Pediatrics ss Flashcards
When to suggest a chromosomal abnormality:
◦Facial dysmorphia
◦Intellectual deficiency
◦Delayed motor development
◦Malformation of several organs (CNS, face, fingers, heart)
◦In utero growth retardation
Autosomal aneuploidy can cause
Downs syndrome
Patau syndrome
Edwards syndrome
sex chromosome aneuploidy can cause
Turner syndrome
Kleinfelder syndrome
structural aberrations can cause
Cri-du-chat syndrome
Angelman syndrome
Prader-Willi syndrome
DiGeorge syndrome
Williams syndrome
cause of Down syndrome
Trisomy 21 - 47 chromosome instead of normal 46
cause of Patau-syndrome
Trisomy 13 - 47 chromosome instead of normal 46
Cause of Edwards syndrome
Trisomy 18 - 47 chromosome instead of normal 46
Cause of Turner syndrome
Absent X chromosome - 45 chromosomes instead of normal 46
Only viable monosomy
Cause of Klinefelter syndrome
Male with extra X chromosome - 47 chromosome instead of normal 46
Cause of Cri-du-chat syndrome
Terminal deletion of chromosome 5
Cause of Angelman syndrome
Deletion + imprinting of chromosome 15 (UBE3A)
Mothers’ gene is silenced
Cause of Prader-Willi syndrome
Deletion + imprinting of chromosome 15 (SNRPN)
Mothers’ gene is silenced
Cause of Di George syndrome?
Interstitial deletion on chromosome 22
Cause of Williams syndrome?
Interstitial deletion on chromosome 7
Cause of respiratory distress syndrome in neonates?
Surfactant deficiency - alveolar collapse - loss of lung compliance - increased WOB - hypoxia - IP shunting
Acute neonatal respiratory diseases?
Transient tachypnea of the newborn (TTN)
Congenital pneumonia
Meconium aspiration syndrome (MAS)
Milk aspiration
Define newborn
< 1 month
Define infant
< 1 year
Define toddler
< 3 years
Define child
> 3 years
Perinatal period
week 22 of gestation to 7th day after birth
Define term birth
week 37-42
Define early term infant
week 37-38
Define full term infant
week 39-40
Define late term infant
week 41-42
Define preterm infant
live birth between seek 20-36
Define postterm birth
live birth after week 42 of gestation
tree classifications of birth weight?
Appropriate for gestational age
Small for gestational age
Large for gestational age
Define late uterin death
after week 24
Define early neonatal deaths
within the first week after delivery
most common cause of early neonatal death in developing countries
infections
Neonatal mortality rate
3/1000 live births before day 28
leading causes of death before the age of 1 year
- congenital abnormalities
- preterm birth and LBW
- sudden infant death syndrome
limit between defining stillbirth or abortion?
week 20
Apgar score timing?
1 and 5 minutes after birth
when to start resuscitation at birth?
if onset of respiration has not stared within 20-60 min
normal weight of newborn?
2.7-4 kg
what is the physiological weight loss the first 10 days of life?
max 10%
normal weight gain for an newborn?
150-250g/week
weight gain at 6 months and 1 year?
double bw at 6 months
triple bw at 1 year
normal length of newborn
47-53cm
normal increase in length of newborn
2cm/month
50% increase at 12 months
Normal head circumference of newborn
33-35cm
Normal chest circumference of newborn
30-33cm
newborn HR and RF
Respiratory rate: 40–60 breaths per minute
Heart rate: 120–160 beats per minute
fontanelle closure
posterior 2-3 months
anterior 1.5-2 years
first urine and meconium passage
urine within 24h
meconium within 48h
APGAR stands for?
really: the doctor that came up with it but also
Appearance
Pulse
Grimace
Activity
Respiration
APGAR scoring numbers
7-10 reassuring
4-6 moderately abnormal
0-3 low
Regular medical check-ups (0-3 days (neonatology department)
◦Apgar score
◦Major/minor deformities
◦PKU testing & other metabolic diseases: Guthrie test
◦Audiology screening: BERA test (for congenital deafness)
◦Ophthalmology screening: red reflex test
◦Physical hip check: Barlow & Ortolani test
◦Cardiology screening: 4 limb pulse oximetry
Regular medical check-ups ( <10 days (1st visit at home)
◦Feeding
◦Increased weight
◦Jaundice (—> can cause somnolence —> trouble eating and drinking/thriving)
Regular checkup times?
1 , 2 , 3 , 4 , 6 , 9 , 12 ,15 , 18 months, >2 year annually
Normal percentage of newborns?
3-97%
Milestones at 2 months
Raises head and chest
Recognizes mothers voice
Social smile
Milestones at 4 months
Shakes rattle
Holds head
Rolls from front to back
Laughs
Milestones at 6 months
Sits without support
Transferes objects from hand to hand
Stranger anxiety
Babbles
Milestones at 9 months
Starts crawling
Separation anxiety
Babbles (baba, mama)
Pincer grasp
Milestones at 12 months
Starts to walk
Points at objects
Knows 1-2 words
Follows simple commands
ratio of head height and body length
Newborn 1:4
Infant 1:6
Adult 1:7
whats bad about formula feeding
No AB
Based on cow milk (allergy)
to much Casein
hen to introduce solid foods
4-6 months
stomach capacity of newborn
◦1 day: 5-7 ml (bead)
◦3 days: 22-27 ml (nut)
◦1 week: 45-60 ml (seed in an apricot)
◦1 month: 80-150 ml (egg)
amount of feeding
Newborn: every 3 hours, 8 times daily
‣ 1-3 months: approx. 150 ml/kg
‣ 3-6 months: approx. 120 ml/kg
Above 6 months: 5-6 times daily
‣ 200-250 ml/feeding
feeding of a premature?
Not yet developed sucking, breathing and swallowing for feeding so IV or feeding tube is used
mandatory vaccinations
‣ 0-4 weeks: BCG (tuberculosis)
‣ 2 months: Pentaxim (DTPa + IPV + Hib) + Prevenar13 (pneumo)
‣ 3 months: Pentaxim (DTPa + IPV + Hib)
‣ 12 months: Prevenar 13 (pneumococcus)
‣ 13 months: Varivax (varicella)
‣ 15 months: MMR (measles, mumps, rubella)
‣ 16 months: Varivax (varicella)
‣ 18 months: Pentaxim (DTPa + IPV + Hib)
‣ 6 years: Tetraxim (DTPa + IPV)
‣ + school vaccinations
vitamin supplementation in newborns
Vitamin K orally 2 mg 1/week
Vitamin D from 2w 1 drop/day
pathophysiology of respiratory distress in infants?
a) Surfactant deficiency
b) alveolar collapse
c)increased WOB
d) hypoxia
Etiology of respiratory distress in infants?
C-section
Hypothermia
Perinatal hypoxia
Meconium aspiration
Congenital pneumonia
Maternal diabetes
Past family history
Physiological Spo2 for neonates
Physiologic O2 saturation in neonates is around 90%. A saturation of 100% is considered toxic for neonates!
Treatment of RDS in neonates
- Nasal CPAP with a PEEP of 3–8 cm H2O
(If persists, start intubation with mechanical ventilation) - Endotracheal artificial surfactant within 2 hours postpartum
- IV fluid replacement; stabilization of blood sugar and electrolytes
- AB: if congenital pneumonia
Prevention of RDS in neonates
give CS (dexa) to mother 1-7 days before delivery
What can cause acute neonatal respiratory disease?
- Transient tachypnea of the newborn (TTN)
- Congenital pneumonia
- Meconium aspiration syndrom (MAS)
- Milk Aspiration
Define transient tachypnea of the newborn (TTN)
Delayed clearance of lung fluid after birth
(presents within 4h and spontaneously resolves within 24h)
Cause of congenital pneumonia
Aspiration of infected AF
(GBS, E.coli, listeria, chlamydia)
Define persistent pulmonary hypertension of newborn (PPHN)
closed pulmonary circulation after birth
Pathophysiology of meconium aspiration syndrome
a) Hypoxia results in gasping + meconium passage in utero
b) Aspiration of meconium
c) Inhibits surfactant + obstructs respiratory tract
d) Induce pneumonitis
Prevention of meconium aspiration syndrome
if AF is stained then delivery should be induced
Cause of milk aspiration induced acute neonatal respiratory disease
Swallowing incoordination (neurological, preterm)
Upper airway disorder
Esophageal disorder (GERD/fistula)
what are the routs of acquiring neonatal infections?
