Symmetrical Calcification Research Articles

Seizure, tetanic spasm and primary hypoparathyroidism

Primary hypoparathyroidism is not a common disease, and it is not a common cause of seizures. Here we present a 21-year-old female with hypoparathyroidism who presented with tetanic spasm and seizure. Her parathyroid hormone level was low, Calcium level was low and Phosphorus was increased. Electroencephalogram showed sharp spike and Computed Tomography scan showed multiple symmetrical calcification in the basal ganglia, thalamus, cerebellum, cerebral hemisphere and periventricular region. With these features, our provisional diagnosis was Fahrs syndrome. Patient was treated with calcium gluconate and anticonvulsant. Patient improved and was discharged on medication. DOI: http://dx.doi.org/10.3126/jkmc.v2i2.10633Journal of Kathmandu Medical College, Vol. 2, No. 2, Issue 4, Apr.-Jun., 2013, Page: 94-96

Hypoparathyroidism, Hypothyroidism and Thrombocytopenia: Rare Constellation of Fahr’s Syndrome

Fahr’s syndrome is a rare progressive unremitting neurological disorder, characterized by abnormal bilaterally symmetric brain calcifications. It is associated with various endocrinopathies such as hypothyroidism, hypoparathyroidism and hypocalcemia. This case opens up a new horizon of thought process, as it illustrates the clinical presentation of Fahr’s syndrome with thrombocytopenia never reported before. It especially emphasizes on the diagnostic significance of combination of thrombocytopenia with seizures in Fahr’s, as this coupling can result in fatal intracranial hemorrhage if timely seizure management is not initiated. J Endocrinol Metab. 2014;4(4):110-111 doi: http://dx.doi.org/10.14740/jem228w

Pulmonary Alveolar Microlithiasis

A 59-year-old Middle Eastern female with a history of pulmonary alveolar microlithiasis (PAM) was referred to our clinic for second opinion. The patient had been diagnosed in her childhood but was asymptomatic until she developed exertional dyspnea at the age of 54 years. Chest examination revealed bibasilar crackles. Pulmonary function tests revealed mild restriction and reduced diffusing capacity. Six-minute-walk test revealed normal exercise capacity (distance walked, 1,800 ft) with mild exertional desaturation to 88%. Chest X-ray (Figure 1) showed remarkable, fine nodular lower lung zone opacities, and computed tomography of the chest (Figures 2–4) showed symmetrical lower lobe predominant micronodular calcifications along bronchovascular bundles and interlobular septal thickening, findings pathognomonic for PAM (1). PAM is caused by inactivating mutations in the SCL34A2 gene (2, 3). The mutation leads to reduced phosphate reuptake by type IIb sodium phosphate transporter in the apical membrane of type II alveolar cells, resulting in calcium phosphate chelation and microlith formation in alveolar air spaces. PAM is associated with consanguinity, and the incidence is higher in Turkey, Japan, India, and Italy. PAM can be diagnosed on the basis of characteristic radiological findings (4), and biopsy is not usually required. The clinical course of PAM is highly variable, with some patients developing pulmonary fibrosis and others remaining asymptomatic for decades. Etidronate, a bisphosphonate, reduces the formation of calcium hydroxyapatite crystals and has led to clinical and radiological improvement in few cases of PAM (5). The patient was started on treatment with etidronate.

Fahr's syndrome: A Tunisian cohort and review of the literature

Background: Fahr'/INS;s syndrome is characterized by symmetrical and bilateral intracerebral calcifications, located in the basal ganglia. It's mostly associated with a phosphorus calcium metabolism disorder, but could have other etiologies.

Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification

Idiopathic basal ganglia calcification (IBGC) is a rare neuropsychiatric disorder characterized by bilateral and symmetric cerebral calcifications. Recently, SLC20A2 was identified as a causative gene for familial IBGC, and three mutations were reported in a northern Chinese population. Here, we aimed to explore the mutation spectrum of SLC20A2 in a southern Chinese population. Sanger sequencing was employed to screen mutations within SLC20A2 in two IBGC families and 14 sporadic IBGC cases from a southern Han Chinese population. Four novel mutations (c.82G>A p.D28N, c.185T>C p.L62P, c.1470_1478delGCAGGTCCT p.Q491_L493del and c.935-1G>A) were identified in two families and two sporadic cases, respectively; none were detected in 200 unrelated controls. No mutation was found in the remaining 12 patients. Different mutations may result in varied phenotypes, including brain calcification and clinical manifestations. Our study supports the hypothesis that SLC20A2 is a causative gene of IBGC and expands the mutation spectrum of SLC20A2, which facilitates the understanding of the genotype–phenotype correlation of IBGC.

Trouble psychotique secondaire à un syndrome de Fahr : à propos d’une observation

Fahr's syndrome is a rare disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex associated with many neurological and psychiatric abnormalities such as a rigid hypokinetic syndrome, mood disorders and cognitive impairment. Fahr's syndrome is secondary to some disorders, such as hypoparathyroidism. We report the case of a 56 year-old man, with a history of cataract, who was admitted to our psychiatric hospital for the first time in his life because of psychotic symptoms associated with irritability and aggressiveness. Since the age of 38 the patient had become nervous, 10 years later he developed tonic-clonic seizures. Two months ago, he began expressing delusions of persecution against his wife and sons and making fugues. According to his family during this period, he was agitated, aggressive, and suffered from insomnia and anorexia. The general and psychiatric examination showed an upright and bronzed patient with neglected hygiene. He was indifferent to his environment and expressed poor mimics and gestures. He was anxious, suspicious and not very talkative. He was conscious but his attention was slightly decreased. Moreover, he was not aware of his problems. The neurological examination showed extrapyramidal syndrome with postural tremor and cerebellar ataxia. A cranial computed tomography brain scan found bilateral, symmetric basal ganglia calcifications, in favour of Fahr's syndrome. Phosphocalcic investigations revealed low concentration of serum calcium at 1.01mmol/L (normal 2.15 to 2.57mmol/L) and hyperphosphoremia at 2.69mmol/L (normal 0.81 to 1.55mmol/L). He also had low concentrations of 25-OH vitamin as well as decreased urinary levels of phosphate and calcium. The blood level of parathyroid hormone was 0ng/L. The diagnosis of Fahr's syndrome, revealing a hypoparathyroidism was posed. He was supplemented with calcium and alpha cholecalciferol and treated with clozapine (100mg per day). After four weeks, psychotic symptoms responded well to this treatment without expressing any side effects, notably seizures. Psychotic symptoms seen in Fahr's disease include auditory and visual hallucinations, complex perceptual distortions, delusions, and fugue state. Some of them were manifest in this patient. It is likely that the psychosis in both Fahr's disease and schizophrenia share a similar pathology. Positive psychotic symptoms, hallucinations, and paranoia are not necessarily generated by the classical hypothesis of dopamine-mediated attachment of salience to internally generated stimuli. Still, there is some evidence that disruption of the cortex involved in the pathophysiology of schizophrenia is also seen in Fahr's disease, particularly in areas of the limbic system. Psychiatrists should consider Fahr's syndrome as a differential diagnosis in the evaluation of psychosis associated with seizures. This case, along with others in the literature, further emphasizes the importance of the role of neuro-imaging and the search for disrupted phosphocalcic metabolism in patients with atypical psychotic symptoms. Moreover, further research should focus on pharmacologic interventions. The efficacy and risks of neuropharmacologic and psychopharmacologic interventions in Fahr's syndrome, and correlates of good and poor outcome with these interventions remain to be defined.

