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MORNING REPORT

Chari Larsen, MD PGY-3October 4, 2013

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HPI

7yo healthy girl presents to your continuity clinic around February witcomplaints of fever for >12 days. Has consistently been >38.5 every dmultiple occasions each day. Parents are worried because the fevertoo long to resolve.

Has associated sore throat, fatigue, pallor, periorbital edema, decreaappetite, leg/foot pain, mouth sores, nasal sores, nausea, and episod

epigastric cramping abdominal pain. All of these symptoms started oof the fever and are persisting. She really has not been acting like hepretty grumpy.

Denies any joint swelling, congestion, cough, sneezing, tachypnea, rweight loss, vomiting, diarrhea.

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History

PMH: Term birth without complications. Sleep apnea. Likely anxiety. Seasona

PSH: Tonsillectomy and adenoidectomy

Medications: Levsin, peppermint oil, Tylenol and Motrin PRN, Zyrtec PRN

Allergies: NKDA

SH: Lives with parents and 3 siblings. 2 are adopted and 1 is a full biological sPatient was conceived using a donor egg (patient is unaware of this). She is grade.

FH: No chronic medical conditions including IBD, IBS, arthritis, autoimmune d

Immunizations: Up to date.

Development: No delays. Doing well in school.

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Physical Exam

Weight: 11.97kg; Height: 133.00cm; BP: 94/52, HR: 100, RR: 20, Temp: 99.1 GENERAL: DELANEY appears well and is cooperative with exam. HEENT: Conjunctivae and sclerae clear. PERRL. No synechiae. EOM's intact. Fund

exam normal. Mild periorbital edema. Normal External ears. TMs B/L. No nasal disright nare has a small, healing septal ulcer. MMM. No oral ulcerations.

NECK: No masses or thyromegaly. mild cervical LAD. RESP: clear to auscultatation B/L. Normal respiratory rate and effort, no wheezes CV: RRR. Normal S1, S2. No significant murmur. No gallop. No rub. No bruits appre ABD: Soft Nontender/Non distended. No Hepatosplenomegaly. GENITALIA: deferred. EXTREMITIES: Warm. Good capillary refill. Normal pulses all 4 extremities. No edem SKIN: no rash. NEUROLOGIC: No focal abnormalities. No adventitious movements. No ataxia. MUSCULOSKELETAL: Full range of motion of all joints without swelling or tendernes

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7yo girl with >12 days of fevers, abdominal pain, leperiorbital edema, pallor, fatigue, & mouth/nasal

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More History

Jump ahead to August

Family has been in to see you multiple times now for the same complaints. Fealways last 10-16 days with the same set of associated symptoms.

Have kept a fever journal which notes fevers in

November 2012

February 2013

Late March 2013 May 2013

July 2013

August 2013

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Differential Diagnosis

Infectious Disease

CMV/EBV

Osteomyelitis

FUO

Colitis

Myositis

Strep throat

Hematology/Oncology Leukemia

Lymphoma

Tumor NOS

Hemolytic anemia

Rheumatology

PFAPA

TRAPs

FMF

JIA

Growing pains

Bechets disease

CRMO Gastroenterology

Celiac disease

Crohn disease

Functional abdominal pain

Mesenteric adenitis

Constipation

Gastritis

Psychiatry

Anxiety

Malingering

School avoidan

Nephrology

Nephrotic syndr

CKD

Cardiology

Atypical KD/KD

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Work-up

5/13/13 FEVER

WBC 3.01 (3B/37S/48L/12M), HGB 13.6, PLT 128; ANC 1200, ALC 1400; ESR 4

7/13/13 NO FEVER

WBC 11.1 (40S/52S/5.6M/2E), HGB 13.5, PLT 290; ESR 0

CMP WNL, UA WNL

C4 29, C3 125, EBV & CMV negative, DNAse B

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Periodic Fevers

How many can you name?

Hint there are 8

How are these conditions classified?

Autoinflammatory syndromes

Group of inflammatory conditions caused bydysregulation of the innate immune system.

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PFAPA (Periodic Fever, Aphthousstomatitis, Pharyngitis, & Adenitis) Most common in North America

No known genetic association or inheritance pattern

Typically starts age 3-5

Episodes occur REGULARLY every 4-6wks and last for up to 5 days (not longe

Is SELF-LIMITED

May have (in addition to the things in the name) nausea, vomiting, abdominand headache.

Throat cultures consistently negative

Treatment: no consensus; single dose of steroids fairly effective, tonsillectomycimetidine

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Familial Mediterranean Fever (FM

Most common hereditary autoinflammatory disease

Autosomal recessive, mutation in the MEFV gene

Common in Arabic, Turkish, Armenian, and Mediterranean populatio

Fevers occur every 4-8wks and last for 1-3 days

Clinical hallmark is SEROSITIS (peritonitis, pleuritis, synovitis)

Also have erysipelas-like rash on shins and dorsum of feet, monoarthritis, m

Can develop RENAL AMYLOIDOSIS

Treatment: colchicine or Anakinra if colchicine resistentn

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TNF-Receptor Associated PeriodiSyndrome (TRAPS) Autosomal dominant, linked to mutation in TNFRSF1A gene that enco

TNF receptor

Age of onset ranges from childhood to several decades of age

Episodes last 3-4 WEEKS and occur at IRREGULAR intervals

Clinical findings include: migrating erythematous maculopapular rasspread from trunk to extremities, severe migratory myalgias associaterash, arthralgias, conjunctivitis, PERIORBITAL EDEMA, and severe abdopain

Treatment: steroid provide symptomatic relief but dont diminish the

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Hyperimmunoglobulinemia DSyndrome (HIDS) Rare

Genetic mutation in mevalonate kinase gene

>90% show symptoms within the 1st year of life

Fevers last 4-7 days and occur every 4-8 weeks

Clinical features: abdominal pain, vomiting, diarrhea, tender cervica

ulcers, arthralgias, large joint symmetric arthritis Have striking elevation of serum IgD and IgA during the fever episode

Treatment: NSAIDs and corticosteroids

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Cryoporin Associated PeriodicSyndrome (CAPS) Group of 3 diseases that are on a continuum of severity

All associated with genetic mutations involving NLRP3 gene encoding cryop

Onset in INFANCY

Familial Cold Autoinflammatory Syndrome (FCAS):

Develop fever, chills, and generalized non-pruritic urticarial skin lesions after exposu

Symptoms persist up to 24hrs

Risk of developing amyloidosis in adulthood

Muckle Wells Syndrome (MWS):

Generalized urticarial rash, arthralgias, myalgias, arthritis, and conjunctivitis

Frequent fever episodes lasting 24-48hrs

Progressive NEUROSENSORY HEARING LOSS emerges in adolescence

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CAPS cont.

Neonatal Onset Multisystem Inflammatory Disease (NOMI

Known as CINCA in Europe

Nearly clinical features that develop shortly after birth

Fever episdoes lasting 24-48hrs several times a week

Distinguishing feature: POOR GROWTH AND FTT

Clinical features: nearly constant generalized urticarial rash, aseptimeningitis, SNHL, optic nerve atrophy, intellectual disability, deformarthropathy, conjunctivitis, episcleritis, uveitis, papilloedema, LAD,

Poor long-term prognosis with high morbidity and mortality

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PFAPA FMF TRAPS FCAS MWS/NOMIDOnset 2-5yrs

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References

Goldsmith, DP. Periodic Fever Syndromes. Pediatrics in Review. Vol. 70, No. 5e41. May 2009.

A Residents Guide to Pediatric Rheumatology. 2011 Revised Edition. The HoSick Children. Pages 41-46.