Visualisierung der symmetrischen Stammganglienverkalkung mittels räumlich hochaufgelöster suszeptibilitätsgewichteter MR-Bildgebung

Bilateral striopallidodentate calcinosis, also known as Fahr's disease, is characterized by symmetric calcifications of the basal ganglia, thalami, dentate nuclei of the cerebellum and white matter of the cerebral hemispheres. Besides the common idiopathic etiology of bilateral intracerebral calcinosis, alterations of calcium metabolism are present in rare cases, which are especially caused by hormonal dysfunction of the parathyroids. Advanced imaging techniques, such as CT and MRI, demonstrate increasing relevance regarding diagnosis of bilateral striopallidodentate calcinosis. Intracranial calcifications are routinely observed with high sensitivity by CT. On MR images calcifications exhibit different signal intensities, which depend on the stage of the disease, differences in calcium metabolism and the compound of these calcifications. Application of a new high-resolution, susceptibility-weighted MR sequence allows detailed visualization of the intracerebral calcifications in Fahr's disease. Further diagnostic methods and important aspects regarding clinical manifestation of bilateral striopallidodentate calcinosis are also discussed.     

Syndrome de Fahr : à propos de deux cas

Introduction

Fahr's syndrome is characterized by symmetrical and bilateral intracerebral calcifications, located in the basal ganglia and mostly associated with a phosphorus calcium metabolism disorder. It must be distinguished from genetic or sporadic Fahr's disease.

Observations

We report two cases of this syndrome, the first was revealed by psychotic and cognitive disorders and the other by epilepsy. In both cases, brain imaging and biology resulted in the diagnosis of Fahr's syndrome. The outcome was favorable after treatment in both cases.

Conclusion

These two observations illustrate various clinical signs of Fahr's syndrome.     

Linear Intracerebral Calcification After Depth Electrode Implantation

Summary: We report linear calcifications along the trajectories of previously implanted depth electrodes in 2 patients. A 20-year-old man and a 38-year-old woman with medically intractable complex partial seizures (CPS), underwent bilateral frontal and mesiotemporal depth electrode implantation as part of their epilepsy surgery workup. Brain computed tomography (CT) at that time was normal (except for cerebrellar atrophy in one case). One patient had a left anterotemporal lobectomy (ATL), and the other declined operation. Subsequent CT scans showed linear calcifications 1–2 cm long in the occipital lobes (unilateral in 1 and bilateral in the other) that followed the trajectories of the temporal depth electrodes. This finding remained unchanged at latest followup (2–2.5 years), and no new pathology has appeared on subsequent scans. No abnormalities of calcium metabolism were detected. Review of all available CT scans of our patients with a history of previous depth electrode implantation showed no additional similar cases. We believe this is the first report of intracerebral calcifications after depth electrode implantation.     

A case of pseudohypoparathyroidism with intracerebral calcification

Intracerebral calcifications, especially in the basal ganglia, are observed in many kinds of diseases. A 41-year-old man is reported, who suffered from an acute epidural hematoma and underwent surgery to remove the hematoma. We detected very extensive intracerebral calcification on CT. Laboratory findings revealed hypocalcemia and hyperphosphatemia. General physical examination revealed characteristics typical of pseudohypoparathyroidism. The patient was diagnosed as having pseudohypoparathyroidism type I by the Ellsworth-Howard test. Since the advent of CT, the incidence of basal ganglia calcification has increased. CT is 5 to 15 times more sensitive than skull radiography in the detection of intracerebral calcification. Although many pathological states can cause basal ganglia calcification, most of the calcifications which are recognized on CT scans are physiological. But in cases in which basal ganglia calcifications are recognized also on plain radiographs, various kinds of symptoms including ones of basal ganglia origin are often recognized, and calcifications often extend to regions other than basal ganglia, eg. cerebellum, thalamus, etc. Pseudohypoparathyroidism is a rare disease which presents hypocalcemia, some characteristic physical appearances, and dementia. It is important to decide whether further examinations are necessary or not, when basal ganglia calcification is recognized incidentally on CT scan.     

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.     

