COMBANK Peds COMAT Flashcards
Glutathione synthetase deficiency presentation
severe metabolic acidosis in the first few days of life, as well as jaundice and mild to moderate hemolytic anemia secondary to glutathione deficiency
metabolic changes in glutathione synthetase deficiency vs PKU
both can be acidotic:
- G has severe metabolic acidosis in first few days of life
- P has lactic acidosis when untreated, usually later in infancy
Glycogen storage diseases: common findings
hepatomegaly and hypoglycemia
Hartnup disorder: presentation
Most children with the disorder remain asymptomatic; however the major clinical manifestation in the rare symptomatic patient is cutaneous photosensitivity.
histidine decarboxylase deficiency sx
has been associated with development of familial type Tourette’s syndrome.
homocystinuria: cause
deficiency of the enzyme cystathionine beta-synthase (usually remethylates homocysteine to methionine)
homocystinuria: presentation
- normal at birth
- clinical manifestations during infancy include failure to thrive and developmental delay
- pts at risk of ocular lens subluxation, skeletal abnormalities and thromboembolic episodes.
hyperprolinemia: cause
rare autosomal recessive disease caused by a deficiency of proline oxidase
hyperprolinemia: presentation
variable but often includes seizures and psychomotor retardation.
Schizophrenia is also a common clinical finding in these patients.
phenylketonuria: cause
Deficiency of phenylalanine hydroxylase or its co-factor tetrahydrobiopterin can cause accumulation of phenylalanine in body fluids and the brain
phenylketonuria: presentation
- typically normal at birth
- profound mental retardation develops gradually if left untreated.
- unpleasant urine odor (mousey or musty)
- can develop lactic acidosis if untreated
phenylketonuria: presentation
- typically normal at birth
- profound mental retardation develops gradually if left untreated.
- unpleasant urine odor (mousey or musty)
- musky odor
- fair skin
- can develop lactic acidosis if untreated
phenylketonuria: tx
- mainstay = dietary phenylalanine restriction.
- need tyrosine supplementation (prevent mental retardation)
pertussis tx
azithromycin five days (500 mg day one, followed by 250 mg days two through five) or clarithromycin (500 mg twice daily for seven days).
pertussis immunity
- vaccination available but not given in all countries
- exposure does not give long-term immunity
Alport syndrome
- hereditary glomerulonephritis
- associated with deafness and vision problems.
Bartter syndrome
hypokalemia and metabolic alkalosis due to a primary defect in sodium chloride reabsorption in the medullary thick ascending limb of the loop of Henle
(notably have low to normal blood pressure even with metabolic changes)
Gitelman syndrome
hypokalemia, metabolic alkalosis, hypomagnesemia,
hypocalciuria, and normal blood pressure
Liddle syndrome
HTN in young pts with hypokalemic metabolic alkalosis
- hypertension, hypokalemia, hypernatremia, and metabolic alkalosis with low aldosterone
gitelman syndrome vs bartter syndrome vs Liddle syndrome
- all have hypoK and met. alk.
- – G also has hypoMg and hypoCa
- – L also has hyperNa
- Age
- – B&L dx early childhood
- – G diagnosed in late childhood or adulthood
- BP
- – B&G low to normal BP
- – L HTN
fair skin, eczema, and intellectual disability
phenylketonuria
spermatocele
- retention cyst of the epididymis which contains spermatozoa
- presents as a cystic, mobile, smooth nodule superior and posterior to the testis
dx of Sporothrix schenckii
culture on Sabouraud’s dextrose agar
dx of Bartonella henselae
Warthin-Starry stain
tetralogy of fallot associated with which genetic dz
DiGeorge Syndrome (22q11.2 deletion syndrome)
Tetralogy of fallot defects
ventricular septal defect (usually muscular in nature),
overriding aorta,
pulmonary valve stenosis,
and right ventricular hypertrophy
tet spells and their tx
- irritability, tachypnea, cyanosis, and hypoxemia
- tx by increasing SVR (squat) or admin phenylephrine
heart defect associated with trisomy 21
The most common types, seen in 40-50%, are atrioventricular (AV) septal defects (also known as endocardial cushion defects). This group of congenital cardiac defects involves the AV septum and AV valves (i.e., mitral and tricuspid valves) and often present with a systolic ejection murmur heard best at the left upper sternal border. (includes common AV canal and anterior mitral valve leaflet)
- also see: ostium priumum (ASD)
Coarctation of the aorta is commonly associated with
bicuspid aortic valve, a persistent ductus arteriosus, and/or a ventricular septal defect.
