Case Study #1

1. Case Study #1 Fawn Mumbulo 2013 670 Intermediate Family Level Instructor: Melissa Muha, FNP

2. Encounter was 8/26/2013 @ Child Adolescent Healthcare Associations A.N. seven year old female

3. Hx of present illness, pertinent ROS • Accompanied & encounter is reported by mother • CC: Fever for two days, swollen cervical nodes for one day. • HPI: Recurrent fever with lymphadenopathy and rash. Irritable & restless. • Vital signs: • Temp 39.5 degrees; HR 84 bpm; RR 84/42 mmHg; Ht 45.75 in.; Wt 39.6 lbs.; BMI 13.3; visual acuity 20/20 bilaterally • ROS: • General- Mother reports no fatigue, or wt. loss, positive fever, no night sweats, see HPI • EENT- Mother reports no reduced visual acuity, strabismus, diplopia, blurred vision, photophobia, eye redness, itching, discharge, or pain in eyes. Mother reports no ear discharge, pain, or hearing loss bilaterally. Reports no nasal congestion, discharge, postnasal drip, sneezing, epistaxis, or hoarseness. Reports pos. for sore throat. • Respiratory- Reports no dyspnea, cough, wheezing, or pleuritic pain. • Cardiovascular- Reports no chest pain, nocturnal dyspnea, or edema. • Gastrointestinal- Reports no loss of appetite, dysphagia, abdominal pain, nausea, vomiting, change in bowel habits, diarrhea, constipation, or blood in stool. • Lymphatic- Reports positive swollen lymphnodes with tenderness bilateral neck. • Skin- Mother denies skin rash, lesions, dry skin, or pruritus. • Allergic/immunologic- Reports no urticaria, wound healing not impaired.

4. Past medical hx, health status, health risks, illness, disability & family problems • Social History • Lives with both parents, 5 yr old brother, 1 dog, 1 cat, fish • Is in the 2nd grade • Rides bike • ties shoe laces • reading at grade level • math at grade level • has no issues with school or friends at this time • Anticipatory guidance • Balanced diet • Positive fluoride use • Dental care, brushes teeth daily • Set appropriate bed time • Encourage reading • Regular physical activity • Uses seat belts, wares helmets, bicycle safety, uses sunscreen • Avoids tobacco & smoke exposure • Family History is insignificant • Health risks are insignificant • 8/26/13 Upper respiratory infection; wax in ear • 5/4/13 Throat pain • 2/10/13 Acute Tonsillitis • 12/5/12 Fever, acute tonsillitis • 2/10/12 Gastroesophageal reflux; acute tonsillitis • Medications- none at this time • Allergy to Penicillin's (Hives)

5. Develop/discuss diff dx • Signs & Symptoms • Periodic fever (>39 degrees Celsius), lasting 3-6 days, recurs every 3-4 wks • Aphthous ulcer, sm. lesions which are often asymptomatic • Pharyngitis • Cervical lymphadenopathy • Child is well between monthly exacerbations • Non-contagious inflammatory process • Malaise • Headache • Arthralgia’s • Abdominal pain & vomiting • hepatosplenomegaly • Epidemiology • 1st episode in children under 5 years (can occur in ages 3mo.-12 yrs) • Most common recurrent fever in children • Most children have resolution of syndrome in the 2nd decade of life • Differential Diagnosis • Recurrent fever • Aphthous Ulcer • Pharyngitis • Cyclic neutropenia • Behcet’s disease • Juvenile idiopathic arthritis • Familial Mediterranean fever • Familial Hibernian fever • Hyperglobulinemia D syndrome (Berlucchi & Nicolai, 2004; fpnotebook.com, 2013; Galanakis, Papadakis, Giannoussi, Karatzanis, Bitsori, & Helidonis, 2002)

6. Physical Examination • Constitutional: Appear well, alert, cooperative • EENT: Negative findings for abnormality with ocular motility, conjunctiva, eyelids, sclera, pupil size/shape. Visual acuity 20/20 bilaterally. Negative findings for abnormality in external ear, ear canal, tympanic membrane, conversational hearing. External nose, nasal mucosa, & oral mucosa wet, dry, pink. Dentition with no decaying seen. Tonsils +3 bilaterally with errythemia, negative for Aphthous ulcers. • Neck: symmetrical, no thyromegaly. Positive for tonsilar lymphadenopathy bilaterally, tenderness upon palpation. ROM within limits, no tenderness. • Respiratory: Chest movement is symmetrical, lungs clear bilaterally. No axillary lymphadenopathy. • Cardiac: Heart rate 84 bpm, no deviations with rhythm, no heart murmurs. • Gastrointestinal: Bowel sounds heard in all four quadrants, abdomen soft, no hepatosplenomegaly, no abdominal tenderness, no masses or hernias. • Genitalia: Tanner stage 1, Breasts Tanner stage 1. • Musculoskeletal: Gait with no deviations, no muscle weakness in extremities X 4. Full ROM in all extremities.

