[CIS PIDD] [cis-pidd] 15 month old with recurrent fevers, rash and gamma migrating paraprotein

Fri Aug 28 14:47:42 EDT 2015

Agree (yet again :=) ) with Kate on both, if C4 and CH50 are not both zero (in both if identical), would definitely go for AIS gene testing and CIAS1 seems the best candidate.

Mikko Seppänen, Finland

Lähettäjä: Sullivan, Kathleen [mailto:SULLIVANK at email.chop.edu]
Lähetetty: 28. elokuuta 2015 21:43
Vastaanottaja: CIS-PIDD
Aihe: [MARKETING]Re: [cis-pidd] 15 month old with recurrent fevers, rash and gamma migrating paraprotein

How low was the C4?  Sure looks like CIAS1-type of auto inflammatory disease and the range of C4 is huge with poor production in early infancy.

Kate Sullivan, MD PhD
Wallace Chair
Chief of Allergy Immunology
ARC 1216 CHOP
3615 Civic Center Blvd.
Philadelphia, PA 19104
(p) 215-590-1697
(f) 267-426-0363

On Aug 28, 2015, at 2:30 PM, Farzan, Sherry <sfarzan at NSHS.edu<mailto:sfarzan at NSHS.edu>> wrote:

Hello all,

I have an interesting patient (actually two – twins as you can see below) with whom I would love your input. Images were attached with permission of parents.

SZ is a 15 month old girl, previously healthy, who presented for immune evaluation.

SZ developed a rash on March 15th that began centrally on her abdomen and back. By the end of April, the rash spread to the neck, head, face, wrist and ankles. Rash was described as flat, not itchy, not painful, constant, non-desquamating, the rash had faded mildly in the past few days prior to presentation. Parents have tried diphenhydramine, loratidine, cetirizine prednisolone x 5 days, hydroxyzine, desonide cream with no relief.
Beginning in June, patient developed fevers, occurring every several days, Tmax 103.8, averaging 101 degrees F, 3-4 times per week. The longest period free of fever has been 6 days. Mother of child (MOC) reports Tylenol will help fever go down in 1 or 2 doses per day.
On ROS, she had 2.5 weeks of diarrhea in the middle of June, which resolved, and she returned to normal stooling. Her twin sister was sick with the same symptoms at the time. MOC notes she has intermittent congestion, no cough or conjunctivitis or oral lesions. Prior to onset of rash and fevers, she had RSV bronchiolitis in January, treated as an outpatient with Albuterol nebulizer treatments, and she returned to her baseline health. Pt also had left otitis media in December, which resolved with antibiotics. No other infections or hospitalizations or emergency room visits.
Birth History: Patient was the product of a naturally conceived mono-di twin pregnancy, delivered via NSVD at 34 weeks gestation. She was in the NICU for 10 days, required supplemental oxygen via nasal cannula for 1 day, and then was discharged home. Since discharge, she has been growing and developing appropriately.
IUTD except varicella and MMR.

Physical Exam: Well-appearing female with shotty posterior cervical LAD and inguinal LAD. Erythematous serpiginous rash on torso, legs, hands, feet, arms, involving soles of hands and feet, blanching (see image); erythematous rash on cheeks sparing nasolabial folds (see image). No HSM. Normal HEENT, cardiorespiratory exam, GU, musculoskeletal and neurologic exam.

Lab work showed elevated inflammatory markers, low C4, C2, normal C3, and undetectable CH50. C1 esterase function is normal. As per mother, a skin punch biopsy showed "idiopathic urticaria." Currently, a periodic fever panel is pending. Serial CBC’s notable for lymphocytosis between 5000-10,000, with otherwise normal differential. No leukopenia or thrombocytopenia. Negative antibody screening for SLE. Serial IgG is elevated (1943, 3010), other immunoglobulins within normal range. She has a few elevated inflammatory markers including ESR and CRP. SPEP revealed gamma migrating paraprotein Flow cytometry revealed elevated T and B cell markers (CD19 and CD8). Normal electrolytes, kidney function and liver function tests in when labs reviewed from 7/2015, but follow up metabolic profile demonstrated AST 430, ALT377. TFT’s normal. Tryptase level normal. ASLO negative.

Interestingly, her twin sister has developed a similar rash on her trunk, but has not developed fevers as of yet. Her laboratory work up is significant for a similarly elevated AST and ALT, elevated platelets low C4, elevated total IgG (1840), a gamma migrating paraprotein, low CH50, elevated CD8 and CD19

A/P: 15 month old girl who presents with a 5 month history of rash and 2 month history of persistent fever occurring several times a week. Her low C4 indicates either a C4 deficiency versus complement consumption.  The evidence of elevated inflammatory markers, paraprotein gammopathy, possible complement consumption suggest either an autoimmune or autoinflammatory disorder. The differential diagnosis includes an autoimmune condition, such as juvenile idiopathic arthritis (although she has not developed arthritis as of yet), autoinflammatory syndromes (periodic fevers, Schnitzler's syndrome, the latter being unusual in a child). A genetic periodic fever panel is pending to rule out these diagnoses the genetic periodic fever syndromes. Given her age, her presentation may be consistent with CAPS either the NOMID of the Muckle-Wells variant, although complement consumption is rare in CAPS. There is usually no complement consumption in Schnitzler's syndrome, except in a couple of cases with associated complement deficiency. If genetic panel for periodic fevers is negative, other considerations include CANDLE syndrome, and full genome sequencing should be pursued.
<image005.jpg><image006.jpg>

Sherry Farzan, MD
Attending, Allergy and Immunology, North Shore - Long Island Jewish Health System
North Shore-LIJ Medical Group
Assistant Professor, Medicine and Pediatrics, Hofstra North Shore-LIJ School of Medicine
865 Northern Blvd, Suite 101, Great Neck, NY 11021
P: 516.622.5070
F: 516.622.5060
E: sfarzan at nshs.edu<mailto:sfarzan at nshs.edu>

2012 Silver Award Recipient
Partners in Performance Excellence
Regional Baldrige-Based Program

Find us online: nslijdocs.com<http://www.nslijdocs.com/>

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