Deck 1 Flashcards
1
Q
Stool findings in Celiac
A
Access fat in stool in the absence of pancreatic insufficiency (normal pancreatic elastase). NO inflammation (no WBCs in stool). Watery diarrhea, acidy stool (diaper rash)
2
Q
Shwachman Diamond syndrome
A
Bone marrow failure; Cytopenia
Malabsorption; Steatorrhea and growth failure
Skeletal abnormalities
3
Q
Pathogenesis of Celiac
A
Genetic susceptibility (HLA DQ-2 and DQ8) T Cell mediated inflammatory response in small bowel
4
Q
Diagnosis of Celiac
A
Definitive diagnosis with biopsy; villous atrophy and increased round cell infiltration
Labs: TTG and IgA
5
Q
Causes of villous atrophy seen on small bowel biopsy
A
Severe Crohn disease Cell mediated, congenital and acquired immune deficiencies Radiation enteritis Severe cow mill protein allergy Giardia
6
Q
IgA Nephropathy
A
Acute, painless hematuria with URI illness
Gross hematuria, proteinuria, hypertension and azotemia
NORMAL complement levels
10% of pts have risk of chronic renal disease (increased risk with persistent proteinuria)
Renal biopsy findings identical to Henoch-Schonlein purpura
7
Q
Alport Syndrome
A
Autosomal dominent
Hearing loss, Cataracts at learly age
Hematuria
Renal failure
8
Q
Henoch-Scholein purpura
A
Hematuria (can last for years)
Renal biopsy findings identical to IgA nephropathy
***
9
Q
Post streptococcal glomerulonephritis
A
Follows strep infection (throat or skin)
Hematuria, hypertension and edema
LOW level C3
10
Q
Glomerular causes of hematuria (secondary to systemic disease)
A
SLE
Henoch-Scholein purpura
HUS
Subacute bacterial endocarditis
11
Q
Glomerular causes of hematuria (primary renal)
A
Post-strep glomerulonephritis (LOW C3)
IgA nephropathy (NORMAL compliments)
Membranoproliferative glomerulonephritis
Alport
Thin basement membrane disease (benign familial)
12
Q
Nonglomerular causes of hematuria
A
Renal sontes Hypercalciuria Hemoglobinopathies Renal tumors (rare in children) Vascular malformations Thrombocytopenia Polycystic kidney
13
Q
MEN Type 2B
A
On exam: Tall, thin habitus, Full lips, Joint laxity
Mucosal neuromas
GI tract neuromas (constipation, diarrhea)
Alacrima
Medullary thyroid carcinoma (occurs in 100% of cases)
Pheochromocytoma
RET protoncogene
14
Q
MEN Type 2A
A
Medullary thyroid cancer
Pheochromocytoma
Parathyroid cancer
Benign tumors of parathyroid and adrenals
RET protoncogene
15
Q
MEN Type 1
A
Pituitary adenoma
Parathyroid hyperplasia/tumors
Pancreatic tumors
16
Q
Parvovirus
A
Erythema infectiousum (Fifth disease)
“slapped cheek” rash followed by symmetric, lacy or maculopapular rash over trunk and extremities (itchy)
Arthralgia
Papular-purpuric gloves-and-socks syndrome
Bone marrow suppressions; anemia
Aplastic crisis for SS pts
Infection in pregnancy -> fetal hydrops, IGUR, demise, NO congenital anomalies
17
Q
Trisomy 13 Phenotype
A
Midline defects
Scalp defects (cutis aplasia)
Rocker-bottom feet
Cardiac and renal abnormalities
18
Q
Trisomy 18 Phenotype
A
Clenched hands with overlapping fingers
Rocker-bottom feet
Short sternum
Cardiac, renal and ocular abnormalities
19
Q
Microcytic anemias
A
(Deficiency of RBC components)
- Iron deficiency
- Thalassemia
20
Q
Normocytic anemias
A
- Competition for marrow space (ie leukemia)
- Viral suppression
- Idiopathic
21
Q
Macrocytic anemia
A
- Vit B12 or folate deficiency
- Bone marrow failure syndromes (ie Diamond Blackfan Anemia)
22
Q
Types of Hemolytic anemias
A
Intrinsic:
- Membrane fragility (ie hereditary spherocytosis)
- Hemoglobinopathies (ie SSD)
- Enzyme deficiency (ie pyruvate kinase deficiency)
Extrinsic:
- Antibody mediated (ie autoimmune hemolytic anemia)
- Mechanical (ie HUS)
23
Q
Diamand Blackfan Anemia
A
24
Q
Early vs Late onset Listeria
A
Early: At birth, Preterm birth, gestational complications, green/brown stained amniotic fluid, respiratory distress and sepsis. Erythematous papular rash. Mortality 5%
Late: 1-8 weeks of life (typically 2 weeks), Term, uncomplicated gestation. Bacteremia and meningitis. Mortality 5%
25
Pathophysiology of Central Diabetes Insipidus
Inadequate secretion of antidiuretic hormone (ADH) from posterior lobe of pituitary gland.
