512179
research-article2013
CPJXXX10.1177/0009922813512179Clinical PediatricsMcHenry et al
Resident Rounds
Back Pain in a Patient With Common Variable Immunodeficiency
Clinical Pediatrics 2014, Vol. 53(2) 198–200 © The Author(s) 2013 Reprints and permissions: sagepub.com/journalsPermissions.nav DOI: 10.1177/0009922813512179 cpj.sagepub.com
Megan S. McHenry, MD1, Ashley R. Deschamp, MD1, and Theresa M. Rohr-Kirchgraber, MD1 Case Report A 16-year-old white female with a history of common variable immunodeficiency (CVID) presented to the emergency department with back pain and dysuria. Her symptoms started 1 month prior to presentation with clear vaginal discharge and erythema of the labia bilaterally. She was diagnosed with a nonspecific vaginitis, completed a course of amoxicillin, and the discharge and erythema resolved. The day prior to presentation, the patient had acute onset of left-sided back pain that radiated to the left lower abdomen. The pain was sharp without alleviating factors. She denied fevers, urinary frequency or urgency, as well as sexual activity or vaginal discharge. A few hours later, she had acute onset of nausea, vomiting, and noted to have decreased urine output. Her past medical history was significant for CVID with a history of associated meningitis and histoplasmosis, and autoimmune hemolytic anemia. For treatment, she was receiving monthly infusions of intravenous immunoglobulin. Three months prior to admission, an evaluation for right hip and thigh pain included hip and lumbar spine x-rays and computed tomography (CT) of the lumbar spine, which were negative, and the pain spontaneously resolved. Review of systems was otherwise negative, and she was currently menstruating. On physical exam, the patient was in notable pain as she was shifting in bed. Vital signs were significant for tachycardia and hypertension (heart rate = 100 beats/ min, blood pressure = 136/90 mm Hg). She had leftsided costovertebral tenderness, voluntary guarding, and tenderness in the left lower quadrant of the abdomen, with no rebound or rigidity, and no right-sided abdominal findings. Complete blood count, basic metabolic panel, urinalysis, urine culture, urine pregnancy test, and chlamydia and gonorrhea urine polymerase chain reaction were done. The blood count was significant for a white blood cell count of 14 000/µL with a normal differential. The basic metabolic panel was normal. Urine pregnancy test was negative. Urinalysis was significant for red blood cells and hemoglobin along with leukocyte esterase. Renal bladder ultrasound showed a soft tissue lesion superficial to the bladder, with vascular flow, and deep
Figure 1. Large pelvic mass anterior to bladder (arrow) with multiple involved lymph nodes.
to the subcutaneous fat of uncertain etiology. She was admitted with the working diagnosis of pyelonephritis and required significant pain medications overnight.
Hospital Course The next day, she remained afebrile and her pain seemed out of proportion to the physical exam. To further evaluate the lesion noted on ultrasound, an abdominal and pelvic CT with contrast was performed (Figure 1). The CT revealed a large pelvic mass which appeared to arise from the right lateral rectus muscle and extended up and around the left side of the bladder. Multiple intraabdominal lymph nodes were involved. Malignancy was suspected, and a core needle biopsy of the mass was performed. Pathology showed diffuse large B-cell lymphoma. She started on chemotherapy and once her pain was adequately controlled on oral medications she was able to be discharged home to return for additional chemotherapy treatments in the future. 1
Indiana University School of Medicine, Indianapolis, IN, USA
Corresponding Author: Megan McHenry, Riley Hospital for Children, Pediatric Education, 702 Barnhill Drive, Indianapolis, IN 46202, USA. Email: [email protected]
Downloaded from cpj.sagepub.com at UCSF LIBRARY & CKM on June 12, 2015
199
McHenry et al
Final Diagnosis
consider infectious etiologies but malignancies common to this population as well.
Diffuse large B-cell lymphoma.