- Transvaginal
- Transplacental
- During birth
- postnatal from environment
two categorize of neonatal infections
early onset infection < 48h postpartum
late onset infection >48h postpartum
Risk factors for early-onset neonatal sepsis:
‣ Prolonged rupture of membranes (>18h), especially if preterm
‣ Signs of maternal infection
‣ Vaginal carriage or previous infant with GBS
‣ Preterm labor, fetal distress
‣ Skin and mucosal breaks
Pathogens causing early neonatal infections
GBS (usually)
E. Coli
Listeria
Herpes virus
H. Influenza
Candida
Chlamydia trachomatis
Diagnosis og neonatal infections
- Blood culture
- CBC
- CSF
- Chest x-ray
- CRP but diagnostic value of CRP in early neonatal sepsis
is unclear
Broad spectrum AB?
Penicillin
Gentamicin
Flucloxacillin
Ampicillin/amoxicillin if Listeria
AB in meningitis
Cefotaxime +/- Ampicillin/amoxicillin
Risk factors for late-onset neonatal sepsis
‣ Central lines and catheters
‣ Congenital malformations, eg spina bifida
‣ Severe illness, malnutrition, immunodeficiency
Diagnosis of late onset neonatal infection
- Blood culture
- CBC
- Uranalysis (clean catch)
- urine culture
- CSF glucose (low in infection)
what AB to give in coagulase negative staph
vancomycin
transplacental congenital infection pathogens?
TORCH
Toxoplasmosis
Others (e.g., syphilis, varicella, parvovirus B19 infection, listeriosis)
Rubella
Cytomegaly (CMV)
Herpes simplex virus (HSV) infection
Common findings in TORCH infections in neonates
Hepatosplenomegaly
Jaundice
Lethargy
Growth retardation
Thrombocytopenia
syphilis treatment
Benzylpenicillin
Toxoplasmosis treatment
Spiramycin alternating with pyrimethamine + Sulfadiazin
Normal total serum bilirubin level
0,1-1,2 mg/dL
two classifications of neonatal jaundice
- Physiological
- Pathological
Type of hyperbilirubinemia in physiological jaundice
Always unconjugated
Type of hyperbilirubinemia in pathological jaundice
can be both conjugated or unconjugated
Onset of hyperbilirubinemia in pathological vs physiological jaundice
Physiological: > 24 hours after birth
Pathological: can present < 24 hours after birth
Peak bilirubin level in hyperbilirubinemia - pathological vs physiological jaundice
Physiological < 15 mg/dL
Pathological can rise to > 15 mg/dL
Daily rise in bilirubin levels in hyperbilirubinemia - pathological vs physiological jaundice
Physiological < 5 mg/dL/day
Pathological > 5 mg/dL/day
Etiologi of neonatal physiological jaundice
Hemolysis of fetal hemoglobin and an immature hepatic metabolism of bilirubin
Etiologi of Pathological hemolytic unconjugated hyperbilirubinemia
Hemolytic disease of the newborn ( ABO or Rh incompatibility)
Erythrocyte enzyme defects (G6PD deficiency, PKA deficiency)
Erythrocyte membrane defects (e.g., hereditary spherocytosis)
Hemoglobinopathies (e.g., sickle cell anemia, thalassemias)
Hematomas (vacuum delivery, vitamin K deficiency bleeding)
Infection/sepsis
Polycythemia
Etiologi of Pathological Non-hemolytic unconjugated hyperbilirubinemia
Gilbert syndrome
Crigler-Najjar syndrome
Deficiency of UDP-glucuronosyltransferase
Hypothyroidism
Etiology of pathological conjugated hyperbilirubinemia - intrahepatic
Alagille syndrome [4]
TORCH infections
Dubin-Johnson syndrome [3]
Sepsis
Idiopathic neonatal hepatitis
Alpha-1-antitrypsin deficiency
Cystic fibrosis
Galactosemia
Hypothyroidism
Medication
Etiology of pathological conjugated hyperbilirubinemia - extrahepatic
Biliary atresia
Biliary/choledochal cyst
Tumors/strictures
Treatment of neonatal jaundice
Phototherapy (primary treatment)
Exchange transfusion
IV immunoglobulins
Complications of prematurity?
- Bronchopulmonary dysplasia (BPD)
- Retinopathy of preterm infants (ROP)
- Necrotizing enterocolitis (NEC)
- Intraventricular hemorrhage (IVH)
Bronchopulmonary dysplasia (BPD)
Pulmonary barotrauma and oxygen toxicity with subsequent inflammation of lung tissue due to
ventilation of the immature lung (ventilation for more than 28 days)
Retinopathy of preterm infants (ROP)
retinal vascularization may be incomplete in premature infants and therefore continue after birth —> elevated and fluctuating partial pressures of oxygen —> pathological extraretinal
neovascularization —> hemorrhages, formation of fibrovascular membranes, and in severe cases: retinal detachment
Necrotizing enterocolitis (NEC)
Dangerous hemorrhagic inflammation of the intestinal wall that
most often affects premature infants
Intraventricular hemorrhage (IVH)
Immaturity of basal lamina + lack of astrocytic protein leads to abnormal cerebral autoregulation and failure of autoregulation during ex. birth cause rupture of and bleeding from vessels in the germinal matrix and rupture of ependyma —> blood flows into ventricles
typical symptoms of intraventricular hemorrhage in children?
Most children are asymptomatic
Lethargy
Hypotonia
Irregular respiration
Seizures
Bulging anterior fontanelle (increased ICP)
Cranial nerve abnormalities
countries with highest and lowest rates of SIDS
◦Highest rate: New Zealand, US, Argentina
◦Lowest rate: Netherlands, Japan, Sweden
Prevention of SIDS
‣ Infant should be placed in supine (on back) for sleeping
‣ Safe sleep environment: firm mattress, no pillows
‣ In first 6 months, co-sleeping without bed-sharing
‣ No second-hand smoking and overheating during sleeping
‣ Breastfeeding until 4-6 months
‣ Tummy time: when playing baby should be in prone position
‣ Immunization in line with the official schedule
SSS in children BLS
Safety
Stimulate
Shout for help
Child defibrillation strength?
4 J/kg
Children BLS adrenalin dose
10 mcg/kg
Children BLS amiodarone dose
5 mg/kg
Max 300mg
Meconium ileus?
Failure to pass the first stool in neonates (meconium usually passes within the first 24–48 hours after birth)
Clinical findings in meconium Ileus
Bilious vomiting
Abdominal distention
No passing of meconium or stool
Meconium ileus treatment
Enema with a contrast agent (injection of fluid to empty)
Surgery is required if complications (intestinal perforation, volvulus)
Intestinal atresia
Congenital defect that can occur at any point along the GI tract leading to complete (atresia) or incomplete (stenosis) occlusion of the affected lumen
clinical findings in intestinal atresia
Intrauterine: polyhydramnios
Postpartum: signs of intestinal obstruction
- Abdominal distention
- Bilious vomiting
- Failed or delayed meconium passage
common types of intestinal atresia
Duodenal atresia
Jejunal atresia
what disease is intestinal atresia commonly ass. with?
chromosomal anomalies like downs syndrom
X-ray sign of meconium ileus
Neuhauser sign: bubble like appearance in distal ileum from mixed meconium and swallowed air
X-ray sign of intestinal atresia?
Double bubble sign (air in stomach and duodenum)
Pyloric stenosis
Hypertrophic pyloric stenosis, the most common cause of gastric outlet obstruction in infants, is characterized by hypertrophy and hyperplasia of the pyloric sphincter in the first months of life.
clinical presentation of pyloric stenosis
Usually develop between 2nd and 7th week of age
Frequent regurgitation progressing to projectile, nonbilious vomiting immediately after feeding
Enlarged, thick, olive-shaped, nontender pylorus (diameter of 1–2 cm) should be palpable in the epigastrium
A peristaltic wave, moving from left to right, may be evident in the epigastrium
“Hungry vomiter”: demands re-feeding after vomiting
imaging sign in pyloric stenosis
Beak sign: distended stomach and narrow pyloric
Congenital diaphragmatic hernias
Common developmental defect, resulting from an incomplete fusion of embryonic components of the diaphragm.
Types of diaphragmatic hernias
Left-sided postero-lateral diaphragmatic defects (Bochdalek hernias) are the most common.
Anterior defects (Morgagni hernias).
50% of babies with CDH have additional congenital malformations.
clinical presentation of congenital diaphragmatic hernias
Depends on degree of pulmonary hypoplasia and HT
Respiratory distress
Barrel-shaped chest, scaphoid abdomen
Auscultation of bowel sounds in the chest
Absent breath sounds on the ipsilateral side
Mediastinal shift: shift of heart sounds to the right side
what is the most common etiology of meconium ileus?
cystic fibrosis
Define intussusception?
when a proximal part of the bowel invaginates into the distal part causing mechanical obstruction and ischemia
when does intussusception normally happen?
