Infections, Immunity, Gastro-enterology and Child Neurology Practice Flashcards

A comprehensive set of vocabulary flashcards covering pediatric infectious diseases, immunology, gastro-enterology, and neurology based on lecture notes.

Infection

The number one cause of acute illness in children, with respiratory infections and diarrhea being the most prominent causes of mortality globally.

Pneumonia (Pediatric)

Characterized by the clinical triad of tachypnea, fever, and coughing; respiratory rate must be counted for a full minute to be accurately assessed.

Sepsis (Pediatric)

A life-threatening emergency characterized by tachycardia, tachypnea, and poor peripheral circulation.

Meningitis/Encephalitis

Can present aspecifically with vomiting, lethargy, or coma, and may occur without fever, especially in young children.

Red Flags for Sepsis Screening

Includes pale/mottled/blue skin, petechiae, dehydration/shock, bulging fontanelle, and seizures.

Bile Vomiting

An absolute red flag indicating high gastrointestinal obstruction that requires immediate intervention to prevent shock and death.

Bulging Fontanelle

An indicator of increased intracranial pressure, often associated with meningitis or encephalitis.

Listeria monocytogenes

A pathogen to be suspected in sepsis or meningitis cases involving children younger than $3$ months; typical treatment includes ampicillin plus a third-generation cephalosporine.

Opisthotonus

An abnormal, cramped posture where the child arches backward, often seen in cases of bacterial meningitis.

Brudzinski Sign

A clinical sign of meningitis where a child spontaneously flexes their legs when their neck is bent.

Kernig Sign

A clinical sign of meningitis where extending the leg from a flexed position causes the buttocks to lift due to traction on the meninges.

Lumbaar Punctie (LP)

A procedure typically performed at the $L4-L5$ level to aspirate cerebrospinal fluid for suspected meningitis; contraindicated by instability or signs of increased intracranial pressure.

Toxic Shock Syndrome (TSS)

A systemic inflammatory condition caused by toxin-producing $S. aureus$ or $S. pyogenes$, presenting with high fever, hypotension, and a diffuse erythematous rash.

Necrotizing Fasciitis

A deep subcutaneous infection of the fascia and muscle requiring IV antibiotics and surgical debridement; often follows varicella or minor wounds.

Goutte de Rosée sur Pétale de Rose

The classic 'dewdrop on a rose petal' description of the vesicles seen in Varicella (chickenpox).

Mononucleosis (EBV)

Also known as 'kissing disease', characterized by fever, lymphadenopathy, tonsillopharyngitis, and hepatosplenomegaly; atypical lymphocytes are seen on a blood count.

Roseola Infantum (Exanthema Subitum)

Caused by $HHV6$ or $HHV7$, featuring a high fever for $3$ days that disappears as a macular rash emerges.

Koplik Spots

White spots on the buccal mucosa that are pathognomonic for Measles.

Kawasaki Disease

An acute systemic vasculitis affecting small and medium arteries, especially coronary arteries, diagnosed by fever for $>5$ days and specific clinical criteria.

Strawberry Tongue (Frambozentong)

A hallmark sign of Kawasaki Disease involving redness, edema, and fissures of the tongue and lips.

Erythema Chronicum Migrans (ECM)

The characteristic bullseye rash seen in the first stage of Lyme disease following a tick bite.

Primary Immune Deficiencies (PID)

A group of over $500$ monogenetic congenital conditions; warning signs include $>8$ ear infections per year or $2$ or more pneumonias per year.

X-linked Agammaglobulinemia (Bruton)

A PID caused by a mutation in $Btk$ resulting in an absence of mature B cells and antibodies; typically presents with recurrent infections starting at $4-12$ months.

Severe Combined Immune Deficiency (SCID)

A pediatric emergency characterized by the absence of T cells and a thymus; presents with lymphopenia, failure to thrive, and persistent oral candida.

Chronic Granulomatous Disease (CGD)

A neutrophil dysfunction disorder involving the $NADPH$ oxidase system, leading to life-threatening fungal and bacterial infections and granuloma formation.

Gastro-esophageal Reflux Disease (GERD)

Pathological reflux in infants diagnosed when $pH$ is $<4$ for >10\text{%} of a $24$-hour measurement, potentially causing apnea or failure to thrive.

Pyloric Stenosis

Hypertrophy of the pyloric muscle causing projectile vomiting and dehydration in infants aged $2-8$ weeks; often reveals an 'olive sign' on palpation.

Invagination (Intussusception)

An emergency where a segment of bowel slides into another, presenting with 'currant jelly' stools and a target sign on ultrasound.

Ziekte van Hirschsprung

A condition defined by the absence of ganglion cells in the myenteric plexus, leading to chronic constipation and failure to pass meconium within $24$ hours of birth.

Coeliac Disease

An immune-mediated gluten intolerance causing villus atrophy; diagnosed via $tTGA$ serology and duodenal biopsy.

Duchenne Muscular Dystrophy (DMD)

An X-linked genetic muscle disease involving a dystrophin mutation; characterized by pseudohypertrophy of the calves and a positive Gowers maneuver.

Spinal Muscular Atrophy (SMA)

A recessive disorder caused by an $SMN$ gene mutation leading to the degeneration of alpha-motor neurons in the spinal cord; treatments include Zolgensma and Nusinersen.

Rett Syndrome

A progressive brain disorder primarily in girls, caused by a $MECP2$ mutation; features include hand-wringing movements and regression of development.

Fragile X Syndrome

A frequentcause of inherited intellectual disability caused by $FMR$ gene repeats; physical signs include a long face, large ears, and macroorchidism.

Cerebral Palsy

A non-progressive permanent brain injury occurring in development; symptoms include spasticity (hemiplegia, diplegia, or quadriplegia) and visual perception issues.

Periventricular Leukomalacia (PVL)

Softening of the white matter near the brain's ventricles due to ischemia/hypoxia, frequently leading to cerebral palsy in premature infants.

Absence Epilepsy

A form of generalized epilepsy characterized by brief staring spells ($5-15$ seconds) and pathognomonic $3\text{ Hz}$ spike-and-wave complexes on an EEG.

Westsyndroom (Infantile Spasms)

A triad of infantile spasms, regression in development, and a highly disorganized EEG pattern known as hypsarrhythmia.

Dravet Syndrome

A severe, drug-resistant epilepsy starting in the first year of life, often triggered by fever/vaccinations and caused by an $SCN1A$ sodium channel mutation.

Psychogenic Non-Epileptic Attacks (PNEA)

Attacks that resemble seizures but have a psychological origin rather than electrical discharges in the brain; the EEG remains normal during attacks.