Cystic Fibrosis
?	·       AR ·       ΔF508 mutation ·       a defect in the CFTR gene leads to impaired chloride and water transport
S/S	Respiratory ·       Obstructive lung disease → bronchiectasis ·       Recurrent pneumonia ·       Chronic rhinosinusitis Gastrointestinal Obstruction (10-20)% ·       Meconium ileus ·       Distal intestinal obstruction syndrome Pancreatic disease ·       Exocrine pancreatic insufficiency ·       CF-related diabetes (~25%) Biliary cirrhosis Reproductive Infertility (~95% men, ~20% women) Musculoskeletal Osteopenia fractures Kyphoscoliosis Digital clubbing ·       Resp Sx (Productive Cough/Rx pneumonia/SOB on exertion/bronchiectasis) ·       GI (chronic diarrhea/meconium ileus) ·       FTT ·       Salty taste ·       Clubbing   ·       Associated w/: ·       Nasal polyps ·       Infertility ·       pancreatic insufficiency
Dx	·       Clx Sx ·       Evidence of CFTR gene dysfunction ·       ⤴️ sweat chloride test (≥ 60 on 2 occasions) ·       Nasal potential difference 🆎 ·       genetic testing 🆎
Tx	·       Conservative ·       Chest physiotherapy ·       Fat-soluble Vitamins ·       Vaccinations (Influenza / pneumococcus) ·       Medical 💊 ·       Abx ·       Pancreatic enzyme replacement therapy

	RDS	Transient Tachypnea	Meconium Aspiration	Diaghragmatic hernia
Def	·       surfactant def ·       ⤵️ FRC → Atelactasis	Slow absorption of fetal lung fluid: ⤵️  compliance ⤵️  tidal volume ⤴️ dead space	Meconium aspiration → obstruction → resp failure + pHTN	hernia → GI in chest → pulmo hypoplasia
S/S	·       Hypoxemia ·       Hypercarbia ·       Resp Acidosis	Tachypnea after birth ·       RF: C-Sec / rapid 2˚ stage of labor	Resp sx	respiratory distress + scaphoid abdomen
Dx	1˚ CXR (ground glass appearance, atelactasis) Best: lecithin-to-sphingomyelin ratio	Gold-Standard: CXR (air-trapping, fluid in fissures, perihilar streaking)	Gold-Standard: CXR (increased AP diameter, flattening of diaphragm)	CXR: GI in chest US: to dx prenatally
Tx	1˚: Oxygen 2˚: Intubation + Surfactant	Self-resolution	·       ⊕ PEEP ·       PPx: endotracheal intubation and AW suction if thick meconium	·       1˚ Intubate ·       2˚ CXR ·       Surgical correction ·       if u dx prenatally: intubate immediately after delivery

Transient polycythemia of New born
?	Hypoxia during delivery → ⤴️ EPO
S/S	Polycythemia Splenomegaly is NORMAL
Dx	CBC: polycythemia
Tx	Self-resolution

Transient tachypnea of the newborn
Path	Retained fetal lung fluid
RF	·       CS ·       Prematurity ·       Maternal diabetes
Clx	·       Tachypnea, increased work of breathing ·       Clear breath sounds ·       Chest x-ray: Hyperinflation, fluid in fissures
Tx	·       Supportive (O2, nutrition) ·       Goes away in 1-3 days

	Causes of stridor in infants & toddlers
Acute	Croup ·       Inspiratory or biphasic stridor, “barky” cough, infectious symptoms Foreign ·       Inspiratory stridor &/or wheeze, ·       focally diminished breath sounds
Chronic	Laryngomalacia ·       “Floppy” supraglottis, prominent age 4-8 months ·       Inspiratory stridor worsens when feeding, crying, or supine; improves when prone  Laryngomalacia ·       Great vessels encircle & compress trachea ·       Biphasic stridor that improves with neck extension Vascular ring ·       Hemangiomas enlarge (1 st week) ·       Worsening biphasic stridor, concurrent skin hemangiomas (“beard distribution”)

Foreign body aspiration
Clx	·       Sudden-onset cough, dyspnea ·       Cyanosis ·       Hx of choking episode
PEx	·       Wheezing / Stridor ·       Focal area of diminished breath sounds
X-ray	·       Hyperinflation of affected side ·       Mediastinal shift toward unaffected side ·       Atelectasis if obstruction is complete ·       Foreign body
Tx	·       Rigid bronchoscopy