2 months to 2 years
Clinical presentation of intussusception
Child typically looks healthy.
Acute cyclical colicky abdominal pain
Acute attacks occur approx. every 15–30 min.
Vomiting (initially nonbilious)
Abdominal tenderness
Palpable sausage-shaped mass in the RUQ
High-pitched bowel sounds on auscultation
“Currant jelly” stool: Dark red stool (resembling currant jelly)
Lethargy , pallor or other symptoms of shock may be present
US findings in intussusception
- Target sign: invaginated part looks like rings on a target
- Pseudo- kidney sign: lead point of invagination looks like kidney
What is Hutchinson maneuver in intussusception?
surgical intervention with manual proximal compression and reduction of bowel, resection + end to end anastomosis
Define Volvulus
twisting of a bowel on its mesentery almost always due to midgut volvulus as a result of intestinal malrotation
Clinical presentation of
Bilious vomiting with abdominal distension in a neonate/infant
Signs of bowel ischemia: hematochezia, hematemesis, hypotension, and tachycardia
Define incarcerated hernia
content of hernial sac cannot return back through the abdominal wall
symptoms of mechanical bowel obstruction
sudden onset of pain, nausea, vomiting, abdominal distention, constipation or obstipation
las in appendicitis
CPR > 10 mg/L
WBC > 16.000/mL
common causes of obstipation in children
- Congenital intestinal atresia
- Intussusception
- Congenital structures like Ladd bands
- Hirschsprung disease
- Meconium ileus
- Rectal atresia
Define Hirschsprung disease
Defective caudal migration of parasympathetic neuroblasts (precursors of ganglion cells) from the neural crest to the distal colon. This process takes place between the 4th and 7th week of development.
pathophysiology of Hirschsprung disease
Inability of the myenteric plexus to control the intestinal wall muscles → uncoordinated peristalsis and slowed motility
Spastic contraction of intestinal muscles → stenosis and functional obstruction
Expansion of the colon segment proximal to the aganglionic section (possible megacolon)
Associated diseases to Hirschsprung disease
Downs syndrom
Multiple endocrine neoplasm 2 (MEN2)
Waardenburg syndrome
Neuroblastoma
Extent of Hirschsprung disease
Ultra-short segment: limited to distal rectum
Short-segment: limited to the rectosigmoid (80% of cases)
Long-segment: Distal colon up to the splenic flexure (10% of cases)
Total colonic: entire colon (3–8% of cases)
Define testicular torsion
Sudden twisting of the spermatic cord within the scrotum
at what age does most commonly testicular torsion happen
First 30 days of life
At puberty (10-14 years)
Is testicular torsion a medical emergency?
yes due to risk of ischemia and possible infarction of testis
When is testicular torsion a irreversible damage?
6-12h after torsion
Clinical feauters of testicular torsion
Abrupt onset of testicular pain and/or pain in the lower abdomen
Typically swollen/tender testis and/or lower abdominal tenderness
Nausea and vomiting
Negative Prehn sign
In neonates: possible absent testis
What is Prehn sign?
Elevation of the scrotum relives testicular pain
This sign is negative in testicular torsion and positive in epididymitis
Diagnosis of testicular torsion
Duplex US of the scrotum
Define ovarian torsion
Sudden twisting of ovary around the adnexal ligaments
when does ovarian torsion normally happen?
women of childbearing age
is ovarian torsion an medical emergency?
yes, due to risk of ischemia and ovarian necrosis
Define cryptorchidism
Failure of one or both testicles to descend to their natural position in the scrotum
Risk factor of cryptorchidism
Prematurity
Low birth weight
clinical features of cryptorchidism
Clinical features
Palpable (80% of cases): testicle cannot be manually manipulated into the scrotum
Non-palpable: may be intra-abdominal or absent
Treatment of cryptorchidism?
Typically resolves on its own
Surgery: Orchidoplexy
Classification of hemostasis and bleeding disorders
Primary hemostasis (when caused by a platelet abnormality), Secondary hemostasis (when caused by defects in the extrinsic and/or intrinsic pathway of the coagulation cascade)
Hyperfibrinolysis (when there is increased clot degradation)
What are coagulopathies, name diseases
Disorders of secondary homeostasis
Von Willebrand disease
Hemophilia
Vitamin K deficiency
Name primary homeostasis disorders
Thrombocytopenia
Von Willebrand disease types?
Type 1 AD decreased level
Type 2 AD causing decreased levels
Type 3 AR causing complete absence
Define hemophilia
Hereditary blood-clotting disorder (XR)
Types of hemophilia
Hemophilia A: low levels of clotting factor 8
Hemophilia B: low levels of clotting factor 9
Clinical features of Von Willebrand
Frequent nose bleeds
Easy brusing
Bleeding gums
Menorrhagia (>7 days)
Clinical features of Hemophilia
Large cephalohematoma
Easy brusing, swelling
Heavy breathing from cuts and surgery
what deficiency does lack of Vit K lead to?
Factors 2, 7, 9, 10
define thrombocytopenia with numbers
Thrombocytes < 150 GL
Types of anemia
Microcytic hypochromic anemia
Normocytic normochromic anemia
Macrocytic anemia
Hemoglobin levels in certain ages
Newborn 180-200 g/l (like a professional athlete)
3 months < 100 g/l
6 months - 5 years < 110 g/l
6-14 years < 120 g/l
Adult women <120 g/l
Adult men < 130 g/l
Microcytic hypochromic anemia
MCV < 75 fL
MCH < 25pg
Normocytic normochromic anemia
MCV 75-90 fL
MCH < 27 pg
Macrocytic anemia
> 90 fL
Neonatal sepsis definition?
Sepsis occur < 28 days
Early onset < 7 days after delivery
Late onset > 7 days after delivery
pathogenesis of early onset neonatal sepsis
Vertical transmission (vaginal flora, chorioamnionitis)
pathogenesis of late onset neonatal sepsis
Horizontal transmission (environment)
pathogens most commonly causing neonatal sepsis
GBS
E. Coli
Listeria
Herpes virus
Enterovirus
Candida albicans
clinical features of neonatal sepsis
Apgar < 6 points
Meconium-stained liquor (amniotic fluid)
Fever
Tachycardia, poor peripheral perfusion, hypotension, cyanosis
Dyspnea
PPHN (persistent pulmonary hypertension
Lethargy, poor feeding, vomiting, irritability, seizures
Jaundice, hepatomegaly, abdominal distension, diarrhea
AB in meningitis
Ampicillin
Cefotaxime
Ceftriaxone
Meropenem (if multidrug resistant)
AB in pneumonia
Ampicillin
Gentamicin
Vancomycin
Cefotaxime
AB in skin, soft tissue, bone infection
Vancomycin
AB in catheter related infections
Vancomycin
Gentamycin
8 subtypes of herpes virus
HHV-1: Herpes simplex virus 1 (HSV-1)
HHV 2: Herpes simplex virus 2 (HSV2)
HHV 3: Varicella zoster virus (VZV)
HHV 4: Epstein-Barr virus (EBV)
HHV 5: Cytomegalovirus (CMV)
HHV 6 + HHV 7: (roseolae)
HHV 8: Kaposi’s sarcoma associated virus (KSHV)
HHV 1 disease and treatment
Herpes labialis (cold sores)
◦Treatment: antivirals (acyclovir
HHV 2 disease and treatment
Genital herpes, viral meningitis, neonatal herpes simplex
◦Treatment: antivirals (acyclovir)
HHV 3 disease and treatment
Primary infection —> chickenpox (varicella)
Secondary infection —> shingles (zoster)
◦Treatment: vaccinations
HHV 4 disease and treatment
Infectious mononucleosis
‣ Highly contagious acute condition w/ lymphocyte proliferation
‣ Presents as fever, malaise, fatigue —> later develop acute
pharyngitis, tonsillitis, lymphadenopathy, splenomegaly
◦Treatment: symptomatic, avoid physical activity that may trigger splenic rupture (eg contact sports) for at least 3 weeks
HHV 5 disease and treatment
◦Cytomegalovirus infection
‣ Typically asymptomatic in immunocompetent patients, but can cause mononucleosis-like symptoms
‣ In immunocompromised patients it can cause localized disease (rhinitis, colitis, encephalitis) and severe systemic disease
◦Treatment: antivirals (ganciclovir, foscarnet, fomivirsen)
HHV 6 and 7 disease and treatment
◦Roseola infantum
‣ Viral exanthematous infection that mainly affects babies
‣ Characterized by high fever, followed by sudden appearance of
maculopapular rash on trunk that sometimes spreads to face
nd extremities, fading within two days
◦Treatment: self-limiting
HHV 8 disease and treatment
Kaposi sarcoma
‣ Malignant spindle cell tumor that originates from endothelial cells, mostly in immunocompromised
‣ Cause solitary or multiple nodular purplish/blue-violet/ reddish-brown submucosal, skinless plaques
◦Treatment: treat immunocompromised state (eg antiretrovirals in HIV patients)
Define measles
Measles (Rubeola) is a highly infectious disease that is caused by the measles virus.
measles transmission
direct contact or inhalation of virus
Phases of measles disease?
