Immunodeficiencies

Posted on 30 July، 2019 Tagged PediatricsLeave a comment

Humoral deficiencies
X-Iinked agammaglobulinemia	Rx Severe Infections (Bacterial / Viral)	No B cells or Immunoglobulins
Common variable immunodeficiency		Normal B cells but ⤵️ Immunoglobulins
IgA deficiency		Normal B cells Only ⤵️ IgA
Hyper-IgM syndrome		Normal B cells ⤵️ IgG & IgA ⤴️ IgM
IgG subclass deficiency		Normal B cells ⤵️ IgG

	Common variable immunodeficiency
Clx	Rx infections Autoimmune (RA, thyroid) Chronic lung disease (Bronchiectasis) Gl disorders (Chronic diarrhea, IBD-like conditions)
Dx	⤵️ lgG, lgA/lgM No response to vaccination
Tx	Immunoglobulin replacement therapy

	X-Iinked agammaglobulinemia
Clx	Rx sinopulmonary & GI infections after age 6 months Absence of lymphoid tissue on PEx (Tonsils, lymph nodes)
Dx	⤵️ Immunoglobulins & B cells ⓝ T cell concentration No response to vaccinations
Tx	Immunoglobulin replacement therapy Prophylactic antibiotics if severe

	Selective lgA deficiency
#	Most common immunodeficiency
S/S	Usually Asx Recurrent sinopulmonary & GI infections Anaphylaxis during transfusions
Dx	Absent IgA (other immunoglobulins are ⓝ)
Tx	Supportive care (Make sure they have a label for transfusions)

Features of leukocyte adhesion deficiency

Recurrent skin & mucosal bacterial infections (Omphalitis / periodontitis)

· No pus → neutrophils can’t go to inflammation site

· Poor wound healing

Delayed umbilical cord separation

Marked peripheral leukocytosis with neutrophilia

	DiGeorge syndrome/velocardiofacial syndrome
Path	Chromosome 22q11.2 deletion Defective development of pharyngeal pouches
Clx	· Cardiac defects (ToF, truncus arteriosus) · Abnormal face (cleft palate) · Thymic aplasia (T-cell deficiency) · Hypoparathyroidism (⤵️ Ca+(

	Chronic granulomatous disease
Inheritence	X-Iinked recessive
Clx	Recurrent infections w/ Catalase-positive 👾 (S.aureus, Serratia, Burkholderia, Aspergillus)
Dx	Neutrophil function testing · Dihydrorhodamine 123 test · Nitroblue tetrazolium test

	Wiskott-Aldrich
Cause	XR defect in WAS protein gene
Path	Impaired cytoskeleton in leukocytes, platelets
Clx ∆	Eczema Micro-thrombocytopenia (⤵️ PLT #) Recurrent infections
Tx	Stem cell transplant

	Severe Combined Immunodeficiency
Cause	· Gene defect leading to failure of T cell development · B cell dysfunction due to absent T cells
Inheritance	X-Iinked recessive / Autosomal recessive
Clx	Recurrent, severe viral, fungal, or opportunistic infections Failure to thrive / Chronic diarrhea
Tx	Stem cell transplant

Endocrine Disorders

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Type 1 DM
Onset	Bimodal distribution (Age 4-6 / Age 10-14)
Path	Destruction of pancreatic beta islet cells
Clx	· Polydipsia · Polyuria, nocturia, enuresis · Weight loss · Fatigue · Blurred vision
Tx	Insulin replacement

Infants of Diabetic Mothers (IDM)
?	Born w/ hypoglycemia / polycythemia
S/S	· Macrosomia (BIG) · Small Left Colon Syndrome · Cardiac Abnormalities · Asymmetric septal hypertrophy due to obliteration of the left ventricular lumen, → ⤵️ CO · Dx: EKG + Echo · Tx: BB + IVF · Renal vein thrombosis · Flank Mass · Bruit · Hematuria + ⤵️ PLT · ⤴️ Risk for Shoulder dystocia
Dx	Sugar levels (⤵️ Glu)
Tx	NEVER EVER GIVE INSULIN ✳️ ✳️

Cong Adrenal Hyperplasia

Path

Steroid hormones def

S/S

· Hypotension with severe electrolyte abnormalities.

· Umbigous genitalia 💁🏻‍♀️ / ⓝ in 🤵🏻

· MC def: ⤵️ Na / ⤴️ K+

· Cortisol: ⤵️ Glu

Types

Clinical phenotypes of 21-hydroxylase deficiency

	Classic, salt-wasting	Classic, non-salt-wasting	Non-classic, delayed
Degree Of deficiency	Severe	Moderate	Mild
Clx	Girls present at birth with ambiguous genitalia Boys present at 1-2 weeks with failure to thrive, dehydration. hyperkalemia & hyponatremia	Girls present at birth with ambiguous genitalia Boys present at 2-4 years with signs Of early virilization	Premature pubarche or sexual precocity in school-age children Young wornen can present with acne, hirsutism & menstrual irregularity

· meausre electrolytes

· 17-OH progesterone levels.