7. Need for more definitive info, screening for risks, dx testing-explain rationale • Labs: Rapid strep negative, culture sent. • There are no laboratory tests specific to diagnose. Diagnosis is based on symptoms, history, & physical exam. WBC, ERCP, & CRP will show elevation due to inflammatory response. • Exclusions: Streptococcus & disease’s that have recurrent FUO. • Diagnosis can be confirmed after throat culture results. If negative then diagnosis would be consistent with A.K. history. (American College of Rheumatology, 2013)

8. PFAPA Syndrome / Marshall Syndrome • Named Marshall’s syndrome in 1987 & given the acronym PFAPA (periodic fever, aphthous stomatits, pharyngitis, cervical adenitis). • In 1989, diagnostic criteria was proposed which include: • Regularly recurring fevers early onset <5yrs age • Symptoms in the absence of URI with at least one clinical signs of aphthous stomatitis, cervical lymphadenitis, or pharyngitis. • Exclusion of cyclic neutropenia • With complete asymptomatic in-between episodes • Normal growth & development • If suspected refer to infectious disease, rheumatology, or immunology for definitive diagnosis. (Berlucchi & Nicolai, 2004; Tasher, Somekh, & Dalal, 2006)

9. Management plan, interventions, education needed • Aim of treatment is to control the symptoms during episodes of fever & to shorten the duration. • Fever does not respond well with Tylenol or NSAIDS, antibiotics have no affect. • A single dose of prednisone (2 mg/kg) given when the symptoms 1st begin as shown to shorten or end the episode (although studies have shown that this can cause the next cyclic fever to present earlier). If the fever disappears within the first or second dose of steroid then it can be used to confirm diagnosis of PFAPA. • Cimetidine & Colchicine used for prophylaxis may prevent future episodes in 1/3 of children. • Tonsillectomy is confirmed as an effective treatment, although studies show that most children stop having PFAPA episodes in their 2nd decade of life. • Studies have shown with tonsillectomy’s in children diagnosed with PFAPA will have no recurrence after 10 months • It is not uncommon for children who are diagnosed with PFAPA to have been diagnosed multiple times for tonsillitis. • Education • Encourage parents that PFAPA syndrome resolves spontaneously after several years in about 40% of children. • Multiple days of school will be missed which can stigmatize the child to social issues. Allow child to socialize as much as possible. • Missed school days and missed work days for parents can put strain on the family dynamics. Consider counseling if this evolves. • Prednisone can cause transient hyperactivity in children. • PFAPA is not contagious or infectious. (American College of Rheumatology, 2013; Berlucchi & Nicolai, 2004; Galanakis et., al. 2002; fpnotebook.com, 2013; National Institutes of Health, 2011; Stojanov et., al. 2011; Tasher, Somekh, & Dalal, 2006)

10. References • American College of Rheumatology, (2013). Periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome (PFAPA) (juvenile). Retrieved from website http://www.rheumatology.org/Practice/Clinical/Patients/Diseases_And_Conditions/PFAP A • Berlucchi, M., & Nicolai, P. (2004). Marshall’s syndrome or PFAPA (periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis) syndrome. Retrieved from website http://www.orpha.net/data/patho/GB/uk-PFAPA.pdf • fpnotebook.com, (2013). PFAPA syndrome. Retrieved from website http://www.fpnotebook.com/id/Peds/PfpSyndm.htm • Feder, H. M., & Salazar, J. C. (2010). A clinical review of 105 patients with PFAPA (a periodic fever syndrome). Acta Paediatrica, 99, 178-184. doi: 10.1111/j.1651-2227.2009.01554.x • Galanakis, C. E., Papadakis, C. E., Giannoussi, E., Karatzanis, A. D., Bitsori, M., & Helidonis, E. S. (2002). PFAPA syndrome in children evaluated for tonsillectomy. Arch Dis Child, 86, 434- 435. • National Institutes of Health, (2011). Scientists identify new treatment to combat PFAPA syndrome in children. Retrieved from website http://www.news- medical.net/news/20110411/Scientists-identify-new-treatment-to-combat-PFAPA- syndrome-in-children.aspx • Stojanov, S., Lapidus, S., Chitkara, P., Feder, H., Salazar, J. C., Fleisher, T. A., Brown, M. R>, Edwards, K. M., Ward, M. M., Colbert, R. A., Sun, H., Wood, G. M., Barham, B. K., Jones, A., Aksentijevich, I., Goldbach-Mansky, R., Athreya, B., Barron, K. S., & Kastner, D. L. (2011). Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade. Pnas, 108(17), 7148-7153. doi: 10.1073/pnas.1103681108. • Tasher, D., Somekh, E., & Dalal, I. (2006). PFAPA syndrome: New clinical aspects disclosed. Arch Dis Child, 91, 981-984. doi: 10/1136/adc.2005.084731.