Contribution of CT scan to the diagnosis of Fahr''s syndrome

Of 7040 patients who were examined with CT scan for various reasons, 72 (1.02%) showed symmetrical intracranial calcifications. On the basis of the extent of the calcifications, the patients were divided into 3 groups of which the first (10 cases), with extensive calcifications, showed clear findings of hypoparathyroidism; the second (4 cases), with less extensive calcifications, showed borderline laboratory findings and the third (58 cases), with calcifications only in the internal part of the globus pallidus, had no relation to any disturbance of the parathyroid function. The limited percentage (4.2%) of calcifications detected by ordinary cranial X-rays was discussed as compared to those diagnosed by CT scan; this is due to the weakening of the relationship which existed in the past between hypoparathyroidism and calcifications. Patients with extensive calcifications do not seem to have a significantly higher proportion of neurological impairment (35.8%) than patients who showed limited calcifications (34.5%). On the other hand, patients with extensive calcifications showed more frequent mental disorders (50%) compared to those who showed limited calcifications (34.5%). The proportion of mental disorders is still higher in patients with dilatation of the subarachnoid spaces (56.7%) compared to those who do not show dilatation (23.8%). Finally, of the 72 patients with calcifications, 15 (20.8%) showed extrapyramidal syndrome, possibly due to calcium salt deposits in the metasynaptic dopamine receptors while 13 (18%) were taking anticonvulsant drugs which, apart from influencing the metabolism of calcium, also influence the activity of alkaline phosphatase and are involved in the creation of calcifications.     

Levetiracetam-responding paroxysmal nonkinesigenic dyskinesia

We report on a patient with 7-year history of short-lasting paroxysmal nonkinesigenic dyskinesia. The episodes occurred 100 to 125 times per day, lasted from 5 seconds to 3 minutes, and were not suppressed with sleeping, underlining the heterogeneity of phenomenology in paroxysmal dyskinesias. Neuroimaging studies showed calcifications in the basal ganglia, thalamus, brain stem, and subcortical and cerebellar regions. He was diagnosed with idiopathic hypoparathyroidism. After failure of valproate, he responded well to levetiracetam (1000 mg/d). This report revealed that intracerebral calcifications secondary to hypoparathyroidism could present as paroxysmal nonkinesigenic dyskinesia, and levetiracetam could be effective in this particular entity.     

Cerebrospinal fluid viral load is related to cortical atrophy and not to intracerebral calcifications in children with symptomatic HIV disease

The relationships between viral load in plasma and cerebrospinal fluid (CSF) and computed tomography (CT) brain scan abnormalities were studied in 39 children between 0.5 and 13 years of age with symptomatic HIV-1 disease. Quantitative RNA PCR was used to determine HIV-1 RNA levels and a semiquantitative analog rating technique was used to evaluate non-contrast CT brain scans. CSF HIV-1 RNA copy number correlated significantly with CT brain scan ratings for severity of cortical atrophy (r = 0.36; P < 0.05) but not with ratings of intracerebral calcifications (r = -12; NS). The difference between these two correlations was significant (P < 0.05). Plasma HIV-1 RNA copy number did not correlate significantly with any CT brain scan ratings or with CSF viral load (r = 0.05; NS). Severity of cortical atrophy appeared to reflect the level of viral load in the CSF, supporting the notion that active HIV-1 replication in the CNS is at least in part responsible for such brain abnormalities in children. The lack of correlation of intracerebral calcifications with other CT brain scan abnormalities as well as with CSF viral load suggests that this lesion is relatively independent and may reflect a different neuropathologic process.     

Encephalopathy with calcifications of the basal ganglia in children. A reappraisal of Fahr's syndrome with respect to 14 new cases

Calcifications of the basal ganglia are described under the heading of "Fahr's syndrome". The clinical pattern is variable and the syndrome may be sporadic or familial. This study describes a personal series of 14 cases of encephalopathy with calcification of the basal ganglia and reviews the literature cases. A four-group classification is proposed. The first group includes encephalopathy, microcephaly, dwarfism, retinal degeneration or optic atrophy, symmetrical patchy demyelination with calcifications and probable autosomal recessive inheritance. Some cases have an early onset, a rapid evolution. Others have a later onset, longer course and retinal degeneration. In the second group, the children suffer from a congenital encephalopathy or a cerebral palsy without clear deterioration, without short stature, ocular impairment or persistent CSF abnormalities. This group has not been reported in the literature. The cases do not seem to be genetic. The precise cause in unknown but a sporadic non progressive anoxo-ischemic, or viral prenatal disease is suggested. In the third group, the association of encephalopathy, microcephaly, and persistent CSF lymphocytosis, has a high recurrence rate. The pathogenesis is still a matter of dispute. The fourth group is characterized by autosomal dominant calcifications of the basal ganglia with or without neurological abnormalities. Finally calcium metabolism disorders and mitochondrial encephalomyopathy may be associated with calcifications of the basal ganglia.     