Conclusion
Discussion Common variable immunodeficiency is the most common primary antibody deficiency syndrome, with a suggested prevalence of 1 per 50 000.1 It involves immune dysfunction of B and T lymphocytes and dendritic cells, and its defined by the following criteria: age-specific reductions in serum concentration of IgG in combination with low levels of IgA and/or IgM, presence of B cells, poor or absent response to immunizations, and an absence of any other immunodeficiency state.2 The clinical spectrum of CVID is broad, and it may result in a variety of medical conditions. Some examples of its manifestations include lung disease (recurrent pneumonias, granulomatous disease, and bronchioestasis), gastrointestinal issues (diarrhea, malabsorption, and weight loss), autoimmune diseases (anemia, thrombocytopenia, rheumatoid arthritis), and malignancies (lymphomas).3-6 Of note, our patient had a history of histoplasmosis and autoimmune hemolytic anemia. The initial clinical presentation in our patient was consistent with renal calculi or pyelonephritis. However, her diagnosis of CVID and her abnormal presentation necessitated further evaluation. “Red flags” in this presentation included recent history of pain in the hip and thigh, questionable urinalysis findings with lower abdominal pain, significant discomfort and guarding on abdominal exam, renal ultrasound without clear signs of inflammation, and the presence of an abnormal mass on ultrasound. Abdominal and pelvic CT expedited diagnosis of and therapy for this neoplastic etiology. While lymphadenopathy is very common in CVID, when new nodes appear and persist, biopsy may be required. This is illustrated in our case. There are limited data looking at children with CVID and their risk of secondary malignancy. In one case series involving 32 children with primary CVID, 4 children developed malignancy during the 2-year study period: 2 had Hodgkin’s disease, 1 had non-Hodgkin’s lymphoma, and 1 patient had Burkett’s lymphoma.7 In a larger observational study that enrolled children and adults (age = 3-79 years), 19 (7.7%) of the individuals developed non-Hodgkin’s lymphoma. Another 3 individuals had Hodgkin’s disease and 1 had Waldenstrom’s macroglobulinemia.3 This study also noted that lymphoma was more common in women. In adult patients with CVID, the risk of developing lymphoma is between 1.4% and 7%.8 In a patient with CVID, the clinician must not only
It is estimated that 12% to 18% of children in the United States live with a chronic condition,9 including immune deficiencies, which may make them ill intermittently and other times function very normally. For the primary care provider (PCP), this creates a challenging situation. The PCP must always consider the chronic condition when treating what may seem like routine, common complaints. PCPs are often required to evaluate and treat children and adolescents with back pain. Conservative therapy and a watchful waiting approach will be adequate in most cases; however, a broad differential and a high index of suspicion will aid practitioners in properly caring for these patients with chronic diseases. Red flag signs should be carefully screened for and each patient evaluated further if abnormal findings arise. Having a good working relationship with the patient, their family, and their specialist will also enable the PCP to know when a seemingly common complaint needs further evaluation. A working knowledge of the chronic condition and possible associated complications is also imperative. Keeping a copy of current guidelines for treatment or a review article of the chronic condition in the patients chart for easy reference is helpful when caring for uncommon conditions such as CVID. Declaration of Conflicting Interests The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding The author(s) received no financial support for the research, authorship, and/or publication of this article.
References 1. Fasth A. Primary immunodeficiency disorders in Sweden: cases among children, 1974-1979. J Clin Immunol. 1982;2:86-92. 2. Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immundodeficiencies. representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol. 1999;93:190-197. 3. Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological festures of 248 patients. Clin Immunol. 1999;92:34-48. 4. Washington K, Stenzel TT, Buckley RH, Gottfried MR. Gastrointestinal pathology in patients with common
Downloaded from cpj.sagepub.com at UCSF LIBRARY & CKM on June 12, 2015
200
Clinical Pediatrics 53(2)
variable immunodeficiency and X-linked agammaglobulinemia. Am J Pathol. 1996;20:1240-1252. 5. Touw CM, van de Ven AA, de Jong PA, et al. Detection of pulmonary complications in common variable immunodeficiency. Pediatr Allergy Immunol. 2010;21:793805. 6. Boileau J, Mouillot G, Gérard L, et al; DEFI Study Group. Autoimmunity in common variable immunodeficiency: correlation with lymphocyte phenotype in the French DEFI study. J Autoimmun. 2011;36:25-32.
7. Ogershok PR, Hogan M, Welch JR, Corder WT, Wilson NW. Spectrum of illness in pediatric common variable immunodeficiency. Ann Allergy Asthma Immunol. 2006;97:653-656. 8. Cunningham-Rundles C, Cooper DL, Duffy TP, Strauchen J. Lymphomas of mucosal-associated lymphoid tissue in common variable immunodeficiency. Am J Hematol. 2002;69:171-178. 9. Newacheck PW, Taylor WR. Childhood chronic illness: prevalence, severity, and impact. Am J Publis Health. 1992;82:364-371.