Fahr’s Syndrome due to Hypoparathyroidism Following Thyroidectomy

Fahr ’ s syndrome is a rare, degenerative, and neuropsychiatric disorder characterized by seizures, extrapyramidal and neuropsychiatric symptoms as a result of symmetric and bilateral calcifications of the nucleus pallidus, the putamen, the dentate nucleus of the cerebellum, and the hemispheric white matter at the base of the skull. The female patients, who has 53-year-old, was admitted in the intensive care unit with status epilepticus for 24 hours associated to acute respiratory failure due to aspiration pneumonia. She had undergone a thyroidectomy 22 years ago, when she started involuntary lasting muscular contractions of the upper extremities, which progressed to convulsions throughout the years. There were Chvostek and Trousseau signs. Laboratory tests showed ionic calcium of 0.55 mmol / L. Computed tomography scan of the brain showed intracranial symmetrical calcifications of the basal nuclei, semioval center, occipital, and cerebellar cortex. According to the clinical presentation, examination findings, and subsequent investigation exams, our case was diagnosed as Fahr ’ s syndrome due to post-thyroidectomy hypoparathyroidism . Fahr ’ s syndrome should be considered in patients with neuropsychiatric disturbances and seizure disorder, especially following thyroidectomy. doi: http://dx.doi.org/10.4021/jmc1252e

Fahr's syndrome

Miss Merry, 17 years old girl hailing from Barobila., Patkelghata, Satkhira was admitted in Khulna Medical College Hospital on 27-06-2010 with the complaints of fever, convulsion and unconsciousness for 7 days. She has also some hearing impairment, behavioral abnormalities and stunted growth since her childhood. On examination she was deeply unconscious, anaemic and febrile. CT scan of brain reveals multiple bilateral symmetrical calcification seen in the brain parenchyma involving basal ganglia, thalamus, para ventricular region, and cerebellar nucleus. Multiple ill defined hypodense areas are seen in the both parieto-occipital region, suggestive of Fahr's syndrome with meningoencephalitis. DOI: http://dx.doi.org/10.3329/bmjk.v45i1-2.13628 Bang Med J (Khulna) 2012; 45 : 33-35

Fahr’s Disease: A Rare Neurological Disease Frequently Misdiagnosed as Acute Psychosis, or Mood Disorder

Fahr’s disease is a rare, degenerative neurological disorder characterized by idiopathic symmetrical and bilateral intracranial calcification. We present a case of 32 years old man with Fahr’s disease who presented with episodes of inappropriate excessive laughing, generalized tonic clonic seizures associated with loss of consciousness, frothing from mouth, urine incontinence and difficulty in walking due to neurological deficit. MRI of brain demonstrated calcification of bilateral basal ganglia, thalami and left dentate nucleus of left cerebellum. The clinical presentation similar to our patient is frequently misdiagnosed due to identical manifestation to other neurological and psychiatric disorders especially in young to middle aged individuals. Fahr’s disease may often misdiagnosed as a patient of acute psychosis or epileptic seizures.

Fahr's Disease and Its Relationship with Hypoparathyroidism: Case Report

Fahr’s disease is characterized by a variety of progressive neuropsychological and cognitive symptoms and symmetric basal ganglia calcifications on cranial CT. The related conditions which may cause Fahr’s disease are hypoxia, radiation, systemic disorders, toxins, disorders of the parathyroid hormones, aberrant calcium metabolism and encephalitis. In this article, we present a 34-year-old female patient diagnosed with Fahr’s disease associated with hypoparathyroidism.

Fahr’s Syndrome- An Interesting Case Presentation

Fahr's syndrome refers to a rare syndrome which is characterized by symmetrical and bilateral intracranial calcification. We are presenting a 63 year old male, who complained of progressive dysarthria of 6 months, which was associated with slowness of movements. His neurological examination revealed Parkinsonian features. His CT scan revealed a symmetrical large area of calcification over the basal ganglia, the thalamus and the cerebellum. The secondary causes of the bilateral calcification were ruled out to make the clinical diagnosis of Idiopathic Bilateral Striopallidodentate Calcinosis, which is otherwise called as the Fahr's syndrome. Deposits of calcium and minerals cannot be linked to a single chromosomal locus and further genetic studies are in progress for identifying the chromosomal locus of the disease.