· Fluid rescusitation

· Lifelong Steroids therapy (MC / GC)

· Psychiatric consultation

Nonclassic CAH
Path	· AR · ⤵️21 -hydroxylase activity · GCS & MCS · ⤴️Androgens
Clx	· Early pubic/axillary hair growth · Severe acne · Hirsutism & oligomenorrhea in girls · t Growth velocity & bone age · Precocious Puberty · 17-hydroxyprogesterone level
Tx	· Hydrocortisone

Classic CAH
Path	Autosomal recessive 21 -hydroxylase deficiency
Clx	Salt-wasting syndrome in neonatal boys & girls o Hypotension o Dehydration o Vomiting Ambiguous genitalia in girls
Labs	⤵️Sodium, ⤴️potassium, ⤵️glucose ⤴️17-a-hydroxyprogesterone
Tx	Glucocorticoids & mineralocorticoids High-salt diet Genital reconstructive surgery for girls Psychosocial support

Rickets

Vit D def in peds (or vit D is not working)

S/S

· Prone to fx

· Bowing of legs

· علامة المسبحة على الصدر

Type	Path	Ca	Ph	1,25(OH) 2 Vit. D	25(OH) Vit. D
Vitamin D deficient	no Vit D in diet	ⓝ / ⤵️	⤵️	⤵️	⤵️
Vitamin D dependent	pt cant convert vit D to active form	⤵️	Normal	⤵️	Normal
X-linked ⤵️ Ph	pt lose Ph in urine → bone loss	Normal	⤵️ ⤵️	Normal	Normal

Replacement

(if baby is breastfed only → supply vit D begining of 2 months)

Nutritional rickets in children
RF	· Exclusive breastfeeding · Inadequate sun exposure · Increased skin pigmentation · Maternal vitamin D deficiency
Clx	· Craniotabes (“ping-pong ball” skull) · Widening of wrists · Delayed fontanel closure – Frontal bossing · Hypertrophy of costochondral joints (“rachitic rosary’) · Femoral & tibial bowing once weight-bearing
Dx	· Serum calcium; phosphorus; ALP; PTH; · 25-hydroxy vitamin D; – I ,25-dihydroxy vitamin D · Radiography
Tx	· Vitamin D & calcium supplementation

Rheumatology/MSK Disorders

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Septic Arthritis in children 👶🏼
Clx	· Acute onset of fever and joint pain · Fatigue or malaise · Refusal to bear weight due to pain
PEx	· Erythema of the overlying skin · Warmth and swelling of the joints · Pain with active and passive range of motion
Labs	· ⤴️ WBC · ⤴️ ESR & CRP · Synovial fluid WBC > 50,000 cells/uL
Tx	Age: < 3 months Organisms: Staphylococcus, group B Streptococcus & gram negative bacilli Antibiotic: Antistaphylococcal agent (Nafcillin or Vancomycin) PLUS (Gentamycin or Cefotaxime) > 3 months Organisms: Staphylococcus, group A Streptococcus & Streptococcus pneumoniae Antibiotic: (Nafcillin or Clindamycin Cefazolin or Vancomycin)

Osteomyelitis in 👶🏼s
Pt	👾	Abx
Healthy	Staphylococcus aureus	If MRSA → Clindamycin OR vancomycin If MRSA less likely → Nafcillin/oxacillin
w/ Sickle cell	Salmonella spp Staphylococcus aureus	As above + ceftriaxone, cefotaxime

Osteomyelitis in 👶🏼
Path	Hematogenous spread
👾	Staphylococcus aureus If SCA → Salmonella
S/S	Fever, irritability (vs. SCFE, no fever) Limited function (eg, limp) Bony tenderness, swelling
Dx	⤴️ ESR, CRP, WBC Blood Cx X-ray (often ⓝ), MRI Definitive: Bone biopsy/culture
Tx	Antistaphylococcal Abx(Vancomycin) If SCA → Add 3rd-gen cephalosporins

Juvenile idiopathic arthritis
Clx	· Symmetric arthritis for at least 6 weeks · Polyarticular: 25 joints involved · Oligoarticular: <5 joints involved
Labs	· ⤴️ Inflammatory markers (ESR/CRP) · ⤴️ Ferritin · Hypergammaglobulinemia (⤴️ lg) · ⤴️ PLT · Anemia

