Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

While rare, Fahr's disease should be considered as a differential diagnosis for seizures, movement disorders, or cognitive impairment in tropical settings. Classically, bilateral calcification of the basal ganglia is seen on CT. Endemic infections, metabolic, and toxic causes should be excluded. Treatment using Levodopa is often beneficial.
...
PMID:Fahr's disease: a rare neurological presentation in a tropical setting. 2650 11

A typical case of Fahr's syndrome is described in a 76-year-old Brazilian female who underwent a total thyroidectomy three decades ago. Six years before the current admission, she started with generalized tonic-clonic seizures. Associated disorders involved extra-pyramidal, cognitive, nocturnal terror and mood changes. With suspicion of hypocalcemia due to secondary hypoparathyroidism, laboratory determinations confirmed the diagnoses. Furthermore, imaging studies of the central nervous system detected multiple calcifications, with characteristic distribution of Fahr's syndrome. Clinical management was successful.
 ...
PMID:Fahr's Syndrome and Secondary Hypoparathyroidism. 2714 72

Fahr's disease or Fahr's syndrome is a rare neurodegenerative disorder characterized by abnormal symmetrical calcifications of the basal ganglia, thalami, sub-cortical hemispheric white matter and deep cerebellar nuclei. It can be idiopathic or associated with an endocrinopathy, frequently with parathyroid disorder. Clinical spectrum of the disease is wide ranging from neurological features like seizure, syncope, stroke like events, extra-pyramidal symptoms often combined with frontal sub-cortical pattern of behavioural dysfunction and psychiatric symptoms such as psychosis, mood disorder and dementia. Diagnosis is based on the clinical features, progressive neurological dysfunction, absence of biochemical abnormality and characteristic radiological imaging.
 ...
PMID:Fahr's Disease with Seizure Presentation. 2776 18

Fahr's syndrome is a neuropsychiatric syndrome characterized by symmetrical and bilateral intracerebral calcifications located in the basal ganglia and usually associated with a phosphorus and calcium metabolism disorder. Clinical manifestations of Fahr's syndrome vary; it may start at different ages and have a variety of presentations. This article discusses rare presentation of Fahr's syndrome with epileptic seizure. These cases are important because they appear to be the first cases in the literature of Fahr's syndrome presenting with generalized tonic clonic seizure.
 ...
PMID:Fahr's syndrome presenting with epileptic seizure: Two case reports. 2805 90

Fahr's syndrome is a rare disease entity which presents with multiple neurological symptoms like movement disorder or cognitive impairment. We describe a case of a young male patient who presented with symptoms mimicking schizophrenia. He failed to improve despite medical management. He developed an episode of seizure which prompted us to make a computed tomography (CT) scan of the brain, revealing bilateral calcification of basal ganglia, despite normal serum calcium and parathyroid hormone (PTH) levels. This case experience explains the need to rule out all pathological causes of hallucinations before making a diagnosis of schizophrenia.
 ...
PMID:Fahr's Syndrome Misdiagnosed as Schizophrenia: A Case Report. 2847 46

Primary familial brain calcification (PFBC), otherwise known as Fahr's disease, is a rare autosomal dominant condition with manifestations of movement disorders, neuropsychiatric symptoms, and epilepsy in a minority of PFBC patients. The clinical presentation of epilepsy in PFBC has not been described in detail. We present a paediatric patient with PFBC and refractory focal epilepsy based on seizure semiology and ictal EEG, but with generalized interictal EEG abnormalities. The patient was found to have a SLC20A2 mutation known to be pathogenic in PFBC, as well as a variant of unknown significance in SCN2A. This case demonstrates that the ictal EEG is important for accurately classifying epilepsy in affected subjects with PFBC. Further, epilepsy in PFBC may be a polygenic disorder.
Seizure 2018 Mar
PMID:Refractory focal epilepsy in a paediatric patient with primary familial brain calcification. 2944 17

BACKGROUND Idiopathic basal ganglia calcification, also known as Fahr's disease or Fahr's syndrome, is a rare neurological disorder characterized by abnormal calcified deposits in the basal ganglia. Here, we report a case of Fahr's syndrome with calcification of the basal ganglia due to hypoparathyroidism in a patient with seizures. CASE REPORT A 52-year-old male patient visited our clinic with seizures. Brain computed tomography (CT) showed bilateral symmetrical calcifications in cerebellar white matter, the corpus striatum, the posterior thalami, and the centrum semiovale of both cerebral hemispheres. He had symptoms of hypocalcemia and low parathyroid hormone levels. The patient was diagnosed with Fahr's syndrome due to primary hypoparathyroidism. He underwent calcium supplementation and calcifediol treatment. His symptoms improved, and he was discharged from the hospital. CONCLUSIONS In patients with hypocalcemia accompanied by parathyroid dysfunction, neurological examination and CT should be performed to confirm abnormal intracranial calcification.
 ...
PMID:A Case of Seizure Revealing Fahr's Syndrome with Primary Hypoparathyroidism. 3050 55

Intracranial calcification may result from disturbances in calcium metabolism. It often remains asymptomatic, but may present with symptoms like seizure and neurological deficits. Correction of the underlying metabolic disturbance before damage of neuronal tissues due to intracranial calcification may be useful in preventing irreversible neurological deficits. This window period may be the crucial period that needs a thorough clinical evaluation and urgent intervention. We highlight the case of an adult woman with Fahr's disease presented with generalised tonic-clonic seizure. The management priorities were also discussed along with review of literature.
 ...
PMID:Relevance of early intervention in Fahr's disease: understanding through a case study. 3117 22

Patients with chronic idiopathic hypoparathyroidism may develop neurological complications, including calcification of the basal ganglia and other areas of the brain. In Fahr's syndrome, intracranial calcification is associated with an underlying disorder such as hypo or hyperparathyroidism. We report the case of a 37-year-old gentleman, with a history of bilateral cataract surgery and seizures, who presented with a new episode of seizure and was found to have severe hypocalcemia and bilateral symmetric intracranial calcification due to previously diagnosed primary hypoparathyroidism. He had symptoms and signs mimicking ankylosing spondylitis (AS), but with negative radiological and serological findings, not fitting into the diagnosis of axial spondyloarthropathies (SpA), as per standard criteria. Patients with long-standing idiopathic hypoparathyroidism can have severe calcification of soft tissues and bones, including vertebrae and paravertebral soft tissues, causing inflammatory back pain and stiffness. It is vital to report such cases as their occurrence is rare, and physicians should be aware of the possibility while evaluating patients with inflammatory back pain. Treatment in these cases is directed towards hypocalcemia and underlying primary pathology rather than spondyloarthropathy.
 ...
PMID:Primary Hypoparathyroidism Mimicking Ankylosing Spondylitis in a Young Man with Fahr's Syndrome: A Case Report. 3294 87


<< Previous 1 2