COVID-19 Unveiling Brain Calcifications.

Neurological symptoms in COVID-19 patients have attracted the interest of the scientific community, yet their mechanisms remain unknown. In some circumstances, the presence of neurological manifestations may result in an incidental diagnosis after a detailed investigation. In the present letter, we discuss a case published by Demir et al., in which the diagnosis of COVID-19 enabled the diagnosis of a rare neurological disorder, characterized by bilateral brain calcifications, commonly known by the eponym Fahr's syndrome. In addition, we report a case of primary brain calcifications unveiled by a suspected coronavirus infection.

Continuous epileptiform discharges during sleep as an evolutionary pattern in patients with congenital Zika virus syndrome.

Congenital Zika virus syndrome (CZVS) is associated with severe neurological deficits. Clinical characteristics of epilepsy and the electroencephalographic (EEG) pattern in CZVS were documented in infancy. In this study, we aimed to describe the EEG findings observed during the follow-up of children with CZVS. Seventy-six EEGs of 55 children (60% female; mean age = 50 months) with confirmed CZVS were analyzed, considering the background, interictal, and ictal epileptiform discharges. Continuous (or almost continuous) epileptiform discharges during non-rapid eye movement sleep were identified in 22 (40%) patients. In 20 (90.1%) patients, the pattern was symmetrical, with an anterior predominance of the epileptiform activity. All patients with this pattern had epilepsy, which was severe in 15 (68.2%) and demanded polytherapy in 19 (86.4%). Subcortical calcifications (77.3%) and multifocal EEGs (72.8%) in earlier ages occurred more often in patients with this pattern. Other unspecific interictal EEG patterns were focal epileptiform discharges in 23 (41.8%) and multifocal activity in six (10.9%). In CZVS, continuous (or almost continuous) epileptiform discharges during sleep emerge as a pattern after the second year of life. This was associated with severe and drug-resistant epilepsy, but not necessarily with an apparent regression. Subcortical calcifications and multifocal epileptiform discharges in infancy are associated with this pattern.

A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.

Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. This review is a diagnostic approach for NBIA cases, from clinical features and brain imaging findings to the genetic etiology.

A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging / Uma orientação diagnóstica para neurodegeneração com acúmulo cerebral de ferro: aspectos clínicos, genéticos e de neuroimagem

ABSTRACT Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. This review is a diagnostic approach for NBIA cases, from clinical features and brain imaging findings to the genetic etiology.

RESUMO A neurodegeneração com acúmulo cerebral de ferro (sigla em inglês NBIA) representa um grupo heterogêneo e complexo de doenças neurodegenerativas hereditárias, caracterizada pelo acúmulo cerebral de ferro, especialmente nos núcleos da base. O quadro clínico das NBIAs em geral inclui distúrbios do movimento, particularmente parkinsonismo e distonia, disfunção cognitiva, sinais piramidais e anormalidades da retina. As formas de NBIA descritas até o momento incluem neurodegeneração associada a pantothenase kinase (PKAN), neurodegeneração associada a phospholipase A2 (PLAN), neuroferritinopatia, aceruloplasminemia, neurodegeneração associada a beta-propeller protein (BPAN), síndrome de Kufor-Rakeb, neurodegeneração associada a mitochondrial membrane protein (MPAN), neurodegeneração associada a “fatty acid hydroxylase” (FAHN), neurodegeneração associada a coenzyme A synthase protein (CoPAN) e síndrome de Woodhouse-Sakati. Esta revisão é uma orientação para o diagnóstico das NBIAs, partindo das características clínicas e achados de neuroimagem, até a etiologia genética.

Paroxysmal Nonkinesigenic Dyskinesias Responsive to Carbamazepine in Fahr Syndrome: A Case Report.

OBJECTIVE: This study aimed to report the case of a patient with paroxysmal nonkinesigenic dyskinesias and Fahr syndrome who had a marked response to carbamazepine. METHODS: We present the case of a 57-year-old female patient with episodes of paroxysmal choreoathetoid dyskinesias in the oromandibular region and distal region of upper and lower extremities, with fluctuating dystonic postures in the same distribution; duration was variable ranging from 30 minutes to 3 hours. Laboratory studies were consistent with primary hyperparathyroidism with bilateral brain calcifications. RESULTS: Treatment with low doses of carbamazepine was successful.

[Basal ganglia calcification on computed tomography: clinical characteristics in 25 patients]. / Calcificação nos núcleos da base na tomografia computadorizada: correlação clínica em 25 pacientes consecutivos.

Twenty-five patients presenting basal ganglia calcification were assessed. This finding comprised 0.68% of all skull CT scan carried out during the period. Two patients were neurologically asymptomatic and 23 presented a variety neurological disorders--headache (7 patients), stroke (5 patients), extrapyramidal syndromes (2 patients), tumor (2 patients), epilepsy (1 patient), mental retardation (1 patient), dementia (1 patient), cranial trauma (1 patient), other neurological conditions (3 patients)--or were asymptomatic from the neurological point of view (2 patients). Findings in the CT scan other than the basal ganglia calcification were observed in 15 (60%) patients. There was a clinical-CT scan correlation in these cases but not in those in which the basal ganglia calcification was an isolated finding. This study highlights the fact that basal ganglia calcification is often a nonspecific finding on CT scan and that it may not be possible to establish a clinical-pathological correlation between them.