Secondary bilateral striopallidodentate calcinosis associated with generalized pustular psoriasis (Von Zumbusch)

Bilateral striopallidodentate calcinosis (BSPDC) mentioned in the literature as Fahr's disease (a misnomer), is characterized by symmetrical and bilateral intracerebral calcifications located in the basal ganglia with or without deposits in the dentate nucleus, thalamus, and white matter. This entity is usually asymptomatic but may be manifested by neurological symptoms. Idiopathic BSPDC can occur either as sporadic or autosomal dominant familial forms. Secondary presentations of BSPDC are associated with infections, neoplastic diseases, toxicological or traumatic factors, and metabolic disorders. We describe a case of generalized pustular psoriasis associated with secondary BSPDC owing to pseudohypoparathyroidism. Laboratory tests revealed hypocalcemia, hyperphosphatemia, and a normal serum level of parathormone. The correction of the phosphorus-calcium metabolism disorder produced clinical improvement.

MISTAKEN TETANY: HYPOPARATHYROIDISM IN THE TIA CLINIC

BackgroundOur TIA service has assessed approximately 400 patients over the last 6 months. Just over half of these were TIA mimics. We present an interesting case that was initially referred...

Bilateral striopallidodentate calcinosis presenting with psychiatric symptoms and speech disorders.

Ozdilek B, Uluc K, Gunal DI. Bilateral striopallidodentate calcinosis presenting with psychiatric symptoms and speech disorders.Background: Bilateral striopallidodentate calcinosis (BSPDC), also known as Fahr's disease, is a rare neurodegenerative disorder characterised by the deposition of calcium and other minerals in the basal ganglia, centrum semiovale and cerebellum. It is usually idiopathic. Its clinical manifestations vary from asymptomatic individuals to neuropsychiatric abnormalities, movement disorders, cerebellar symptoms and cognitive impairments.Methods: Five cases of BSPDC – all of which include psychiatric symptoms and speech problems – from two families are documented in this article.Conclusion: The most important diagnostic marker is the demonstration of symmetrical intracranial calcifications. Computerised tomography of the brain is the most frequently used radiologic method to diagnose BSPDC.

A Case with Symmetrical Intracranial Calcifications and Systemic Lupus Erythematosus Presenting with Optic Neuropathy

A Case with Symmetrical Intracranial Calcifications and Systemic Lupus Erythematosus Presenting with Optic Neuropathy

Idiopathic hypoparathyroidism as a cause of extensive intracranial calcification.

A 60-year-old male was referred to radiology department for head CT for evaluation of seizures of recent onset. CT showed extensive symmetric bilateral calcification in caudate nucleus, putamen, thalami, cerebellum and centrum semiovale (Fig. A,B). A radiological diagnosis of Fahr’s disease was made. During hospital stay, patient developed muscular tetany. Serum calcium was found to be low (7.2 mg/dl; normal range 8.4-10.2 mg/dl). Further tests revealed low serum parathyroid hormone (PTH) level (3.60 pg/ml; normal range 15.0-68.0 pg/dl) and elevated phosphorus level. All possible causes of hypoparathyroidism were evaluated with no positive results. On the basis of clinical, hormonal and radiological findings a diagnosis of idiopathic hypoparathyroidism was made. Patient was started calcium and 1,25-dihydroxy vitamin D. Patient reported no episode of seizures during next two days of hospital stay. He was last seen at 3 months follow up with significant improvement of clinical symptoms and serum calcium level returning to normal range.