Developmental dysplasia of the hip
RF	Breech ⊕ FHx
S/S	Red flags ⊕ Ortolani test ⊕ Dislocated hip ⤵️ Limited hip abduction Supportive findings Limb length discrepancy Asymmetric gluteal/inguinal/thigh creases
Tx	If ⊕ Red flags → Refer to orthopedic surgery ⊕Supportive findings or RF — Age months: Hip US — Age >4 months: Hip x-ray

	Kawasaki disease
#	90% age <5 / East Asian
S/S	5 days Fever + ≥4 of the following Sx: • Conjunctivitis: bilateral, nonexudative • Mucositis: injected/fissured lips or pharynx, “strawberry tongue” • Cervical LN: 21 LN / .5 cm • Rash: erythematous, polymorphous, generalized; perineal erythema & desquamation; morbilliform (trunk, extremities) • Erythema & edema of hands/feet
Tx	ASPIRIN + IVIG
Comp	Coronary artery aneurysms Myocardial infarction & ischemia

Henoch-Schönlein Purpura
Path	lgA-mediated leukocytoclastic vasculitis
S/S	Palpable purpura Arthritis/arthralgia Abdominal pain, Intussusception Renal disease similar to lgA nephropathy
Dx	ⓝ PLT # & coagulation studies ⓝ to ⤴️ Cr Hematuria / RBC casts / proteinuria
Tx	Supportive (hydration & NSAlDs) for most pts Hospitalization & systemic GCS in patients with severe sx

Acute Rheumatic Fever
#	Peak incidence: age 5-15 Twice as common in 👩🏻
Clx	Major · Joints (migratory arthritis) · ♡ (Carditis) · Nodules (subcutaneous) · Erythema marginatum · Sydenham chorea Minor · Fever · Arthralgias · ⤴️ ESR/CRP · ECG: Prolonged PR interval
Late	Mitral regurgitation/stenosis
Tx	Penicillin for group A streptococcal (Streptococcus pyogenes) pharyngitis

Rheumatoid Fever

· Molecular mimicry between streptococcal M protein and self-proteins including cardiac proteins, keratin, laminin, and vimentin

· immune-mediated (type II) hypersensitivity

· Associated w/? Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infection

· Tx:

o Oral penicillin or erythromycin (if allergic) for 10 days

o Anti-inflammatory

· ❌ Arthritis (may interfere with migratory arthritis)

· ⊕ Carditis ❌ CHF –> ASA

· ⊕ Carditis ⊕ CHF –> Pridnisone (3 wks) –> ASA (6 wks)

o Only chorea? Phenobarbital

Congenital Heart Diseases

Posted on 30 July، 2019 Tagged Cardiology, PediatricsLeave a comment

Congenital Heart Diseases

	Features	Dxic features	Tx
ASD	o may be asx + only exercise intolerance o Enlarged right atrium + ventricle o ostium secundum defect (most common)	o Wide fixed S2 split o Systolic ejection murmur o Loud S1 o mid-diastolic rumble along the left sternal border	· palivizumab · patients must receive prophylaxis for infective endocarditis after dental procedures
VSD	· Down syndrome · DiGeorge syndrome · Turner syndrome · Left to right shunt → eventual eisenmenger syndrome · difficulty breathing or sweating during feeding	· high-pitched and harsh holosystolic murmur · decreased during Valsalva and amyl nitrate · increased during handgrip, squatting, and leg raise	· palivizumab · diuretics if HF
PDA	· maternal rubella infection · premature infants · in utero alcohol exposure · NRDS · Left to right shunt → eventual eisenmenger syndrome	· ↑ B-type natriuretic peptide is a biomarker for PDA · continuous “machine-like” or “to-and-fro” murmur · Wide Pulse pressure	· If they dont need the PDA → indomethacin · If they need it → PGE1
Endocardial cushion defect	o Down syn o ASD + VSD (contagious)	o Wide S2 split + Systolic ejection murmur o ECG: Tall P waves + ventricular hypertrophy + left axis deviation

ToF	· maternal exposure to retinoic acid · failure of neural crest cells to migrate · tet spells (hypercyanotic episodes)	· systolic thrill along the left sternal border · loud and harsh systolic ejection murmur on the upper sternal border · may or may not have a preceding click · single S2 · clubbing (in older children with uncorrected defect)	· PG E1 (if cyanotic at birth) · BB
ToGV	· maternal diabetes · maternal smoking · Due to failure of the aorticopulmonary septum to spiral	· early cyanosis that does not correct with squatting or knee-chest position · early and progressive cyanosis that does not correct with oxygen · egg-on-a-string appearance on chest radiography · Single S2	· PG E1 · balloon atrial septostomy · arterial switch surgical repair (commonly performed in the first month of life)

