpura, myeloproliferative disorders, graft-versus-host disease D- Inherited Familial Mediterranean fever and periodic fever syndromes E-Drug reactions Antibiotic fever, drug hypersensitivity reactions , Discontinuation of the drug is associated with resolution of the fever, generally within 72 hrs. 5- Factitious:- Manipulation of the thermometer by the patient or parent. Diagnosis : History : Duration & character of fever Recent travel Exposure to pets and other animals or unpasteurized milk Presence of Skin rash, arthritis (SLE , Juvenile arthritis ) Presence of cough ,wt. loss Lymph node (lymphoma, Leukemia) Contact with other people with similar symptoms Past medical history list of medications Character of fever : -Pel–Ebstein fever is a cyclical fever pattern characterized by: Several days of high fever Followed by several days of afebrile period Repeats in a regular cycle Seen in Hodgkin Lymphoma -Fever with relative bradycardia (faget sign) Fever is present but Heart rate fails to increase appropriately. Most common in Typhoid fever Brucellosis Legionella pneumonia Mycoplasma pneumonia Chlamydia pneumonia -Relapsing–Remitting Fever Pattern : Tuberculosis Brucellosis -Fever in Malaria : classically periodic, every 48 h ( simple tertian) Every 72 h ( quatran ) Investigations:- 1- Complete blood cell count (CBC). 2- Direct examination of the blood smear with stain can reveal organisms . 3- Erythrocyte sedimentation rate (ESR) ,C-reactive protein (CRP) 4- cultures:- Multiple or repeated blood cultures , Urine culture . 5- Tuberculin skin testing (TST) if TB is a suspicion. In children >2 yr old, test for tuberculosis using an interferon-γ release assay (IGRA). 6- Others : -Serological tests Autoantibody screen Complement levels -Echocardiography Ultrasound of abdomen CT/MRI of thorax, abdomen and/or brain -Imaging of the skeletal system Plain X-rays, CT/MRI spine, Isotope bone Labelled white cell scan Positron emission tomography (PET) Biopsy : Lymph node aspirate or biopsy of liver , Bone marrow aspirate and biopsy Rx Antibiotics and corticosteroids may mask the patterns of fever response Base empiric treatment with antibiotics on the severity of illness. After a complete evaluation, antipyretics may be indicated to control fever associated with adverse symptoms.

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