A Novel Association of the Additional Intracranial Calcification in Lipoid Proteinosis: A Case Report

Lipoid Proteinosis (LP) is a genetically linked, autosomally transferred, rare, chronic multisystem disease which is characterized by a normal lipid profile, but with abnormal deposits of lipids and proteins in the body, which slowly but steadily leads to systemic manifestations. Although it affects almost all the systems of the body, it predominantly manifests as lesions on the skin and it has characteristic intracranial calcifications. Although, the intracranial calcifications can be classified, based on their aetiopathogenesis, as agerelated and physiologic, congenital, infectious, endocrine and metabolic, vascular, and neoplastic; the symmetric calcifications in LP are a distinct entity. To one who is aware of this entity, LP is usually an incidental diagnosis. No permanent cure is available for LP till date. Only symptomatic medical treatment is being given. With the increasing awareness on this entity, LP can now be detected in its early phase and it can be better managed.As this condition is rare, it is necessary to spread awareness on this entity in the scientific community and hence this case is being reported. This case report is the first to demonstrate a novel association of an additional intracranial calcification in Lipoid Proteinosis.

Idiopathic hypoparathyroidism and systemic sclerosis: An association likely missed

Hypoparathyroidism in systemic sclerosis is extremely rare with only a single case reported till date. Idiopathic hypoparathyroidism with systemic sclerosis was diagnosed in a 59-year-old gentleman who had presented with recurrent seizures, instability of gait, skin thickening and tightening over both legs and forearms, and arthritis. Examination was significant for positive Trousseau sign and cerebellar ataxia. Evaluation revealed bilateral symmetrical cerebellar and basal ganglia calcification, sensorineural deafness, low serum calcium, elevated serum phosphorus, normal magnesium, normal vitamin D, low plasma parathyroid hormone, high titer of thyroid peroxidase antibody, positive centromere pattern antinuclear antibody, strongly positive anti-topoisomerase-1 (Scl-70) antibody, nonvisualization of parathyroids on neck ultrasonography and skin biopsy suggestive of hyperkeratosis, increased collagen in dermis, and perivascular lymphomononuclear cell infiltration compatible with scleroderma. Last evaluated 10 months after the diagnosis, his ataxia had improved, he remained seizure-free, Trousseau sign was negative, and he had low-normal calcium calcium with calcium carbonate and calcitriol supplementation and switch from phenytoin to valproate. Further studies are warranted to study the use of serum calcium as a screening test for hypoparathyroidism in patients with systemic sclerosis.

Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients

Familial idiopathic bilateral strio-pallido-dentate calcinosis is a rare autosomal dominant disorder characterized by massive symmetric calcification, detectable by CT, into the globus pallidus and striatum, with or without the involvement of the dentate nucleus, thalamus and white matter in the absence of alterations of calcium metabolism. Clinically, it has been associated with movement and/or neuropsychiatric disorders with age at onset typically in the fourth or fifth decade. Other sporadic or familial diseases can be responsible for brain calcifications with a similar anatomic strio-pallidal or strio-pallido-dentate pattern and, a restricted number of them, for neurological symptoms with onset in adulthood. Moreover, physiological age-related basal ganglia calcifications are often incidentally found, although with a far different CT aspect, in elderly patients with movement disorders. Indentifying familial and idiopathic cases may offer the opportunity to study the molecular mechanisms underlying this minerals deposition.

Fahr's syndrome: a rare clinico-radiologic entity

Fahr's syndrome is a genetically dominant, degenerative disorder characterised clinically by multiple neurological and psychiatric symptoms occurring secondary to calcification in brain parenchyma with subsequent neuronal loss. Presence of bilateral and symmetrical intracerebral calcifications in the basal ganglia, thalamus, dentate nucleus and centrum semiovale region due to unknown aetiology is referred to as Fahr's disease or idiopathic striopallidodentate calcinosis. Fahr's syndrome includes Fahr's disease as well as secondary causes of striopallidodentate calcinosis.1, 2 Though the disease can present in childhood or adolescence the usual age of presentation is 4th–5th decade.