s/sx of down syndrome
physical exam findings (flat facial profile, slanted palpebral fissures, transverse palmar crease, and hypotonia) and symptoms (poor feeding, sweating, and pallor)
Turner syndrome s/sx
- short stature, webbed neck, and shield-like chest.
- Internal malformations include congenital heart defects (seen in 45%, most commonly coarctation of the aorta) and renal anomalies (seen in 50%, most commonly horseshoe kidney).
congenital adrenal hyperplasia (CAH): cause
deficiency of the 21-hydroxylase enzyme resulting in a deficiency of aldosterone and an excess in adrenal androgens
congenital adrenal hyperplasia (CAH): s/sx
- hypovolemia, hyperkalemia, and hyperreninemia
- ambiguous genitalia in female infants
Cushing’s Triad
- Inappropriate slowing of heart rate, a rising blood pressure, and irregular respirations
- signs of cerebral edema and increased intracranial pressure
most common congenital heart condition
Perimembranous VSDs
PDA murmur
continuous machine-like murmur at the upper left sternal border
Ebstein’s anomaly
affects the tricuspid valve and right ventricle and can result in a hypoplastic right ventricle, enlarged right atrium (atrialized R ventricle), and a redundant anterior tricuspid valve leaflet. Most patients also have an atrial septal defect.
tanner stage staging
…
McCune-Albright syndrome s/sx
fibrous dysplasia of bone, café-au-lait skin spots, and precocious puberty
Proteus syndrome s/sx
- aka Wiedemann syndrome
- connective tissue and epidermis nevi, disproportional overgrowth of limbs, digits, cranium, vertebrae, external auditory meatus, spleen, or thymus, bilateral ovarian cystadenomas or a parotid monomorphic adenoma, lipomas, capillary, venous, or lymphatic malformation, and abnormal facies (long face, down-slanting palpebrae, ptosis, depressed nasal bridge, anteverted nares).
Tuberous sclerosis s/sx
convulsive seizures, “ash-leaf” hypopigmented lesions, and mental retardation. Patients are at increased risk for cardiac rhabdomyomas and benign tumors involving the face, eyes, brain and kidney
- can lead to precocious puberty (due to mass effect)
Neurofibromatosis type 1 s/sx
- multiple café au lait spots, neurofibromas, freckling of the axilla and groin, optic gliomas, lisch nodules (iris hamartomas), and bone abnormalities (scoliosis)
- can have precocious puberty (due to mass effect)
Diagnostic criteria for the diagnosis of Kawasaki disease (acute phase)
high fever for ≥ 5 days with at least four of the following:
- Bilateral nonsuppurative conjunctivitis
- Changes of the upper respiratory tract mucosa including pharyngeal erythema, dry fissured lips, and “strawberry” tongue
- Changes of the extremities including peripheral (palms and soles) erythema or edema, periungual desquamation, generalized desquamation
- Morbilliform rash, primarily truncal
- Painful, unilateral cervical lymphadenopathy with node >1.5 cm
Kawasaki syndrome
acute, multi-systemic vasculitis the occurs in children < 5 years of age
metabolic/electrolyte abnormalities most frequently observed in Infants of diabetic mothers
hypoglycemia, hypocalcemia,, and hypomagnesemia.