Laryngomalacia
Path	Supraglottic tissues collapse on inspiration
Clx	Inspiratory stridor that worsens when supine
Dx	Laryngoscopy → Omega Ω epiglottis
Tx	Reassurance and close f/u If Severe → Supraglottoplasty

Bronchiolitis
#	Age <2 years RSV
Clx	• Hx of nasal congestion/discharge & cough • Wheezing/crackles & respiratory distress (eg, tachypnea, retractions, nasal flaring)
Tx	• Supportive
PPx	Palivizumab for the following: ·       Preterm birth <29 weeks gestation ·       Chronic lung disease of prematurity ·       Hemodynamically significant congenital heart disease
Comp	Apnea (especially infants age <2 months) Respiratory failure NOT PNEUMONIA ❌

	Etiology	S/S	Dx	Tx
Bronchitis	Various bacteria and viruses causing inflammation of the airways	Productive cough lasting 7–10 days with fever	Clinical	Supportive
Pharyngitis	Inflammation of the pharynx and adjacent structures caused by GAS	Cervical LN, petechiae, fever above 39, and other URI symptoms; acute rheumatic fever and glomerulonephritis	·       Rapid DNAse antigen detection test ·       If ⊖ w/ high Clx suspesion → Cx	Oral penicillin for 10 days or macrolides for penicillin allergy
Diphtheria	Membranous inflammation of the pharynx due to bacterial invasion by Corynebacterium diphtheriae	Grey highly vascular pseudomembranous plaques on the pharyngeal wall. Do not scrape.	Culture of a small portion of superficial membrane	Antitoxin: remember, ❌ Abx do not work

Croup (laryngotracheitis)
Path	·       Parainfluenza viral infection of the larynx & trachea
Clx	·       Inspiratory Stridor ·       Barking cough ·       Hoarseness
Dx	·       Clx ·       If unclear -4 X-ray shows Steeple Sign
Tx	·       Mild (X stridor at rest): humidified air ± corticosteroids ·       Moderate/severe (stridor at rest): corticosteroids + Nebulized epinephrine
PPx	·       Handwashing ·       Decontamination of surfaces ·       Proper ventilation

Infectious Epiglottitis
Path	S.Pneumoniae, H.influenzae
Clx	Life-threatening a Fever, sore throat, drooling, muffled voice AW obstruction (stridor, dyspnea) Pooled oropharynx secretions Laryngotracheal tenderness
Dx	Direct visualization Imaging (lateral neck x-ray)
Tx	Early Intubation (if needed) IV antibiotics (ceftriaxone plus vancomycin)

Pertussis
Clx	·       Catarrhal (1-2 weeks): mild cough, rhinitis ·       Paroxysmal (2-6 weeks): cough with inspiratory “whoop,” posttussive emesis ·       Convalescent (weeks to months): symptoms resolve gradually
Dx	Pertussis culture or PCR* ⤴️ WBCs: Lymphocyte-predominant
Tx	Macrolides
PPx	Acellular pertussis vaccine

Dx	S/S	Tx
Erythema Toxicum Neonatrum	·       Asymptomatic ·        Scattered, erythematous papules & pustules	None
Neonatal HSV	·       Three types: ·       Vesicular clusters on skin, eyes & mucous ·       membranes ·       CNS infection ·       Fulminant, disseminated, multiorgan disease	Acyclovir
Staphylococcal scalded skin syndrome	·       Fever, irritability ·       Diffuse erythema —+ flaccid, flexural blistering ·       +ve Nikolsky sign	Oxacillin, nafcillin, or vancomycin

	Measles (rubeola)
MOT	·       Airborne
Clx	·       Prodrome – 4 Cs (Cough, Coryza, Conjunctivitis, Koplik spots) ·       Maculopapular exanthem     – Head -9 Body Spread     – Spares palms/soles
PPx	·       Live-attenuated measles vaccine
Tx	·       Supportive ·       Vitamin A for hospitalized pt

	Roseola infantum
👾	HHV-6 most common
#	Age <2 years
Clx	3-5 days of high fever followed by blanching maculopapular rash
Tx	Supportive

Perianal (Ass) skin rashes
	Contact dermatitis	Candida	Perianal Streptococcus
#	Most common cause in infants	Second most common cause in infants	School-aged children
PEx	Spares creases/skinfolds	Beefy-red rash involving skinfolds with satellite lesions	Bright, sharply demarcated erythema over perianal/perineal area
Tx	Topical barrier ointment or paste	Topical antifungal therapy	ORAL antibiotics