Lack of ADH = large amounts of free water to be lost in the collecting duct of kidney
26
Lab findings in Central Diabetes Insipidus
Low urine specific gravity
Low urine osmolality on first void
Normal or high serum sodium (high if not able to compensate with increased intake)
27
Nephrogenic DI vs central DI; Testing
Nephrogenic: Inability of renal tubules to respond to ADH
Central: No ADH produced
Urine specific gravity will increase after exogenous ADH during water deprivation test in CDI but not with NDI
28
When is puberty considered delayed in boys and girls?
Boys: lack of testicular growth by 14 years
Girls: lack of breast development by 13 years
29
Type IV hypersensitivity
Delayed hypersensivity
Cell mediated, T Cell activation after repeat exposure
ie: poison ivy/oak/sumac
30
Most common pathogen to cause infective endocarditis
Staph aureus and Strep viridans (Step sanguis, mitis, orialis, and anginosus)
31
Pediatric presentation of Infective Endocarditis
```
Fever, malaise, anorexia, arthralgias
Heart failure
Splenomegaly
Petechiae
New or changing murmur
Embolic phenomenon
```
32
Initial treatment for infective endocarditis
Vanc and Gent
33
HACEK bacteria
```
Gram negative bacilli; seen in infective endocarditis
Haemophilus species
Actinobacillus actinomycetemcomitans
Cardiobacterium hominis
Eikenella corrodents
Kingela
```
34
Who should receive prophylactic antibiotics for dental procedure?
- Prosthetic heart valve
- Previous IE
- Unrepaired or recently repaired cyanotic coronary heart disease
- Heart transplant recipients with valvuopathy
(ppx is Amox or Cephalexin 1 hr prior)
35
Preventative medication for migraine in adolescents
Topiramate
Also can consider amitriptyline, cyproheptadine and propranolol
36
Presentation of of congenital/early onset glaucoma
Corneal clouding
Photophobia
Chronic tearing
Infants may not track/fixate on objects
37
Vit K dependent factors
II, VII, IX, X (and proteins C and S)
| both intrinsic and extrinsic, so both PT and PTT are prolonged in Vit K deficiency
38
What factor is deficient in Hemophilia A and B?
Hemophilia A: VIII
| Hemophilia B: IX
39
Factors in Intrinsic pathway
I, II, IX, X, XI and XII
aPTT
40
Factors in Extrinsic pathway
I, II, VII and X
PT
41
Fanconi anemia
***
42
Treatment for Hemophilia
- Desmopressin acetate (DDAVP)
| - Recombinant factor replacement
43
von Willebrand Disease; What is it, presentation and treatment
vWF binds to platelet surface stimulating adhesion/clot formation. Also is carrier for factor VIII.