neonatal withdrawal from ALCOHOL s/sx
Symptoms usually develop within the first 2 hours and include irritability, tremors, seizures, opisthotonus, and abdominal distention
appearance of fetal alcohol syndrome
epicanthal folds, low nasal bridge, thin upper lip, indistinct philtrum
Cocaine use during pregnancy is associated with
preterm labor, abruption placentae, neonatal irritability, and decreased attentiveness
neonatal withdrawal from NICOTINE s/sx
increased excitability and hypertonicity
Child Nicotine exposure during pregnancy is associated with
intrauterine growth restriction (IUGR) and long-term metabolic, reproductive, and cardiovascular complications
What is Neonatal abstinence syndrome (NAS)
signs and symptoms seen in infants who undergo withdrawal after being chronically exposed to a substance (most commonly opiates) during fetal life
When do you see Neonatal abstinence syndrome (NAS)
usually begins at 1 to 5 days of life with maternal heroin use and at 1 to 4 weeks with maternal methadone use
s/sx of Neonatal abstinence syndrome (NAS)
poor feeding, diarrhea, restlessness, and a high-pitched cry.
Von Gierke disease associations
(GSD Ia) is associated with hypoglycemia, hyperuricemia, elevated lactic acid and hypertriglyceridemia, with characteristic doll-like facial features and hypotonia
Pompe disease associations
GSD II
- acid maltase deficiency
- HCM and macroglossia
Anderson disease associations
GSD IV
- glycogen branching enzyme deficiency
- presents in infancy with hepatomegaly and failure to thrive;
- however, hypoglycemia does not present until late in the disease when liver failure is present
characteristic feature of galactosemias
elevated direct bilirubin
in which metabolic diseases do you see elevated creatine kinase levels?
glycogen storage disorders such as Cori disease (GSD III) and McArdle disease (GSD V)
(not seen in Von Gierke (GSD Ia))
acid-base disturbance in neonatal RDS
mixed metabolic acidosis and respiratory acidosis
Hirschsprung’s disease presentation
- within first 24h of life
- failure to pass meconium
Hirschsprung’s disease dx
rectal biopsy showing absence of ganglion cells
when is positive pressure ventilation indicated for newborn
if the infant has continued apnea, cyanosis, bradycardia (pulse < 100/min), and poor muscle tone during the first minute of life, then positive pressure ventilation with room air in a full-term newborn should be initiated.
— pulse ox placed to titrate air/O2 mix until SpO2 > 90%
- before 1min, try vigorous stimulation, etc.
maple syrup urine disorder sx
neurologic symptoms, ketoacidosis, lethargy, vomiting and sweet-smelling urine.
maple syrup urine disorder dx
Branched chain amino acids are elevated (valine, leucine, isoleucine)
cause of gastroschisis
involution of the second umbilical vein secondary to a vascular accident in the embryonic abdominal wall. See defect to the R of the umbilicus.
gastroschisis vs omphalocele locations
gastroschisis is to the R of umbilicus,
Omphalocele is through the umbilical ring
lead poisoning sx
asymptomatic or:
altered mental status, seizures, motor weakness, abdominal pain, vomiting, constipation, headaches, ataxia, somnolence and weakness secondary to hemolytic anemia
cause of Meckel’s diverticulum
remnant of the embryonic yolk sac known as the vitelline duct that forms an outpouching at the level of the ileum
Meckel’s diverticulum presentation
presents within the first 2 years of life with painless rectal bleeding due to ulceration of ectopic gastric tissue present within the diverticulum
vitamin D deficiency sx
- Rickets
- failure to thrive, scoliosis, valgus or varus deformities, wrist and ankle enlargement, and Harrison’s groove. (horizontal groove along the lower border of the thorax corresponding to the costal insertion of the diaphragm)
Iron deficiency s/sx
microcytic anemia it causes: weakness, headache, irritability, and varying degrees of fatigue and exercise intolerance.