Cyanotic heart disease in newborns
Dx	PEx	X-ray
Transposition of the great vessels	• Single S2 • With or w/o VSD rnurmur	“Egg-on-a-string heart (narrow mediastinum)
ToF	• Harsh pulmonic stenosis • VSD murmur	(Boot-shaped- heart (right ventricular hypertrophy)
Tricuspid atresia	• Single S2 • VSD murmr	Minimal pulmonary blood flow
Truncus arteriosus	• Single S2 • Systolic ejection murmur (⤴️flow through truncal valve)	⤴️ pulrnonary blood now, edema
Total anomalous pulmonary venous return	• Severe cyanosis • Respiratory distress	Pulmonary edema, snowman sign (enlarged supracardiac viens and SVC)

	Vascular Ring
?	· Congenital anomaly of the aortic arch
S/S	· Sx of compression · Dysphagia & Food impaction
Dx	· Endoscopy: indentation at the site of the ring
Tx	Surgery

Viral myocarditis
👾	· Coxsackievirus B, adenovirus
Clx	· Viral prodrome (hx of infxn) · Heart failure: Respiratory distress, murmur, hepatomegaly
Dx	· Chest x-ray: Cardiomegaly, pulmonary edema · ECG: Sinus tachycardia · Echocardiogram: Decreased ejection fraction · Biopsy (gold standard): Inflammation, necrosis
Tx	· Supportive (eg, diuretics, inotropes) · Intravenous immunoglobulin **

Nephrology Disorders

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UTI in children 👶🏼
RF	· Female · Uncircumcised male · VI-JR, anatomic defects · Dysfunctional voiding · Constipation
Clx	· Dysuria · Fever · Suprapubic pain (cystitis) &/or flank/back pain (pyelonephritis)
Labs	· Pyuria · Bacteriuria on urine culture
Tx	· Antibiotic therapy (1-2 weeks w/ 3rd-gen cephalosporins) · If VCUG

VUR

Dx? Voiding cystourethrography
Tx:

Nonsurgical vs surgical
Primary –> may resolve on its own –> medical
Secondary –> can be anatomical / functional

Anatomical –> Surgery
Functional –> tx underlying cause

Posterior urethral valves

most common reason for a newborn boy not to urinate during the first day of life (meatal stenosis should also be looked for).
Catheterization can be done to empty the bladder (the valves will not present an obstacle to the catheter).
Voiding cystourethrogram is the diagnostic test,
Tx: and endoscopic fulguration or resection will get rid of them.

Obstructive uropathy

def? obstruction of urinary tract, by any cause, that leads to back flow and hydronephrosis
in peds, mcc is birth defects
Dx:

Palpable abdominal mass in newborn; most common cause is hydronephrosis
Obtain VCUG in all cases of congenital hydronephrosis and in any with ureteral dilatation to rule out posterior urethral valves

Causes

MCC –> uretropelvic obstruction
Important cause –> posterior urethral valve –> ⤴️ risk for ESRD

Decompress bladder + IV Abx / vesicostomy

Nephrotic syn

Steroid-sensitive MCDz is MC nephrotic syn in peds.
Dx: UA –> proteinuria

Minimal Change Dz:

Tx: prednisone for 4–6 w, then taper 2–3 months w/o bx

Restrict Na
If severe: IV albumin + diuretics

Bx? if HTN/hematuria/HF, or if steroid-resistant (u tx for 8 weeks, no response)
Complications

Infections –> check vaccinations! (pneumococcus, varicella, PPD)
MC infection –> spontaneous peritonitis (s.pneumonia)
Thromboembolism

Prognosis: most have episodes of relapses, but they ⤵️ w/ age.

Torsion

PEx? No cremastric reflex (torsion tears the relfex)
Dx: Doppler flow U/S (only to determine direction of torsion and to guide manual detorsion, if urologist decides this is warranted; also to confirm successful detorsion in a completely asx px)
Tx: emergent surgery

Epididymitis

After puberty – sexual active
Pain + scrotal swelling –> UA shows pyuria –> Tx w/ Abx

Neurologic disorders

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	Cerebral palsy
RF	· Prematurity · Low birth weight
Clx	· Delayed motor milestones · Abnormal tone, hyperreflexia · Comorbid seizures, intellectual disability
Dx	· MRI of the brain · ± Electroencephalography · ± Genetic/metabolic testing
Tx	· Physical, occupational, speech therapies · Nutritional support · Antispastic medications

