Fahr's disease presenting with paroxysmal non-kinesigenic dyskinesia: a case report

Fahr's disease is characterized by presence of abnormal calcifications in certain areas of the brain. We report on 23-year-old man admitted to us with the episodes of paroxysmal non-kinesigenic dyskinesia. He was detected to have symmetrical intracerebral calcifications in basal ganglia, thalamus and cerebellar hemispheres, and diagnosed as sporadic Fahr's disease. Paroxysmal dyskinesia was well responded to oxcarbazepine (600 mg/day) treatment.     

A family of Fahr's disease

A family of Fahr's disease with autosomal dominant inheritance was reported 5 cases in 3 generations were affected in this family. The first patient was admitted for operation because of intracranial hematoma. No specific abnormality was found in the patients except intellectual impairment CT, however, revealed high density lesions in basal ganglion cerebellum, and cerebral white matter.     

A case of Fahr's disease associated with juvenile rheumatoid arthritis]

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)     

A case of Fahr's disease accompanied with persistent vitreous artery]

Serial imaging studies in a 16-year-old female affected by Fahr's disease accompanied with persistent vitreous artery were performed. She suffered from chronic subdural hematoma, which was re-moved at the age of 5 months. Brain CT scan performed at the age of 4 revealed calcified lesions at the corticomedullary junctions in the frontal lobes of cerebrum. Yearly repeated CT scans revealed an increasing number of the calcified lesions, which were observed at the cortico-medullary junction of cerebrum, globus pallidus, thalami and dentate nuclei of the cerebellum. Calcifications have not increased in the last 4 years. Laboratory examinations of serum and urine failed to prove any abnormalities. She also had bilateral persistent vitreous arteries. The combination of these rare two diseases may have occurred coincidentally, but there is a possibility that the capillary dysfunction played a role in the pathogenesis of two diseases.     

PET findings and neuropsychological deficits in a case of Fahr's disease.

In a case of Fahr's disease with frontal lobe type dementia and hyperkinetic-hypotone syndrome, functional changes were investigated using positron emission tomography (PET) with (18)F-fluorodeoxyglucose (FDG) as a tracer. Computed tomography showed bilateral calcifications in the putamen and globus pallidus consistent with the diagnosis of Fahr's disease and a frontally pronounced brain atrophy. In contrast, reduced glucose uptake in PET was not only confined to the areas mentioned above, but extended to the temporal and parietal cortices, bilaterally. These functional changes corresponded to the neuropsychological deficits observed, i.e. disturbed selective attention and cognitive flexibility, verbal perseverations, and declarative memory deficits. It is suggested that functional changes may precede cerebral atrophy in Fahr's disease and may reflect deficits in functional circuits, which involve both the basal ganglia and the frontal, parietal, and temporal lobes.     

Catatonia and psychosis in a case suggesting Fahr's disease

Catatonia is a manifestation of several psychiatric disorders, but may also be secondary to a systemic medical condition. Fahr's disease is characterized by radiographic calcifications of the basal ganglia. While diverse neuropsychiatric symptoms have been reported in Fahr's disease, few reports of catatonia in this condition exist. We present a case of psychosis and catatonia in a patient with Fahr's disease.     

Creutzfeldt-Jakob disease in Venezuela. A case report.

A case of Creutzfeldt-Jakob disease (CJD) in a 32 year old man is presented. The clinical picture included a rapid progressive dementia associated with ataxia, global aphasia, myoclonus and pyramidal signs, death occurred after 13 months. The diagnosis of CJD was confirmed by CT and neuropathological studies. This is the first report of CJD occurring in Venezuela.     

Subacute dementia and imaging correlates in a case of Fahr's disease

We report a case of idiopathic bilateral basal ganglia calcinosis, or Fahr's disease (FD) in a 50 year old patient who developed rapidly progressive behavioural abnormalities and severe neuropsychological impairments, but no movement disorder. Neuropsychological deficits included a severe dysexecutive syndrome, anterograde amnesia, and attentional impairment. Neuropsychiatric features comprised apathy with intermittent disinhibition, anxiety, irritability, frequent mood changes, ritualistic and antisocial behaviour, and psychosis. Fluorodeoxyglucose positron emission tomography showed a massive reduction of glucose metabolism in the basal ganglia and the frontal brain. The observed abnormalities possibly result from a disruption of frontostriatal circuits, presumably at the basal ganglia level. This case indicates that FD may cause exclusively behavioural alterations and that the associated hypometabolism in certain frontal areas is closely related to the clinical picture.     

A case of Fahr's disease presenting "diffuse neurofibrillary tangles with calcification"]

77-year-old woman presented memory disturbance, hallucination, and personality change since the summer of 1988. Laboratory findings revealed normal serum Ca, P, HS-PTH levels and Ellsworth-Howard test was intact. Neuroradiological studies disclosed calcification in the dentate nucleus, putamen, globus pallidus and thalamus. We made a diagnosis of Fahr's disease. During the follow-up period of 13 years, brain MRI showed gradual atrophy in temporal lobes. This case was characterized by the clinical and neuroradiological findings of "diffuse neurofibrillary tangles with calcification: DNTC". We discussed the relations of Fahr's disease and DNTC in the literatures. From our long time observation of this case, we suggest that Fahr's disease includes DNTC.     

Tonic-clonic seizures in a patient with primary hypoparathyroidism: a case report.

Hypoparathyroidism, a life threatening disorder, occurs when insufficient parathyroid hormone is produced to maintain extracellular calcium levels within the normal range. The acute clinical signs and symptoms of hypoparathyroidism are the same as those of hypocalcemia, ranging from tingling to intractable generalized tonic-clonic seizures; therefore, it can be mistaken for epilepsy. We report the case of a 36-year-old man who presented two tonic-clonic seizures, characterized by sudden loss of consciousness with a fall and diffuse tonic contractions and clonic jerks. At first diagnosis of epilepsy was established and therapy with valproate was commenced. In the following days, the patient presented typical signs of hypocalcemia and the diagnosis of hypoparathyroidism was made. In the 4 months follow up, antiepileptic drug therapy was reduced until suspension and calcium supplementation was initiated. We briefly review the most recent reports in the literature.