Journal of Pediatric Neurosciences
: 2007  |  Volume : 2  |  Issue : 2  |  Page : 85--87

Polyarticular juvenile idiopathic arthritis associated with Fahr's syndrome

U Dundar, O Solak, I Yigit, V Kavuncu 
 Physical Medicine and Rehabilitation, Kocatepe University, Faculty of Medicine, Afyonkarahisar, Turkey

Correspondence Address:
U Dundar
Kocatepe University, Faculty of Medicine, Department of Physical Medicine and Rehabilitation, Poliklinik Binasi 03200/ Afyonkarahisar


Bilateral symmetric calcification involving striatum pallidum with or without deposits in the dentate nucleus, thalamus and white matter is commonly referred to as Fahr�SQ�s syndrome. Symptoms of the disorder may include deterioration of motor function, spasticity, spastic paralysis, dysarthria, dementia, seizures, headache and athetosis. The clinical and imaging abnormalities are restricted to the central nervous system (CNS). We report an unusual association of Fahr�SQ�s syndrome with polyarticular juvenile idiopathic arthritis in a girl.

How to cite this article:
Dundar U, Solak O, Yigit I, Kavuncu V. Polyarticular juvenile idiopathic arthritis associated with Fahr's syndrome.J Pediatr Neurosci 2007;2:85-87

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Dundar U, Solak O, Yigit I, Kavuncu V. Polyarticular juvenile idiopathic arthritis associated with Fahr's syndrome. J Pediatr Neurosci [serial online] 2007 [cited 2023 Dec 1 ];2:85-87
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Full Text

Juvenile idiopathic arthritis (JIA) is one of the most common chronic disorders in childhood and affects 1 in 1000 children. [1] Recently, the International League of Associations for Rheumatology proposed consensus criteria for the classification of childhood arthritis under the term JIA. JIA defines an arthritis developing in patients aged 16 years or younger that has no known cause. [2] Fahr's syndrome is a rare neurodegenerative syndrome that is associated with symmetric, intracerebral calcifications in the basal ganglia and adjacent parenchyma and with neuropsychological, cognitive and movement disorders. [3] The majority of the cases are incidentally detected on cranial computed tomography (CT) examination without clinical symptoms related to these findings. [4],[5] Most cases are sporadic although a few familial cases with autosomal recessive or dominant inheritance have been documented. [6] Fahr's name is associated with all forms of bilateral calcification of basal ganglia and other parts of the brain despite the fact that he was not the first to describe calcification in the brain nor did he contribute significantly to the understanding of this disorder. [7] Despite this, the more general term "Fahr's syndrome" has been applied until today to describe a variety of pathological situations of many etiologies, that occur with basal ganglia calcification (BGC) without specific characterization by neuroradiology. [8] We report an unusual association of Fahr's syndrome with polyarticular JIA in a girl.

 Case Report

A 15 year-old girl was referred to our department in February 2006 with a five year history of pain, swelling and morning stiffness in the proximal interphalangeal (PIP) joints, wrists, knees and ankles bilaterally. The most affected joints were the PIP joints and the wrists although her bilateral knees and ankles were affected during the same time course. She had a normal perinatal life span but failed to ambulate independently until the age of five years. The patient's family described lifelong poorly articulated speech, initiated at the age of three years. Her parents had no consanguinity.

On physical examination, the knees and the second, third, fourth and fifth PIP joints of both sides were found to be tender and swollen. The other joints including elbows, wrists and all metacarpophalangeal (MCP) joints were also tender. We observed boutonniere deformity on bilateral third, fourth and fifth fingers and ulnar deviation on the right hand [Figure 1]. Passive range of motion of wrists, elbows, knees, ankles, PIP and MCP joints was restricted bilaterally. Especially 20� extension limitation of the knees and 30� dorsiflexion limitation of the ankles caused difficulty in her walking. On neurological examination, flexor and extensor spasticity affecting all extremities graded between 1 and 2 according to the Modified Ashworth Scale was noted. [9] Also, dysarthria was present. Muscle strength was normal. Deep tendon reflexes of both upper and lower extremities were slightly hyperactive. The plantar responses were flexor bilaterally. Hoffman reflexes were positive. Sensory functions were intact for touch, pinprick and vibration. Other neurological examinations (other bilateral pyramidal tract, extrapyramidal tract and cerebellar signs) were normal.