Association between coeliac disease, epilepsy and brain atrophy.

Patients with epilepsy and posterior cerebral calcifications have an increased risk of coeliac disease (CD). The occurrence of this syndrome and the overall risk of CD and epilepsy remain still poorly understood. This study presents the prevalence of CD, brain atrophy, and cerebral calcifications in patients with epilepsy of unknown aetiology. The medical records of 900 consecutive adult patients with epilepsy diagnosis were reviewed. The occurrence of CD in living patients with epilepsy of unknown aetiology (n = 199) was investigated; all patients without previously known CD were asked for serological screening for the disease and the diagnosis was verified with small bowel biopsy. The presence of occipital calcifications and brain atrophy in all available CT scans (n = 130) was evaluated. Five of 199 cases had prior history of CD. The prevalence of definite CD in the patients was 2.5% (5/199), which is significantly higher that the current prevalence of CD in our area (0.27%). Antibody testing and small bowel biopsy in positive cases failed to increase prevalence of CD. Eleven (8.5%) patients had intracerebral calcifications and 3 of them posterior calcifications; all 11 had negative screening results for CD. Four (80%) patients with definite CD had supratentorial brain atrophy compared with 33 (26%) of 125 patients without CD. Prevalence of CD was increased among patients with epilepsy of unknown aetiology, but the combination of CD, epilepsy and intracranial posterior calcifications was rare in Finnish adult epilepsy population.     

MR-imaging findings in children with Sturge-Weber syndrome

Intracranial extent and distribution of leptomeningeal angiomatosis, visualized by magnetic resonance imaging (MRI) with Gadolinium-DTPA (Gd-DTPA) enhancement, is demonstrated in four children with Sturge-Weber syndrome (SWS). Aged 7, 9, 11 and 19 months, they presented with cutaneous, neurologic and ocular symptoms at the time of MRI examination. Angiomatous alteration of the skull, atypically located and congested intracerebral and basal veins as well as intracerebral changes secondary to the leptomeningeal angiomatosis are demonstrated with T2 weighted images. Gd-DTPA enhanced T1 weighted images exhibit clearly the regional distribution of angiomatosis in the skull, meninges and within the brain. Before calcifications in children with SWS are detectable by CT, MRI is the method of choice to detect intracranial involvement. Enhancement with Gd-DTPA improves the diagnostic value of MRI, before neurological symptoms appear. Follow-up studies with Gd-DTPA enhanced MRI can be applied to recognize thrombotic changes of leptomeningeal angiomatosis as well as subsequent intracerebral impairment.     

Familial occipital calcifications, hemorrhagic strokes, leukoencephalopathy, dementia, and external carotid dysplasia

OBJECTIVE: To describe a new familial association of late-onset dementia, patchy leukoencephalopathy, intracerebral hemorrhages, bilateral occipital calcifications (BOC), and external carotid artery dysplasia (ECAD). METHODS: At age 62, the proband, who was of Spanish descent, had left temporal hemorrhage in a background of progressive mental deterioration. Neuroimaging revealed fine tram-line BOC, extensive leukoencephalopathy, and bilateral ECAD. Biologic screening for celiac disease was negative. Skin biopsy with ultrastructural study revealed heretofore unreported changes in the basal lamina of capillaries, with multilayered appearance and round-shaped microcalcifications. Of 19 next-of-kin who survived beyond 60 years of age, six had brain disorders; four of the six presented at least three components of the syndrome. The proband's mother had died at age 83 with profound dementia; one sister, who was diagnosed with dementia with BOC and leukoencephalopathy at age 67, died 2 years later from intracerebral hemorrhage; a brother had an occipital hemorrhage at age 58, at which time BOC and leukoencephalopathy were discovered; and another brother died after a minor stroke at age 70 with dementia, leukoaraiosis, BOC, and ECAD. A proband's cousin also had an unexplained ischemic stroke at age 55, but without other features of the entity. In no subject was there evidence of seizures, facial angioma, or intracranial vascular malformation, and arterial hypertension was neither constant nor severe. CONCLUSION: These clinical, neuroradiologic, and histologic features suggest a new familial cerebrovascular entity with widespread microvascular calcifications and autosomal (presumably dominant) inheritance. We suggest the acronym FOCHS-LADD, for familial occipital calcifications, hemorrhagic strokes, leukoencephalopathy, arterial dysplasia, and dementia.     

