The First Case Report of Preschool-Onset SS/SLE Coexisting With NMOSD of Chinese Origin

Abstract

Systemic lupus erythematosus (SLE) is an autoimmune connective tissue disease (CTD), the main features of which are multiple serum autoantibodies and extensive involvement of multiple systems. The onset age of patients varies from childhood to middle age, with nearly 1/5 in childhood. Sjogren's syndrome (SS) is also an autoimmune disease characterized by high-degree lymphocytic infiltration of exocrine glands, usually occurring in middle-aged and older women, and rarely in childhood. Neuromyelitis optica spectrum disorder (NMOSD) is an immune-mediated inflammatory demyelinating disease of the central nervous system (CNS) mainly involving the optic nerve and spinal cord. The coexistence of NMOSD and SLE and/or SS is well recognized by both neurologists and rheumatologists, but cases in children have been rarely reported. In this paper, we reported a case of a girl with onset at age 5 clinically featured by recurrent parotid gland enlargement, pancytopenia, hypocomplementemia, multiple positive serum antibodies, and cirrhosis. She was initially diagnosed with SS/SLE overlap syndrome at age 5. Four years later, the patient suffered a sudden vision loss and was examined to have positive AQP4 antibodies in serum and cerebrospinal fluid (CSF), and long segmental spinal swelling, in line with the diagnostic criteria for NMOSD. Up to now, the current patient is of the youngest onset age to develop SS/SLE coexisting with NMOSD, also with cirrhosis. It is important for clinicians to be aware of the possibility of CTDs coexisting with NMOSD in children, especially in those with positive anti-multiple autoantibodies, and to decrease the rate of missed diagnosis.

Keywords: AQP-4; Sjogren’s syndrome; child SS/SLE overlap syndrome with NMOSD; neuromyelitis optica spectrum disorder; systemic lupus erythematosus.

Figure 1

Imaging features of the patient with both systemic lupus erythematosus (SLE) and Sjogren’s syndrome (SS) when she was 5 years old. The textures of both lungs were increased and blurred, and there were small patchy shadows (A). There were 2 small foci of lymphocyte invasion in salivary gland tissue microscopically (>50/focus) after labial gland biopsy (B). (C–E) The volume of the liver was reduced, and each lobe was out of proportion, especially the right lobe. The left and caudal lobes of the liver were enlarged and the fissure was widened. The surface of the liver was not smooth, small nodular protrusions could be seen (shown by arrows), and the density of liver parenchyma was not uniform. The spleen was markedly enlarged and about 6 cm in thickness (shown by arrows).

Figure 2

Pulmonary imaging changes of the patient with systemic lupus erythematosus (SLE)/Sjogren’s syndrome (SS) and NMOSD. (A–C) In December 2019, the texture of both lungs was slightly increased and disorganized, and the diffuse distribution of high-density shadows in both lungs was rod-shaped and flaky, some of which were grid-shaped with blurred edges. The cystic transparent shadows could be seen in both upper lungs, no abnormality was observed in the hilar area of both lungs, and multiple enlarged lymph nodes could be seen in the mediastinum. After the anti-infection treatment with meropenem and teicoranin, the exudation of both lungs was significantly reduced 1 month later (D–F), while significant lung interstitial lesions still existed.

Figure 3

Neuroimaging changes of the patient with systemic lupus erythematosus (SLE)/Sjogren’s syndrome (SS) and NMOSD. (A, B) The left optic nerve was obviously smaller than the right through MRI, and there was slight swelling of the spinal cord at the levels of c2-6 (E) in December 2018 (shown by arrows). After a powerful immunosuppressive therapy, the left optic nerve was roughly the same size as the right optic nerve in October 2019 (C, D), and the swelling of c2-6 was much better than before (F).