Easy bruising, post op bleeding, epistaxis, menorrhagia
Normal PT
Abnormal platelet function test
Prolonged PTT
DDAVP for treatment
44
Factors in Common Coag Pathway
I (Fibrinogen), II (Thrombin), V (converts prothrombin to thrombin)
45
Calculate serum anion gap
Sodium - (Chloride + Bicarbonate)
| Normal = 8 to 12
46
Calculate urine anion gap
(Urine sodium + Urine potassium) - Urine chloride
If Na+ K is > Cl, then gap is POSITIVE
This indicates RTA (rather than diarrhea)
47
Causes of Elevated Anion Gap Metabolic Acidosis
```
MUDPILES
Methanol
Uremia
DKA
Paraldehyde
Iron / Isoniazid / Inborn errors of metabolism
Lactic acidosis
Ethylene glycol / Ethanol
Sailicylates
```
48
Causes of Normal Anion Gap Metabolic Acidosis
DR HAUP
```
Diarrhea
RTA
Hyperalimentation
Acetazolamide
Ureterosidmoid fistula
Pancreatic fistula
```
49
Symptoms/Findings of Congenital Adrenal Hyperplasia
```
Failure to thrive
Atypical genitalia
Metabolic acidosis OR alkalosis
HYPOnatremia
HYPERkalemia
```
ACTH: High,
Cortisol: Low Testosterone: High
50
Normal pH of urine
Average 6
51
Cushing Triad
Bradycardia
Hypertension
Irregular respiration
= ICP and impending herniation
52
Unilateral mydriasis
"Blown pupil"
Compression of 3rd cranial nerve
Indicative of uncal herniation under tentorium cerebelli
53
Waardenburg sydrome
ALWAYS hirsprungs
54
Prader Willi
Paternal deletion of region on 15q
Infant: Hypotonia, FTT, developmental delays
Child: Hyperphasia and obseity, OCD, anxiety, picking behavior
Phenotype: Almond shaped eyes, thin upper lip, small hands/feet. Hypogonadism, scoliosis, sleep apnea, temp instability, short stature
Growth hormone deficiency (universal), and variable central adrenal insufficiency and central hypothyroidism
Diagnosis with methylation analysis
55
Hallucinogen ingestion
Euphoria, tachycardia, hypertension, nausea, dizziness, weakness, vomiting, diarrhea
Acts on serotonin receptors = risk for serotonin toxicity
Supportive treatment
Not physiologically dependent
56
Lab findings in TLS (the the problems associated with them)
High K
High Phos
Low Ca (due to phos binding)
High Uric Acid
Cardiac dysrhythmias
Renal dysfunction due to uric acid and calcium phosphate crystals
57
Organophosphate toxicity
```
Bradycardia
Miosis (SMALL pupils)
Lacrimation
Salivation
Bronchospasm
Urination
Emesis and diarrhea
```
Bind to acetylcholinesterase, leading to acetylcholine excess at the neuronal synapse and neuromuscular junction
58
Extra-renal chloride losses (low urine chloride)
Pyloric stenosis
NG tube suction
Cystic fibrosis
59
Renal causes of chloride loss (high urine chloride)
Bartter syndrome
Gitelman syndrome
Loop or thiazide diuretic
* Primary hyperaldosteronism
* Liddle syndrome
* Cushing syndrome
*will also see HTN
60
Sarcoidosis
Noncaseating granulomas
| Lungs, skin, eyes and lymph nodes affected
61
Juvenile Myoclonic Epilepsy
Combo of myoclonic jerks, generalized tonic-clonic and/or absence seizure
Common early in am
Triggered by fatigue, flashing lights, alcohol and stress
Lifelong epilepsy; required antiepileptic meds
62
Benign focal epilepsy of children (ie benign rolandic0
Presents at 5-10 years
Focal, occur during sleep
Often secondarily generalize
Often outgrown by teens, normally no need for meds
63
Symptoms of adrenal insufficiency
```
Abdominal pain
Fatigue
Hypoglycemia
Hyponatremia
Metabolic acidosis
Nausea
Vomiting
Wt loss
```
64
Extraintestinal symptoms in Celiac disease
```
Anemia
Dermatitis herpetiformis
Dental enamel hypoplasia
Recurrent aphthous ulcers
Arthritis/Arthralgia
Headache
```
65
Opsoclonus-myoclonus-ataxia
Autoimmune or paraneoplastic syndrome
"dancing eye" movements + intermittent myoclonic jerks + ataxia
Seen in neuroblastoma or as a post-viral autoimmune condition
66
Renal AKI; Types
- Glomerular injury as occurs in acute glomerulonephritis
- Tubular injury as occurs in acute tubular necrosis (ATN) resulting from medications or toxins
- Interstitial injury as occurs in acute interstitial nephritis
- Vascular injury as occurs in hemolytic uremic syndrome
67
Adverse effects of ketogenic diet
Constipation
Emesis
Hyperlipidemia
Kidney stones
68
Juvenile Ankylosing Spondylitis
```
HLA-B27
Radiographic evidence of bilateral sacroiliitis
Anterior uveitis
Rheumatoid factor negative
Anti DS-DNA and ANA usually negative
```
69
What are the encapsulated bacteria
"Some Nasty Killers Have Serous Capsule Protection"