- Catarrhal/prodromal stage: fever, conjunctivitis, coryza (rhinitis), cough, pathognomonic Koplik spots on buccal mucosa
- Exanthem stage: high fever, malaise, exanthem (erythematous maculopapular rash) that originates behind ears and spreads to rest of body
Measles treatment
Symptomatic treatment
Vitamin A supplementation reduces morbidity and mortality (especially in malnourished children).
PEP in patients without prior vaccination
what does a measles biopsy show?
Lymph Nodes show paracortical hyperplasia and warthin-FInkeldey cells
Transmission of Rubella
Respiratory droplets
Transplacental
Phases of rubella
A) Prodromal stage: post-auricular + suboccipital lymohadenopathy, low-grade fever, mild sore throat, conjunctivitis, headache, aching joints, dermatological findings on soft palate
B. Exanthem stage: fine + nonconfluent + pink maculopapular rash (originates behind ears and extends to trunk and extremities, sparing palms and soles), polyarthritis
Scarlet fever
Scarlet fever is a syndrome caused by infection with toxin-producing group A β‑hemolytic streptococci (Streptococcus pyogenes, GAS) and primarily affects children between the ages of five and fifteen.
Phases of scarlet fever
Initial stage/acute tonsillitis
Exanthem stage
Tonsillopharyngitis
Desquamation phase
Systemic autoimmune diseases
Pediatrics Rheumatology
Juvenile Idiopathic Arthritis
Systemic lupus Erythematosus
Scleroderma
Types of juvenile idiopathic arthritis? (JIA)
Oligoarticular JIA
Seronegative polyarticular JIA
Seropositive polyarticular JIA
Systemic JIA
Psoriatic JIA
Enthesitis JIA
Pathophysiology of JIA
a) Autoimmune and/or autoinflammatory disease
b) Chronic synovial inflammation with infiltration of plasma cells, B cells, T cells
c) Joint capsule hyperplasia
d) Growth of fibrovascular connective tissue (pannus)
e) Invasion of the articular surface
f) Loss of joint function/movement
allergy skin infection
urticaria, angioedema
Allergy respiratory symptoms
Acute respiratory obstruction with laryngeal edema Bronchospasms
Type of shock
Distributive shock (Warm)
Epinephrin dose children
0,01 ml/kg
Max 0,5 mL
repeat every 15 min if needed
types of otitis media
OM with effusion
OM acute purulent
surgical treatment og OME
Incision of the tympanic membrane (myringotomy)
Etiology of acute purulent otitis media
Acute bacterial infection in the middle ear with pus. often following a URTI
Diagnosis of OME
‣ History
‣ Otoscopy: TM appears irregular, opaque, thickened, bulging outward, air bubbles, cloudy —> no longer smooth and reflective! color: pale, reddish, yellowish or bluish depending on
the effusion
‣ Pneumoscopy: ↓ or absent mobility of tympanic membrane
‣ Tympanogram: Flat type B- curve or type C-curve in mild and acute cases
‣ Hearing tests: PTA, Weber, Rinne (conductive hearing loss)
‣ Imaging: CT, MRI to rule out complications
Diagnosis of AOM
History
‣ Otoscopy, pneumoscopy
‣ Hearing tests: PTA, Weber, Rinne (hearing loss)
‣ Tympanogram: Type B-curve
‣ Imaging: plain X- ray, CT for complications
‣ Laboratory test: culture and sensitivity testing
viral bronchiolitis cause?
RSV
Influenza
Viral bronchiolitis symptoms
Starts with rhinorrhea, low fever, dry cough
Followed by wheezing dyspnea signs, end-inspiratory crackles
Forign body aspiration symptomes?
SUDDEN dry cough, generalized wheezing, choking, stridor, dyspnea, tachypnea
Tracheomalasia?
congenital disease where trachea collapses
Most common chronic disease in childhod?
broncheal asthma
trigger of asthma
Cold activity
Atopy
Infections
Allergens
Air pollution
x-ray sign in croup?
steeple sign due to narrowing
what is encephalopathy
A diffuse disruption of brain function and/or structure
pathophysiology of encephalopathy
Diffuse cortical injury
Supratentorial mass lesion
Brainstem lesion
Leading to disturbed consciousness
Etiology of Encephalopathy
Trauma
Neuro infection
Vascular/hematological disorder
Hypoxic/ischemia lesions
Tumor
Acute ventricular obstruction
Intoxication
Fluid/electrolyte disturbance
Acid/base disturbance
Endocrine disorders
Renal insufficiency
Hepatic insufficiency
Reyes syndrome
Congenital metabolic disorder
Chronic Neurological Diseases
Extrapyramidal symptoms
ADAPT:
Acute Dystonia (involuntary contraction)
Akathisia (inability to remain physically stil)
Parkinsonism
Tardive dyskinesia (uncontrollable, abnormal, and repetitive movements of the face, torso, and/or other body parts)
contraindications of lumbar puncture
- Increased intracranial pressure (risk of cerebral herniation)
- Thrombocytopenia, bleeding disorder, or ongoing anticoagulation
- Epidural abscess
- Severe respiratory compromise
where do we do a lumbar puncture?
L3-L4
What is the Cushing’s triad in increased ICP
- Bradycardia
- Irregular respiration
- Increased blood pressure
Signs + symptoms of increased intracranial pressure all ages
◦Vomiting
◦Bradycardia
◦Increased respiratory rate
◦Lethargy
◦Seizures
◦Disturbed vital functions
◦Herniation signs
◦Papillary edema
Signs + symptoms of increased intracranial pressure infants
◦Loss of appetite
◦Irritability
◦Bulging fontanelle
◦Setting-sun eyes
Meningitis symptoms older children
◦Fever
◦Loss of appetite
◦Joint and muscle pain
◦Altered mental state
◦Increased ICP
◦Positive meningeal signs
Meningitis sign in infants
◦Fever/hypothermia
◦Projectile vomiting
◦Irritability
◦Bulging fontanelle
meningitis sign in all ages
◦Petechiae (meningococcemia)
◦Seizures
◦Photophobia
◦Fever
What are some disorders of the nervous system?
Trauma
Infections
Degeneration
Structural defects
Tumors
Blood flow disruption
Autoimmune disorders
Reyes phenomenon
Viruses alter the metabolism of salicylates → accumulation of salicylate metabolites in the liver → mitochondrial injury and reversible inhibition of enzymes required for fatty acid oxidation → failure of hepatic ATP production → acute hepatic failure → hyperammonemia, metabolic acidosis, and hepatic steatosis → acute encephalopathy
Hyperammonemia → cerebral edema → ↑ ICP
meningitis types
◦Bacterial/septic: CSF cell count >1000, proteins↑↑, glucose↓↓
◦Aseptic: CSF cell count <1000, proteins↑, glucose: normal
◦Chronic granulomatous (TBC): CSF cell count <1000, proteins↑↑, glucose↓↓
what is the place of inflammation in meningitis?
Subarachnoid space
most common cause of meningitis in < 3 month olds
GBS
E. coli
Listeria
AB in meningitis if trauma/neurosurgery
meropenem
vancomycin
what is also always given in meningitis with AB
corticosteroids to avoid waterhouse Friderichsen syndrome
what is waterhouse friderichsen syndrome
acute primary insufficiency of the adrenal gland
name a immune related cause of encephalitis?
ADEM
acute disseminated encephalomyelitis (demyelination fisease in kids)
name a autoimmune related cause of encephalitis
NMDAe
Autoantibodies against NMDA receptors causing inflammation
Symptomes of encephalitis
Fever
Headache
Vomiting
Light sensitivity
Change in consciousness, hallucination, delirium
Focal signs depend on affected area
Seizures
treatment in NMDAe and ADAM encephalitis?
high dose CS
IVIG
Plasmapheresis
Etiology of secondary facial nerve palsy
Trauma (e.g., temporal bone fracture)
Infection
- Herpes zoster (Ramsay Hunt syndrome)
- Borreliosis (Lyme disease)
- HSV reactivation
- HIV
- Malignant otitis externa
Tumors (parotid gland tumors, acoustic neuroma)
Pregnancy
Diabetes mellitus
Guillain-Barré syndrome
Sarcoidosis (Heerfordt syndrome)
Amyloidosis
Stroke
how to test the parasympathetic innervation of the fascial nerve?