Laboratory findings revealed an elevated erythrocyte sedimentation rate (ESR) (38 mm/hour), C reactive protein (CRP) (42.7 mg/l (upper range 5 mg/l)) and positive rheumatoid factor (RF) (53.7 IU/ml (upper range 20 IU/ml)). All other laboratory investigations including hemoglobin, white blood cell count, platelets, liver and kidney function tests, calcium, phosphorus, alkaline phosphatase, serum copper, 25-hydroxyvitamin D and parathyroid hormone were normal. Antinuclear antibodies were absent. Elevated antibody titers to toxoplasma, rubella virus, herpes simplex virus , HIV and cytomegalovirus were not detected. An X-ray examination of the hands showed narrowing of the metacarpophalangeal and proximal interphalangeal joints and periarticular osteopenia.

The typical clinical and radiological manifestations led to a diagnosis of polyarticular JIA . We consulted the neurology department for examination for causes of dysathria and spasticity. With the suggestion of the neurologist, a CT scan of the brain was performed. CT scan revealed symmetric, intracerebral calcifications in the putamen and globus pallidus parts of the basal ganglia and adjacent parenchyma [Figure 2]. We did not find any etiology of pathological BGC in our patient. This kind of abnormality is related with many etiologies that can be classified as inflammatory (CMV infection, rubella encephalitis, neurocysticercosis, toxoplasmosis, neurobrucellosis, tuberculosis, HIV infection), tumoral (astrocytomas), hypoxic and vascular (arteriovenous malformations calcified infarct, ischemic encephalophaty), endocrine (hypoparathyroidsm, pseuso and pseudohypoparathyroidism, hyperparathyroidism), toxic (carbon monoxide and lead intoxication, hypervitaminosis D, radiotherapy), metabolic and degenerative (senility, mithocondrial encephalopaties, leukodistrophic diseases, idiopathic familial, motor neuron disease, myotonic muscular dystrophy, carbonic anidrase deficit, biopterin deficit) and other (malabsorption, Down syndrome, lupus, tuberous sclerosis, arthrogriposis). [8],[9],[10],[11] We made the diagnosis of polyarticular JIA associated with Fahr's syndrome.

There was a delay of approximately five years in the diagnosis of polyarticular JIA. During the past five years, the patient was treated with only nonsteroidal antiinflammatory drugs and paracetamol. We started methotrexate (10 mg/week) and sulphasalazine (1.5 grams/day) after the diagnosis of JIA. Stretching exercises and range of motion exercises were applied to reestablish range of motion of affected joints and to diminish spasticity. One month later, symptoms and laboratory findings related to JIA showed dramatic improvement. ESR and CRP level decreased to normal values; 17 mm/1 st h and 3.7 mg/l respectively. Flexor and extensor spasticity of the limbs decreased to grade 1. We consulted orthopedic surgeons about the limitations in knee extension and ankle dorsiflexion. Two month later, bilateral achilloplasty and bilateral hamstring tendon relaxation operation were performed. After surgical operation and an active rehabilitation program, extension limitation of the knees and dorsiflexion limitation of the ankles improved to nearly 5�.


Prior to the widespread availability of CT scans, case reports of Fahr's syndrome were based on either skull roentgenogram or autopsy. [7] Typically, the age at onset of clinical symptoms is 30-60 years in Fahr's syndrome although it can occur at any time in childhood or adolescence. [12],[13],[14],[15] Symptoms of the disorder may include deterioration of motor function, spasticity, spastic paralysis, dysarthria, dementia, seizures, headache and athetosis. The clinical and imaging abnormalities are restricted to the CNS. [14],[16] Calcification in the brain is almost symmetrical and was seen in the dentate nucleus, basal ganglia, thalamus and centrum semiovale. Calcification elsewhere is rare. Cranial CT is readily availlable, has maximum sensitivity and allows diagnosis, contributing to early treatment of many etiologies of Fahr's syndrome. [8] The major etiologic cause is hypoparathyroidism. Obtaining serum calcium and parathormone levels should help diagnosis when CT or MRI scan of the head shows bilateral striopallidodentate calcification. [7] In our case, dysarthria, spasticity and symmetric intracerebral calcifications in the putamen and globus pallidus parts of the basal ganglia in cranial CT scans were associated with the clinical finding of polyarticular JIA. We did not find any etiology of pathological BGC in our patient by performing laboratory testing and CT scan. In our case, we made the diagnosis of Fahr's syndrome at the age of 15 years. We think that the patient was possibly affected earlier, maybe at the age of 5 or earlier, because she had a history of delayed walking and dysarthria. As mental function of the patient was normal and her complaints were just dysarthria and delayed walking, maybe the patient was considered as mild cerebral palsy and so no advanced imaging methods were performed to confirm the diagnosis.

