PREP Flashcards
(142 cards)
Adolescent with imbalance, tinnitus, hearing loss
Vestibular schwannoma, NF2 (autosomal dominant)
meningiomas, ependymomas, astrocytomas, schwannomas of other cranial and peripheral nerves, mononeuropathy, and posterior subcapsular lens opacities
NF2
Posterior subcapsular lens opacity
a unique ocular finding that can be the first sign of neurofibromatosis type 2 in childhood
male taller than normal stature, speech and language delay, cystic acne in adolescence, lack of facial dysmorphology, and learning disabilities but normal intelligence
47,XYY syndrome
female tall stature, learning disabilities, and speech/language delay, but typically have normal intelligence, sexual development, and fertility
47,XXX syndrome, also known as triple X syndrome
congenital heart disease, palatal abnormalities, characteristic facial dysmorphology, learning difficulties, renal anomalies, and immune deficiency. hypocalcemia in 17% to 60% of patients and thyroid dysfunction
22q11.2 deletion syndrome, also known as velocardiofacial syndrome or DiGeorge syndrome
coloboma, heart defects, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies
CHARGE syndrome
Huntington disease, fragile X syndrome, and myotonic dystrophy
Types of trinucleotide repeat disorders
Neurofibromatosis type 2, neurofibromatosis type 1, and tuberous sclerosis, what inheritance type?
neurocutaneous disorders with autosomal dominant inheritance
microcephaly, microphthalmia, low-set ears, cleft lip and/or palate, holoprosencephaly, cutis aplasia, polydactyly, clenched hands, rocker bottom feet, cryptorchidism, renal anomalies, and cardiac malformations
Trisomy 13
Young male children who have a history of nontraumatic severe bleeding should be evaluated for
factor VIII and IX deficiencies
girl in this vignette has an unremarkable medical and developmental history, pallor and tachycardia, a severe, normocytic anemia, absolute reticulocytopenia, and a normal white blood cell count, differential, and platelet count
Transient erythroblastopenia of childhood is an idiopathic, self-limiting disease that should be followed by serial complete blood cell counts and reticulocyte counts
neonate with absent radius
may need platelet transfusions, Thrombocytopenia with absent radius syndrome
Children with isolated fractures to the paranasal sinuses should be treated with
1-week course of antibiotics and oral analgesics. “Sinus precautions” should be implemented for patients with paranasal sinus fractures. These include avoidance of nose blowing, swimming, straw use, and playing wind instruments. follow up 1 week later with an otolaryngologist
Patients with persistent otorrhea and/or a white mass behind the tympanic membrane
referred to an otolaryngologist for further evaluation and management. Most cholesteatomas require surgical treatment.
severe sore throat (sometimes unilateral), fever, a muffled or “hot potato” voice, trismus, and odynophagia. They typically have a swollen tonsil or swelling of the adjacent soft palate as well as deviation of the uvula to the opposite side
Needle aspiration of a peritonsillar abscess is both diagnostic and therapeutic.
children with persistent purulent and/or foul-smelling nasal discharge (especially when unilateral) and malodorous breath. Tx?
Use of a topical vasoconstricting agent, such as neosynephrine or oxymetazoline, is generally recommended before any attempt is made to remove a nasal foreign body. These agents decrease localized swelling (which improves the chances of successful foreign body removal) and decrease bleeding.
ocular abnormalities (myopia, cataracts, and/or retinal detachment), midface abnormalities (flattened midface, depressed nasal bridge, short nose, anteverted nares, micrognathia, and cleft palate), hearing loss, and joint hypermobility
Stickler syndrome
12 yo healthy, first seizure, all labs (including UTox) nl, nl neuro exam, what order at PCP f/u? EEG, EKG, CT, MRI?
EEG next (background epilepsy but also if focal, then brain imaging). Only start with brain imaging if focal seizure or abnl neuro exam (likely CT first b/c acute)
6 mo, lethargic in am, hypoglycemia with ketones?
Glycogen storage disease (fatty acid oxidation disorder would have hypoglycemia without ketones. organic acid disorders are neonatal. mitochondrial is lactic acidosis and hypotonia, ragged red fibers on muscle biopsy)
Neonate IUGR and SGA, She has a small jaw, clenched hands with overlapping fingers, rocker-bottom feet, a short sternum, and hypoplastic nails. Echocardiography shows a ventricular septal defect. Renal ultrasonography shows a horseshoe kidney. Dx?
Trisomy 18 (Edward). IUGR, SGA, heart, kidney in neonates with trisomy 13 or trisomy 18. trisomy 13 also have a scalp defect called “cutis aplasia” and midline defects such as holoprosencephaly, cleft lip, cleft palate. Clenched hands with overlapping fingers and rocker-bottom feet can be seen in trisomy 13, but they are more common in trisomy 18. Trisomy 18 is characterized by distinctive dysmorphic features: clenched hands with overlapping fingers, rocker-bottom feet, and short sternum. Trisomy 13 is characterized by midline and scalp defects and rocker-bottom feet.
16 yo prev healthy F, 2 days fatigue, pallor, dyspnea. Hb 4, retic 13, nucleated RBCs present, LDH elevated, bili elevated, direct antibody test IgG positive. Spleen tip palpated. Tx? Methylprednisolone, normal saline, rasburicase, pRBCs?
Steroids. Acute hemolytic anemia. Her unremarkable personal medical history suggests that she does not have a heritable hemolytic disorder, and the positive direct antibody test finding for IgG is diagnostic of a warm antibody-mediated autoimmune hemolytic anemia (AIHA). Whereas AIHA can be associated with medications, the girl in the vignette has an unremarkable medical history, suggesting that she has idiopathic AIHA. (NS dilute further, rasburicase for TLS, RBCs only if end organ b/c will just hemolyze)
34 week, mom febrile, baby resp distress, streaky CXR, green amniotic fluid. What bug?
Listeria (GBS often reticulogranular CXR. green fluid classic listeria. Chlamydia later. E coli bloodstream sepsis).
testicular torsion based on history and physical. US or consult uro?
Consult Uro (emergency!)