Infectious complications of Atopic Dermatitis
Dx	👾	Clx
Impetigo	Staphylococcus aureus Streptococcus pyogenes	Painful, non-pruritic pustules with honey-crusted adherent coating
Eczema herpeticum	Herpes simplex type I	Painful vesicular rash with “punched-out” erosions & hemorrhagic crusting
Molluscum contagiosum	Poxvirus	Flesh-colored papules with central umbilication
Tinea corporis	Trichophyton rubrum	Pruritic circular patch with central clearing & raised, scaly border

Nonbullous impetigo
👾	·       Staphylococcus aureus ·       Group A beta-hemolytic Streptococcus (S pyogenes)
Clx	·       Painful non-itchy pustules & honey-crusted lesions
Tx	·       Topical antibiotics (eg, mupirocin)
Complications	·       Poststreptococcal glomerulonephritis

Herpangina vs herpetic gingivostomatitis
	Herpangina	Herpetic gingivostomatitis
Pathogen	Coxsackie A virus	HSV 1
Age	1-7 years	6 months-5 years
Timing	اخر الصيف – اول الخريف	يأتي في اي وقت
Clx	• Fever • Pharyngitis • Gray vesicles/ulcers on oropharynx not  on lips	• Fever • Pharyngitis • Erythematous gingiva • Clusters of vesicles on oral mucosa/lips
Tx	Supportive	Oral acyclovir

Anaphlaxis	Urticaria	Angioedema
HYPOTENSION Rash Wheezing	No hypotension Only rash after exposure to allergen	No hypotension Swelling (can be anywhere, but be careful for swelling around AW)
Dx: clx Tx: Epi pen	Tx: H1 Blocker Steroids	Dx: Clx Tx: Secure AW

Anaphylaxis
?	·       Food (Nuts, shellfish) ·       Drugs (eg. ß-lactam antibiotics) ·       Insect stings
Clx	CVS ·       Vasodilation hypotension & tissue edema RESP ·       Upper AW edema -9 stridor & hoarseness ·       Bronchospasm wheezing SKIN ·       Urticarial rash, pruritus, flushing
Tx	·       IM epinephrine (Rz if no improvement) ·       AW management & volume resuscitation ·       Adjunctive therapy (Antihistamines, GCS)

Allergic rhinitis:	·       Sx: Shiner, pale boggy mucosa, cobblestoning ·       How to dx? Clx ·       Do I need to do any other tests (skin test)? No, except if the pt is refractory or you wanna desensetize ·       Tx: avoid triggers – Intranasal steroids.
Allergic conjunctivitis	Same as above. ⤴️ Same tx, H2>H1.
Food Allergies	·       Make sure there’s no anaphylaxis, if there’s –> make them have Epi pen ·       If they wanna know what type of food they are allergic to, just try all food u can get ·       Soy milk allergy is a lil bit frightening (it can present w/ bloody diarrhea or FTT) –> just change the formula

Allergic Rhinitis
Sx	·       Rhinorrhea, congestion, sneezing, itching ·       Cough 2° to postnasal drip ·       Ocular itching & tearing
PEx	·       “Allergic shiners” (infraorbital edema & darkening) ·       “Allergic salute” (transverse nasal crease) ·       Pale, bluish, enlarged turbinates ·       Pharyngeal cobblestoning ·       “Allergic facies” (high-arched palate, open-mouth breathing)
Tx	·       Allergen avoidance ·       Intranasal corticosteroids

👾	S/S	Dx	Tx
Varicella	·       Multiple Vesicles ·       Very itchy ·       Face → Body	1˚ Tzanck smear showing multinucleated giant cells; most accurate test is viral culture	Supportive
Rubeola or measles	·       The 3 C’s: cough, coryza, and conjunctivitis with a Koplik spot (grayish macule on buccal surface) ·       High grade fever >39	Clx most accurate is measles IgM antibodies	Supportive Vit A
Rubella	Very similar to measles BUT: ·       pre-auricular LN ·       Low fever ·       +/- arthralgia	–	Supportive
Parvovirus B19	URI Slapped cheek Hx of contact w/ sick pts	Clx	Supportive
Roseola	Fever and URI progressing to diffuse blanchable rash	Clx	Supportive
Mumps	Fever precedes classic parotid gland swelling with possible orchitis.	Clx	Supportive