```
Strep pneumo (and GBS)
Neisseria meningitides
Klebsiella
H. flu type B
Salmonella typhi
Cryptocuccus (fungi)
Pseudomonas
```
70
Treatment for urea cycle disorder (metabolic emergency)
Treat hyperammonemia with:
1. Dialysis with hemofiltration
2. IV arginine hydrochloride and nitrogen scavenger durgs
Restrict protein for 12-24 hours
71
Medications that can worsen Myasthenia Gravis symptoms
Fluoroquinolones
Aminoglycosides
Magnesium
Beta blockers
72
Acyanotic heart defect; Left to Right shunting
ASD
VSD
Atrioventicular septal defects
PDA
Oxygenated blood returns to lungs -> more blood comes back to Left side, leading to enlargement (except in ASD, where R. ventricle is enlarged)
73
Zellweger syndrome
Peroxisomal biogenesis disorder
Screen for with serum very-long-chain-fatty acids
Present in neonatal period: hypotonia, poor feeding, dysmorphic facies, seizures, liver cysts, bony stippling in long bones
No metabolic crisis; rather are neurodegenerative. Die by 1 year
74
Chronic Granulomatous Disease
X-linked
***
dihydroxy-rhodamine123 reduction
75
Congenital Toxo
At birth: hydrocephalus, cerebral calcifications, chorioetinitis (retina), rash, hepatosplenomegaly, cytopenia, pneumonia
Later: ID, visual and hearing impairment
Testing: PCR or infant blood, urine and CSF
Treatment: Pyrimethamine, Sulfadiazine and folinic acid and Prednisone if chorioetinitis of CSF infection
Treat asymptomatic 3 months, symptomatic 12 months
76
Idiopathicpulmonary hemorrhage
Repeated episodes of pulmonary infiltrate and anemia without any infection
Maybe milk allergy associated?
There is no way they will test on this, right?
77
Cri du Chat syndrome
```
5p deletion
High pitched cry
Small head
Epicanthal folds
Micrognathia
Broad nasal brdige
DD/ID
```
78
Clinical and laboratory findings in portal hypertension
HSM or isolated splenomegaly with a small, hard liver
Palmar erythema
Spider angiomata
Ascites
Elevated transaminase levels
Thrombocytopenia or pancytopenia
79
Symptoms of adrenal insufficiency
```
Abdominal pain
Fatigue
Hypoglycemia
Hyponatremia
Metabolic acidosis
Nausea
Vomiting
Wt loss
```
80
What causes Hyponatremia in primary vs secondary adrenal insufficiency?
Primary: Hyponatremia caused by mineralocorticoid deficiency
Secondary (ACTH deficiency): Hyponatremia caused by water retention
*NOTE: Hyperkalemia is seen in primary adrenal insufficiency 2/2 the mineralcorticoid deficiency but NOT seen in secondary insufficiency because the renin-angiotensin-aldosterone system remains intact)
81
Menkes disease
Copper transport disorder
infants appear normal, then developmental regression at 2-3months
```
FTT
Seizures
Low tone
Kinky and hypopigmented hair
Death by 3yo
```
Labs show low copper and ceruloplasmin levels
82
Myotonic dystrophy type 1
Autosomal dominent trinuleotide repeat disorder (DMPK gene)
Muscle weakness
Cardiac conduction abnormalities
Posterior subcapsular cataracts
Sustained muscle contractions
Notable at birth
83
What is Fomepizole
A competitive agonist of alcohol dehydrogenase (prevents the metabolism of methanol to formic acid, which is the worse of the metabolites)
This is an antidote for methanol or ethylene glycol poisoning
84
Clinical presentaion of urea cycle disorder
```
Decompensation in the first 24-72 hours of life
Respiratory alkalosis
Obtundation
Hyperammonemia
Normal anion gap
```
Causes by absence or only partial functioning of 1 of the first 4 enzymes used to break down nitrogen (urea cycle). Nitrogen build up -> accumulates into ammonia
85
Types of Urea cycle disorders
Carbamoyl phosphate synthetase I deficiency (Low/undetectable orotic acid in urine)
Ornithin transcarbaylase deficiency (OTC) deficiency (X link recessive, very high orotic acid in urine)
Citrullinemia type I
Argininosuccinic aciduria
Arginase deficiency
86
Treatment for urea cycle disorder (metabolic emergency)
Treat hyperammonemia with:
1. Dialysis with hemofiltration
2. IV arginine hydrochloride and nitrogen scavenger durgs
Restrict protein for 12-24 hours
87
Maple syrup urine disease
Elevated branched chain amino acid levels (isoleucine, leucine and valine)
Ketonuria
Poor feeding in the few days after birth
Treat with dietary leucine restriction and isoleucine and valine supplementation
88
PKU
Autosomal recessive
Inborn error of metabolism of dietary intolerance of phenylalanine
Normal newborn period (so NBS is important!)
