Juvenile Scleroderma with Isolated CNS Manifestations: Difficulties in Diagnosis and Possible Treatment Plans

Aims: Juvenile scleroderma with isolated CNS manifestations is a rare autoimmune disease. Correct diagnosis is often delayed, evidence-based treatment plans do not exist, and they are currently based on case series. Major clinical symptoms are seizures, paresthesia, and neuropsychological dysfunction.

Case Series: We present five cases of juvenile scleroderma with isolated CNS manifestation. Either localized or systemic forms of scleroderma may show central nervous symptoms, isolated or in combination with skin, eye, or internal organ abnormalities. Main clinical CNS symptoms in our series were a therapeutically challenging epilepsy, optic atrophy, and paresthesia. Correct diagnosis was difficult to establish because of the negative results of common autoantibodies, different patterns in MRI studies of the brain, and the lack of skin manifestation or abnormalities in internal organs. In case of suspicion, attendant Uveitis should be excluded just as optic atrophy. Electrophysiological studies revealed subclinical abnormalities. In our series, we could detect neuropsychological abnormalities, especially in attention and executive functions. In accordance to existing literature, a possible diagnostic algorithm was developed.

Therapy of juvenile scleroderma is challenging and only based on case reports in literature. In 2012, a European consensus plan for treatment of juvenile scleroderma was proposed by the Childhood Arthritis and Rheumatology Research Alliance (CARRA). Preliminary results of a treatment combination of steroids and Methotrexate will be presented.

Conclusion: Juvenile Scleroderma with isolated CNS manifestation offers a great diagnostic and therapeutic challenge. Further studies on possible diagnostic biomarkers and therapeutic outcome are absolutely essential.

Keywords: encephalitis, juvenile scleroderma, CNS, autoimmune disease, parry, Romberg.