Neonatal Flashcards
Neonatal polycythemia definitions and presentation
hyper viscosity syndrome: jitteriness that progresses to seizure activity from thrombus formation in cerebral microcirculation
Choanal Atresia
diagnosis method?
upper airway obstruction where cyanosis worsens with feeding but improves with crying
- shove catheter up nose to pharynx and failure means positive test
galactosemia
GALT deficiency where you cannot take products with lactose or galactose
= avoid breastmilk
galactosemia sx
failure to thrive, feeding problems, diarrhea,
increased risk of e.coli sepsis
developmental delay
cataracts
glycogen storage disease type I
- VonGierke’s caused by?
symptoms, treatment?
G6PD deficiency
- can’t process glycogen so it accumulates
Features: hypoglycemia, lactic acidosis, hepatomegaly, hyperuricemia, hyperlipidemia, short stature, cherubic face
may develop hepatocellular carcinoma
tx: frequent feedings with complex carbs and cornstarch
Glycogen storage type 2
- Pompe Disease
alpha-glucosidase deficiency: enzyme performs glycogenolysis
-presents in first 2 months
-myopathy=> hypotonia => respiratory insufficiency, early death, FTT (elevated CK)
-cardiomegaly ( hypertrophic cardiomyopathy), conduction blocks, wide QRS
- macroglossia, hepatomegaly, intracranial aneurysm
tx: supportive care and enzyme replacement
Pompe Punishes PumP liver and muscle
Hereditary fructose intolerance
aldolase B-deficiency
diarrhea, bloating, and pain, whir they eat fructose or sucrose
avoid fructose
this patient most likely has
downs syndrome
congenital diaphragm hernia
impaired development causes displacement of abdominal contents into pleural cavity
- liver protectis R hemidiaphragm so most occur on the left side@
Features: scaphoid abdomen, respiratory distress, bowl sounds in chest
Peronie disease
penile curvature seen after trauma
hypospadias is chracterized by
incompletely formed foreskin and
chordee (ventral curvature of penis)
hydrocele
accumulation of fluid surround testicle
congenital hypothyroidism signs and symptoms
large fontanelle/delayed closure
umbilical hernia, distended abdomen, prolonged jaundice (“ > 7 days)
constipation, decreased activity
hair loss, cold intolerance, hoarse cry, goiter
brachial plexus injury can be accompanied by
ipsilateral phrenic nerve paralysis - shows as labored breathing nf seesaw movement of diaphragm during respiration
potter sequence
pulmonary hypoplasia due to oligohyramnios, wide spaced eyes, low set ears, broad nose, receiving chin, limb abnormalities
waardenberg syndrome
autosomal dominant
- lateral displacement of medial acanthi, broad nasal bridge, medial hyperplasia, partial albinism ( white forelock or heterchromia), deafness
Wilms Tumor
renal malginanacy characterized by WAGR
Wilms Tumor, Aniridia, Genoitourinary anomalies, Range if intellectual disability
SSTURGGE Weber
Sporadic, port-wine Stains Tram-Track calcifications, Unilateral, REcurrecent strokes, or seizures, Glaucoma, GNAQ gene, Epilepsy
Herald patch, followed by diffuse rash of upper trunk and extremities 5-10 days later
- lesion: oval round, slightly raised, pink and covered in a scale
What is this?
pityriasis rosea
IgA vasculitis
deposition of IgA immune complexes in vascular walls
occurs 1-3 weeks after an infection ie URI
characterized by PAPAH
Puprura,
Abdominal Pain (colicky)
Arthritis/arthralgia
Hematuria
platelet levels are normal or elevated
encopresis
inappropriate passage of stool due to chronic constipation and overflow incotinence o without constipation
bronchopulmonary dysplasia
neonate who needs O2 age 28 days or older
what happens:
- reduced number and separation of alveoli
-disrupted vasculogenesis
treatment for congenital long qt syndrome
beta blocker : propranolol and nadolol
in kids this is a sign of
child abuse
what is this and how should it be treated?
neonatal cephalic pustulosis (neonatal acne)
- soap and water, if it doesn’t work topical steroids/ ketoconazole