Age (months)	Gross Motor	Fine Motor	Language	Social/cognitive
2	• Lifts head/chest in prone position	• Hands unfisted 50% of the time • Tracks past midline	• Alerts to voice/sound • Coos	• Social smile • Recognizes parents
4	• Sits with trunk support Begins rolling	• Hands mostly open • Reaches midline	·       Laughs ·       Turns to voice	·       Enjoys looking around
6	• Sits momentarily propped on hands (unsupported by 7 months)	• Transfers objects hand to hand • Raking grasp	• Responds to name • Babbles	• Stranger anxiety
9	• Pulls to stand • Cruises	• 3-finger pincer grasp • Holds bottle or cup	• Says “dada,” “mama”	• Waves “bye” • Plays “pat-a- cake”
12	• Stands well • Walks first steps independently • Throws ball	• 2-finger pincer grasp	·       Says first words other than “dada,” “mama”	·       Separation anxiety ·       Comes when called

Age	Gross Motor	Fine Motor	Language	Social/cognitive
10 months	• Stands well • Walks first steps independently • Throws a ball	• 2-finger pincer grasp	• Says first words (other than “mama” & “dada”)	Separation anxiety • Follows I-step commands with gestures
18 months	• Runs • Kicks a ball	• Builds a tower of 2-4 cubes • Removes clothing	• 10- to 25-word vocabulary • Identifies ≥ 1 body parts	• Understands “mine” • Begins pretend play
2 years	• Walks up/down stairs with both feet on each step • Jumps	·       Builds a tower of 6 cubes ·       Copies a line	·       Vocabulary 250 words ·       2-word phrases	• Follows 2-step commands • Parallel play Begins toilet training
3 years	• Walks up/down stairs with alternating feet • Rides tricycle	·       Copies a circle ·       Uses utensils	·       3-word sentences ·       Speech 75% intelligible	• Knows age/gender • Imaginative play
4 years	• Balances & hops on 1 foot	·       Copies a cross	• Identifies colors • Speech 100% intelligible	• Cooperative play
5 years	• Skips • Catches ball with 2 hands	·       Copies a square ·       Ties shoelaces ·       Dresses/bathes independently ·       Prints letters	·       Counts to 10 ·       5-word sentences	• Has friends • Completes toilet training

Age	Gross Motor	Fine Motor	Language	Social/cognitive
3 mo	Roll	—	Laugh	Smile
6 mo	Sit	Switches	Shmooze	Stranger
9 mo	Pull	Pincer	Papa	Play
12 mo	Two-legs	Track	Two-words	Two-of-us

Sexual behavior in Preadolescents (<12 ys)
ⓝ	🆎
Toddler • Exploring others’ genitals • Masturbatory movements • Undressing self or others	·       Insertion of objects into vagina or anus ·       Sex play involving genital-genital, oral- genital, or anal-genital contact ·       Use of force, threats, or bribes in sex play ·       Age-inappropriate sexual knowledge
School-age interest in sex words & play Asking questions about sex • Masturbatory movements (may become more sophisticated)

	Neonatal Sepsis
RF	·       Prematurity ·       Chorioamnionitis ·       Intrapartum fever ·       Prolonged ROM
👾	GBS (MCC) E. coli, Listeria
S/S	VERY NONSPECIFIC
Dx	Sepsis Work-up
Tx	·       ⊖ Meningitis: ampicillin + gentamicin ·       ⊕ Meningitis: ampicillin and third-generation cephalosporin (not ceftriaxone)

TORCHES

TORCH infections

Many of the findings of the TORCH infections are very similar, so know the most likely presentations: ·       Toxoplasmosis: hydrocephalus with generalized calcifications and chorioretinitis ·       Rubella: the classic findings of cataracts, deafness, and heart defects ·       CMV: microcephaly with periventricular calcifications; petechiae with thrombocytopenia ·       Herpes: skin vesicles, keratoconjunctivitis, acute meningoencephalitis ·       Syphilis: osteochondritis and periostitis; skin rash involving palms and soles and is desquamating; snuffles (mucopurulent rhinitis)

TORCHES
All	IUGR / HSM / Jaundice / Blueberry muffin spots
CMV	Periventricular calcifications
Toxo	Diffuse intracerebral calcifications Severe chorioretinitis
Syphilis	Rhinorrhea Abnormal long-bone radiographs Desquamating or bullous rash
Rubella	Cataracts Heart defects (PDA)

