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.     

Pseudohypoparathyroidism, parkinsonism syndrome, with no basal ganglia calcification.

A 20 year old woman with pseudohypoparathyroidism, Parkinsonism and no basal ganglia calcifications shown by computed tomography is reported. She has typical features of pseudohypoparathyroidism and biochemical evidence of end-organ resistance to parathyroid hormone. She is mentally retarded and has tremor, rigidity, bradykinesia, and stooped posture. The cause of Parkinsonism in pseudohypoparathyroidism is thought to be basal ganglia calcification. This patient must have another pathophysiology, perhaps directly related to a G protein defect, causing impaired neurotransmission.     

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.     

Intracerebral bilateral symmetrical calcifications, demonstrated in a patient with pseudohypoparathyroidism

Bilateral Symmetrical Calcifications (B.S.C.) in cerebro represent calcium deposits usually found in the basal ganglia and/or dentate nucleus. They can be the result of diverse disorders, but can also present themselves without any underlying disease. Most often they are asymptomatic, but if the calcifications are extensive, extrapyramidal and cerebellar signs may arise. The following case concerns a patient with pseudohypoparathyroidism. Besides the usual signs and symptoms found in this disease, the patient also showed extensive B.S.C. The etiology and clinical symptoms of B.S.C. will be discussed. Furthermore, attention will be given to the syndrome of the pseudohypoparathyroidism and the effects of hypocalcemia.     

自发性脑出血早期血肿扩大首诊CT分析

探讨首诊头部CT影像对自发性脑出血早期血肿扩大的预测价值。300例发病后6h内入院的自发性脑出血患者,经CT检查显示其中61例(20.33%)发生早期血肿扩大,经单因素和多因素Logistic回归分析显示,早期血肿扩大与首诊CT距发病时间短、血肿密度不均匀、中至重度脑萎缩及血     

Cerebellar calcification on computerized tomography

Cerebellar calcification on CT scan was observed in five patients over a two-year period. It was located bilaterally and symmetrically in the dentate nucleus in all 5 patients and in the cerebellar vermis in one. Calcifications of the basal ganglia and cerebral cortex were associated in two cases each. Skull radiography did not reveal the cerebellar calcifications, and serum calcium levels were normal in all patients. None had symptoms or signs of cerebellar dysfunction, and they had a variety of different clinical diagnoses. Cerebellar calcification may be a form of benign intracerebral calcification.     

Hypertensive intracerebral hematoma after aneurysmal subarachnoid hemorrhage

We report a patient with sequential intracerebral hematoma in bilateral basal ganglia after an aneurysmal subarachnoid hemorrhage. A 55-year-old woman presented with sudden loss of consciousness without a past history of hypertension. Subarachnoid hemorrhage secondary to a ruptured anterior communicating artery aneurysm was seen on initial CT and an intracerebral hematoma was observed in both basal ganglia 3 hours later on a follow-up CT scan. We suggest that delayed intracerebral hematoma may occur due to increased intracranial pressure caused by aneurysmal rupture and discuss the possible mechanisms of this occurrence.     

Crises épileptiques révélant des anomalies du métabolisme phosphocalcique

Hypocalcemia due to hypoparathyroidism produces a broad spectrum of clinical manifestations, but overt symptoms may be sparse. One unusual presentation is onset or aggravation of epilepsy in adolescence revealing hypoparathyroidism. This situation can lead to delayed diagnosis, with inefficacity of the antiepileptic drugs. We report five cases of adolescence-onset epilepsy with unsuccessful antiepileptic therapy, even with gradually increasing dose. Physical examination revealed signs of hypocalcemia, confirmed biologically. Full testing disclosed the origin of the seizures: hypoparathyroidism in three patients and pseudohypoparathyroidism in the other two. In four of five patients, computed tomography showed calcification of the basal ganglia, defining Fahr's syndrome. The patients were treated with oral calcium and active vitamin D (1-alphahydroxy vitamin D3). Seizure frequency progressively decreased and serum calcium levels returned to normal. These cases illustrate the importance of the physical examination and of routine serum calcium assay in patients with new-onset epileptic seizures in order to detect hypocalcemia secondary to hypoparathyroidism.     

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.     