Later signs: ID/ASD, epilepsy, musty body odor, ezcema, decreased hair and skin pigmentation
89
Zellweger syndrome
Peroxisomal biogenesis disorder
Screen for with serum very-long-chain-fatty acids
Present in neonatal period: hypotonia, poor feeding, dysmorphic facies, seizures, liver cysts, bony stippling in long bones
No metabolic crisis; rather are neurodegenerative. Die by 1 year
90
Toxoplasma gondii
Obligate intracellular parasite
Most kids asymptomatic; may have lymphadenopathy or Mono-like sx
Severe cases of pneumonia, myocarditis, encephalitis
Latent infections do not need treatment; may need future ppx if pt becomes immunocrompromised
Treatment for symptomatic or congenital infection only.
Tx: Pyrimethamine, Sulfadiazine and folinic acid (if CNS involvement in neonate, add Prednisone)
91
Congenital Toxo
At birth: hydrocephalus, cerebral calcifications, chorioetinitis (retina), rash, hepatosplenomegaly, cytopenia, pneumonia
Later: ID, visual and hearing impairment
Testing: PCR or infant blood, urine and CSF
Treatment: Pyrimethamine, Sulfadiazine and folinic acid and Prednisone if chorioetinitis of CSF infection
Treat asymptomatic 3 months, symptomatic 12 months
92
Idiopathicpulmonary hemorrhage
Repeated episodes of pulmonary infiltrate and anemia without any infection
Maybe milk allergy associated?
There is no way they will test on this, right?
93
21-hydroxylase deficiency
Most common cause of 46XX disorder of sexual differentiation
Defect in adrenalglucocorticoid and mineralcortocoid production -> elevated ACTH -> adrenals make excess androgen -> virillization of female fetus
Salt wasting
Male will appear normal until salt wasting crisis
Diagnose with 17-hydroxyprogesterone level (intermediate, will build up in 21-HD deficiency)
94
Clinical and laboratory findings in portal hypertension
HSM or isolated splenomegaly with a small, hard liver
Palmar erythema
Spider angiomata
Ascites
Elevated transaminase levels
Thrombocytopenia or pancytopenia
95
Legg-Calve-Perthes disease
Idiopathic interruption of blood supply to femoral head epiphysis -> avascular necrosis
usually boys 6-8 yrs
Pts should be made non weight baring and be seen by ortho. Older kids with evidence of femoral head extrusion may need surgery
96
MELAS
Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes
Childhood onset of myopathy, seizures, vomiting, HA and Sensorneural hearing loss
Stroke-like episodes associated with periods of regression
Laboratory evidence of lactic acidosis
97
Menkes disease
Copper transport disorder
infants appear normal, then developmental regression at 2-3months
```
FTT
Seizures
Low tone
Kinky and hypopigmented hair
Death by 3yo
```
Labs show low copper and ceruloplasmin levels
98
Myotonic dystrophy type 1
Autosomal dominent trinuleotide repeat disorder (DMPK gene)
Muscle weakness
Cardiac conduction abnormalities
Posterior subcapsular cataracts
Sustained muscle contractions
Notable at birth
99
Parameters for starting insulin in T2DM
BG >250
A1c >8.5
100
Effects of Milrinone
Positive inotrope
Causes peripheral vasodilation
Can exacerbate diastolic hypotension
Long half life; need loading dose
*NOT good for early septic shock
101
Nitroprusside
Peripheral vasodilator
| Reduces afterload
102
Pressors for "warm shock"
```
Vasoconstriction:
Norepi
Vasopresin
High dose Epi
High dose Dopamine
```
103
Pressors for "cold shock"
Vasodialation:
Low-dose Epi
Low-dose Dopamine or dobutamine
104
Russel-Silver Syndrome