Downloaded from cpj.sagepub.com at UCSF LIBRARY & CKM on June 12, 2015
research-article2013
CPJXXX10.1177/0009922813512179Clinical PediatricsMcHenry et al
Resident Rounds
Back Pain in a Patient With Common Variable Immunodeficiency
Clinical Pediatrics 2014, Vol. 53(2) 198–200 © The Author(s) 2013 Reprints and permissions: sagepub.com/journalsPermissions.nav DOI: 10.1177/0009922813512179 cpj.sagepub.com
Megan S. McHenry, MD1, Ashley R. Deschamp, MD1, and Theresa M. Rohr-Kirchgraber, MD1 Case Report A 16-year-old white female with a history of common variable immunodeficiency (CVID) presented to the emergency department with back pain and dysuria. Her symptoms started 1 month prior to presentation with clear vaginal discharge and erythema of the labia bilaterally. She was diagnosed with a nonspecific vaginitis, completed a course of amoxicillin, and the discharge and erythema resolved. The day prior to presentation, the patient had acute onset of left-sided back pain that radiated to the left lower abdomen. The pain was sharp without alleviating factors. She denied fevers, urinary frequency or urgency, as well as sexual activity or vaginal discharge. A few hours later, she had acute onset of nausea, vomiting, and noted to have decreased urine output. Her past medical history was significant for CVID with a history of associated meningitis and histoplasmosis, and autoimmune hemolytic anemia. For treatment, she was receiving monthly infusions of intravenous immunoglobulin. Three months prior to admission, an evaluation for right hip and thigh pain included hip and lumbar spine x-rays and computed tomography (CT) of the lumbar spine, which were negative, and the pain spontaneously resolved. Review of systems was otherwise negative, and she was currently menstruating. On physical exam, the patient was in notable pain as she was shifting in bed. Vital signs were significant for tachycardia and hypertension (heart rate = 100 beats/ min, blood pressure = 136/90 mm Hg). She had leftsided costovertebral tenderness, voluntary guarding, and tenderness in the left lower quadrant of the abdomen, with no rebound or rigidity, and no right-sided abdominal findings. Complete blood count, basic metabolic panel, urinalysis, urine culture, urine pregnancy test, and chlamydia and gonorrhea urine polymerase chain reaction were done. The blood count was significant for a white blood cell count of 14 000/µL with a normal differential. The basic metabolic panel was normal. Urine pregnancy test was negative. Urinalysis was significant for red blood cells and hemoglobin along with leukocyte esterase. Renal bladder ultrasound showed a soft tissue lesion superficial to the bladder, with vascular flow, and deep
Figure 1. Large pelvic mass anterior to bladder (arrow) with multiple involved lymph nodes.
to the subcutaneous fat of uncertain etiology. She was admitted with the working diagnosis of pyelonephritis and required significant pain medications overnight.
Hospital Course The next day, she remained afebrile and her pain seemed out of proportion to the physical exam. To further evaluate the lesion noted on ultrasound, an abdominal and pelvic CT with contrast was performed (Figure 1). The CT revealed a large pelvic mass which appeared to arise from the right lateral rectus muscle and extended up and around the left side of the bladder. Multiple intraabdominal lymph nodes were involved. Malignancy was suspected, and a core needle biopsy of the mass was performed. Pathology showed diffuse large B-cell lymphoma. She started on chemotherapy and once her pain was adequately controlled on oral medications she was able to be discharged home to return for additional chemotherapy treatments in the future. 1
Indiana University School of Medicine, Indianapolis, IN, USA
Corresponding Author: Megan McHenry, Riley Hospital for Children, Pediatric Education, 702 Barnhill Drive, Indianapolis, IN 46202, USA. Email: [email protected]
Downloaded from cpj.sagepub.com at UCSF LIBRARY & CKM on June 12, 2015
199
McHenry et al
Final Diagnosis
consider infectious etiologies but malignancies common to this population as well.
Diffuse large B-cell lymphoma.