Other symptoms may include pica, restless leg syndrome, Plummer-Vinson or Patterson-Kelly syndrome (dysphagia, esophageal web, and atrophic glossitis with iron deficiency anemia), koilonychia (spoon nails), chlorosis, and blue sclerae.
vitamin B12 deficiency s/sx
macrocytic anemia with hypersegmented neutrophils, pancytopenia, dementia, paresthesias, ataxia, and weakness
vitamin B6 deficiency s/sx
Symptoms are often nonspecific and may include stomatitis, glossitis, cheilosis, irritability, confusion, and depression.
vitamin C deficiency s/sx
- scurvy
- impaired collagen synthesis with disordered connective tissue.
Symptoms include ecchymoses, bleeding gums, petechiae, coiled hairs, hyperkeratosis.
Erythema toxicum neonatorum: presentation
- benign newborn skin rash (by 48hrs of life), which presents as small papular or pustular lesions with surrounding erythema
- skin bx contains eosinophils
Transient pustular melanosis: presentation
small pustules present at birth which are not erythematous.
- typically progress to be erythematous macules and then hyperpigmented macules which can last for weeks to months
- rash presents with lesions in different stages
Sebaceous hyperplasia: presentation and cause
- benign newborn skin eruption which presents with profuse, small, yellow-white papules usually found on the nose, forehead, lips and cheeks of full term infants
- caused by hyperplastic sebaceous glands
Neonatal cephalic pustulosis: presentation
- aka neonatal acne
- benign papulopustular rash presents around three weeks of life, and is limited to the face, cheeks and scalp
Miliaria crystallina: presentation and cause
- skin eruption most often seen in infants which presents with clear, pinpoint vesicles over large areas of body surface
- results from retention of sweat in occluded eccrine sweat ducts
nerves important in sucking for the newborn
glossopharyngeal and the hypoglossal
Wilson dz presentation
- presents with more hepatic than neurologic symptoms in younger patients when compared to patients that present in their third decade of life.
- neurologic and hepatic symptoms, Kayser-Fleischer rings
Wilson dz dx
- ceruloplasmin levels less than 20 mg/dL along with elevated urinary copper excretion
- dx confirmed by liver biopsy
hereditary hemochromatosis vs Wilson dz
HH (iron accumulation) present later in life and are not expected to have the neurologic findings seen in Wilson dz
what does EDTA treat?
lead poisoning
what does dimercaprol treat?
arsenic, mercury, lead poisoning
X-linked agammaglobulinemia: cause and presentation
- deficiency of humoral immunity caused by a mutation resulting in abnormal tyrosine kinase
- infections with encapsulated organisms
chronic granulomatous disease: cause and presentation
- Deficiency of NADPH oxidase
- infections with catalase positive organisms
Chediak-Higashi syndrome: cause and presentation
- Microtubular dysfunction
- ocular albinism and neutropenia.
defective IL-2 receptor causes…
SCID
most common form of nephrotic syndrome in kids
minimal change disease
minimal change disease sx and tx
- low serum albumin and high 24-hour urine protein with oval fat bodies (nephrotic syndrome), hypercholesterolemia, and edema
- tx corticosteroids
CSF findings for viral meningitis
normal glucose, mild elevation in protein, and increased mononuclear cells.
Seborrheic dermatitis: presentation
common skin eruption in children, especially infants, which presents as greasy, yellow scales in areas rich in sebaceous glands, including the scalp (known as “cradle cap”), intertriginous areas, forehead, nasolabial folds, external ear and diaper area
Erysipelas: presentation
bacterial infection of the skin which presents with erythema, edema and warmth. typically involves the upper dermis layer and superficial lymphatics
(vs cellulitis which is lower)
sx of clavicle fx during delivery
absent Moro reflex on the affected side and spasm of the ipsilateral SCM muscle
Erb-Duchenne paralysis
- Injury to the fifth and sixth cervical nerve
- infant is unable to abduct the arm from the shoulder, rotate the arm externally, and supinate the forearm. Therefore, the arm will remain adducted and internally rotated at the child’s side with the palm pronated
Klumpke’s paralysis
- Injury to the seventh and eighth cervical nerve and first thoracic nerve
- ipsilateral paralyzed hand with impaired wrist and finger flexion
timing of neonatal hypoglycemia due to diabetic mother
usually manifests 1 to 2 hours after birth or 12 to 24 hours after poor enteral intake.