Bug	Mom Hx	Transmission	Sx	US/Dx	Tx
Varicella	Vesicular rash	Vertical	·       Limb abnormality (club foot, hypoplasia) ·       Hydrops fetalis	ø	ø
CMV	·       CMV Infxn hx ·       Immunodefeciency ·       Transmission: saliva	Vertical	·       Chorioretinitis ·       HSM ·       IUGR Long Term ⏰: ·       SZ ·       SN Hearing loss ·       Developmental delay ·       Microcephaly	·       Ventriculomegaly ·       Periverntricular calcification ·       Intrahepatic calcification	Ganciclovir
Toxo	Rash Cat, Meat ingestion	Vertical	·       Chorioretinitis ·       SZ ·       SN Hearing loss ·       HSM – Ascites ·       IUGR ·       Hydrocephalus	·       Ventriculomegaly ·       Diffue calcification	Spiramycin
HSV	Painful Genital Vesicular rash	Vertical / or in delivery	·       Skin-eye-mouth (vesicles, keratoconjunctivitis) ·       CNS (SZ, Fever, Temporal lobe hemorrhage) ·       Disseminated (Sepsis, hepatitis, PNA)	·       Temporal lobe, ·       Placental & Umbilical cord calcifications	Acyclovir
Syphillis			·       Early (birth–2 yrs): ·       snuffles, ·       maculopapular rash (including palms of soles, desquamates), ·       jaundice, ·       periostitis, ·       osteochondritis, ·       chorioretinitis, ·       congenital nephrosis ·       Late (>2 years of age): ·       Hutchinson teeth, ·       Clutton joints, ·       saber shins, (malformation of tibia) ·       saddle nose, ·       osteochondritis, ·       rhagades (thickening and fissures of corners of mouth)	·       Treponema in scrapings (most accurate test) from any lesion or fluid, serologic tests ·       Most helpful specific test is IgM-FTA-ABS (not always ⊕)	Penicillin
Rubella	·       Unkown hx of vaccination ·       1st-trimester infxn	Vertical	·       Blueberry muffin spots (extramedullary hematopoiesis), ·       Cardio: PDA, peripheral pulmonary artery stenosis ·       Cataracts ·       SNHL ·       ⤵️  PLT ·       HSM ·       microcephaly Long Term ⏰: ·       growth retardation (mental + motor + physical)	HSM	ø
Parvovirus B19	·       Rash +/- arthralgia ·       Hx of contact w/ sick pt	Vertical	·       Hydrops fetalis ·       Fetal Anemia ·       Ascites + Pleural effusion	–	–
Chlamydia	STD	Delivery	Conjunctivitis Pnemonia (5-14 days)	–	Oral Macrolide
Gonococcal	STD	Delivery	Conjunctivitis (2-5 days)	–	IM cefrtiaxone
Zeka	Travel to endemic country	Vertical	·       Neurological Sx (Spasticity / SZ) ·       Ocular 🆎 ·       Microcephaly	·       Intracranial calcifications ·       Cortical atrophy

	Sx	Dx	Tx
Toxo	Chorioretinitis, hydrocephalus, and multiple ring-enhancing lesions on CT caused by Toxoplasma gondii	Best initial test is elevated IgM to toxoplasma; most accurate test is PCR for toxoplasmosis.	Pyrimethamine and sulfadiazine
Syphilis	Rash on the palms and soles, snuffles, frontal bossing, Hutchinson eighth nerve palsy, and saddle nose	Best initial test is VDRL or RPR; most accurate test is FTA ABS or dark field microscopy.	Penicillin
Rubella	PDA, cataracts, deafness, hepatosplenomegaly, thrombocytopenia, blueberry muffin rash, and hyperbilirubinemia	Maternal IgM status along with clinical diagnosis. Each disease manifestation must be individually addressed.	Supportive
CMV	Periventricular calcifications with microencephaly, chorioretinitis, hearing loss, and petechiae	Best initial test is urine or saliva viral titers; most accurate test is urine or saliva PCR for viral DNA.	Ganciclovir with signs of end organ damage
Herpes	Week 1: shock and DIC Week 2: vesicular skin lesions Week 3: encephalitis	Best initial test is Tzanck smear; most accurate test is PCR.	Acyclovir and supportive care

Rubella (German measles)
Clx	Congenital: ·       SN hearing loss ·       Cataracts ·       PDA Children: ·       Fever ·       Cephalocaudal spread of maculopapular rash ·       Suboccipita / Posterior auricular LN Adolescents/AduIts: ·       Same as children + arthralgias/arthritis
Dx	Serology
PPx	Live attenuated vaccine