Calcinose striatopallidodentelée,hypoparathyroïdie et atteinte neurologique : étude de série

IntroductionThe respective roles of hypocalcemia and intracerebral calcifications in the occurrence of various neurological manifestations in hypoparathyroidism is not entirely clear. Nevertheless, therapeutic and prognostic implications are important.ObjectivesWe analyze the neurological clinical aspects observed in hypoparathyroidism and correlate them to the biological calcium abnormality and radiological CT scan findings. We also compare these results with data reported in the idiopathic form of striatopallidodentate calcinosis.PatientsThe neurological clinical, CT scan findings and outcome have been retrospectively studied in patients recruited during 13 years (2000–2012) for neurological features associated with hypoparathyroidism or pseudohypoparathyroidism.ResultsTwelve patients with primary hypoparathyroidism (n = 5), secondary to thyroidectomy (n = 4) and pseudohypoparathyroidism (n = 3) were studied. The sex-ratio was 1 and mean age was 39 years. All patients had a tetany, 60% had epilepsy, associated in one patient with “benign” intracranial hypertension; 50% had behavioral changes. Response to calcium therapy was excellent for all these events. Moderate cognitive deficit was noted in three patients (25%), parkinsonism in two patients and hyperkinetic movement disorders in one other. These events were not responsive to calcium therapy and were more common in cases of extensive brain calcifications and in patients who had pseudohypoparathroidism.CommentsThis study suggests that, in patients with hypoparathyroidism, epilepsy and psychiatric disorders are induced by hypocalcemia and reversible after its correction. Cognitive and extrapyramidal impairment seem to be related to the progressive extension of intracerebral calcification, particularly in patients with a late diagnosis. In patients with pseudohypoparathyroidism, this finding is different because of the contribution of other factors, specific to this disease.     

Diffuse encephalic calcification. A case report.

The basal ganglia calcification is known since the last century but with the new neuroimage techniques (CT scan) its diagnosis became more frequent specially in asymptomatic patients. The authors report a case with non-familial primary diffuse encephalic calcification with exuberant calcifications on cerebral hemispheres, cerebellum and brain stem, seen on CT scan.     

Superatentorial intracerebral hemorrhage following infratentorial surgery.

Supratentorial hematoma following infratentorial surgery is rare. We present two such patients with remote site supratentorial hematoma after posterior fossa surgery. In one patient, a supratentorial hematoma developed following surgery for an acoustic tumor. The supratentorial hematoma was located near where a supratentorial meningioma was excised five days before. No hematoma was seen on the immediate postoperative CT scan. In another patient there were two tumors, one in the pons and the other in the basal ganglia. This patient developed a basal ganglia hematoma following brain stem surgery. In both the patients, hematological profile revealed a coagulation abnormality following the posterior fossa surgery. Our first case stabilized conservative management, whereas the second required surgical evacuation of the hematoma. The differential diagnosis of declining level of consciousness after posterior fossa surgery must include supratentorial intracerebral hemorrhage and CT scan of the head is the diagnostic test of choice.     

Idiopathic unilateral calcification of basal nuclei (author's transl)

A case of idiopathic unilateral (left) idiopatic basal ganglia calcification with associated extrapiramidal controlateral symptoms is described. The patient, a 20 years old man, showed since childhood a progressive motor impairment of his right limbs more obvious in his arms. Neurological examination showed hypertonia, distonia, motor and other extrapiramidal impairments of his right limbs. Skull X Ray and CT scan revealed left basal ganglia calcification. Laboratory investigations excluded all the common diseases with basal ganglia calcifications: tumors, tiroid and paratiroid disorders, parassites, vascular, inflammatory or degenerative diseases. Psycodiagnostic tests did not reveal relevant abnormalities. We cannot say with certainty that this is a sporadic case as we were unable to examine the whole family. Slight improvement of symptoms was obtained using orfenadrine and diazepam.     

A case of idiopathic, symmetrical non-arteriosclerotic, intracerebral calcification (Fahr's disease) associated with M-proteinemia, followed by multiple myeloma]

We described a 41-year-old woman with idiopathic, symmetrical, non-arteriosclerotic, intracerebral calcification (Fahr's disease), associated with multiple myeloma. CT scans revealed severe calcification in the basal ganglia, floors of cortices, subcortical white matter, brainstem and cerebellum without calcification in the spinal cord. Cerebral angiography showed no evidence of arteriosclerosis. The cerebral blood flow measured by SPECT, parathyroid function and calcium metabolism were within normal range. The initial symptom was dystonia and spasticity in the left leg, when she was 30 years old, followed by gait disturbance, speech impairment, micrographia and dementia. M-proteinemia was pointed out when she 32 years old. M-proteinemia, which was due to primary benign monoclonal immunoglobulinemia (PBMI), made progress slowly, followed by multiple myeloma when she was 40 years old. Periodical CT scans revealed that the intracerebral calcification had worsened gradually through 8 years. Neurological abnormality had also progressed slowly. In literature, there has not been any report about Fahr's disease associated with PBMI and multiple myeloma. Our present study is the first to radiologically prove that the intracerebral calcification in Fahr's disease progresses gradually through its course.     