Febrile SZ 👶🏼
S/S	· Bilateral Tonic-Clonic generalized · ⏰: <15 m + Return to baseline quickly · Do not Rx within 24 h
Dx	Age: 3m – 6ys No previous AFEBRlLE seizure No meningitis or encephalitis No acute metabolic cause
Tx	· Abortive therapy (≥5 minutes) → Rectal Diazepam · Reassurance + Discharge pt (do not admit) + No need for F/U · Hospitalize only for 24h if did not return to baseline
Prog	ⓝ development/intelligence -30% risk of recurrence <5% risk of epilepsy

Acute causes of hemiplegia in 👶🏼
Cause	?
SZ	· Hx of generalized limb jerking or LOC · Postictal confusion or Todd temporarily paralysis
Intracranial hemorrhage	· Hx of trauma &/or bleeding disorder · Signs of ⤴️ICP (vomiting, bradycardia) · + imaging
Ischemic stroke	· Hx of prothrombotic disorder (eg, antithrombin Ill deficiency) or cardiac disease (eg, patent · foramen ovale) · FND (eg, hemiplegia, aphasia, ataxia)
Hemiplegic migraine	· Onset in adolescence & often positive FHx · Hx of headache & visual aura · Sx self-resolve

Bacterial Meningitis in 👶🏼 (age >1 month)
Clx	· Fever · ⤴️ ICP (Headache, vomiting, AMS) · Meningeal irritation (nuchal rigidity)
Dx	· CBC + Blood cultures · LP for CSF analysis
Tx	· IV vancomycin & ceftriaxone OR cefotaxime · Dexamethasone for Haemophi/us influenzae type b meningitis
Comp	· Intellectual/behavioral disabilities · Hearing loss · Cerebral palsy · Epilepsy

Sturge-Weber Syndrome
Path	Mutation in *GNAQ* gene
S/S	· Port wine stain (trigeminal N /CN VI/V2) · Leptomeningeal capillary-venous malformation · SZ ± hemiparesis · Intellectual disability · Visual field defects · Glaucoma
Dx	MRI with contrast
Tx	· Laser therapy · Antiepileptic drugs · Intraocular pressure reduction

Tuberous Sclerosis
?	· Neurocutaneous autosomal dominant · hamartin and tuberin form a complex that down regulates mTOR signaling · when this pathway is 🆎 → hamartomas everywhere
S/S	· infantile spasms in infants and have hypsarrhythmias on EEG · SZ · Arrhythmia 2ndary to cardiac rhabdomyomas
Dx	Genetic testing
Tx	Corticotropin for infantile spasms

Hematologic Disorders

Posted on 30 July، 201910 September، 2019 Tagged PediatricsLeave a comment

You can refer to Hematology section (Read: thalassemia, Anemia, ALL, Sickle cell anemia).

The rest is basically similar to adults.

Neonatal polycythemia
Def	Hematocrit >65% in term infants
Nx	· ⤴️ erythropoiesis from intrauterine hypoxia: DM, HTN, smoking; IUGR · Erythrocyte transfusion: delayed cord clamping; twin-twin transfusion · hypothyroidism or hyperthyroidism; genetic trisomy (13, 18, 21)
Clx	· Asx (most common) · Reddish skin · ⤵️Glu – ⤴️Bilirubin · Respiratory distress, cyanosis, · Irritability, jitteriness · Abdominal distension
Tx	· IV Fluid · Glucose · Partial exchange transfusion

Iron deficiency anemia in young children
RF	· Prematurity · Lead exposure · Age < 1 – Delayed introduction of solids (ie, exclusive breastfeeding after 6 months) – Cow’s, soy, or goat’s milk · Age > 1 – >24 oz/day cow’s milk – ❤ servings/day iron-rich foods
Dx	· Screening hemoglobin at age 1 · Hemoglobin <11 g/dL, ⤵️ MCV, ⤴️RDW
Tx	· Empiric trial of iron supplementation

Avascular Necrosis
Causes	· SLE · Sickle cell anemia · Osteomyelitis Steroids
Clx	· Groin pain on weight bearing · Pain on hip abduction & internal rotation · NO erythema, swelling, point tenderness
Labs	· ⓝ WBCs / ESR & CRP
Imaging	· MRI

Pediatric Surgery

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1st 24 h

Tracheoesophageal Fistula and Esophageal Atresia
Features	Fistula + Atresia (many types)
S/S	· Pt is salivating /drooling · failure to pass NG tube
Dx	X-Ray –> coiling of NG tube · You have to check for VACTREL (before surgery) o Echo –> Heart o X-ray –> vertebra o US –> Kidney o Examine anus –> imperforate anus
Tx	Surgical correction

