Prep 2018 Flashcards
At what age do you have to address persistent thumb sucking?
4yo
Difference between tics and motor stereotypies?
<3yo = Motor stereotypies
5- 6yo = tics begin
What is MELAS?
Mitochondrial Encephalomyopathy, Lactic Acidosis, +Stroke-like episodes (MELAS) = Causes of metabolic stroke
In MELAS, the area of acute ischemia is in a nonvascular distribution, typically in the posterior parietal and occipital lobes.
Signs of atlantoaxial (C1 on C2 increased mobility) instability? patient population?
- Trisomy 21 (low tone @ baseline)
- Can be asymptomatic
- risk of spinal cord compression – increased tone or spasticity in the limbs, hyperreflexia, bowel or bladder incontinence, torticollis, or neck pain
What is benign rolandic epilepsy (BRE)? Describe age group, seizures, and treatment
AKA childhood epilepsy with centrotemporal (perirolandic) spikes. In this epileptic syndrome, anticonvulsants may not be needed at all, and certainly not for life.
- Start ages 5-10, resolve spontaneously by 16-18
- the typical seizure is focal with rhythmic twitching of one side of the face and the ipsilateral arm, with prominent drooling. The child often cannot speak or has repetitive chewing or swallowing during the seizure.
Long term neuro complications of bacteria meningitis?
intellectual disability, hearing impairment, epilepsy, spasticity, and hemiparesis.
Which bacteria are most associated with brain abscesses in patients with meningitis? (Neonates)
- Citrobacter species including C koseri, Serratia marcescens, Proteus mirabilis, and Cronobacter sakazakii
How does tick paralysis present? (time frame, sx, tick)
- Sx 4-7 days after tick starts feeding
- Early – restlessness or lethargy
- Later – ASCENDING paralysis (like GBS but unlike botulism which is descending), can rapidly progress to involve respiratory + bulbar muscles
- Tx – REMOVE TICK – improvement of sx within hours
- Common tick - rocky mountain wood tick ( Dermacentor andersoni)
How can a focal seizure present? What is the other name for focal seizure?
- AKA complex partial seizures, can have various clinical presentations,
- hemifacial twitching (usually involving the eye, cheek, and sometimes mouth)
- focal limb jerking
- automatisms such as purposeless, repetitive hand movements; activities such as nose wiping, fumbling with clothes, or arranging small items; or uttering repetitive stereotyped phrases
- duration 2-30 min
Chorea
- Describe it
- Causes
- involuntary, quick, jerky movement that can involve any part of the body, including the fingers, limbs, trunk, face, or tongue.
- MC in US is Sydenham chorea
- can be transiently suppressed
- Other causes:
- basal ganglia brain injury 2/2 SLE or small vessel vasculitis
- Meds: phenytoin
- Thyrotoxicosis
- Chorea gravidarum occurs during pregnancy and resolves afterwards
How do you treat facial angiofibromas in tuberous sclerosis
- topical sirolimus
of note… oral rapamycin inhibitors (sirolimus, everolimus) are often used in the treatment of TSC-related complications such as subependymal giant cell astrocytomas, pulmonary involvement, renal angiomyolipomas, lymphangioleiomyomatosis, and symptomatic cardiac rhabdomyomas.
Which 2 meds are FDA approved for adolescent depression? how long to treat for?
- fluoxetine and escitalopram
- 6-12 months after resolution of symptoms
Glycogen storage disease type 1
- presentation
- exam
- labs
- Tx
- hepatomegaly, renomegaly, and recurrent episodes of hypoglycemia
- classic appearance of doll-like facies with chubby cheeks, thin extremities, distended abdomen, and short stature
- Labs: hypoglycemia, lactic acidosis, hyperlipidemia, hypertriglyceridemia, and hyperuricemia
- nutritional therapy to avoid episodes of hypoglycemia; allopurinol; statins; citrate supplementation; ACEi; treatment for hepatic adenomas; human granulocyte colony-stimulating factor for recurrent infections; and a diet low in sucrose and fructose. Transplant of the liver, kidneys, or both may be necessary.
MCC of epididymitis in prepubertal boys
post viral
RBC life span in hereditary spherocytosis?
10-30 days
compared to 120 days normally
What are the 2 most common autoimmune diseases associated with T1DM?
celiac disease
autoimmune thyroid disease
Most common inherited form of intellectual disability
Fragile X – tinucleotide repeat of >200 CGG in FMR1 gene
- males 1 in 4,000 - behavioral issues too (autistic)
- females 1 in 8,000 – mild intellectual disability
What age does R/L handedness develop? What if it is seen earlier?
- 4-6 yrs of age (can start to see 1-3yo)
- If <18mo may indicate a central or peripheral neurologic abnormality of the opposite side, including hemiparesis.
Infective Endocarditis bugs
MC:
- Viridans streptococci - usu assoc w/ abnormal cardiac valves (congenital heart disease, rheumatic heart disease, postoperative changes)
- Staphylococcus aureus - usu in structurally normal heart.
Gram neg organisms (less likely) “AACEK” (Aggregatibacter parainfluenzae, Aggregatibacter actinomycetemcomitans, Cardiobacterium hominis, Eikenella corrodens, and Kingella species)
Approximately 5% to 10% of IE is culture negative.