The diagnosis of polyarticular JIA in our case was delayed for approximately five years. The delay might be due to the low socioeconomic status of the patient's family or a lack of the physician's experience in pediatric rheumatology. Due to the delay, severe deformities developed in the hands of the patient and a surgical operation of the knees and ankles was required. If we treat children with JIA with methotrexate (MTX) or other DMARDs (disease-modifying antirheumatic drugs) earlier, development of severe deformities may be prevented.

Fahr's syndrome is a very rare disorder. [7] To our knowledge, Fahr's syndrome has been described in only one child with JIA so far [17] and our case is the second one.


1Gare BA. Epidemiology. Baillieres Clin Rheumatol 1998;12:191-208.
2Petty RE, Southwood TR, Baum J, Bhettay E, Glass DN, Manners P, et al . Revision of the proposed classification criteria for juvenile idiopathic arthritis: Durban 1997. J Rheumatol 1998;25:1991-4.
3Morgante L, Trimarchi F, Benvenga S. Clinical picture: Fahr's disease. Lancet 2002;359:759.
4Forstl H, Krumm B, Eden S, Kohlmeyer K. Neurological disorders in 166 patients with basal ganglia calcification: A statistical evaluation. J Neurol 1992;239:36-8.
5Buttner A, Sachs H, Mall G, Tutsch-Bauer E, Weis S. Progressive idiopathic bilateral striato-pallido-dentate calcinosis (Fahr's disease) in a person with anabolic steroid abuse. Legal Med 2001;3:114-8.
6Smits MG, Gabreels FJ, Thijssen HO, Lam RL, Notermans SL, ter Haar BG, et al . Progressive idiopathic strio-pallido-dentate calcinosis (Fahr's disease) with autosomal recessive inheritance: Report of three siblings. Eur Neurol 1983;22:58-64
7Bala V Manyam, What is and what is not 'Fahr's disease'. Parkinsonism Related Disord 2005;11:73-80.
8Faria AV, Pereira IC, Nanni L. Computerized tomography findings in Fahr's syndrome. Arq Neuropsiquiatr 2004;62:789-92.
9Ploutz-Synder LL, Clark BC, Logan L, Turk M. Evaluation of spastic muscle in stroke survivors using magnetic resonance imaging and resistance to passive motion. Arch Phys Med Rehabil 2006;87:1636-42.
10Fukunaga T, Fujiwara S, Ueno Y, Imabayashi T, Nakagawa K, Yanagida Y, et al . Unusual calcification in brain suspected to be caused by toxoplasmosis: A report of an autopsy case. Jpn J Leg Med 1989;89:52-7.
11Esiri MM. Oppenheimer's diagnostic neuropathology: A practical manual, 2nd ed. Blackwell: Oxford; 1996.
12Konig P, Haller R. Results of a study of a family with aggregated occurrence of bilateral symmetrical basal ganglia calcinosis. Eur Arch Psychiatry Neurol Sci 1975;234:325-34.
13Lowenthal A. Striatopallidodentate calcifications. In: Vinken P, Bruyn G, Klawans H, editors. Handbook of clinical neurology. Vol 49. Elsevier Science Publishers: Amsterdam; 1986. p. 417-36.
14Ellie E, Julien J, Ferrer X. Familial idiopathic striopallidodentate calcifications. Neurology 1989;39:381-5.
15Manyam BV, Bhatt MH, Moore WD, Devleschoward AB, Anderson DR, Calne DB. Bilateral striopallidodentate calcinosis: Cerebrospinal fluid, imaging and electrophysiological studies. Ann Neurol 1992;31:379-84.
16Flint J, Goldstein LH. Familial calcification of the basal ganglia: A case report and review of the literature. Psychol Med 1992;22:581-95.
17Harada T, Ishizaki F, Ohshita T, Abe H, Yoshinaga H, Ichinose T, et al . A case of Fahr's disease associated with juvenile rheumatoid arthritis. No To Shinkei 1991;43:957-63.