Infantile Systemic Lupus Erythematosus with Cerebral Calcification and Delayed Development: Correspondence

  • J. B. Ghosh



1. Garg T, Sanke S, Chander R, Agarwal S, Ahmed R. Infantile systemic lupus erythematosus with cerebral calcification and delayed development. Indian J Pediatr. 2018;85:394–5.

2. Susanne MB, Earl DS. Systemic lupus erythematosus. Pediatr Clin N Am. 2005;52:443–67.

3. Liu H,Ozaki K, Matsuzaki Y, et al. Suppression of hematopoesis by IgG autoantibodies from patients with systemic lupus erythematosus (SLE). Clin Exp Immunol. 1995;100:480–5.

4. Papmueller PH, Lindsley CB. Mixed connective tissue disease and undifferentiated connective tissue disease. In: Petty RE, Laxer RM, Lindsley CB, Wedderburn LR, editors. Textbook of Pediatric Rheumatology, 7th ed. Philadelphia: Elsevier; 2016. p. 418–26.

Author’s Reply

To the Editor: Mixed connective tissue disease (MCTD) has been a topic of debate since ages. Few authors consider it to be a distinct clinical entity, while few consider it be an early and unspecific phase of an evolving, more distinct connective tissue disease (CTD).

It is often difficult to differentiate MCTD patients from SLE, systemic sclerosis (SSc) or rheumatoid arthritis (RA) as many patients who have anti-U1-RNP antibodies also satisfy the criteria for SLE or SSc during their clinical course as well as there can be shift of symptoms from MCTD to true SLE. To help the clinicians from this confusion, various criterias have been developed for MCTD, namely the Sharp criteria (1987), the Alarcón-Segovia criteria (1987), Kasukawa criteria (1987), and Kahn criteria (1991) [1–4]. The obligatory feature in all these criterias is positivity for U1-RNP antibodies. However, it is also clearly said that presence of anti-smith antibody rules out MCTD [5]. The patient as described in our case report “Infantile systemic lupus erythematosus with cerebral calcification and delayed development” published in May issue of IJP [6], had high titres of anti-smith antibody (4+). And also, she had positive anti ds-DNA antibodies (100 IU/ml, by ELISA). The presence of these two antibodies strongly supports the diagnosis of SLE, rather than MCTD.

The most common clinical features of MCTD as described in literature are polyarthritis, Raynaud’s phenomena (RP), sclerodactyly, swollen hands, muscle disorders and esophageal dysmotility. Alopecia, malar rash, lymphadenopathy or kidney damage are less common but can be present [7]. Our patient had malar rash, photosensitivity and angiomatous skin lesions. There was no history of joint pains, respiratory distress, burning micturition/frothy urine or seizures. Thus, the important clinical features which could help in fulfilling the criteria of MCTD like RP, synovitis, myositis, hand edema were clearly lacking in the patient. Also, our patient did not have any features of dermatomyositis (proximal muscle weakness, heliotrope rash, gottrons papules) or systemic sclerosis (binding down of skin, sclerodactly).

Coming to the investigations, the total leucocyte count was 6000 cells/cumm. She was worked up for systemic involvement. However, her echocardiography, muscle enzymes, ultrasound of the abdomen, urine routine microscopy, electroencephalogram and complement levels were within normal limits. Her 24 h urinary protein was 0.082 g/24 h (normal 0.04–0.15 g/24 h). We did not find any indication for getting the renal biopsy done. All the investigations were not mentioned due to word limit.

Trigeminal neuropathy is the only neurological complication included in any of the MCTD criteria sets and probably the most common nervous system problem encountered in the disease. Neuropsychiatric manifestations that are usually observed in SLE and other central nervous complications appear to be very rare in MCTD [8].

Thus the diagnosis of MCTD can be considered in an anti-RNP-positive patient presenting with Raynaud’s phenomenon, diffuse hand edema (“puffy hands”), and at least two of the following features: arthritis, myositis, leukopenia, esophageal dysmotility, pleuritis, pericarditis, interstitial lung disease (ILD), or pulmonary hypertension (PH). These features were lacking in our patient.

In pediatric patients the incidence of SLE is estimated to be 0.36–0.9/100000 children, with a larger prevalence in girls than in boys (approximately 3:1 in children under 12 and 10:1 in older children) [9]. The age at the disease onset ranged from 6 wk to 11 mo. Our patient fulfilled 8 criteria of the systemic lupus international collaborating clinics criteria (SLICC) (malar rash with photosensitivity, alopecia, neurological features, hemolytic anemia, thrombocytopenia, positive ANA, dsDNA and anti-smith antibody) making the diagnosis of SLE clear. Hence, SLE was kept as the final diagnosis in our patient.

Sarita Sanke

Department of Dermatology & S.T.D, Lady Hardinge Medical College & Associated Hospitals, Shaheed Bhagat Singh Marg, New Delhi, India. E-mail:


1. Alarcón-Segovia D, Villareal M. Classification and diagnostic criteria for mixed connective tissue disease. In: Kasukawa R, Sharp GC, editors. Mixed Connective Tissue Disease and Antinuclear Antibodies. Amsterdam: Elsevier; 1987. p. 33–40.

2. Kasukawa R, Tojo T, Miyawaki S. Preliminary diagnostic criteria for classification of mixed connective tissue disease. In: Kasukawa R, Sharp G, editors. Mixed Connective Tissue Disease and Antinuclear Antibodies. Amsterdam: Elsevier; 1987. p. 41–7.

3. Kahn MF, Appelboom T. Syndrom de Sharp. In: Kahn MF, Peltier AP, Meyer O, Piette JC, editors. Les Maladies Systemiques, 3rd ed. Paris: Flammarion; 1991. p. 545–56.

4. Sharp GC. Diagnostic criteria for classification of MCTD. In: Kasukawa R, Sharp GC, editors. Mixed Connective Tissue Diseases and Antinuclear Antibodies. Amsterdam: Elsevier; 1987. p. 23–32.

5. Ortega-Hernandez OD, Shoenfeld Y. Mixed connective tissue disease: an overview of clinical manifestations, diagnosis and treatment. Best Pract Res Clin Rheumatol. 2012;26:61–72.

6. Garg T, Sanke S, Chander R, Agarwal S, Ahmed R. Infantile systemic lupus erythematosus with cerebral calcification and delayed development. Indian J Pediatr. 2018;85:394–5.

7. Sharp GC, Irvin WS, May CM, et al. Association of antibodies to ribonucleoprotein and Sm antigens with mixed connective-tissue disease, systemic lupus erythematosus and other rheumatic diseases. New Engl J Med. 1976;295:1149–54.

8. Gunnarsson R, Hetlevik SO, Lilleby V, Molberg O. Mixed connective tissue disease. Best Pract Res Clin Rheumatol. 2016;30:95–111.

9. Faller G, Thomson PD, Kala UK, et al. Demographics and presenting clinical features of childhood systemic lupus erythematosus. S Afr Med J. 2005;95:424–7.

Copyright information

© Dr. K C Chaudhuri Foundation 2018

Authors and Affiliations

  1. 1.Department of PediatricsI.P.G.M.E.R & S.S.K.M HospitalKolkataIndia

Personalised recommendations