Activation of the innate immune system in murine congenital Toxoplasma encephalitis

A murine model of congenital Toxoplasma encephalitis (CTE) was established in NMRI mice following prenatal infection with a low dose of Toxoplasma gondii (DX strain). Histopathologically, the disease exhibited the key features of human CTE including foci of necrosis, intracerebral calcifications, and ventriculitis. The inflammatory response in the brain of infected animals was predominantly mediated by macrophages and granulocytes with additional participation of astrocytes. These findings indicate that the prenatal Toxoplasma infection closely parallels human CTE, but differs significantly from adult toxoplasmosis.     

Pseudohypoparathyroidism and Epilepsy: Diagnostic Value of Computerized Cranial Tomography

Computerized cranial tomograms (CCTs) unexpectedly showed bilateral symmetrical calcifications in the basal ganglia and frontal areas in two unrelated epileptic patients 12 and 13 years of age. The patients presented with a variety of seizures, some with focal features; these seizures were resistant to medication in the first case. Subsequent testing revealed hypocalcemia and other biochemical and radiologic features of pseudohypoparathyroidism, despite absence of the usual phenotypic features, tetanic symptoms, and positive family history. The CCT scan may provide the first clue to an underlying hypocalcemic disorder in an epileptic patient even when the skull X-ray is normal. Early detection of this metabolic condition by CCT scanning allows specific treatment to restore serum calcium levels to normal, which usually eliminates seizures and favors optimal cerebral functioning. Serial CCT scanning also provides a useful means for following the intracerebral calcifications, which remained unchanged after 1 and 2 years of normocalcemia in our 2 patients.     

Calcification of the basal ganglia: computerized tomography and clinical correlation

During a 1-year period, 4219 consecutive computerized tomograms (CT) were reviewed for basal ganglia calcification; 14 patients with such calcification were identified. Calcifications on CT scan were bilateral in 12 of these cases and unilateral in 2. All bilateral calcifications were symmetric. The globus pallidus was the site of calcification in 13 of the 14 patients. Bilateral dentate nucleus calcification was seen in one patient. Skull radiograms were normal in all but one. Patients had diverse symptoms that were often explained by other findings, suggesting that calcifications may be coincidental and that basal ganglia calcification may not be a nosologic entity. Disturbances of calcium metabolism were not found in these patients, minimizing the pathophysiologic significance of altered calcium metabolism and the need for extensive endocrinologic evaluation. The finding of basal ganglia calcification alone does not justify invasive diagnostic procedures. Extrapyramidal signs may be associated with basal ganglia calcification; parkinsonism associated with basal ganglia calcification differs from idiopathic parkinsonism in being resistant to levodopa therapy.     

脑出血患者精氨酸加压素与水代谢相关性研究

目的探讨高血压脑出血患者血中精氨酸加压素（AVP）含量的改变与病情、病程之间的关系,以及此量变与水代谢紊乱的相关性。方法以高血压脑出血患者为研究对象,定时定量采血。采用放射免疫法测量血中AVP浓度。精确计算出入量。动态监测电解质,以及生命体征。结果高血压脑出血患者急性期血中AVP含量显著升高。峰值位于发病后第一个24h,后逐渐降低,持续到发病第9d仍较健康对照值高。所有患者均未出现严重的水代谢紊乱。结论高血压脑出血患者血中AVP含量升高程度与出血量、病程、病情、出血部位有密切的关系。并且一定程度的升高不会引起水代谢紊乱。     

Mitochondrial encephalomyopathy. Report of a case

A typical case of mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes (MELAS) was reported. The main clinical manifestations consisted of short stature, psychomotor deterioration, sensorineural deafness, and hemiparesis. The laboratory findings disclosed abnormal lactic acid tolerance abnormal EEG, VEP, AEP, SEP, and MCV. The CT scan showed multiple intracerebral infarcts, basal ganglia calcifications, and cerebral atrophy. A muscle biopsy was performed. The frozen sections with modified gomori trichrome stain revealed ragged-red-fiber which reacted strongly positive in NADH-TR stain. The electron microscopy revealed subsarcolemmal aggregation of mitochondria of various sizes with paracrystalline inclusions, abnormally arranged cristae, and osmiophilic dense-bodies in their matrices.     