Schirmer’s test:
Gaustometry:
Schirmer’s test in facial nerve palsy
◦Strips of filter paper in the lower eyelid and comparing the sides
◦A 30% reduction in lacrimal secretion relative to the opposite side is considered abnormal
Gaustometry test in facial nerve palsy
◦Evaluation of taste on anterior 2/3
what can happen durin ga tonic-clonic seizure
vocal cord: screaming
Eyes: looking up/blinking
Jaw muscles: biting tongue
Oropharyngeal muscles respiratory secretion spool in mouth
Urinary and stool: incontinence
phases of seizures
Pre-ictal phase
Ictal phase
Post ictal phase
post ictal phase of tonic clonic seizure
Unresponsiveness
Confusion
Amnesia of the event
Aphasia
Fatigue
Muscular flaccidity and muscle pain
Headache
Hypersalivation with or without airway obstruction
Clinical presentation of abcent seizure
Interrupted motion or activity, blank stare, unresponsiveness
Can occur several 100/day and usually lasts < 10 seconds
Subtle automatisms (often go unnoticed): lip-smacking, eye fluttering, or head nodding are common.
Sudden onset and stop
Triggers: hyperventilation, flashing lights
causes of seizures
VITAMINE
Vascular
Infection
Trauma/Toxins
Autoimmune
Metabolic
Idiopathic
Neoplasms
S is for Psychogenic or syncope
status epilepticus?
seizure for more than 5 minutes OR multiple sezures without regaining mental status
Managment of seizures 5-10 min
First line is midezolam, diazepam, Lorazepam
Managment of seizures 10-20 min
< 1 year: Levetiracetam, Valproic acid
> 1 year: Levetiracetam, Valproic acid, Phenobarbitol
Managment of seizures after 15 min
ICU treatment
Potent antiepileptic agents Ketamines, propofol
Complications of seizures
◦Hypoventilation —> hypoxia, hypercapnia
◦Rhabdomyolysis —> organ damage (kidney failure)
◦Increased lactic acid —> metabolic acidosis
◦Abnormal blood sugar levels
◦Super-refractory (lasting > 24hrs) seizures —>
‣ Brain edema
‣ CNS injury
‣ High mortality
what is a febrile seizure?
Febrile seizures are seizures that are associated with fever (mainly temperatures exceeding 38°C (100.4°F)) in the absence of CNS infection, metabolic abnormalities, or a history of afebrile seizures.
what is the most common seizure type < 5 years of age?
febrile seizures
pathomechanism of febrile seizure
Pathomechanism: (not exactly known) increase body temp —> increased cytokine release —> neuronal
hyperexcitability
pathophysiology of DM1
autoimmune destruction of beta cells in the pancreas —> absolute insulin deficiency
DM1 symptoms in children
polyuria, enuresis (inability to control urination), polydipsia, weight loss, blurred vision
DM1 symptoms in infants
Vomiting
Dehydration
Toxicosis
Coma
diagnosis of DM1
fasting glucose > 7 mmol/l
ramdom glucose > 11.1 mmol/l
can you measure long terms blood glucose?
Hemoglobin A1C (HbA1c or A1C): glycated hemoglobin, which reflects the average blood glucose levels of the prior 8–12 weeks. if above ≥ 6.5% them DM
C-peptide in DM
C-peptide: can help differentiate between types of diabetes
↑levels may indicate insulin resistance+ hyperinsulinemia: T2DM
↓ C-peptide levels indicate an absolute insulin deficiency: T1DM
Urin analysis in DM
Urinalysis
Glucosuria: if the renal threshold for glucose is reached
Ketone bodies: positive in acute metabolic decompensation
Microalbuminuria: early sign of diabetic nephropathy
kidney treshold of glucose
It is generally accepted that when blood glucose concentrations exceed ~180 mg/dL, urinary glucose excretion occurs
autoantibody in DM1?
Antiglutamic acid decarboxylase antibodies (Anti-GAD)
An antibody against the enzyme glutamic acid decarboxylase, which is responsible for the conversion of glutamic acid to GABA
differential diagnosis of DM
Glucagonoma
Somatostatinoma
Insulin treatment - Starting dose calculation
Exogenous insulin dose will depend on the residual insulin.
Total daily dose (TDD) of insulin: usually ∼ 0.4–1.0 units/kg/day, divided into 50% basal and 50% prandial insulin.
Consider initiating treatment with 0.5 units/kg per day.
Fast acting insulin:
Normal acting:
Long acting insulin:
Fast acting insulin: Aspart, Lispro, Glusin
Normal acting: Regular insulin NPH
Long acting insulin: Glargin, Detemir
patophysiology of ketoacidosis
- Insulin deficiency → hyperglycemia → hyperosmolality → osmotic diuresis and loss of electrolytes → hypovolemia
- Insulin deficiency → ↑ lipolysis → ↑ free fatty acids → hepatic ketogenesis → ketosis → bicarbonate consumption (as a buffer) → anion gap metabolic acidosis
- Insulin deficiency → hyperosmolality → K+ shift out of cells + lack of insulin to promote K+ uptake → intracellular K+depleted → total body K+ deficit despite normal or even elevated serum K+
Managment of kedoacidosis
1.Fluid resuscitation: isotonic saline (0.9% NaCl)
2. Potassium repletion: for potassium level < 5.3 mEq/L
3. Insulin therapy: short-acting insulin once potassium > 3.3 mEq/L
4. IV NaHCO3 only for severe refractory metabolic acidosis
5. Identify and treat precipitating causes (e.g., sepsis).
6. Consider endocrine consult and admission to the ICU.
complication of to fast fluid res. in DKA
Cerebral edema
Congenital adrenal hyperplasia (CAH)
Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive defects in the enzymes that are responsible for cortisol, aldosterone, and, in very rare cases, androgen synthesis
3 subtypes of CAH
21β-hydroxylase (∼ 95% of CAH) (high androgens)
11β-hydroxylase (∼ 5% of CAH) (high androgens)
17α-hydroxylase (rare) (low androgens)
female with 21β-hydroxylase deficiency
Clitoromegaly and/or male external genitalia along with a uterus and ovaries
Precocious puberty
Virilization, irregular menstrual cycles, infertility
male with female with 21β-hydroxylase or 11β-hydroxylase deficiency
Normal male external genitalia at birth
Precocious puberty
female with 11β-hydroxylase deficiency
Normal female external genitalia at birth
Delayed puberty (primary amenorrhea) or sexual infantilism
Male with 11β-hydroxylase deficiency
Female external genitalia with a blind-ending vagina and intra-abdominal testes at birth
Delayed puberty or sexual infantilism
General symptomes of CAH
Hypoglycemia
Adrenal crisis → vomiting and diarrhea → dehydration
Failure to thrive
Hyperpigmentation in areas that are not exposed to sunlight (e.g., palm creases, mucous membranes of the oral cavity, genitalia) is a common feature in all forms of CAH.
what can happen to a infants with 21β-hydroxylase deficiency
Can present with shock within the first few weeks of life because of severe dehydration due to an adrenal crisis and salt-wasting due to hypoaldosteronism.
Treatment of CAH
Therapy aims to replace deficient hormones and reduce excess androgen production.
Glucocorticoid replacement therapy is indicated in all forms of CAH
Neonatal features of hypothyroidism
Abdominal distention
Delayed passage of meconium
Umbilical hernia
Prolonged neonatal jaundice
Hypotonia
Decreased activity, poor feeding, and adipsia
Hoarse cry, macroglossia
Hypothermia
Failure to thrive (length affected more than weight)
Etiology of congenital hypothyroidism
Primary: most common (ectopic thyroid gland, aplasia
Secondary: pituitary aplasia, cerebral midline defects
Transient: temporary deficiency
What causes transient hypothyroidism
Maternal autoimmune thyroiditis
Maternal drug use (thyrostatics, amiodarone)
Maternal iodine deficiency,
Preterm baby (immature hypothalamic-pituitary axis)
how is the onset of symptoms in congenital hypothyroidism
Usually little to no features are present at birth as maternal T4 can cross the placenta.
Features can develop over weeks to months if screening is not performed.
Features can be apparent at birth in fetal iodine deficiency syndrome.
complication of hypothyroidism in children
Cretinism —> from untreated hypothyroidism that leads to impaired development of
the brain and skeleton —> skeletal abnormalities + permanent intellectual disabilities
Cause of neonatal hyperthyroidism
Occurs in ∼ 5% of babies born to mothers with Graves disease
Etiology: transplacental passage of maternal TRAbs
clinical features of hyperthyroidism in neonates
Irritability
Restlessness
Tachycardia
Diaphoresis (sweating)
Hyperphagia (extreme hunger)
Poor weight gain
Diffuse goiter (can cause tracheal compression), microcephaly (due to craniosynostosis)
treatment of congenital hyperthyroidism
Resolves on its own after 1-3 months
If symptomes : Methamizole (decrease synthesis)
Propanolol (decrease heartrate)
most common cause of hyperthyroidism in children?
