Shot, Shot, Shot!
A previously unimmunized child presents at 4 months of age.
It is too late to administer which routinely recommended vaccine?
Rotavirus.
First dose before age14 weeks and 6 days
Second dose before age 8 months
A 10 yo boy presents with:
- Sore throat
- Headache
- Fever
- Cervical LAD
- Splenomegaly
What is the best way to test your suspected diagnosis?
Test for EBV Antibodies
- IgM- viral capsid + (VCA) = acute primary or very recent past
- EBV nuclear antigen (EBNA) + = convalescent or post infection
A newborn female presents with virilization, no salt wasting, and hypertension.
What is the most likely diagnosis?
11 beta hydroxylase deficiency
Differs from 21 hydroxylase deficiency as follows:
- No salt wasting
- Presence of HTN
Papules and pustules with open and closed commedones distrubuted over the face:
- Absent at birth
- Appear at 2-4months of age
- More common in boys
What is the most likely diagnosis?
Infantile acne
Unlike neonatal acne, generally needs tx with BP/retinoids/antibiotics
Caused by androgenic stimulation of sebaceous glands
Potentially persistent and can cause scarring in severe cases.
4yo girl presents with:
- Fever
- Aphthous ulcers
- Cervical lyphadenitis
- Occasional rectal/vaginal ulcers
Symptoms occur ~ every 21 days.
What is the most likely diagnosis?
Cyclic neutropenia
Regular intervals. During 3-7days of neutropenia, ANC is <200/uL
Management: G-CSF and antibiotics for infections
What are the 5 SC administered vaccines?
MMR
Varicella
MMRV
PPSV 23
IPV
**PPSV23 and IPV may be given either IM or SC
A pt from North Carolina presents with:
- Fever
- Headaches
- Arthralgias
- Maculopapular rash on extremities that has become more petechial
- Serum Na = 128 mg/dL
- Plts 110k
What is the most likely diagnosis?
RMSF
A 4yo girl presents with vaginal bleeding. You note she has very large cafe au lait spots. Bone X-ray shows fibrous dysplasia.
What is the most likely diagnosis?
McCune-Albright syndrome
in girls, MAS presents with vaginal bleeding (classic endocrine presentation)
Markedly enlarged ovaries and cysts
Evidence of autonomous endocrine hyperfunction due to missense mutation in the alpha unit of the stimulatory G protein.
Gland works independently - no feedback loop.
Clinically:
Elevated TSH, FSH, LH, GHRH & ACTH receptors
A child presents with irregular speckled areas of bluish-grey discoloration in periorbital region.
What future complications do you worry about in this child?
Ocular and cutaneous melanoma.
Nevus of Ota/"Oculodermal melanocytosis".
Most commonly seen in African American or Asian infants
Unilateral, irregular speckled areas of bluish-grey discoloration on the face, especially the periorbital area, temple, forehead, cheek, nose, sclera.
malignant complication is rare
More common complications:
- Uveitis, glaucoma, cataracts.
Periodic eye and skin exams because of rate complications of melanoma.
AR disorder
Presents at a young age with severe bacterial infections
ANC <200/uL
What syndrome has these characteristics?
Kostmann Syndrome (severe congenital neutropenia)
rare AR disorder
they are predisposed to severe bacterial infection and early death
Management: high doses of G-CSF
BM transplant is curative
Varicella vaccine is contraindicated in children/adolescents receiving what dose-and for how long- of systemic corticosteroids?
>2mg/kg (or 20mg/day if >10kg) for more than or equal to 14 days
Should not receive vaccine for at elast 1 montg after d/c steroid.
A child form Upstate New York presents with erythema migrans.
What serology should you order on this patient?
None
Stage 1 lyme - 90% are serology negative in this stage.
Dx based on clincal findings
Treat
17 yo female presents with:
- Increased pigmentation of hands (particularly palmar creases), face, periumbilical, axilla and nipples.
- Anorexia
- Fatigue
- N/V, no diarrhea
- Salt craving
- Weakness
What is the most likely diagnosis?