Imperforate anus
Features	can be part of VACTREL
S/S	no asshole
Dx	· dx on PEx –(then)–> Do X-ray (crosstable) “upside down so that air goes up” to check extent of dz. · You have to check for VACTREL (before surgery) o Echo –> Heart o X-ray –> vertebra o US –> Kidney
Tx	· If mild (close to the tract): surgery now! · If severe (far from tract) · Check for opening (fistula) –⊕–> Surgery before toilet training · No fistula –––––––> colostomy ––––––> ⤴️

Diaphragmatic hernia
S/S	· Bowel sounds in chest · always left · scaphoid abdomen · issue is hypoplastic lung!!!! not the hernia
Dx	1˚ Intubate 2˚ NGT 3˚ X-ray
Tx	· Delay repair 3-4 days to allow lung to mature · Intubate + ventilate + sedate + NG tube suction · Surgery

Biliary Emesis

(make a graph – soon)

Days to months

	Pyloric Stenosis
S/S	· non-billous vomiting · Olive shaped mass
Dx	1˚: CHEMISTRY 2˚ US
Tx	1˚ Correct electrolytes 2˚ Surgery

	NEC
S/S	Premature baby First fed –> doesn’t like it Abd distension Bloody BM ⤵️ PLT
Dx	X-Ray –> air in intestine wall
Tx	NPO + IV nutrition + IV Abx Surgery if · Medical management fails · Erythema of abdomen · Air in portal vein or peritoneum

	Meconium illius
S/S	CF Baby FTPM
Dx	x-ray: air fluid levels + Ground glass appearance
Tx	Gastrofringin enema (water-soluble enema) is both dxic & txic.

	Biliary atresia
S/S	No billiary tree Persistant DIRECT/CONJUGATED jaundice for 6-8 weeks
Dx	Phenobarbital → HIDA scan · give it for 1 week · then do HIDA
Tx	Surgery

Later in Infancy

	Intussessption
S/S	· Completely normal happy chobby baby · Sudden abd pain that’s relieved by knee-chest position · stays for 1 min then goes away · Currant jelly stool (late sign)
Dx	Air/barium enema is both dxic & txic.
Tx	Air/barium enema both dxic & txic. (if fails –> surgery)

Meckel’s –> LGIB in peds –> Technicium scan

Differentiating features of Hirschsprung disease and meconium ileus

	Hirschsprung disease	Meconium ileus
Associated disorder	Down syndrome	Cystic fibrosis
Typical level of obstruction	Rectosigmoid	Ileum
Meconium consistency	Normal	Inspissated
“Squirt sign”	Positive	Negative

Neonatal Jaundice

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Physiologic	Pathologic
Shows 2-3 d of life (term)	1st day of life!
Disappears by fifth day of life (term)—7th	Variable
Peaks at second to third day of life	Variable
Peak bilirubin <13 mg/dL (term)	Unlimited
Rate of bilirubin rise <5	Usually >5

Cause	Path	Type	CBC	Other labs	Tx
Excessive bruising/ cephalohematoma	RBCs → Hgb → Bilirubin	Indirect	Normal to slightly low Hgb/Hct Normal to slight increase in reticulocytes		Phototherapy
Immune hemolysis • Rh • ABO • Minor blood groups	Anti-Rh, anti-A, anti-B, anti-minor blood group Abs	Indirect	• Low Hgb/Hct (anemia) • Increased reticulocytes (Hemolysis CBC)	• Rh ⊖ mother and Rh ⊕ baby • Type O mother and type A or B baby • Direct Coombs positive • ⤵️ RBCs	Phototherapy + possible exchange transfusion
Polycythemia	High Hct, Hgb → high bilirubin	Indirect	High (Hct >65)/ normal	Increased RBCs	Phototherapy + partial exchange transfusion
Non-immune hemolysis	Abnormal RBC → splenic removal	Indirect	Low (anemia)	· If no membrane defect →, G6PD, PK activity · Characteristic RBCs if membrane defect · Decreased RBCs	Phototherapy + transfusion
Displacement of bound bilirubin from albumin	Free bilirubin in circulation	Indirect	ⓝ		Treat underlying problem
Familial nonhemolytic hyperbilirubinemia (Crigler-Najjar syndrome)	Absence of glucuronyl transferase (type I) vs. small amount of inducible GT (type II)	Indirect	ⓝ	GT activity	Phototherapy + exchange transfusion
Extrahepatic obstruction— biliary atresia	Bilirubin cannot leave the biliary system	Direct	ⓝ	Ultrasound, liver biopsy	Portojejunostomy, then later liver transplant
Cholestasis (TORCH, sepsis, metabolic, endocrine)	Abnormal hepatic function → decrease bilirubin excretion	Direct	ⓝ	Clx	Treat underlying problem
Bowel obstruction	⤴️ enterohepatic circulation	Indirect	ⓝ		Relieve obstruction + phototherapy
Breast feeding jaundice	Baby is not fed enough → dehydration + ⤴️ enterohepatic circulation	Indirect	ⓝ		· Phototherapy · hydration · teach breast feeding
Breast milk jaundice	b-glucuronidase in breast milk → ⤴️ enterohepatic circulation	Indirect	ⓝ		Phototherapy + continue breast feeding