Graves disease
treatment of Graves disease
‣ Antithyroid medications: 1st line) Methamizole
‣ Symptom control: beta-blockers (atenolol, propanolol)
‣ Radioactive iodine ablation: potential first line treatment in patients >10 years or second line if relapse after long-term therapy
‣ Surgery (near-total thyroidectomy): in children <5 years who do not improve with antithyroid drugs or if have large goiters
what is osteomalacia and rickets?
Osteomalacia is a disorder of impaired mineralization of the osteoid
Rickets is a disorder of impaired mineralization of cartilaginous growth plates.
clinical features of osteomalacia
Occurs in adults and children
Bone pain and tenderness
Pathologic fractures
Waddling gait and difficulty walking
Myopathy
Muscle weakness
Spasms
Cramps
Bone deformity only in very severe cases of osteomalacia
clinical features of rickets
Only occurs in children (growth plates have not fused)
Bone deformities
Bending of primarily the long bones
Distention of the bone-cartilage junctions
Marfan sign
Impression of a double medial malleolus on inspection and palpation of the ankle
Craniotabes: softening of the skull
Deformities of the knee, especially genu varum
Increased risk of fracture
Harrison groove: depression of the thoracic outlet due to muscle pulling along the costal insertion of the diaphragm
Late closing of fontanelles
Impaired growth
Cause of both osteomalacia and rickets
Vitamin D deficiency resulting from inadequate intake, malabsorption, or lack of exposure to sunlight.
pathophysiologyy of vitamin D deficiency (consequence)
Hypocalcemia → defective bone matrix mineralization (osteomalacia) or cartilaginous growth plate mineralization (rickets).
Hypocalcemia → ↑ PTH levels → ↓ phosphate levels → impaired mineralization.
Diagnosis of osteomalacia and rickets
Laboratory tests
↓ Calcium and ↓ phosphate
↑ Alkaline phosphatase and ↑ PTH
Vitamin D-dependent rickets type 1: ↓ calcitriol concentration
Vitamin D-dependent rickets type 2: ↑ calcitriol concentration
treatment of osteomalacia and rickets
VItamin D
What is IgA vasculitis
(Henoch-Schonlein purpura, Anaphylactoid purpura)
IgA vasculitis (IgAV), formerly known as Henoch-Schonlein purpura (HSP), is an acute immune complex-mediated small vessel vasculitis that most commonly occurs in children.
etiology of Henoch-Schonlein purpura
Preceding infection
Up to 90% of cases preceded by viral or bacterial infection 1–3 weeks prior
Most commonly an URTI caused by group A Streptococcus
GI infections also possible
IgA nephropathy
Drugs (especially β-lactam antibiotics and antiarrhythmics) Vaccines (Yellow fever)
pathophysiology of Henoch-Schonlein purpura
Deposition of IgA immune complexes in vascular walls (in the skin, GI tract, joints, kidneys) → activation of complement → vascular inflammation and damage
Symptome onset in Henoch-Schonlein purpura
Symptom onset often 1–3 weeks after an infection, typically affecting the upper respiratory tract
clinical manifestation of Henoch-Schonlein purpura
PAPAH:
purpura, abdominal pain, arthritis/arthralgia, and hematuria
treatment of Henoch-Schonlein purpura
Most cases of IgAV are self-limiting and only require supportive care (e.g., pain management) with regular outpatient follow-up. Severe IgAV requires hospitalization and intensive medical therapy.
Define kawasaki syndrome
Kawasaki disease is an acute, necrotizing vasculitis of unknown etiology.
Clinical diagnosis of Kawasaki
- Requires fever for at least 5 days + either:
> 4 spesific symptomes
< 4 spesific symtpmes but coronary artery involvement
Kawasaki specific symptoms
Erythema + edema of hands and feet (first week)
‣ Desquamation of fingertips and toes (2-3 week)
‣ Polymorphous rash originating from trunk
‣ Conjunctivitis without exudate
‣ Oropharyngeal mucositis: strawberry tongue or cracked red lips
‣ Cervical lymphadenopathy
lab findings in Kawasaki
Laboratory findings
↑ ESR and CRP
Leukocytosis
Thrombocytosis
↑ AST, ALT
treatment in Kawasaki
IV immunoglobulin (IVIG)
High single-dose to reduce the risk of coronary artery aneurysms
Most effective if given within the first 10 days following disease
High-dose oral aspirin
IV glucocorticoids: may be considered in addition to standard treatment, esp. in cases of treatment-refractory disease, as they lower the risk of coronary involvement
what is MISC
MISC-C is a complication of COVID-19 in children that manifests with hyperinflammation, severe illness, and involvement of multiple organ systems.
clinical features of MISC
Fever
Gastrointestinal symptoms
Mucocutaneous symptoms
Shock
Diagnostic criteria: of MISC
All of the following must be met
Age < 21 years
Fever (documented fever ≥ 38°C (100.4°F) OR report of subjective fever lasting ≥ 24 hours
Laboratory evidence of inflammation (e.g., ↑ CRP, ↑ ESR, ↑ neutrophils)
Involvement of ≥ 2 organ systems (including the hematological system)
Severe illness requiring hospitalization
Confirmed current or recent SARS-CoV-2 infection OR exposure to an individual with COVID-19 < 4 weeks prior to symptom onset
No other plausible diagnosis
treatment of MISC
Initial treatment: intravenous immunoglobulin PLUS methylprednisolone
Antithrombotic therapy (unless contraindicated
Cause of UTI in children
Escherichia coli (in up to 90% of cases)
Klebsiella pneumoniae
Proteus mirabilis [2]
Enterococcus faecalis
Enterobacter species
Rarely: Pseudomonas aeruginosa, group B Streptococcus, Staphylococcus aureus
special about UTI not due to E. coli?
UTIs caused by a pathogen other than E. coli are considered atypical pediatric UTIs.
risk factors of UTI in pediatrics
All ages
- Female sex
- Personal or family history of CAKUT
- Bowel and bladder dysfunction (e.g., chronic constipation)
- Instrumentation of the urinary tract
Children ≤ 24 months of age
- Uncircumcised boys
- Age < 12 months
Children > 24 months of age and adolescents
- Kidney stones
- Diabetes
- Sexual activity
symptoms of UTI
Urinary frequency
Dysuria
Suprapubic pain
Flank pain
Fever
Classification of UTI
Classification: depending on level of infection
◦Upper urinary tract infection: pyelonephritis
◦Lower urinary tract infection: cystitis
◦Uncomplicated: limited to the lower tract, age >2, no underlying medical problems or anatomical malformations, caused by typical microorganism
◦Complicated: if any of above is false
diagnosis of UTI
Dipstick
Urine culture
Microscopic evaluation
Diagnosis of UTI in children not potty trained?
catherization, suprapubic aspiration, (sterile collection
bag - not recommended)
UTI treatment
Start empiric antibiotics for pediatric UTI (e.g., cephalosporins) while awaiting urine culture results.
Adjust treatment when culture results become available.
Provide supportive treatment, e.g., antipyretics, analgesia.
If fever persists for > 72 hours, consider urgent imaging for pediatric UTI to rule out renal abscess.
Admission criteria for pediatric UTI
IV antibiotics required
Consider admitting patients with any of the following:
Age 1–2 months
Significant renal tract anomalies
Barriers to follow-up
Considerations in neonates with UTI:
◦Blood culture should also be obtained for diagnosis (but relative high risk of an urosepsis)
◦US is recommended to identify structural abnormalities
◦Empiric treatment: ampicillin + gentamicin 10-14 days, then amoxicillin until radiologic evaluation is done
VACTERL syndrom in babies
Vertebral anomalies
Anal atresia
Cardiovascular anomalies
Tracheoesophageal fistula
Esophageal atresia
Renal anomalies
Limb defects
Kidney malformations
Renal agenesis (failure to develop)
Renal hypoplasia (smaller in size)
Horseshoe kidney
Kidney dysplasia (abnormal histology)
Multicystic dysplastic kidney
Ectopic kidney (no migration)
Hydronephrosis
Duplex kidney
if the child has horsechoes kidney what is important to look for?