Neonatal herpes simplex virus infection
Px	·       Vertical transmission o Intrauterine, perinatal, postnatal
Clx	·       Skin-eye-mouth o Mucocutaneous vesicles o Keratoconjunctivitis ·       Central nervous system o Seizures, fever, lethargy o Temporal lobe hemorrhage/edema ·       Disseminated o Sepsis, hepatitis, pneumonia
Dx	·       Viral surface cultures ·       HSV PCR (blood, cerebrospinal fluid)
Tx	·       Acyclovir

Congenital cytomegalovirus
U/S	·       Periventricular calcifications ·       Ventriculomegaly ·       Microcephaly ·       Intrahepatic calcifications ·       Fetal growth restriction ·       Hydrops fetalis
Neonatal features	·       Petechiae ·       Hepatosplenomegaly ·       Chorioretinitis ·       Microcephaly
Long-term Sequelae	·       Sensorineural hearing loss ·       Seizures ·       Developmental delay

Congenital Zika syndrome
Px	·       Single-stranded RNA Flavivirus ·       Transplacental transmission to fetus ·       Targets neural progenitor cells
Clx	·       Microcephaly, craniofacial disproportion ·       Neurologic abnormalities (eg, spasticity, seizures) ·       Ocular abnormalities
Dx	·       Neuroimaging: Calcifications, ventriculomegaly, cortical thinning ·       Zika RNA detection

	⏰	Fx	Tx
Chemical	> 24 h	·       Mild conjunctival irritation & tearing after silver nitrate ophthalmic ppx	Eye lubricant
Gonococcal	2-5 days	·       Marked eyelid swelling ·       Profuse purulent discharge ·       Corneal edema/ulceration	Single 1M dose of 3rd- generation cephalosporin
Chlamydial	5-14 days	·       Mild eyelid swelling ·       Watery, serosanguineous, or mucopurulent eye discharge	ORAL macrolide

Neonatal Tetanus
Clx	Difficult feeding, trismus (Spasm of jaw muscles) Spasms & hypertonicity: Clenched hands, dorsiflexed feet, opisthotonus
Tx	Supportive care Ab & tetanus immune globulin
PPx	Immunization Hygienic delivery & cord care

Infant botulism
Path	Ingestion of spores (dust/soi/, honey) Spores colonize Gl tract & produce toxin Toxin inhibits presynaptic acetylcholine release
Clx	< 12 months Constipation, poor feeding, hypotonia Oculobulbar palsies (Absent gag reflex, ptosis) Symmetric, descending paralysis ⤵️ Autonomic dysfunction (Decreased salivation, fluctuating HR/BP)
Dx	Clx Confirmation by stool C botulinum spores or toxins
Tx	Botulism immune globulin

	Phenylketonuria (PKU)	Classic Galactosemia
Path	Phenylalanine hydroxylase; accumulation of PHE in body fluids and CNS	Gal-1-P uridylyltransferase deficiency; accumulation of gal-1-P with injury to kidney, brain, and liver Galactose kinase: only cataracts
S/S	·       Mental retardation, ·       vomiting, ·       growth retardation, ·       purposeless movements, athetosis, ·       SZ	·       Jaundice (often direct), ·       hepatomegaly, ·       vomiting, hypoglycemia, ·       cataracts, SZ, ·       poor feeding, poor weight gain, ·       mental retardation
Assoc	Fair hair, fair skin, blue eyes, tooth abnormalities, microcephaly	Predisposition to E. coli sepsis; developmental delay, speech disorders, learning disabilities
Nx	Normal at birth; gradual MR over first few months	May begin prenatally— transplacental galactose from mother
Tx	Low PHE diet for life	·       No lactose—reverses growth failure, kidney and liver abnormalities and cataracts, ·       but not neurodevelopmental problems

PKU
Path	·       Autosomal recessive mutation in phenylalanine hydroxylase ·       Failure to convert phenylalanine into tyrosine results in hyperphenylalaninemia & neurologic injury
S/S	·        Severe intellectual disability ·        Seizures ·       Musty body odor ·       Hypopigmentation involving skin, hair, eyes & brain nuclei
Dx	·       Newborn screening (tandem mass spectrometry) ·       Quantitative amino acid analysis (⤴️ phenylalanine levels)
Tx	Dietary restriction of phenylalanine