Breastfeeding jaundice vs breast milk jaundice
Dx	Time	Path	Clx
Breastfeeding	1st week	· Insufficient intake of breast milk resulting in: ⤵️ bilirubin elimination ⤴️ enterohepatic circulation	· not enough breastfeeding · Signs of dehydration
Breast milk	3-5 days, peaks 2ed week	· High levels of ß-glucuronidase in breast milk deconjugate intestinal bilirubin & increase enterohepatic circulation	· Adequate breastfeeding · Normal examination

GI Disorders

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Omphalocele + Gastroschisis both need staged reduction (لا تتحمس)

Amniotic Fluid
	Oligohydroamnios	Polyhydroamnios
?	Baby can’t pee	Baby cant swallow
DDx	Weak abd muscles (tx w/ serial foley) Renal agenesis	Wardeng-hoffman Intestinal atresia

Congenital Umbilical Hernia
Path	Incomplete closure of abdominal muscles
Clx	· Soft, nontender bulge at umbilicus · Protrudes with increased abdominal pressure · Typically reducible · Non tender · Dx CLINICALLY (no need for dxic tests)
Tx	· Observe (spontaneous closure) · Elective surgery around age 5 · Do US if it’s ACQUIRED umbilical hernia.

	Coanal Atresia
	CHARGE syndrome is a set of congenital defects which are seen in conjunctions. C: coloboma of the eye, central nervous system anomalies H: heart defects A: atresia of the choanae R: retardation of growth and/or development G: genital and/or urinary defects (hypogonadism) E: ear anomalies and/or deafness
S/S	· Baby turns blue while feeding & pink while crying
Dx	Clx → CT
Tx	Surgery

	Hirshsprung dz
?	· Associated w/ Down · Failure of neurons to migrate · ø aurbach / myenteric
S/S	Can presents in 2 ways: · FTPM (on DRE → diarrhea) · Toddler w/ overflow incontinence
Dx	· 1˚ X-Ray · 2˚ Barium · 3˚ Manometry (⤴️ Pressure) · BEST: Bx
Tx	3-stage Surgery

	Doudenal Atresia
?	Associated w/ Down, Annular pancreas
S/S	First 12 hours: Billous Vomiting
Dx	X-ray: double-bouble
Tx	NGT Surgery

Biliary atresia
Path	· Idiopathic · Progressive obliteration of extrahepatic bile ducts
Clx	· Asymptomatic at birth · Age 1-8 weeks: Jaundice Acholic stools &/or dark urine Hepatomegaly
Dx	· Conjugated hyperbilirubinemia · Liver biopsy: bile duct plugs & proliferation, portal tract edema, fibrosis · Intraoperative cholangiogram (gold standard): biliary obstruction
Tx	· Hepatoportoenterostomy (Kasai procedure) · Liver transplant

	Intususseption
?	Associated with previously used Rotavirus vaccine and HSP.
S/S	colicky abdominal pain, bilious vomiting, and currant jelly stool. On PEx: right quadrant sausage-shaped mass
Dx	US Contrast enema “Target sign”
Tx	1˚: IVF + Electrolytes 2˚ NGT Barium Enema (both dx & Tx) · contraindicated if the child has signs of peritonitis, shock, or perforation.

Intussusception
RF	· Recent viral illness or rotavirus vaccination · Pathological lead point Congenital malformation of the intestines (eg, Meckel diverticulum) Henoch-Schönlein purpura Celiac disease
Clx	· Sudden, intermittent abdominal pain · “Currant jelly” stools · Sausage-shaped abdominal mass
Dx	· “Target sign” on ultrasound
Tx	· Air or saline enema · Surgery

VACTERL syndrome

· V: vertebral anomalies

· A: anal atresia

· C: cardiovascular anomalies

· T: tracheoesophageal fistula

· E: esophageal atresia

· R: renal anomalies

· L: limb anomalies

Diarrhea (Gastroenteritis)
?	Can be Infectious / non-infectious
S/S	Diarrhea → Dehydration
Dx	Look for an organism
Tx	Fluid Resuscitation Antidiarrheals such as loperamide are always the wrong answer.