Males: Gonadal dysgenesis
Female: Turner syndrom
Progression of polycystic kidney disease
cysts and their size increases with age
types of polycystic kidney disease
ARPKD (less common)
ADPKD (more common)
Mutation in ARPKD
PKHD 1 gene mutation
Types of polycystic kidney disease
ADPKD (most common)
ARPKD (less common)
Mutation in ADPKD
PKD1 mutation
Mutation in ARPKD
PKHD1 mutation
Clinical presentation of ARPKD
Symptoms manifest in infancy or childhood.
Intrauterine oligohydramnios (low amniotic fluid)
pulmonary hypoplasia - neonatal resp distress
Early HTN
Urinary sepsis
End stage kidney failure by 18
Clinical presentation of ADPKD
Symptoms usually occur after 30 years of age
Gross hematuria
Flank or abdominal pain
Recurrent urinary tract infections
Nephrolithiasis
Kidneys might be palpable and enlarged
Multiple benign hepatic cysts (prevalence increases with age)
Cysts may also occur in the pancreas, spleen, ovary, and testicles.
Berry aneurisms
Ureter development disorders
Pyelouretral junction (PUJ) stenosis
Ureter-vesicular junction (UVJ) stenosis
Ureterocele
Vesico-ureteral reflux (VUR)
types of bladder abnormalities
Bladder Extrophy
Bladder diverticulum
Urachus persistence
Bladder extrophy
◦Complex, severe developmental disorder
◦Abdominal wall defect in lower abdominal region —>
bladder is herniating outside of skin
◦Diagnosis: after birth
◦Treatment: surgery
Bladder diverticulum
◦Bladder mucosa protrudes btw muscle fibers
◦Can be caused by subvesicular obstruction
◦Symptoms: UTI, obstruction, VUR, stones
◦Diagnosis: US, MCU, exclusion of primary cause (obstruction)
◦Treatment: resection, treat primary cause
Urachus persistens
◦The embryonic passage connecting the tip of the bladder to
the navel is not absorbed/closed —> remnant structure
◦Caused by subvesicular obstruction with high pressure in
the bladder
◦Symptoms: moist navel (urine), soft tissue inflammation
◦Diagnosis: US, fistulography, MCU
◦Treatment: surgery
Urethra anomalies
PosteriorUrethral valve
Hypospadius
Epispadius
Glomerulonephritis definition
A condition in which the tissues in the kidney become inflamed and have problems filtering waste from the blood.
Glomerulonephritis clinical symptoms
◦Hematuria
◦Oliguria
◦Edema
◦Hypertension
◦Variable proteinuria
Glomerulonephritis etiology
Post-infectious: most common
MPGN (membranoproliferative glomerulonephritis)
IgA nephropathy
Systemic lupus erythematosus
Subacute bacterial endocarditis
Shunt nephritis
Post infectious Glomerulonephritis etiology
‣ Bacterial: streptococci (most common), staphylococci, mycoplasma, salmonella
‣ Viral: herpesvirus (EBV, varicella, CMV)
‣ Fungi: candida, aspergillus
‣ Parasites: toxoplasma, malaria, schistosomiasis
what NOT to use in renal disease
ACEI
Nephrotic syndrom
Nephrotic syndrome is a collection of signs and symptoms indicating damage to the glomerular filtration barrier. Characterized by:
1. Massive proteinuria (> 3.5 g/24 hours)
2. Hypoalbuminemia
3. Edema
Define presentations in Nephrotic syndrome
◦Proteinuria (urinary protein to creatinine ratio >200 mg/mmol)
◦Hypoalbuminemia (albumin <25 g/l)
◦Edema
◦Hyperlipidemia
nephrotic range of proteinuria
proteinuria > 3.5 g/24 hours
Etiology of nephrotic syndrom
Minimal change disease
Focal segmental glomerulosclerosis
Membranous nephropathy
Membranoproliferative glomerulonephritis
Diabetic nephropathy
Amyloid nephropathy
Lupus nephritis
Diagnosis of nephrotic syndrom
◦Urinalysis: protein +++
◦Microscopy: hematuria/casts (suggests other than MCD)
◦Culture
◦Protein:creatinine ratio
◦Serum albumin
◦C3/C4 (if decreased not MCD)
◦Lipids
◦Immunoglobulins
◦Renal biopsy if steroids are not helping
Nephrotic syndrom hypoalbuminemia value
hypoalbuminemia (less than 30 g/L)
Cyanotic congenital heart defects
Hypoplastic left heart syndrome
Persistent truncus arteriosus
Total anomalous pulmonary venous return
Tricuspid valve atresia
Transposition of great vessels
Tetralogy of Fallot
Hypoplastic left heart syndrome
Tetrad of fallot
Characterized by four particular abnormalities:
Right ventricular outflow obstruction due to pulmonary stenosis
Right ventricular hypertrophy
Ventricular septal defect (VSD)
Overriding aorta (above the VSD) misplaced aorta
tetrad o fallot clinical symptoms
◦Boot-shaped heart on x-ray
◦Patients learn to squat in response to cyanosis —> increase systemic resistance —> more blood
flow through stenotic pulmonary arteries to lungs
Transposition of the great vessels
- Characterized by pulmonary a. arising from LV + aorta arising from RV
- Associated with maternal diabetes
- Clinical features:
◦Early cyanosis —> pulmonary + systemic circuits do not mix
PDE is given to maintane PDA until surgery
tricuspid atresia
Absent or rudimentary tricuspid valve resulting in no blood flow between RA and RV
truncus arteriosus
Underdevelopment of aorticopulmonary septum —> failure of truncus arteriosus to divide into the aorta
and pulmonary trunk —> instead a single trunk that receives output from both ventricles
hypoplastic left heart syndrom
Spectrum of disease consisting of severe hypoplasia of left ventricle with possible and/or atresia of the
mitral valve, aortic valve, or aortic arch
Total anomalous pulmonary venous return (TAPVR)
All four pulmonary veins drain into systemic venous circulation instead of left ventricle —> oxygenated
blood returns back to right atrium —> pulmonary edema
Non-cyanotic heart defects
Arial septal defect
Ventricular septal defect
Atrioventricular septal defect
Patent ductus arteriosus
Coarctation of aorta
what is Eisenmenger syndrom
when a ventricular septal defect shunting L-V changes to R-L due to RV hypertrophy
infection ass with patent ductus arteriosus
congenital Rubella
pharma to close PDA
Indomethacin decreases PDE causing closure of PDA
Calori need for children
< 10kg : 100kcal/kg
> 10kg: 1000kcal/day + 50kcal per kg over 10
> 20kg: 1500kcal/day + 20kcal per kg over 20
Vit D dose for infants
one drop (450-500 U)
Malabsorption classification
Impaired intraluminal digestion
Intestinal malabsorption
Malabsorption due to fermentation (maldigestion of carbohydrates)
celiac disease
Definition: autoimmune disorder characterized by an intestinal hypersensitivity to gluten, a grain protein
Synonyms: celiac sprue; gluten-sensitive enteropathy
Celiac disease etiology
Asociation to HLA antigens
- HLA-DQ2 in 90–95% of patients
- HLA-DQ8 in 5–10% of patients
Consuming gliadin from grains such as wheat, rye, and barley leads to an autoimmune reaction within the small intestinal wall.