S&S of Vitamin E deficiency
hyporeflexia, ataxia, decreased vibratory sensation and proprioception, muscle weakness, and limitation of eye movement.
Congenital Neutropenia Syndromes
- Barth syndrome: cardiomyopathy and proximal skeletal myopathy
- Cartilage-hair hypoplasia: short-limbed dwarfism, fine hair, and impaired immunity
- Chédiak-Higashi syndrome: varying degrees of oculocutaneous albinism
- Dyskeratosis congenita: abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa
- Fanconi anemia: many possible congenital abnormalities with highly variable severity
- Shwachman-Diamond syndrome (SDS): failure to thrive, exocrine pancreatic dysfunction, and skeletal abnormalities
- Severe congenital neutropenia: Neutropenia is often the only presenting sign. Severe congenital neutropenia is diagnosed by genetic testing of ELANE (the neutrophil elastase gene) on 19p13.3 or HAX1 on 1q21.3
how to test for and treat pertussis
- PCR nasopharyngeal swab- efficacy of testing is highest in the first 2 weeks of illness
- Azithromycin
- Post exposure prophylaxis - Azithro x 5 days
What tests should you get on immigrant children with eosinophilia
- Absolute Eos >450 cells/μL) + negative stool O&P:
(1) Strongyloides species serologic testing
(2) Schistosoma species serologic testing for children from sub-Saharan African, Southeast Asian, and certain Latin American countries
(3) Lymphatic filariasis serologic testing for children older than 2 years from countries with endemic infection
Sequence and timing of puberty
thelarche>pubarche>peak height velocity>menarche
- Girls onset ~9.5yo, menarche ~12.5yo
- – delayed no breast development by 14yo or no menarche despite breast development at 16yo
Langerhans Histiocytosis
- age groups
- manifestations
- ages 1 - 15 yo (**think when have persistent diaper rash despite all topical treatments)
- can be one site/organ or multiple
- MC organs - BONES and SKIN
- Bone: osteolytic, painful bony lesions and eruptions on the scalp
- Systemic: persistent fevers, weight loss, lethargy, pancytopenia
- Multifocal: can involve the pituitary stalk and leads to diabetes insipidus
- BRAF mutations suggest clonal malignancy
- need biopsy and full workup (bone scan, MRI pituitary, bone marrow if cyptopenic)
most specific test for coccidiomycosis
Immunodiffusion and complement fixation studies from serum
At what age does regurgitation resolve?
12 months (95% resolve)
What is stickler syndrome?
Group of genetic conditions characterized by the Pierre Robin sequence (cleft palate, glossoptosis, and micrognathia or retrognathia) and severe myopia or other ocular abnormalities
Which antibodies are seen in Graves Disease?
90% - thyroid-stimulating immunoglobulin (TSI)
10% - Thyroid peroxidase antibodies (TPO) - also present in autoimmune thyroiditis
Syphillis
- What test is for definitive diagnosis
- Difference between treponemal and nontreponemal tests
(1) Dark field microscopy showing Treponema pallidum spirochetes
(2) Treponemal (RPR, VDRL) can be false positive (HIV, autoimmune, pregnancy, IVDA), therefore have to confirm with non-treponemal (FTA-ABS or TP-AB)
Side effects of beta blockers (propranolol) in peds
bradycardia, hypotension
* hypoglycemia, hypoglycemia-induced seizures, bronchospasm, and hyperkalemia.
When should you place cochlear implants? what population?
(1) Infants by 12mo of age
(2) bilateral severe to profound sensorineural hearing loss
Causes of Malignant hyperthermia
Treatment
- MH is usu 2/2 AD inherited mutation in ryanodine receptor - regulates myocyte cytosolic calcium.
- Triggers: inhaled anesthetics (halothane, isoflurane, and desflurane) and neuromuscular blockade (succinylcholine)*
- Tx - Dantrolene (ryanodine receptor antagonist)
For NRP, whats the max pressure for PPV?
40mm H2O
What is Hurler’s Syndrome?
- Mucopolysaccharidosis type I (MPS-I). AR. Progressive multisystem neurodegenerative disorder.
- Infants initially normal at birth then develop coarsening of the facial features after 1 yr of age as well as – severe cognitive decline, macrocephaly, gibbus deformity of lumbar spine, progressive skeletal dysphagia, short stature, hearing loss, frequent URI, umbilical/inguinal hernias, HSM, corneal clouding
What is Hunter’s syndrome?
- Mucopolysaccharidosis type II (MPSII). X-linked (males).
- Similar to MPS I but without corneal clouding.
How do you calculate GFR? What are CKD stages?
GFR = 0.413 × height (in centimeters) ÷ serum creatinine level (enzymatic method)
Stage G1: Normal GFR (≥ 90 mL/min/1.73 m2)
Stage G2: GFR between 60 and 89 mL/min/1.73 m2
Stage G3a: GFR between 45 and 59 mL/min/1.73 m2
Stage G3b: GFR between 30 and 44 mL/min/1.73 m2
Stage G4: GFR between 15 and 29 mL/min/1.73 m2
Stage G5: GFR less than 15 mL/min/1.73 m2
