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))