Necrotizing enterocolitis (NEC)
RF	Prematurity (but not only to premature!) Very low birth weight (<1.5 kg [3.3 1b]) Enteral feeding (formula > breast milk) Pt w/ CHD -> ⤵️ BF to intestines
Clx	Feeding intolerance / Lethargy Unstable VS (⤵️ T°) Bilious emesis, bloody stools, abdominal distention
X-Ray	Pneumatosis intestinalis Portal venous gas Pneumoperitoneum
Tx	Bowel rest; parenteral nutrition Broad-spectrum IV Abx ± Surgery

	Wilms	Neuroblastoma
?	· Semi-hypertrophy of 1 kidney · (Wilms tumor, aniridia, GU malformations, and mental retardation is referred to as WAGR* syndrome. The a deletion on chromosome 11)* · metanephros	adrenal medulla tumor (neural crest)
S/S	Abdominal mass (does not cross midline) Anirdia (no iris) Constipation N/V	Abdominal mass Hypsarrythmia (dancing eyes) and opsoclonus (dancing feet) are hallmarks.
Dx	· 1˚: US · Best˚: Contrast CT	· ⤴️ URINE VMA and metanephrines · Bx: small round blue/purple cells · N-myc gene amplification · 131I-MIBG body scan to detect metastasis · MRI
Tx	Total nephrectomy + chemo + radiation	Surgical resection

Neuroblastoma
Path	· Neural crest origin · Involves adrenal medulla, sympathetic chain
Clx	· Median age <2 · Abdominal mass · Periorbital ecchymoses (orbital metastases) · Spinal cord compression from epidural invasion (“dumbbell tumor”) · Opsoclonus-myoclonus syndrome
Dx	· Elevated catecholamine metabolites · Small, round blue cells on histology · N-myc gene amplification

Meckel diverticulum
#	Rule of 2s: · 2% prevalence · Age 2 · 2:1 male/female ratio · Location within 2 feet of ileocecal valve
Clx	· May be asx, incidental finding · Painless lower gastrointestinal bleeding · ± Anemia
Comp	· Intussusception · Volvulus · Intestinal obstruction
Dx	· Technetium-99m pertechnetate scan

Evaluation of neonatal hydration
Signs	Decreased wet diapers Absence of tears Sunken fontanelle Dry mucous membranes Decreased skin turgor Delayed capillary refill
Tx	<7% · Continue exclusive breastfeeding · Follow-up at age 10-14 days to check that infant has regained birth weight ≥7% · Assess for oromotor dysfunction · Assess for lactation failure · Dally weights · Consider formula supplementation

Differential diagnosis of regurgitation & vomiting in infants
Dx	Clx	Tx
GERD	Physiologic · Asymptomatic · Happy spittter Pathologic · FTT · Significant irritability · Sandifer syndrome	· Reassurance · Positioning therapy · Thickened feeds · Antacid therapy · If severe, esophageal pH probe monitoring & upper endoscopy
Milk protein allergy	· Regurgitation/vomiting · Eczema · Bloody stools	· Elimination of dairy & soy protein from diet
Pyloric stenosis	· Projectile nonbilious vomiting · Olive-shaped abdominal mass · Dehydration, weight loss	· Abdominal U/S · Pyloromyotomy

HUS
Path	Shiga toxin (infection w/ E.coli or Shigella)
Clx	· Hx of bloody diarrhea · Fatigue, pallor · Bruising, petechiae · Oliguria, edema
Dx	· Hemolytic anemia (schistocytes, ⤴️bilirubin) · ⤵️PLT · Acute kidney injury (t BUN, T creatinine)
Tx	· Fluid & electrolyte management · Blood transfusions · If severe → Dialysis

PED constipation
RF	· Initiation of solid food & cows milk · Toilet training · School entry
Clx	· Painful/hard bowel movements · Stool withholding · Encopresis (feces in underwear >4ys)
Complications	· Anal fissures · Hemorrhoids · Enuresis/urinary tract infections
Tx	· ⤴️Dietary fiber & water intake · Limit cow’s milk intake to <24 oz · Laxatives · ± Suppositories, enema

Food protein—induced allergic proctocolitis
RF	Family history of allergies, eczema, or asthma
Clx	· Young infant · Painless, bloody stools · ± Spit-up
Tx	· Elimination of milk & soy from maternal diet in breastfed infants · Hydrolyzed formula in formula-fed infants
Prognosis	resolution by 1 year

Fast HY Review

Tag: Pediatrics

Immunodeficiencies

Endocrine Disorders

Rheumatology/MSK Disorders

Congenital Heart Diseases

Nephrology Disorders

VUR

Posterior urethral valves

Obstructive uropathy

Nephrotic syn

Minimal Change Dz:

Torsion

Epididymitis

Neurologic disorders

Hematologic Disorders

Pediatric Surgery

Days to months

Later in Infancy

Meckel’s –> LGIB in peds –> Technicium scan

Neonatal Jaundice

GI Disorders