Signs and symptoms include hypotonia, jitteriness, lethargy, poor feeding, and seizures.
Posterior urethral valves
- cause congenital bladder outlet obstruction
- due to abnormal integration of Wolffian duct into posterior urethra
- usually dx before birth on prenatal US
- in males
DTaP contraindication
personal history of severe allergic reaction to the vaccine or encephalopathy within 7 days of previous vaccination.
When is DTaP given?
2 months, 4 months , 6 months , 15-18 months, and 4-6 years. Patients should then receive a dose of Tdap at 11-12 years old and a tetanus and diphtheria (Td) booster every 10 years
Epiglottitis presentation
acute onset high-grade fever, inspiratory stridor, dysphagia, drooling, and respiratory distress
epiglottitis dx
- intubate based on clinical signs alone
- Lateral radiographs show a classic “thumbprint sign” due to swelling of supraglottic structures
when to use which car seat:
- rear facing car seat: Newborns, infants and toddlers up to age 2
- forward facing car seat: Once the child outgrows the height and weight limits of the rear facing car seat (usually around 2 years old)
- booster seat: when child has outgrown highest weight and height recc for forward facing car seat (usually 4’9”, age 8-12)
- seat belt alone: when fits properly (age 8-12)
APGAR
Appearance Pulse Grimace Activity Respiration
scarlatina rash
- assoc w/ GAS
- diffuse, erythematous, blanching eruption with a rough, sandpaper-like texture
Hydranencephaly
congenital defect of the brain characterized by fluid-filled cavities replacing the cerebral hemispheres
- – macrocephaly
- – transiluminates
Schizencephaly
congenital anomaly of the brain characterized by one or more fluid-filled clefts in the cerebral hemispheres that communicate with the lateral ventricle, and may be unilateral or bilateral
- microcephaly, no transillumination
Lissencephaly
- aka agyria or smooth brain
- is a congenital anomaly of the brain characterized by lack of development of gyri or sulci.
Dandy-Walker malformation
enlargement of the fourth ventricle, partial or complete absence of the cerebellar vermis, and cyst formation near the internal base of the skull
When do you see Serum sickness-like reaction (SSLR)
may develop following infections, vaccine administration and in response to a variety of medications
— most common causative medications include penicillin, amoxicillin, cefaclor and trimethoprim-sulfamethoxazole
Phencyclidine intoxication
- Vertical and horizontal nystagmus is pathognomonic
- altered mental status with acute psychosis
- – delusion of strength and invulnerability
Psilocybin intoxication
- psychedelic agent from mushrooms
- euphoria, distortion of time perception, and increased intensity of emotions
- pupillary dilation
LSD intoxication
- increased color perception, body image distortion and impaired depth, time and space perceptions.