Celiac disease pathophysiology
- Consumption of food containing gluten
- Tissue transglutaminase is released → modifies gliadin from gluten 3. Pathogenic T cells react to and are activated by modified gliadin
- Mediate chronic intestinal inflammation
- Epithelial damage resulting in villous atrophy, crypt hyperplasia, and loss of brush border
- Impaired resorption of nutrients in the small intestine (especially in the distal duodenum and proximal jejunum)
- Malabsorption symptoms
GI symptoms in celiac disease
Chronic or recurring diarrhea: steatorrhea
Flatulence, abdominal bloating, and pain
Nausea/vomiting
Lack of appetite
Constipation (rarely)
Extraintestinal symptoms in children
◦Chronic abdominal pain, distension
◦Chronic fatigue
◦Failure to thrive, weight loss, stunted growth
◦Iron-deficiency anemia
◦Dermatitis herpetiformis rash (Duhring disease)
◦Diarrhea, obstipation
◦Delayed puberty, amenorrhea
◦Nausea, vomiting
◦Recurrent aphthosus stomatitis
◦Abnormal live biochemistry
◦Osteoporosis, osteopenia
Diagnosis of celiac disease
- Clinical suspicion of CD or risk group for CD? yes —>
- Measure transglutaminase ab (TGA-IgA) & total IgA? positive —>
(If negative —> esophagogastroduodenoscopy biopsies distal duod) - Test for endomysial antibodies (EMA-IgA), positive —>
(If negative —> esophagogastroduodenoscopy biopsies distal duod)
duodenal biopsy in celiac disease
Taken from distal duodenum (min 4x) and duodenal bulb (min 1x)
not done in children unless absolutley needed
Gluten free diet is
Not allowed: wheat, barley, bulgur, cuscus, malt, normal beer, cans, instant coffee
what is normally secreted in the bile
bile acids
bilirubin
cholesterol
etiology of cholestasis
◦Biliary atresia
◦Alagille syndrome
◦Alpha-1 antitrypsin deficiency
biliary atresia
◦Uncommon disease in infants
◦Closed/discontinuous biliary tracts
◦Destructive, obliterative cholangiopathy that affects both intra- and extrahepatic bile ducts
Allagile syndrome
Uncommon genetic condition characterized by intrahepatic biliary duct aplasia or hypoplasia
◦Autosomal dominant inheritance of mutation in the JAG1 gene
Diagnosing allagile syndrom
5 major criteria: 3 is needed (interlobular bile duct atresia + 2)
* Interlobular bile duct absence/cholestasis
* Cardiac malformation/insufficiency
* Spine deformity
* Characteristic face
* Ocular abnormality
Alpha-1 antitrypsin deficiency
Genetic disorder characterized by the accumulation of defective alpha-1 antitrypsin enzyme
◦Caused by mutation in the SERPINA1 gene
Alpha-1 antitrypsin deficiency effect on liver and lungs
Effect on liver: accumulation of faulty AAT in hepatocellular endoplasmic reticulum —> hepatocyte destruction —> hepatitis and liver cirrhosis
Effect on lungs: deficient AAT —> uninhibited protease activity —> destruction of pulmonary parenchyma —> paracinar emphysema (differ from centrilobular emphysema from smoking)
Viral Hepatitis transmission
◦Hepatitis A —> fecal-oral transmission
◦Hepatitis B —> blood/sexual transmission
◦Hepatitis C —> blood/sexual transmission
Hepatitis symptoms
Fever, fatigue, malaise, anorexia, nausea, arthralgia, RUQ pain, jaundice +/- hepatomegaly, splenomegaly, adenoma they, urticaria
hepatitis diagnosis
◦Increased liver enzymes: ↑ALT, ↑AST, ↑GGT, ↑ALP
◦Viral serology (IgM antibodies), viral PCR, blood culture
NAFLD in childhood
One of the most common causes of chronic liver disease in young people in the developed world
NAFLD in childhood pathophysiology
Increased insulin resistance —>
◦↑Hepatic uptake of fatty acids
◦↑Triglyceride synthesis
◦↑Peripheral lipolysis
treatent of NAFLD
Treatment: few efficient ones in pediatrics
◦Insulin sensitisers (not recommended)
◦Statins (only in adults)
◦Vitamin E (conflicting results)
◦Docosahexaenoic acid (DHA) (encouraging results)
◦Probiotics (potential effect)
Autoimmune hepatitis types
Type 1 (80%): characteristic ANAs, ASMAs, anti-soluble liver antigen Abs
Type 2: characteristic anti-liver-kidney Abs, anti-liver cytosol Abs
◦Seronegative autoimmune hepatitis/ hepatitis associated aplastic anemia (HAA)
◦Giant cell hepatitis with autoimmune hemolytic anemia
◦De novo -alloimmune- hepatitis post liver transplantation
treatment of autoimmune hepatitis
Immunosuppressive medications
Transplant
Most common infectious enteritises
Bacterial enteritis
Viral gastroenteritis
◦Common pathogens in viral enteritis
‣ Fall-winter: Rotavirus (6 months-2 years), Astrovirus (<4 years)
‣ All around the year: Norovirus (all ages, highly contagious), Sapovirus
clinical presentation of viral enteritis
non-bloody diarrhea, vomiting, fever, abdominal pain, anorexia, headache,
myalgia
Bacterial enteritis symptoms
high fever, tenesmus, severe abdominal pain, gross blood or mucus in the stool
◦Common pathogens in bacterial enteritis
Shiga-toxin producing E. Coli (STEC), Salmonella, Shigella, Clostridium
difficile, Campylobacter Jejuni, Yersinia enterocolitica
treatment in bacterial enteritis
Azithromycin
Inflammatory bowel disease (IBD)?
- Ulcerative colitis (UC) or Crohn’s disease (CD)
risk factor of IBD
◦Antibiotic administration, smoking, lack of breastfeeding, familial IBD (2-8x higher risk if parent has IBD)
◦Breast milk reduces incidence of CD by 33% and UC by 23%
Chron’s disease appearance
◦Wall involvement: transmural, with knife-like fissures
◦Location: anywhere from mouth —> anus with skip lesions, terminal ileum is the most common
◦Symptoms: right lower quadrant pain (ileum) with non-bloody diarrhea, weight loss, appetite loss
◦Inflammation: lymphoid aggregates with granulomas
Ulcerative colitis (UC) appearance
◦Wall involvement: mucosal + submucosal
◦Location: ONLY colon, begins in rectum —> spreads proximal up to cecum (continuous/segmental)
‣ 1st: proctitis —> 2nd: proctosigmoiditis (“left-side colitis”) —> 3rd: extensive colitis —> 4th:
pancolitis
◦Symptoms: left lower quadrant pain (rectum), bloody diarrhea, increased number of stool, mucus in
stool, urgency, fecal incontinence, 25% experience obstipation, tenesmus (feeling of fecal residue)
◦Inflammation: crypt abscesses with neutrophils
◦Gross appearance: psedupolyps
Extraintestinal manifestations of IBD
◦Eye symptoms: uveitis, episcleritis, keratopathy
◦Skin symptoms: erythema nodosum, pyoderma gangrenosum, metastatic Crohn’s disease (skin lesions in areas not connected to GI tract)
◦Joint symptoms: arthritis, sacroileitis
◦Other: fever, growth retardation, delayed puberty, hepatitis, pancreatitis
Endoscopic findings in IBD
‣ CD: granuloma
‣ UC: crypt abscesses
indicates acute severe ulcerative colitis
≥ 6 bowel movements daily
≥ 1 sign of systemic toxicity (e.g., tachycardia, fever, hemoglobin < 10.5 g/dL, ESR > 30 mm/hour)
chrons treatment
CD: exclusive enteral nutrition (EEN): nasogastric tube insertion and strict formula-based (no solid-food) Better then steroids
UC treatment
anti-inflammatory (5-ASA: aminosalicylate), steroids
UC treatment
Mesalasin and steroids
classification of UC
Ulcerative proctitis (E1) - Limited to the rectum
Left-sided ulcerative colitis (E2) - Limited colon distal to the splenic flexure
Extensive ulcerative colitis (E3) - Extends proximal to the splenic flexure
Enuresis?
Repeated involuntary elimination of urine that is inappropriate for developmental age (bed-wetting)
Diagnostic criteria: Enuresis
1) occurs 2x/week > 3 months
2) patients developmental age must be 5 or more
3) symptoms not caused by medication/other medical condition
types of Enuresis
Nocturnal (mostly boys) or diurnal (mostly girls)
Primary (patient never achieved continence)
Secondary (after patient achieved continence)
Enuresis treatment
First line: fluid restriction at night, behavioral training, timed voiding, parent management training, psychoeducation
Second line: desmopressin, behavioral training with an enuresis larm
Define Polyuria and polydipsia
- Polyuria: excessive urinary output
- Polydipsia: excessive thirst/drinking
etiology of Polyuria and polydipsia
Primary polydipsia
Diabetes insipidus
Diabetes mellitus
Polyuria and polydipsia in DM why
Chronic hyperglycemia cause excess excretion of glucose —> osmotically active glucose particles draws water with them —>↑urination —>↑fluid loss —>↑thirst
Polyuria and polydipsia in Diabetes insipidus
Kidneys are not able to concentrate urine —>↑urination —>↑fluid loss —>↑thirst
Polyuria and polydipsia in primary polydipsia
Excessive oral intake of fluid in the absence of physiological stimulus to drink —>↑fluid volume —>↑urination —>↑fluid loss —>↑thirst
‣ May include psychogenic polydipsia secondary to psychoses or other mental disorders
Classification of edema
◦Peripheral (edema of extremities)
◦Central (edema in organs and body cavities)
◦Pitting edema ( indentation left by pressure on the site of the swelling)
◦Non-pitting edema (no residual indentation left by pressure on the site of swelling)
Anion gap
[Na + K] - [Cl + HCO3], normally 10-15 mmol/l
Fluid therapy in kids
< 10kg - 4ml/kg/h
>10 kg 40ml/kg/h +2 ml/kg for every kg over 10
Sudden infant death syndrome (SIDS)?
unexplained death of an infant (under 1 year old). Diagnosis requires that a forensic examination reveals no other cause of death.