```
Growth retardation
Mcrocephaly
Large fontanelle
Blue sclera
Triangular face
Limb asymmetry
Hypoglycemia in infants and toddlers
```
105
Klippel-Feil Anomaly
Short, webbed neck
Cervical vertebral fusion
May be associated with hearing loss, laryngeal deformities, congenital heart disease, rib andomalies upper limb defects, GU abnormalities
106
Klinefelter Syndrome
```
XXY
Tall, thin but with female body shape
Scant facial and pubic hair
Hypogonadism, infertility
Mild developmental delay
Increased gynecomastia, increased risk for breast cancer
```
107
Angelman Syndrome
Microcephaly, broad mouth, large jaw, seizures, ataxia, "puppet like" gait, inappropriate laugher
loss of maternal 15q11 component
108
22q11.2 Deletion Syndrome (CATCH 22)
```
Includes DiGeorge Syndrome
Cardiac defects (Tetrology of Fallot)
Abnormal facies
Thymic hypoplasia
Hypocalcemia
Developmental delay
```
Embryonic defect is the underdevelopment of the fourth branchial arch and third and fourth pharyngeal pouches
109
Precocious Puberty
Bone age advanced
CPP: physical maturation occurs more rapidly
Brisk rise in FSH and LH
PPP: No rise in LH and FSH
110
Central Precocious Puberty -causes
```
Idiopathic
CNS lesion
Hypothalamic hamartoma
Tumors (neurofibroma, craniopharyngioma), Malformations (septooptic dysplasia, hydrocephalus, arachnoid cyst)
Infection (brain abscess)
Trauma (surgery, irradiation, injury)
```
111
Peripheral Precocious Puberty - causes
```
Congenital adrenal hyperplasia
Ovarian cysts
Autonomous (McCune-Albright)
Exogenous hormones
Severe primary hypothyroidism
Adrenal or gonadal tumors
```
112
What does DHEA-S level tell you
Marker for adrenarche (level appropriate for Tanner stage) and for the presence of adrenal tumors (markedly elevated)
113
Delayed puberty
14 years in boys and 12 years in girls
```
Constitutional growth delay
Hypopituitarism
Multiple pituitary trophic hormone deficiencies
Kallmann Syndrome
Chronic illness
Malnutrition
Hypothyroidism
Hyperprolactinemia
Turner Syndrome
Klinefelter Syndrome
Gonadal failure
```
114
Primary vs Secondary Adrenal Insufficiency - ACTH level
Primary: High
Secondary: Low
115
Primary vs Secondary Adrenal Insufficiency - Mineralcorticoid Deficiency
Primary: Present
Secondary: Absent
116
Primary vs Secondary Adrenal Insufficiency - Hyponatremia
Primary: Present (due to mineralcorticoid deficiency)
Secondary: Present (due to water retention)
117
Primary vs Secondary Adrenal Insufficiency - Hyperkalemia
Primary: Present (secondary to mineralcorticoid deficiency)
Secondary: Not a feature
118
Lemirre Syndrome
Jugular vein septic thrombophlebitis with infection of Fusobacterium necrophorum
Typically follows pharyngitis but can also be seen in other head/neck pathologies
119
What happens in rapid correction of Hyponatremia?
Central pontine myelinolysis because of the movement of fluid from brain cells to the extracellular fluid compartment.
120
What happens in rapid correction of Hypernatremia?
Cerebral edema because of movement of fluid into the brain cells
121
Pre-Renal AKI laboratory findings
Urine specific gravity is greater than 1.020
Urine sodium level is less than 10 mEq/L
FENa is less than 1%
Urine to plasma osmolality is greater than 1.5
BUN to creatinine ratio of 20:1
122
Renal AKI laboratory findings
Urine is dilute with specific gravity below 1.010
Urine sodium level is greater than 40 mEq/L
FENa is greater than 2%
Urine to plasma osmolality is less than 1.5.