- tachyC, HTN, diphoresis, psychomotor agitation
- pupillary dilation
salter-harris fracture classification
…
ADHD diagnostic forms
Conners Questionnaires
Vanderbilt forms
tx for acute viral bronchiolitis
supportive care (respiratory support, nasal suction)
- no bronchodilators
- racemic epi in moderate to severe croup
Increased risk for Salmonella if …
- domestic animals including cats, dogs, reptiles, amphibians
- immunosuppressed
Tx for Salmonella gastroenteritis (who and with what)
- healthy kids: supportive care
- high-risk groups: antimicrobial tx with 3rd-gen cephalosporin (cefotaxime, ceftriaxone, cefixime) or ampicillin
- – high risk = immune suppression (malignancies, immunosuppressive tx, sickle cell anemia, immunodeficiency states, and HIV)
Wilms tumor: presentation
most common renal neoplasm of childhood
- asymptomatic abd mass in 2-5yo
HSP vasculitis: cause
IgA and C3 deposition in the small vessels
HSP vasculitis: sx
palpable purpura, abdominal pain, joint pain, renal involvement
when to think innocent murmur
- commonly present in young children and early adolescence
- otherwise healthy kid with soft, early systolic or continuous murmur that can be altered with changes in position
- ex/ Still’s murmur, venous hum
tx for nursmaid’s elbow
full flexion of the elbow with supination of the forearm
Gullner syndrome
familial hypokalemic alkalosis due to a proximal tubule defect, which results in hypouricemia
G6PD deficiency hemolytic anemia triggers
fava beans, infections, certain drugs (antimalarials, sulfonamides, etc)
G6PD deficiency hemolytic anemia sx
malaise, weakness, abdominal and/or back pain followed by jaundice and dark urine several hours to days later
– may have gallstones due to excess bilirubin
head bumps at birth that cross suture lines
caput succedaneum
subgaleal hemorrhage
head bumps at birth that DO NOT cross suture lines
cephalohematoma
Marfan syndrome cause
defect in fibrillin
Marfan syndrome sx
tall stature, arachnodactyly, ligamentous laxity, myopia, scoliosis, pectus excavatum and ascending aortic aneurysms
Osteogenesis imperfecta cause
mutation of type I collagen
Ehlers-Danlos syndrome cuase
defect in type III collagen
autisim screening tool
M-CHAT
developmental screening tests
- Denver Developmental Screening Test-II
- ASQ (not ASQ:SE)
social/emotional problems screening
Ages and Stages Questionnaires: Social Emotional (ASQ:SE)
Beckwith-Wiedemann syndrome
overgrowth (LGA), macroglossia, anterior abdominal wall defects, hepatomegaly, and pitting of the external ears
— older: mental retardation, embryonal tumors
Torsion of this testicular appendage: presentation
- gradual onset of pain and swelling of the scrotum.
- palpable, small, tender and indurated mass on the upper pole of one testis.
- may be visible through the scrotal skin with a bluish hue.
epididymitis
- ascending infection from the urethra into the epididymis and presents with scrotal pain, erythema and edema.
- Prior to puberty the infection is rare
electrolyte changes with pyloric stenosis
hypokalemic, hypochloremic metabolic alkalosis
Wegener granulomatosis: cause
pauci-immune vasculitis of the small and medium-sized blood vessels -> necrotizing granulomatous inflammation of the renal, upper respiratory, and lower respiratory systems
- c-ANCA
Wegener granulomatosis: sx
- disease of adults (35-55)
- chronic sinusitis, otitis media, or perforation of the nasal septum, along with lower respiratory tract complaints of cough or hemoptysis. Nasal or oral inflammation, painful oral ulcers, or purulent and bloody nasal discharge is common. It can result in a saddle nose deformity. Renal manifestations include hematuria
Sturge-Weber syndrome: cause
small vessel vasculitis that results in angiomas of the meninges and face
Sturge-Weber syndrome: sx
Cutaneous facial angiomas are referred to as a port-wine stain, and most commonly occur in the ophthalmic and maxillary distributions of the trigeminal nerve. Ipsilateral leptomeningeal angiomatosis, or intracerebral arteriovenous malformations, can also occur and result in seizures.
—- may initially present with seizures, focal deficits such as hemiparesis and hemianopsia, headaches, developmental delay, or mental retardation
Churg-Strauss syndrome: cause
- necrotizing leukocytoclastic small-vessel granulomatous vasculitis
- seen in adults
- p-ANCA
Churg-Strauss syndrome: sx
- adults
- fever, severe asthma, peripheral neuropathy, and cardiac or renal failure. Patients may also have sinusitis, hypertension, abdominal pain, and bloody diarrhea. Peripheral neuropathy most commonly presents as a wrist or foot drop
stopped after test 4
..
