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[A case of Fahr's disease associated with juvenile rheumatoid arthritis]
T Harada1, F Ishizaki, T Ohshita
1Department of Neurology, Hiroshima Prefectural Hospital, Japan.
Insights
This study reports a rare case of Fahr's disease, a type of idiopathic intracerebral calcification, co-occurring with juvenile rheumatoid arthritis in a 15-year-old male presenting with gait disturbance.
Area of Science:
- Neurology
- Rheumatology
- Genetics
Background:
- Fahr's disease, characterized by idiopathic intracerebral calcification, is a rare neurological disorder.
- Juvenile rheumatoid arthritis is a chronic autoimmune disease affecting children.
- The co-occurrence of these conditions is exceptionally rare, necessitating detailed case study.
Observation:
- A 15-year-old male presented with progressive gait disturbance.
- Clinical manifestations included juvenile rheumatoid arthritis symptoms (joint pain, stiffness, Raynaud phenomenon) and neurological signs (mild mental retardation, pyramidal tract signs).
- Congenital anomalies such as epicanthus and high-arched palate were noted.
Findings:
- Laboratory results revealed elevated inflammatory markers (ESR, CRP, RA) and antinuclear antibody, consistent with autoimmune activity.
- Serum calcium, phosphorus, and parathyroid hormone levels were normal, ruling out common metabolic causes of calcification.
- The Ellsworth-Howard test was positive, suggesting potential parathyroid dysfunction, though other endocrine and infectious causes were excluded.
Implications:
- This case highlights a potential, albeit rare, association between Fahr's disease and juvenile rheumatoid arthritis.
- Understanding such associations can improve diagnostic approaches for complex cases involving neurological and rheumatological symptoms.
- Further research may elucidate shared pathophysiological mechanisms or genetic predispositions.
Abstract:
We studied a case of Fahr's disease type idiopathic intracerebral calcification (Fahr's disease) associated with juvenile rheumatoid arthritis. The patient was a 15-year-old male with a chief complaint of gait disturbance. His family members had no similar signs and symptoms. His parents had no consanguinity. He was born with the normal perinatal course at 1967. He had repeated episodes of convulsive attacks during fever elevation from 2 years and 8 months to 9 years of age. Morning stiffness of bilateral hands, and pernio in the auricles, fingers, planta, and toes had occurred in every winter, since 6 years old. Swelling and pain of the bilateral knee and foot joints appeared, making ambulation difficult in 1983 (15 years old), and the patient was admitted to our hospital in July, the same year. On admission, congenital anomalies such as epicanthus and high-arched palate were noted, and swelling, deformation and contracture of limb joints, and Raynaud phenomenon were shown. His ocular fundus showed no arteriosclerotic change. He didn't have Albright's sign. Mild mental retardation and bilateral pyramidal tract signs were noted, but extrapyramidal tract and cerebellar signs, and sensory disturbance were absent. Laboratory findings exhibited markedly elevated ESR, positive CRP, RA, and antinuclear antibody. The levels of serum Ca, P, alkaline phosphatase and parathyroid hormone were normal. Peripheral blood study showed microcytic and hypochromic anemia. Anti-DNA antibody was negative. Ellsworth-Howard test was positive. Elevated antibody titer to toxoplasma, rubella virus, herpes simplex virus and cytomegalovirus were not proven. He had no chromosomal change.(ABSTRACT TRUNCATED AT 250 WORDS)