[Cerebral calcifications due to hypoparathyroidism: considerations about cases diagnosed many years after partial thyroidectomy]. / Calcificações cerebrais por hipoparatireoidismo: considerações sobre o diagnóstico, longo tempo após a tireoidectomia.

The diagnosis of hypoparathyroidism with neurological findings occurring years after thyroid surgery is considered to be rare. The authors describe 3 cases of hypoparathyroidism associated to brain calcifications diagnosed many years after partial thyroidectomy. Two patients were admitted to Emergency Services presenting with seizures, without a previous diagnosis of hypoparathyroidism. The diagnosis was suspected adding the biochemical analysis to the scar on the neck. The CT, which was performed more than 20 years after surgery, showed large cerebral calcifications in both cases. The third patient did not have neurological symptoms, but presented basal and cerebellar calcifications that were demonstrated in the CT. All patients were treated with calcium and vitamin D with great improvement of clinical status. Adding to a case published previously, we count 4 cases from the same region. Thyroidectomies were very common in this region poor in dietary iodide. Since the clinical follow up was inadequate, we suspect that undetected cases similar to these may exist in the present moment.

Computerized tomography findings in Fahr's syndrome.

We analyzed computerized tomography (CT) findings in six patients with Fahr's syndrome. They presented calcifications in basal ganglia, dentate nucleus, subcortical region and semioval center, due to alteration in calcium metabolism or due to senile relative hypoxemic state. The image pattern was not strictly related with etiology, although some differences in dystrophic senile calcifications (the only one present in semioval center and absent in subcortical region). CT is an easy exam, has maximum sensitivity and allows diagnosis, contributing to early treatment of many etiologies of Fahr's syndrome.

[Neuropsychological and neurophysiological features of Fahr's disease]. / Cambios neuropsicológicos y neurofisiológicos en la enfermedad de Fahr.

BACKGROUND: Fahr's disease (basal ganglia calcification) is characterized by bi hemispherical calcium deposition in basal ganglia, dentate nucleus and semioval center. Its clinical manifestations are a rigid hypokinetic syndrome, mood disorders and cognitive impairment. AIM: To report to the results of a neurological assessment of three siblings with Fahr disease. PATIENTS AND METHODS: Three sisters, aged 55, 56 and 58 years, were studied. All had a rigid hypokinetic clinical picture associated with cerebellar involvement and a cognitive impairment that progressed in 8, 6 and 10 years respectively. Brain CAT scans showed symmetric and extensive calcifications of cerebellar white matter and dentate nuclei, pons, mesencephalon, lenticular nuclei, thalami and semioval centers. Hypoparathyroidism was ruled out. Cognition was assessed with WAIS and Benton tests and Weschler memory scale. The time of reaction to visual stimuli was studied. The processing speed of visual information and the interhemispheric conduction time of such information, were calculated. Cognitive evoked potentials (P 300) were also studied. RESULTS: Cognitive impairment involved verbal and visual-spatial memory, planning, attention and concentration capacities and visual constructive skills. There was a prolongation of reaction time latencies and loss of the normal asymmetry of interhemispheric transmission (without right to left facilitation). P 300 evoked potentials were absent. CONCLUSIONS: These observations suggest that the pathogenesis of cognitive and motor changes in Fahr's disease is based in a dysfunction of cortico basal connections and their interhemispheric relations. This defines a subcortical dementia secondary to mineral deposits in subcortical structures.

[Clinical and neuroradiologic aspects of pseudohypoparathyroidism. Case report]. / Aspectos clínicos e neurorradiológicos do pseudo-hipoparatireoidismo. Relato de caso.

The authors describe the case of a 18-year-old man with short stature, epilepsy, mental deficiency and basal ganglia and central nervous system calcifications. The clinical and laboratorial findings have suggested pseudohypoparathyroidism which is a rare pathology with a peripheral resistance to parathormone, neuromuscular hyperexcitability, short stature and various clinical findings. This paper reviews the clinical form and treatment of pseudohypoparathyroidism and the neuroradiologic aspects of calcifications.

[Hemichorea-hemiballism associated to basal ganglia hemorrhage in uncontrolled diabetes mellitus: report of two cases]. / Hemicoréia-hemibalisomo associado a hemorragia em Gânglios da base em diabete mélito descompensado. Relato de dois casos.

Two cases of acute onset hemichorea-hemiballism in female patients with complicated diabetes mellitus are described. Computerized tomography showed diffuse basal ganglia hemorrhage contralateral to the abnormal movements. Occurrence of such a presentation in a teenager with insulin-dependent diabetes mellitus is unique. The relationship between non-ketotic hyperglycemia, structural damage in the basal ganglia and movement disorders are reviewed.

[Basal ganglia calcifications in children]. / Calcificações dos gânglios da base na infância.

We report the study of four children with bilateral basal ganglia calcifications (BGC) visualized on CT scan. Epilepsy was the clinical manifestation of three patients whose laboratory investigation revealed abnormal calcium metabolism. The first aim of this paper is to call attention to a treatable entity that can cause epileptic syndromes in infancy and childhood. The second purpose is to review the literature comparing with our fourth child who presented encephalopathy with BGC.

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.