Central nervous system involvement at the onset of systemic sclerosis

A rare clinical case of a 23-year old patient with central nervous system damage at the onset of systemic sclerosis at the age of 14 is presented. The patient was born with cerebral damage which was taken as a reason of the neurological manifestations that developed long later (epileptic attacks at 14 years of age, autism at 17 years of age). At the clinical examination diffuse asymmetric scleroderma as face and hand teleangiectasias, chest hyper pigmentation and shin skin hyper pigmentation and hardening were present. A characteristic look with reduced mimics, significant jaw movement limitation, tongue mobility limitation (patient was not able to touch the palate with the tongue) were also present. Patient had swollen fingers with limited finger motions, reduced hand muscular strength due to sclerodactyly. A shadow in the right lung middle lobe on the chest X-ray was found. According to physical examination results and laboratory data the following diagnosis was set up: «Juvenile systemic sclerosis, chronic form with slow progression, spreading stage: leg induration, sclerodactyly, chest hyper pigmentation, face teleangiectasias, basal pneumosclerosis, myocarditis, myocardiosclerosis, glomerulonephritis, esophageal achalasia, hepatitis, autism, epileptic attacks, polyarthritis, left elbow periarticular calcinosis, complicated relapsing aspiration pneumonia». The characteristical features of this case are the atypical clinical course, appearance of the diagnostic markers after 8 years of the disease with multisystemic involvement of internal organs, skin and joints. Because of the late start of the corticosteroid treatment, relapsing aspiration pneumonia, low corticosteroid treatment compliance the patient has succumbed.

systemic sclerosis, central nervous system involvement, autism, rare diseases, diagnostic markers