	Features
Rett	·       Regression of language ·       Wide-based gait ·       Repetitive hand rubbing ·       Loss of purposeful hand movements (can’t feed herself) ·       Mainly in girls ·       Can show Autism / SZ
Angelman	·       Delayed development ·       Happy face ·       Jerky hand & Gait ·       Maternal copy deletion (chromosome 15)
Prader-willi	·       Hyperphagic ·       Obese ·       Hypogonadism ·       Paternal copy
Lesh-nyhan	·       Delayed development ·       Self-mutilation ·       Gout ·       Renal Stones
Bieck-wedth	·       Ophalocele ·       Large tongue ·       Semi-hypertrophy

Dz	?	Tx
PKU	can lead to mental retardation	special diet low in phenyalanine for at least the first 16 years of the patient’s life.
CF	1˚: Sweat chloride. Most accurate test: Genetic analysis of the CFTR gene.	·       Chest physiotherapy ·       Vit supplementation ·       Abx
CAH	·       Classic (MCS & GCS) ·       Non-classic	Replace mineralocorticoids and glucocorticoid possible genital reconstructive surgery.
Galactosemia	Cataracts Lethargy	❌ all lactose-containing products
Homocystineuria	Rx stones
Hypothyroidism	SX AT BIRTH	Replace thyroid
G6PD	hemolytic crises	Avoid triggers.
Hearing test	SNHL	Tx U/C

	Prader-Willi syndrome
Clx	·       Hypotonia ·       Weak suck./feeding problems in infancy ·       Hyperphagia/obesity ·       Short stature ·       Hypogonadism ·       Intellectual disability ·       Dysmorphic facies ·       Narrow forehead ·       Almond-shaped eyes ·       Downturned mouth
Dx	Deletions on paternal 15q11-q13
Comp	Sleep apnea (70%) T2DM

	Osteogenesis Imperfecta
Path	·       >90% AD   ·       Type 1 collagen gene (COL 1A1) defect
Clx	·       Mild to moderate o Frequent Fx o Blue sclera o Conductive hearing loss o Short to normal stature o Dentinogenesis imperfecta o Joint hypermobility ·       Lethal (type Il) o In utero and/or neonatal fx o pulmonary failure

	Type Il osteogenesis imperfecta
#	·       AD ·       Type 1 collagen defect
U/S	·       Multiple fractures ·       Short femur ·       Hypoplastic thoracic cavity ·       Il-JGR ·       Intrauterine demise
?	·        Lethal

	Niemann-Pick disease	Tay-Sachs disease
Path	Sphingomyelinase	ß-hexosaminidase A deficiency
#	Autosomal recessive / Ashkenazi Jewish heritage
⏰	Age 2-6 months
Clx	·       Loss of motor milestones ·       Hypotonia ·       Feeding difficulties ·       “Cherry-red” macula ·       Hepatosplenomegaly ·       Areflexia	·       Loss of motor milestones ·       Hypotonia ·       Feeding difficulties ·       “Cherry-red” macula ·       Hyperreflexia

Substance abuse

Opiates	Cocaine
High incidence low birth weight, most with IUGR	No classic withdrawal symptoms
⤴️ rate of stillborns	Preterm labor, abruption, asphyxia
No increase in congenital abnormalities	Intrauterine growth restriction
Early withdrawal symptoms, within 48 hours	Impaired auditory processing, developmental delay, learning disabilities
Tremors and hyperirritability	High degree of polysubstance abuse
Diarrhea, apnea, poor feeding, high-pitched cry, weak suck, weight loss, tachypnea, hyperacusis, seizures, others	Central nervous system ischemic and hemorrhagic lesions
Increased risk of sudden infant death syndrome	Vasoconstriction → other malformations

Fetal alcohol syndrome

·       Presence of all 3 facial abnormalities    o Smooth philtrum    o Thin vermillion border    o Small palpebral fissure ·       Growth retardation ·       Central nervous system abnormalities    o Cognitive impairment    o ADHD    o Seizures

Reye Syndrome
?	👶🏼 Aspirin use
Clx	Acute liver failure
Labs	⤴️ AST, ALT ⤴️ PT, PTT, INR ⤴️ NH3
Tx	Supportive