Psychosis revealing familial idiopathic basal ganglia calcification

We describe the case of a 39-year-old woman presenting with auditory hallucinations and delusions responsive to antipsychotic drugs. Computerized tomography scans revealed basal ganglia calcifications in the proband and in her two asymptomatic parents. Extensive etiological clinicobiological assessment allowed us to exclude known causes of brain calcifications and diagnose familial idiopathic basal ganglia calcification (IBGC).     

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.     

脑出血患者离子水平相关的临床规律及其与外科手术的关系

目的研究脑出血患者离子水平相关的临床规律及其与外科手术的关系并探讨其临床意义。方法搜集并分析219例脑出血患者(手术患者77例和非手术患者142例)入院时及复查、术前及术后的血清K⁺,Na⁺,Ca²⁺,Mg²⁺及无机磷的数值、入院时血肿体积(根据头部CT影像计算)。结果丘脑-基底节区脑出血术后患者钾钠紊乱发生率明显低于保守治疗患者。经皮尔逊相关性分析,钙离子、镁离子、无机磷浓度与血肿量呈负相关,无机磷组的相关性最强。经多元逐步线性回归分析,血肿量与血清钙、磷呈多元线性相关。结论外科手术治疗丘脑-基底节区脑出血可减轻钾钠离子紊乱,而非丘脑-基底节区脑出血患者的钾钠紊乱不受手术影响。脑出血患者的血肿量越大,血清钙磷镁的浓度越低。     

Slowly progressive expanding hematoma in the Basal Ganglia: a report of 3 cases and a literature review

We demonstrate and discuss slowly progressive expanding hematoma (SPEH) in the basal ganglia, which expands over 2 weeks. To our knowledge, there have been only 5 cases of sudden-onset SPEH of the basal ganglia. To this, we add 3 cases admitted our hospitals because of putaminal hemorrhage within 1.5 hours of onset. All hematomas exhibited "2 components of hematoma sign" on initial CT scans, which we termed the "TCH sign" characterized as an anterolateral fluid portion and a posteromedial solid portion. Follow-up CT scans revealed gradual expansion of the fluid component of the hematoma without rebleeding for the subacute phase. Two cases were treated surgically. The first case, a 47-year-old man, underwent ultrasonically guided hematoma aspiration on day 17 and the second case, a 37-year-old man, underwent hematoma removal by craniotomy on day 23 after onset. Their postoperative courses were uneventful. The third case, a 57-year-old man, improved without surgical treatment and the hematoma dissolved completely within 2 months. To an extent, the TCH sign on a CT scan can be related to SPEH. We reviewed previous reports, including those an chronic expanding intracerebral hematomas and chronic encapsulated intracerebral hematomas, and concluded that it requires approximately 1 month for encapsulation of the hematoma to emerge. We suggest a possible progressive mechanism of SPEH. At first, the hematoma is divided into a fluid and a solid portion. Local generation of osmotically active molecules by clot degradation may allow intravascular fluid to escape into the fluid portion of the hematoma. Edema fluid with leakage via the disrupted blood-brain barrier may also aggravate the fluid portion of the hematoma. The continuing inflammatory response leads to the emergence of a hematoma capsule similar to the membrane observed in cases of chronic subdural hematoma, followed by the secondary causes of hematoma expansion. We discuss feasible timing and surgical treatment methods.     

基底节区小型动静脉畸形出血的手术治疗

目的探讨基底节区小型动静脉畸形出血并脑内血肿病人的手术治疗问题。方法 32例CT示基底节区脑出血患者术中均行血肿清除和血管畸形切除。结果术后对切除的可疑畸形血管行病理切片检查,均证实为脑动静脉畸形。术后MRI及MRA检查均未见脑血管畸形。术后3个月随访ADL分级,Ⅰ级完全恢复日常生活7例;Ⅱ级部分恢复或可独立生活17例;Ⅲ级需他人帮助,扶拐可行8例;无卧床,植物生存病人;无术后再出血患者。结论基底节区小型动静脉畸形出血并脑内血肿病人行血肿清除和畸形血管切除可减少再出血发生,取得了较好预后。     

A prospective study of patients with CT detected pallidal calcifications.

In a prospective study pallidal calcification was detected in 30 of 1478 (2%) adult patients, on CT brain scans. In 8 cases (26%), the calcifications were detected either years after, or during the course of, conditions known to cause basal ganglia calcification, including AIDS in four cases. Eight patients (three with AIDS) had disturbances of calcium and phosphorus metabolism. It was concluded that: a) pallidal calcification is not uncommon and aetiological factors may be recognised more often than previously reported; b) AIDS is emerging as a significant cause of pallidal calcification in young adults, and c) in AIDS and other conditions, abnormal calcium and phosphate metabolism may act in conjunction with local vascular changes.