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Year : 2019  |  Volume : 22  |  Issue : 12  |  Page : 1781-1784

Coexistence of unusual and distinctive initial manifestations of severe systemic lupus erythematosus: A child's case, presenting as adrenal insufficiency associated with autoimmune polyglandular syndrome

Department of Pediatric Endocrinology, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey

Date of Submission26-Dec-2018
Date of Acceptance18-Jul-2019
Date of Web Publication3-Dec-2019

Correspondence Address:
Dr. M Karaoglan
Division of Pediatric Endocrinology of Medical Faculty of Gaziantep, Sahinbey, Gaziantep
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/njcp.njcp_667_18

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The involvement of multiple endocrine organs is rarely identified as initial manifestations of systemic lupus erythematosus (SLE) and autoimmune polyglandular syndrome (APS) in infancy. Childhood SLE tends to present with more severe clinical symptoms at an early age and with a set of unexpected findings. In the literature, the case reports of children presenting with SLE and APS components at the same time are extremely rare. Adrenal insufficiency may be overlooked due to mild clinical findings in later periods, except for neonates characterized by marked salt depletion and ambiguous genitalia signs. Moreover, adrenal insufficiency as an initial symptom in childhood is quite unusual as a component of SLE-associated APS. This report describes the overlap of unexpected, unusual, and severe clinical findings in an infant with APS with a comorbidity of SLE, where the involvement of multiple endocrine organs coexists with multiple serious clinical manifestations from the beginning.

Keywords: Adrenal insufficiency, autoimmune polyglandular syndrome, childhood systemic lupus erythematosus

How to cite this article:
Karaoglan M. Coexistence of unusual and distinctive initial manifestations of severe systemic lupus erythematosus: A child's case, presenting as adrenal insufficiency associated with autoimmune polyglandular syndrome. Niger J Clin Pract 2019;22:1781-4

How to cite this URL:
Karaoglan M. Coexistence of unusual and distinctive initial manifestations of severe systemic lupus erythematosus: A child's case, presenting as adrenal insufficiency associated with autoimmune polyglandular syndrome. Niger J Clin Pract [serial online] 2019 [cited 2022 Sep 29];22:1781-4. Available from:

   Introduction Top

Although initial manifestations of childhood systemic lupus erythematosus (SLE) cases are unusual, unexpected, and diverse, the involvement of multiple specific endocrine organs is extremely rare.[1]

The severity of SLE symptoms tends to increase as the age of onset decreases. Infantile SLE presents more severely than it does in later childhood.[2] The manifestations of autoimmune polyglandular syndrome (APS) usually do not appear at the same time. There are long intervals between the occurrence of the manifestations.[3] Specific endocrine involvement may be associated with both SLE and APS. Although adrenal insufficiency is a manifestation of both disorders, it is critical to evaluate the cases in this regard as it can lead to very serious clinical outcomes.[4] This report describes the infant with SLE-associated APS, who presented with the involvement of multiple endocrine organs and severe systemic involvement as initial manifestations.

   Case Report Top

A 2.5-year-old boy diagnosed with adrenal insufficiency presented with restlessness, vomiting, diarrhea, fatigue, abdominal distension, and abdominal pain. It was reported that diarrhea and vomiting were additional symptoms as well as fatigue for the preceding three days. When diarrhea and vomiting increased along with abdominal distention and pain and severe fluid-electrolyte loss, the patient was referred to our emergency unit. He was diagnosed with adrenal insufficiency at the Regional Children's Hospital 8 months ago and oral hydrocortisone was started. However, the treatment was not administered regularly and the medicine had not been taken for the preceding 2 weeks. It was noted that he had no other known systemic diseases and that there was a consanguineous marriage between the parents.

On physical examination, the patient looked severely ill. He was sluggish, restless, and apathetic. His body weight was 10.8 kg (3–10 p), height was 84 cm (3–10 p), and body temperature was 37.3°C. Heart rates were measured between 148–165/min in the early 8 h period. The blood pressure was 80/45 mm/Hg. There were signs of severe dehydration. The eyeballs looked sunken, the mucosa of the mouth was dry, and he had poor skin turgor. There were no skin lesions. No lymphadenopathy was identified. The chest was clinically clear. The heart auscultation findings were normal. The abdomen was slightly distended with no tenderness. The liver edge is palpable about 3 cm below the right costal margin. On urogenital examination, the stretched penis length was normal and the testes were in the scrotum. Joint swelling or tenderness was not found. In neurological evaluation, the patient was normal according to his motor-mental development age. Cranial nerve examination results were normal.