	?	Tx
Skull fx	·       In utero from pressure against bones or forceps; ·       linear: most common	• Linear: no symptoms and no treatment needed • Depressed: elevate to prevent cortical injury
Brachial palsy	·       Erb-Duchenne: C5–C6; cannot abduct shoulder; externally rotate and supinate forearm; ·       Klumpke: C7–C8 ± T1; paralyzed hand ± Horner syndrome	·       Most reach full recovery (w/i months); ·       Tx: proper positioning and partial immobilization; massage and ROM exercises; ·       if no recovery in 3–6 mo, then neuroplasty
Clavicular fx	·       Especially with shoulder dystocia in vertex position ·       arm extension in breech	·       Palpable callus w/i a week; ·       Tx: with immobilization of arm and shoulder , goes on its own
Facial n. palsy	·       Entire side of face with forehead; ·       forceps delivery or in utero pressure over facial nerve	·       Improvement over weeks (as long as fibers were not torn); need eye care; ·       neuroplasty if no improvement (torn fibers)
Caput succedaneum	·       Diffuse edematous swelling of soft tissues of scalp; crosses suture lines (caput succeeds in crossing)	·       Disappears in first few days; may lead to molding for weeks
Cephalohematoma	·       Subperiosteal hemorrhage: doesn’t cross suture lines ·       PEx: FIRM, NO SKIN DISCOLORATION	May have underlying linear fracture; resolve in 2 wk to 3 mo; may calcify; jaundice
Subdural hematoma	·       SZ ·       Periods of Apnea ·       altered muscle tone ·       NO SCALP SWELLING ·       Fontanelles bulging	·       Tx as subdural hematoma
Subglial Hematoma	d/t shearing emissary veins in delivery, fluctuant scalp swelling cross midline expands for few days post-delivery

Neonatal displaced clavicular fx
RF	·       Fetal macrosomia (for any reason) ·       Instrumental delivery ·       Shoulder dystocia
Clx	·       Crying/pain with passive motion of affected extremity ·       Crepitus over clavicle ·       Asymmetric Moro reflex (é on affected side)
Dx	·        X-ray
Tx	·       Reassurance + Gentle handling  ·       Analgesics  ·       Place affected arm in a long-sleeved garment & pin sleeve to chest with elbow flexed at 90 degrees

Disease	Age	S/S	Dx	Tx
Congenital hip dysplasia	Infants	Usually found on newborn exam screening	Ortolani and Barlow maneuver “Click” or “clunk” in the hip → US	Pavlik harness
Legg-Calvé-Perthes disease (AVN femoral head)	Ages 2–8	PAINFULL/LESS limp Referred knee pain may show trendulberg sign	X-rays show joint effusions and widening	Rest and NSAIDs surgery on both hips: If one necroses, eventually so will the other
Slipped capital femoral epiphysis	Adolescence, especially in OBESE patients	Painful limp Externally rotated leg	X-ray shows widening of joint space	Internal fixation with pinning

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

	Metatarsus adductus	Congenital clubfoot
Clx	·       Flexible positioning ·       Medial deviation of forefoot ·       Neutral position of hindfoot	·       Rigid positioning ·       Medial/upward deviation of forefoot & hindfoot ·       Hyper-plantar flexion of foot
Tx	Reassurance	Serial manipulation & casting; surgery for refractory cases

Routine newborn resuscitation
Conditions	·       Term gestation AND ·       baby is crying or brearhing AND ·       baby has appropriate tone
Steps	1.     Dry 2.     Stimulate 3.     Make sure AW is clear (By oropharynx Suction) 4.     Warm the body (put the baby on the mom – skin-to-skin)

Routine Newborn Care
PPx	·       IM Vit K ·       Erythromycin eye ointment ·       Hep B vaccine
Screening	·       Newborn screen (metabolic/genetic disorders — PKU / Cretinism) ·       Hyperbilirubinemia ·       Hearing screen ·       Pre- & post-ductal pulse oximetry (CHD) ·       Hypoglycemia (selected pts)

Retinal Examination

·       Perform a retinal examination in every newborn ·       Determine that the red reflexes are clear, of equal intensity, and symmetric and therefore must be done individually and simultaneously. ·       A cataract is any opacity of the lens. When a congenital cataract is present, suspect congenital rubella syndrome or galactosemia.

Gestational Age and Size at Birth
Preterm	Large for Gestational Age (LGA) Macrosomia	Post-term
• Premature—liveborn infants delivered prior to 37 weeks as measured from the first day of the last menstrual period • Low birth weight— birthweight <2,500 grams. This may be due to prematurity, IUGR, or both	• Birth weight >4,500 grams at term • Predisposing factors: obesity, diabetes • Higher incidence of birth injuries and congenital anomalies	• Infants born after 42 weeks’ gestation from last menstrual period • When delivery is delayed ≥3 weeks past term, significant increase in mortality. • Characteristics − Increased birth weight − Absence of lanugo − Decreased/absent vernix البودرة اللي على الجلد − Desquamating, pale, loose skin − Abundant hair, long nails − If placental insufficiency, may be meconium staining