Intracerebral microdialysis and CSF hydrodynamics in idiopathic adult hydrocephalus syndrome

BACKGROUND: In idiopathic adult hydrocephalus syndrome (IAHS), a pathophysiological model of "chronic ischaemia" caused by an arteriosclerotic process in association with a CSF hydrodynamic disturbance has been proposed. OBJECTIVE: To investigate whether CSF hydrodynamic manipulation has an impact on biochemical markers related to ischaemia, brain tissue oxygen tension (PtiO(2)), and intracranial pressure. METHODS: A microdialysis catheter, a PtiO(2) probe, and an intracerebral pressure catheter were inserted into the periventricular white matter 0-7 mm from the right frontal horn in 10 patients with IAHS. A subcutaneous microdialysis probe was used as reference. Intracranial pressure and intracerebral PtiO(2) were recorded continuously. Samples were collected for analysis between 2 and 4 pm on day 1 (baseline) and at the same time on day 2, two to four hours after a lumbar CSF hydrodynamic manipulation. The concentrations of glucose, lactate, pyruvate, and glutamate on day 1 and 2 were compared. RESULTS: After CSF drainage, there was a significant rise in the intracerebral concentration of lactate and pyruvate. The lactate to pyruvate ratio was increased and remained unchanged after drainage. There was a trend towards a lowering of glucose and glutamate. Mean intracerebral PtiO(2) was higher on day 2 than on day 1 in six of eight patients. CONCLUSIONS: There is increased glucose metabolism after CSF drainage, as expected in a situation of postischaemic recovery. These new invasive techniques are promising tools in the future study of the pathophysiological processes in IAHS.     

Effects of the DT-diaphorase inhibitor dicumarol on striatal monoamine levels in L-DOPA and L-deprenyl pre-treated rats

It has been proposed that DT-diaphorase plays a strategic role as a neuroprotective enzyme for monoamine neurons, perhaps together with monoamine oxidase (MAO). Thus, we investigated the long-term effects produced by DT-diaphorase inhibition with dicumarol injected unilaterally into the medial forebrain bundle (MFB) on monoa mine and metabolite levels, alone, or following dopamine loading with 3,4-dihydroxyphenyl-l-alanine (l-DOPA) or MAO inhibition withl-deprenyl. Monoamine levels were assayed in aliquots from tissue samples from right and left straitum, including both dorsal and ventral regions.Dicumarol alone produced increases in 5-hydroxytryptamine (5-HT) and 5-hydroxyindoleacetic acid (5-HIAA), but not in dopamine and metabolite levels when assayed two weeks ater. However, following preloading with L-DOPA(3 x 25 mg/kg s.c. 7, 4 and 1h before surgery), a long-lasting bilateral increase in dopamine and metabolite levels was observed after dicumarol. No effect was observed on dopamine, 5-HT and metabolite levels afterl-deprenyl (3 x 10mg/kg, s.c.) alone, but the levels were unilaterally increased whenl-deprenyl was followed by dicumarol. The same result was produced when bothl-deprenyl and dicumarol were injected simultaneously into the same brain region.In conclusion, the present study shows that intracerebral inhibition of DT-diaphorase produces long-term changes in 5-HT, but also in dopamine metabolism when DT-diaphorase inhibition is combined with MAO inhibition by systemic or intracerebral treatment withl-deprenyl. It is suggested that both MAO and DT-diaphorase have to be inhibited for inducing long-term changes in monoamine metabolism. Thus, DT-diaphorase is an enzyme to be taken into account whenl-DOPA is used to treat Parkinson's disease, or when an MAO-inhibitor is used to treat depression.     

Parkinson's disease and basal ganglia calcifications: prevalence and clinico-radiological correlations.

We reviewed computerized tomograms (CT) for basal ganglia and dentate nucleus calcifications in 79 patients with Parkinson's disease (PD), 54 patients with Alzheimer's disease (AD) and 109 controls aged 50 or more. When it was determined, no patient had disturbances in calcium metabolism. We found: (1) 30 subjects out of 242 (12.3%) with calcification located within the lenticular nucleus in 28. (2) Calcifications were unilateral in 11 and asymmetric in 11. (3) The prevalence of calcifications was 21.5% in PD, 9.2% in AD and 7.3% in controls and were significantly more severe in PD than in C and AD (P less than 0.02). (4) PD patients with calcifications were clinically indistinguishable from those without calcification. (5) Calcifications within the basal ganglia were not associated with a levodopa-resistance. We suggest the basal ganglia calcifications are more frequent in PD, but we cannot explain why, since post-synaptic lesions have never been showed in PD.