BUN to creatinine ratio of 10:1 to 15:1
123
Homocystinuria
Amino acid disorder
Also known as cystathionine B-synthase deficiency
Increase in total plasma homocysteine level
Marfanoid habitus
Eye findings (severe myopia and risk of downward lens dislocation)
Intellectual/Developmental disability
Vascular thromboembolic events
Treat with methionine-restricted diet, and supplementation with B6, B12 and folate
124
Reiter Syndrome
Postinfectious arthritis, conjunctivitis, urethritis
Occurs ~1-6 weeks after infection
Association with HLA-B27
Typical organisms: N. gonorrheoeae, Shigella, Salmonella, Yersinia, Campylobacter, Strep pyogenes
Treat with ibuprofen
125
Tuberous Sclerosis
Associated with infantile spasms
Ash leaf spots, shagreen patches, cafe au lait spots
Subungal fibromas, adenoma sebaceum, cardiac rhabdomyoma
Epilepsy, DD, intracranial calcifications
Autosomal dominant, mutation in tuberin or hamartin genes
126
Sturge-Weber Syndrome
Port wine stain in CN VI distribution
Seizures, glaucoma, DD, Leptomeningeal angiomas, intracerebral calcifications
Not heritable, sporadic only
127
Types of Nephrotic Syndrome
Minimal Change Disease
FSGS
MPGN
128
Minimal Change Disease
```
Typically preschool boys
Can also see hematuria (microscopic)
HTN
Elevated Cholesterol levels
Mild Cr elevation
Responds to STEROIDS
Relapse common, but overall prognosis good
Complications: Peritonitis (strep, e coli) and vascular thrombus (when actively nephrotic ie hypercoaguable state)
```
129
Focal Segmental Glomerulosclerosis
Most likely when pts don't respond to minimal change disease treatment
Differentiate by histology;
Poor prognosis, chronic renal failure likely
Tx cyclosporine and high dose methylpred
130
Membranoproliferative Glomerulonephritis
```
More common in girls >8yrs
Hematuria and HTN common
C3 is LOW
Perform renal bx before starting tx!!! High dose steroid can lead to malignant HTN
Low dose pred for years
```
131
Compliment trends in Post Strep vs SLE vs IgA nephritis
*Post Strep Glomerulonephritis: C3 LOW C4 normal
**SLE: C3 and C4 LOW (consumptive process)
IgA: C3 and C4 NORMAL
* anti dsDNA positive
* *ANA positive
132
Signs/Symptoms of acute opiate exposure
```
Coma
Pinpoint pupils
Resp depression
Pulmonary edema
Bradycardia
Hypotension
Hypothermia
```
133
Signs/Symptoms of acute Hallucinogenic exposure
```
Disorientation
Hyperactive bowel sounds
Panic
Seizures
Tachycardia
Tachypnea
```
134
Signs/Symptoms of acute Cholinergic drug exposure
```
Confusion
Diaphoresis
Diarrhea
Emesis
Lacrimation
Miosis
Muscle fasciculation
Salivation
Seizure
Urination
Weakness
Bradycardia
Hypotermia
Tachypnea
```
135
Signs/Symptoms of acute Sedative drug exposure
```
Ataxia
Blurred vision
Deterioration of CNS
Nystagmus
Sedation etc
Paradoxical seizure
```
136
Signs/Symptoms of acute Sympathomimetic drug exposure
```
Anxiety
Delusions/Paranoia
Diaphoresis
Mydriasis
Hyperreflexia
Piloerections
Seizure
HTN
Tachycardia
```
(stimulate alpha-1 adrenergic receptors, beta-adrenergic receptors and dopamine (D) receptors ie clonidine, albuterol
137
Possible complications of EBV
Hematologic : Hemolytic anemia, Thrombocytopenia, Aplastic anemia, DIC, HLH
Neurologic: Meningitis, Optic Neuritis, facial nerve palsy, transverse myelitis, Ghuillain-Barre
Splenic rupture
Upper airway obstruction
Myocarditis
138
Galactosemia
Deficiency of enzyme activity/Impaired liver function resulting in high blood galactose
Presents in first few days of life
E coli sepsis can be seen
Labs abnormalities: Hyper bili, abnormal LFTs, coagulopathy, metabolic acidosis, presence of urine reducing substances
Cataracts, resolve if lactose-free formula started quickly
139
Coccidioidomycosis
Fungal infection
San Joaquin Valley
Fever, cough , night sweats, weight loss
Pulmonary consolidation, paratracheal and hilar adenopathy and spinal lytic lesion
Test with serology (follow up with CT, urine antigen testing and/or tissue bx if inconclusive)
140
Symptoms of kernicterus
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Decreased muscle tone
Absent Moro
Poor suck
High pitched cry
Seizures
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If prolonged/chronic, can develop hypotonia, hearing loss, choreoathetosis
141
NF1 vs NF 2
NF2 presents later in life with bilateral schwannomas. Can also have meningiomas, astrocytomas, and mononeuropathy
NF2 will have posterior subcapsular lens opacity, while NF 1 has lisch nodules
142
CHARGE Association
Coloboma, Heart anomalies, choanal Atresia, Retarded growth/development, Genital and Ear anomalies
143
JIA
ANA positive, typically (if positive, increased risk for anterior iritis)
Articular swelling and effusion
At least 6 weeks
Morning stiffness
144
HSP symptoms
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Purpura
Arthalgias
Abdomain pain/Diarrhea/GI bleeding
Renal involvement (hematuria)
Edema
Encephalopathy
Orchitis
```
Often occurs after URI,
Nephritis appears the same as IgA nephropathy on pathology
145
Beckwith Wiedemann
Macroglossia, hypoglycemia from pancreatic islet cell hyperplasia, may present with omphalocele.
