GENERAL PEDIATRICS M Flashcards
(41 cards)
Signs and symptoms of cocaine use?
Euphoria Dilated pupils Increased motor activity Tachycardia Hyperthermia Hypertension May have nasal mucosal changes
Signs and symptoms of PCP (phencyclidine, aka “angel dust”, “wet”, “illy”) use?
Nystagmus Ataxia Hypersalivation Emotional lability Altered sensory perception and hallucinations about body image leading to panic and disorientation
What are the two most commonly used drugs in adolescents?
- Cigarettes
- Alcohol
Most common illicit drug: marijuana
What are clinical features of Trisomy 18 (ie. Edwards Syndrome)?
Rocker bottom feet Microcephaly Inguinal hernias Low set, small ears Congenital cardiac defects Clenched hands with overlapping digits Cleft lip and palate Micrognathia Shield chest Prominent occiput
What are clinical features of Trisomy 13 (ie. Patau Syndrome)?
SGA Cutis aplasia (skin missing from scalp) Microcephaly Polydactyly Clenched hands with overlapping digits Microophthalmia Omphalocele Holoprosencephaly Cleft lip and palate Congenital heart defects Rocker bottom feet
What is the most common inherited cause of mental disability?
Fragile X syndrome: 1 in 2000 live births
What screening bloodwork can be ordered in a child with FTT and normal vitals and physical examination?
- CBC - screen for anemia secondary to inadequate nutritional intake
- Urinalysis and urine culture - screen for renal tubular acidosis
- Serum electrolytes, BUN, Cr
- Gas - screen for renal tubular acidosis
Then tailor the rest of the investigations based on history and physical exam findings
What is the underlying cause of Fragile X?
Expansion of the familial mental retardation gene (FMR1) on the long arm of the X chromosome at q27.3
-once trinucleotide repeat > 200, get Fragile X!
What are clinical features of Fragile X syndrome?
Macrocephaly Macroorchidism after puberty High arched palate Large ears Can have autism!!! Joint laxity Dental crowding Mild to severe mental disability ADHD
What are babies on a goat’s milk diet susceptible to?
- Megaloblastic anemia (secondary to folate and vitamin B12 deficiency)
- Iron deficiency anemia
- Brucellosis
What are the clinical features of Kasabach-Merritt Syndrome?
- Large hemangioma (vascular tumor) anywhere in body
- Thrombocytopenia
- Consumptive coagulopathy
- Hemolytic anemia (secondary to microangiopathic destruction)
- Risk of bleeding
What are the two major differential diagnoses for cafe-au-lait spots?
- Neurofibromatosis type 1
2. McCune Albright syndrome
What are the clinical features of McCune-Albright Syndrome?
THINK BONE AND HYPER-ENDOCRINOPATHY!
- Polyostic fibrous dysplasia
- Cafe au lait with jagged edge “Coast of Maine” look
- Hyperthyroidism
- Precocious puberty
What are the main features of tinea capitis? (5)
- Scaly alopecia
- Blackdots hairs
- Posterior cervical adenopathy
- Most common cause: Trichophyton tonsurans
- Potassium hydroxide test often positive
What is the mode of inheritance of Marfan Syndrome?
Autosomal dominant
De novo mutation in 1/4 of Marfan’s Syndrome
What is the underlying defect in Marfan syndrome?
Defect in fibrillin protein
What type of growth pattern occurs in Marfan Syndrome? (4)
- Increased linear long bone growth
- Taller than predicted based on mid-parental height
- Increased growth velocity, occurs 2 years earlier than expected
- Decreased muscle mass (weight < 50th percentile)
Why is gross motor delay common in Marfan Syndrome patients?
Joint laxity
Which body systems are affected in Marfan Syndrome? (6)
- Ocular
- Cardiac
- Respiratory
- GI
- MSK
- Derm
**No neurological effects
What ocular issues occur in Marfan Syndrome?
- most common?
- 5 total
Most common: 1. myopia (progressive, early onset)
- Early cataracts
- Glaucoma
- Superior ectopia lantis (60% of cases): lens displacement up and out (tell-tale sign of Marfan’s)
- Retinal detachment
What face and mouth findings do you see in Marfan Syndrome?
Elongated and narrow face Micrognathia High arched palate Dental crowding Inophthalmos (deep set eyes and downward slanting) Malar hypoplasia
What are possible cardiac abnormalities in Marfan Syndrome? (3)
- leading cardiac cause of mortality and morbidity?
- precautions to be instituted?
- Progressive aortic root dilatation (usually after 18 years of age)
- Mitral valve prolapse (leading cause of mortality and morbidity)
- Aortic valve insufficiency
Precautions:
- no strenuous exercise since can lead to increased, irreversible aortic dilatation
- may need to be started on beta blocker to reduce cardiac output and decrease aortic dilatation
- ECHO at diagnosis and yearly afterwards
What respiratory complications can be seen in Marfan syndrome? (3)
- Spontaneous pneumothorax due to long thoracic cage
- cannot use blowing instruments, no scuba diving - OSA due to facial structure
- Pectus excavatum (reduced pulmonary reserve)
What gastrointestinal complication can be seen in Marfan Syndrome?
Increased risk for hernia