Addison disease
Most common etiology of adrenal insufficiency
Predominantly caused by autoimmune destruction of adrenal cortex
What skin condition consisting of red, tender, warm nodules on shins is associated with infection, drugs, IBD
Erythema nodosum
Associated with sarcoidosis, in children it s=is more commonly due to the above.
Often idiopathic. Most common identifiable cause: strep pharyngitis
A pt presents with hemorrhage after tonsillectomy.
- aPTT is prolonged
- PT & plts are nl
- Mixing study normal
What lab test should you perform next?
Factor assays (8, 9 & 11)
2 and 1/2 yo boy underwent emergent splenectomy at 16 months of age. He has received a total of 4 doses of PCV 13. His last dose was at age 15 months.
What are the recommendations for PPSV 23 for this pt?
PVC 13 4 doses (reg sched), catch up sched for pts </= 59m
Minimum interval of 8w between last PCV 13 and first PPSV 23
2nd PPSV 23 5 years later
Newborn of mom who recently immigrated from Albania, presents at birth with:
- Petechiae & purpura on face, trunk and extremities
- Hepatosplenomegaly
- Hemolytic anemia
- PDA w/o pulmonary artery stenosis
- Cataracts & microphthalmia
- Radiolucencies in the metaphyseal long bones
What is the most likely diagnosis?
Congenital rubella syndrome
"blueberry muffin" baby + PDA & cataracts
A child presents with HTN. Baseline labs show
- HypoK
- suppressed plasma renin levels
What is the most likely diagnosis?
Primary hyperaldosteronism
rare in children.
includes all disorders in which overproduction of aldosterone occurs independent of the RAS
Syndrome sometimes associated with port wine stain
Sturge webber
- Ipsilateral cerebral vascular malformation, causes neurologic complications: seizures, intellectual disability, contralateral hemiplegia, choroidal vascular abnls, glaucoma
- AR
- Macrothrombocytopenia with giant platelets
- Plts do not aggregate to ristocetin, do aggregate in response to adenosine phosphatase, epinephrine and collagen.
What syndrome presents with these findings?
Bernard-Soulier syndrome
mild thrombocytopenia and giant plts
Deficiency pf platelet glycoprotein 1b in the plt membrane --> cannot aggregate properly
Severe mucocutaneous bleeding starting in infancy
Within hours of 1st DTaP, a 2month old girl becomes irritable and had a febrile seizure with a T 104.8F
Do these reactions represent an absolute contraindication to additional doses of DTaP?
No
Absolute CIs:
- Hx of encephalopathy within 7d of vaccine
- Immediate anaphylaxis reaction
delay vaccination of pt with hx of a progressive neurologic disorder until stable/process clarified.
Relative CIs:
- Irritability
- Fever >104.8F
- Hypotonic, hypo-responsive episode
- Seizure within 3 days of receiving prior dose
A 5yo boy from rural Arkansas presents with:
- Fever to 102.0F (38.9C)
- Swollen lymph node in the right inguinal area
What is the most likely diagnosis
Tularemia
Arkansas/Missouri/Oklahoma
+
Swollen lymph nodes
+
Fever
Francisella tularensis. Rabit manipulation
Tx: gentamicin/streptomycin x 10 days
16 yo male presents with:
- Hx of adrenal cortex deficiency
- New-onset clumsiness
You suspect adrenoleukodystrophy
The levels of which fatty acid do you expect to be elevated?
Very high levels of VLC fatty acids
Adrenal cortex deficiency with demyelination of CNS.
Associated with very high levels of VLCFAs in tissues and body fluids due to their lack of breakdown in peroxisomes.
A child presents with:
- Dandy-Walker syndrome
- Hemangioma that is large and involves cervicofacial area
- Intracerebral artery anomalies
- Coarctation of the aorta
- Microphthalmia
What is the syndrome
PHACES syndrome
Posterior fossa abnls
Hemangioma (generally large and involve CN 3 distribution)
Arterial abnls (typically intracerebral Aas)
Cardiac defects
Eye abnormalities
Sternal defects/supraumbilical raphe
AR
Neutropenia
Exocrine pancreatic insufficiency
Diarrhea
Short stature
Metaphyseal dysostoses
Recurrent infections
FTT
Name the syndrome
Schwachman-diamond
results from mutations in the SBDS gene