In the laboratory tests, the following values are identified: Na 126 mEq/L, K 5.6 mEq/L, glucose 102 mg/dl, AST 72 U/L (14–50), and ALT 86 U/L (10–65). Platelet count was 58 × 109/μL. There were no hematuria and proteinuria on urine examination. X-ray and abdominal ultrasound findings were normal. The hormonal evaluations are ACTH 209 pg/mL (15-65) and cortisol 123 nmol/l (100–535). The patient was given fluid replacement therapy for fluid-electrolyte loss developing secondary to adrenal insufficiency. The patient was started on a high dose of (100 ug/m2/day) hydrocortisone and mineralocorticoid taken orally. In line with these findings, he was admitted to the pediatric unit with the presumptive diagnoses of hepatitis or hematological malignancy. Viral hepatitis markers were negative. Bone marrow analysis results to exclude hematological malignancies were normal. Adrenal insufficiency was confirmed based on the following clinical and laboratory findings. Adrenocorticotropic hormone (ACTH) stimulation test could not be performed. Instead of the ACTH stimulation test, Bazal cortisol/ACTH ratio was applied to define adrenal insufficiency.[5]

During the follow-up, on day three of his stay in the hospital, the patient suddenly showed symptoms of high fever, shortness of breath, dyspnea, tachypnea, tachycardia, and generalized convulsion. Physical examination revealed photosensitivity, diffuse rales, deep heart sounds, and distention in the abdomen and swelling in the bilateral knee joint. Posteroanterior (PA) lung radiography [Figure 1] and echocardiography revealed pleural and pericardial effusion and abdominal ultrasound detected widespread peritoneal ascites. The laboratory investigations revealed the following findings: ALT 155 U/L, Ca 6.5 mg/dl, P 6.7 mg/dl, vitamin D 23 ng/mL, and parathormone 4.1 pg/ml (15–56). The erythrocyte sedimentation rate increased to 65 mm/h. During the ophthalmology and orthopedic consultation, the presence of optic atrophy secondary to vasculitis and arthritis was reported. Following the development of cardiac tamponade on the following day, emergency pericardiocentesis was applied to the patient and a drainage tube was inserted. The patient developed polydipsia and polyuria on day 6. Lab tests revealed the following: Hematuria, urine density 1001, serum and urine Na 148–8 mEq/l, and serum and urine osmolality 312–40 mOsm/kg × H2O. On the basis of these findings, he was diagnosed with diabetes insipidus. With these newly developed symptoms [Table 1], the patient was suspected of having primarily SLE, along with collagen tissue disorders and APS. In advanced tests for a differential diagnosis and other possible secondary autoimmune disorders, the following values were obtained: ANA 3.2 U/ml (0–1) and anti-ds DNA 97.3 U/mL (0–20). P-antineutrophil cytoplasmic antibody (P-ANCA) immunofluorescence assay (IFA) was positive. Antiphospholipid antibody was negative. C3 0.4 g/l (0.9–1.84) was at low levels. Lupus anticoagulant was negative. Antithyroid peroxidase and antithyroglobulin antibodies were positive. A thyroid ultrasound was compatible with Hashimoto disease. Cranial magnetic resonance imaging (MRI) revealed vasculitis [Figure 2]. A renal biopsy was performed. Histopathological findings were compatible with SLE nephritis Class I. A diagnosis was made with SLE according to the revised criteria of American College of Rheumatology on day 8 of admission.[6] Six of eleven of these criteria were identified: Photosensitivity, pleuritis and pericarditis, renal involvement, hematologic disorder, immunologic disorder, and antinuclear antibody positivity. Based on these unexpected and suddenly occurring clinical and specific laboratory findings, the patient was diagnosed with SLE. The patient had the involvement of multiple organs simultaneously at onset [Table 1]. A diagnosis with APS was also made due to the involvement of multiple endocrine organs.
Figure 1: Cardiac tamponade image on chest radiogram

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Table 1: Coexistence of clinical manifestations and laboratory/imaging findings in the patient at onset

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Figure 2: Intracranial vaculitis on MRI

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Intravenous pulse methylprednisolone (15 mg/kg/day) was given to the patient for 5 days, and then the patient was given prednisolone (1–2 mg/kg/day) orally. After the steroid treatment had commenced, the patient improved dramatically within two days. Ascites and pleural and pericardial effusion disappeared. Thrombocytopenia disappeared after steroid therapy. He was discharged on day 28 of admission.