Increased cancer risk: Wilms tumor, hepatoblastoma, neuroblastoma, and adrenocortical carcinoma. (Cancer screen with alphafetoprotein level)
146
Protein : Creatinine ratio in nephrotic syndrome
0.2 - 2
| <0.2 is normal
147
Anticholenergic Toxicity symptoms, and what do you do about it?
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Hot as a hare
Mad as a hatter
Dry as a bone
Red as a beet
Also have rigidity, mydriasis, QT prolongation
```
Treat with Lorazepam!
148
Serotonin Syndrome Symptoms
muscle rigidity, hyperpyrexia, hyperreflexia, and central nervous system depression
Can differentiate from anticholenergic poisoning because SS has predominant GI symptoms
149
Congenital Rubella
microcephaly, cataracts, sensorineural deafness, peripheral pulmonic stenosis, and radiolucent bone lesions. Calcifications can be seen on head imaging
150
Congenital Toxo
X
151
How is testosterone converted to Dihydrotestosterone (DHT)?
5alpha reductase
152
What is the role of Dihydrotestosterone (DHT)?
Virializing the external genitalia (penile length, fusion of labioscrotal folds, migration of urethra to tip of penis)
153
What are the lab findings in rickets
Very elevated alk phos
| +/- low phos
154
Role of DHEA in evaluating puberty
DHEA is elevated in precocious puberty
It comes from the adrenals
Is a marker of androgen production
155
Cardiac findings of neonates born to mother with GDM
Cardiomegaly
Asymmetric septal hypertrophy -> ( Tachycardia, poor cardiac function -> treat with Beta Blocker)
Cardiac failure
156
What bacteria is associated with Lemierre Syndrome
Fusobacterium necorphorum
157
Treatment of rheumatic fever
Aspirin
| Penicillin
158
Chronic Granulomatous Disease
X linked and autosomal recessive
Defects in cytochrome P450 system or NADPH system
Inability to kill engulfed cells that produce catalase (ie Staph aureus)
Recurrent skin and deep tissue abcesses
Fungal osteomyelitis
Pneumonia
Septicemia
Adenopathy and HSM
Nitrobue tetrazolium dye reduction and HDR assay
159
Chediak-Higashi Syndrome
Defective granulocyte functions
| Recurrent staph infections Associated with albinism
160
Leukocyte adhesion deficiency
Recurrent staph infections
No pus at site of infections
History of delayed separation of umbilical cord
161
Immunodeficiency associated with Neisseria infections
Deficiencies in C5, C6, C7 and C8
162
X-linked agammaglobulinemia aka Bruton
X linked
Recurrent, severe pyogenic infection of respiratory tract, bloodstream, meninges and deep tissues
Presents at 4-8 months of age
All levels of immunoglobulins, very few B cells in bloodstream
Sparse lymphoid tissue
163
X-linked hyper IgM syndrome
IgM levels are elevated
IgA, IgG or IgE response do not take place
Inefficient antibody productions
Defect is in the T lymphocyte
164
Wiskott Aldrich Syndrome
X-linked
Partial deficiency in both the antibody and cell mediated immune system
Eczema + Severe thrombocytopenia purpura + Recurrent infections
Splenectomy often needed