Conclusion
Discussion Common variable immunodeficiency is the most common primary antibody deficiency syndrome, with a suggested prevalence of 1 per 50 000.1 It involves immune dysfunction of B and T lymphocytes and dendritic cells, and its defined by the following criteria: age-specific reductions in serum concentration of IgG in combination with low levels of IgA and/or IgM, presence of B cells, poor or absent response to immunizations, and an absence of any other immunodeficiency state.2 The clinical spectrum of CVID is broad, and it may result in a variety of medical conditions. Some examples of its manifestations include lung disease (recurrent pneumonias, granulomatous disease, and bronchioestasis), gastrointestinal issues (diarrhea, malabsorption, and weight loss), autoimmune diseases (anemia, thrombocytopenia, rheumatoid arthritis), and malignancies (lymphomas).3-6 Of note, our patient had a history of histoplasmosis and autoimmune hemolytic anemia. The initial clinical presentation in our patient was consistent with renal calculi or pyelonephritis. However, her diagnosis of CVID and her abnormal presentation necessitated further evaluation. “Red flags” in this presentation included recent history of pain in the hip and thigh, questionable urinalysis findings with lower abdominal pain, significant discomfort and guarding on abdominal exam, renal ultrasound without clear signs of inflammation, and the presence of an abnormal mass on ultrasound. Abdominal and pelvic CT expedited diagnosis of and therapy for this neoplastic etiology. While lymphadenopathy is very common in CVID, when new nodes appear and persist, biopsy may be required. This is illustrated in our case. There are limited data looking at children with CVID and their risk of secondary malignancy. In one case series involving 32 children with primary CVID, 4 children developed malignancy during the 2-year study period: 2 had Hodgkin’s disease, 1 had non-Hodgkin’s lymphoma, and 1 patient had Burkett’s lymphoma.7 In a larger observational study that enrolled children and adults (age = 3-79 years), 19 (7.7%) of the individuals developed non-Hodgkin’s lymphoma. Another 3 individuals had Hodgkin’s disease and 1 had Waldenstrom’s macroglobulinemia.3 This study also noted that lymphoma was more common in women. In adult patients with CVID, the risk of developing lymphoma is between 1.4% and 7%.8 In a patient with CVID, the clinician must not only
It is estimated that 12% to 18% of children in the United States live with a chronic condition,9 including immune deficiencies, which may make them ill intermittently and other times function very normally. For the primary care provider (PCP), this creates a challenging situation. The PCP must always consider the chronic condition when treating what may seem like routine, common complaints. PCPs are often required to evaluate and treat children and adolescents with back pain. Conservative therapy and a watchful waiting approach will be adequate in most cases; however, a broad differential and a high index of suspicion will aid practitioners in properly caring for these patients with chronic diseases. Red flag signs should be carefully screened for and each patient evaluated further if abnormal findings arise. Having a good working relationship with the patient, their family, and their specialist will also enable the PCP to know when a seemingly common complaint needs further evaluation. A working knowledge of the chronic condition and possible associated complications is also imperative. Keeping a copy of current guidelines for treatment or a review article of the chronic condition in the patients chart for easy reference is helpful when caring for uncommon conditions such as CVID. Declaration of Conflicting Interests The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding The author(s) received no financial support for the research, authorship, and/or publication of this article.
References 1. Fasth A. Primary immunodeficiency disorders in Sweden: cases among children, 1974-1979. J Clin Immunol. 1982;2:86-92. 2. Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immundodeficiencies. representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol. 1999;93:190-197. 3. Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological festures of 248 patients. Clin Immunol. 1999;92:34-48. 4. Washington K, Stenzel TT, Buckley RH, Gottfried MR. Gastrointestinal pathology in patients with common
Downloaded from cpj.sagepub.com at UCSF LIBRARY & CKM on June 12, 2015
200
Clinical Pediatrics 53(2)
variable immunodeficiency and X-linked agammaglobulinemia. Am J Pathol. 1996;20:1240-1252. 5. Touw CM, van de Ven AA, de Jong PA, et al. Detection of pulmonary complications in common variable immunodeficiency. Pediatr Allergy Immunol. 2010;21:793805. 6. Boileau J, Mouillot G, Gérard L, et al; DEFI Study Group. Autoimmunity in common variable immunodeficiency: correlation with lymphocyte phenotype in the French DEFI study. J Autoimmun. 2011;36:25-32.
7. Ogershok PR, Hogan M, Welch JR, Corder WT, Wilson NW. Spectrum of illness in pediatric common variable immunodeficiency. Ann Allergy Asthma Immunol. 2006;97:653-656. 8. Cunningham-Rundles C, Cooper DL, Duffy TP, Strauchen J. Lymphomas of mucosal-associated lymphoid tissue in common variable immunodeficiency. Am J Hematol. 2002;69:171-178. 9. Newacheck PW, Taylor WR. Childhood chronic illness: prevalence, severity, and impact. Am J Publis Health. 1992;82:364-371.
Downloaded from cpj.sagepub.com at UCSF LIBRARY & CKM on June 12, 2015