   Discussion Top

The major manifestations of type-2 APS are primary adrenal failure with autoimmune thyroiditis and/or type-1 diabetes. We described our case presenting adrenal insufficiency and autoimmune thyroiditis as type-2 APS. This case also represented a rare initial manifestations of SLE at the same time as onset resulting in a storm of manifestations in many aspects. This case involved multiple organs, which included endocrine and non endocrine organs. The involvement of hematological, gastrointestinal, pleural, pericardial, abdominal teguments, adrenal, pituitary, eyes, and thyroid was found. Central diabetes insipidus as another rare initial manifestation occurred in the patient. Many rare manifestations were reported individually as the initial manifestation, but coexistence is extremely rare in APS.[7],[8]

An association between SLE and type-2 APS has been reported in the literature in only one case being a 30-year-old woman.[4] Actually, an association of endocrine involvement and SLE is rare, but an increasing number of cases are being reported. This case revealed that SLE diagnosis should be done in APS cases with unexpected manifestations, as they represent a high index of suspicion. On the other hand, APS can occur as an unusual presentation of SLE. In many respects, the case has considerable distinctive clinical features. First, this case was young being only 2.5 years old. SLE had been rarely reported at less than 3 years old. In childhood SLE, the mean age of onset is 11–12 years.[9] Furthermore, this case was a boy, although SLE is more common in girls. It is believed that the constellation of many rare and severe manifestations was related to the child's age. Because some previous reports have stated that initial manifestations of childhood-onset SLE were varied and serious, particularly in the infantile period.[10] Although many rare initial manifestations of SLE have been reported, this is the case of a patient who presented with numerous unusual and severe initial manifestations, which co-existed simultaneously with the onset in childhood.

In conclusion, in a child aged below 3 years, initial manifestations can be protean and severe in the case of childhood SLE. Childhood-onset SLE can involve all endocrine organs. In any child patient with an autoimmune endocrine disorder associated with unexpected manifestations, SLE should be promptly screened.


A written informed consent was obtained from the patient's father.


The author would like to thank Mehmet Keskin for sharing his experience on polyglandular syndromes, Osman Baspinar for performing pericardiosynthesis, Ayşe Balat for performing renal biopsy, and Mehmet Ozkarsli for financial support for special tests.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

   References Top

Bhat RA, Khan I, Mir T, Khan I, Wani M. Systemic lupus erythematosus presenting as acute adrenal insufficiency: A rare clinical presentation. Ann Med Health Sci Res 2014;4:140-2.  Back to cited text no. 1
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Pluchinotta FR, Schiavo B, Vittadello F, Martini G, Perilongo G, Zulian F. Distinctive clinical features of pediatric systemic lupus erythematosus in three different age classes. Lupus 2007;16:550-5.  Back to cited text no. 2
Kahaly GJ. Polyglandular autoimmune syndromes. Eur J Endocrinol 161;2009:11-20.  Back to cited text no. 3
Al-Mutairy M, Malaviya AN. Systemic lupus erythematosus with polyglandular autoimmune syndrome type II: Report of an unusual case. Lupus 2001;10:445-7.  Back to cited text no. 4
Lee MK, Vasikaran S, Doery JC, Wijeratne N, Prentice D. Cortisol: ACTH ratio to test for primary hypoadrenalism: A pilot study. Postgrad Med J 2013;89:617-20.  Back to cited text no. 5
Hochberg MC. Updating the American college of rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1997;40:1725.  Back to cited text no. 6
Tekin N, Kural N, Koçak AK, Köse S. Diabetes insipidus in a pediatric patient with systemic lupus erythematosus. A case report. Turk J Pediatr 1997;39:281-4.  Back to cited text no. 7
Büyükçelik M, Keskin M, Keskin Ö, Bay A, Kılıç BD, Kor Y, et al. Autoimmune polyglandular syndrome type 3c with ectodermal dysplasia, immune deficiency and hemolytic-uremic syndrome. J Clin Res Pediatr Endocrinol 2014;6:47-50.  Back to cited text no. 8
Bader-Meunier B, Armengaud JB, Haddad E, Salomon R, Deschênes G, Koné-Paut I, et al. Initial presentation of childhood-onset systemic lupus erythematosus: A French multicenter study. J Pediatr 2005;146:648-53.  Back to cited text no. 9
Zulian F, Pluchinotta F, Martini G, Da Dalt L, Zacchello G. Severe clinical course of systemic lupus erythematosus in the year of life. Lupus 2008;17:780-6.  Back to cited text no. 10


  [Figure 1], [Figure 2]

  [Table 1]


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