Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Autoimmune hypophysitis (AH) - often referred to as lymphocytic hypophysitis - is a rare disease that affects the pituitary gland and causes inflammation. The disease enlarges the pituitary gland and the clinical presentations are lack of pituitary function and headaches. AH is mostly seen in women during pregnancy or postpartum, but also occurs in males and children. AH is often associated with other autoimmune diseases, most frequently with Hashimoto's thyroiditis. The symptoms are caused by enlargement of the pituitary gland and disturbances of the hormone function. Treatment is either immunosuppressive treatment or surgery.
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PMID:[Autoimmune hypophysitis]. 2041 29

Pheochromocytoma is a rare disease charactrized by excessive production of catecholamines, manifestating mainly with hypertension. We report the case of a 45-year-old woman with history of sudden onset dyspnea, headache, palpitations and sudoresis. An abdominal ultrasound was suggestive of chronic kidney disease (CKD). An abdominal computed tomography and magnetic resonance was performed and showed a mass in the topography of left adrenal. The patient underwent a surgery for the removal of the mass and became stable with normal blood pressure levels, but remained with CKD. The dalayed diagnosis of pheochromocytoma in the present case has contributed to the development of CKD.
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PMID:Delayed diagnosis of pheochromocytoma associated with chronic kidney disease. 2107 60

Spinal epidural abscess (SEA) is a rare disease in children without predisposing risk factors. Atypical presentations of SEA without the classic triad of fever, back pain, and neurological signs, have previously been described. We report an atypical presentation of an acute SEA in a previously healthy adolescent female. This 15-year-old patient presented with right shoulder pain in the absence of the fever, back pain, or long-tract signs; therefore, the diagnosis of the spinal pathology was delayed. Eventually, a thoracic SEA was identified by gadolinium-enhanced magnetic resonance imaging and treated with surgical decompression followed by intravenously administered antibiotics. The patient's course was complicated by chronic headache. Our experience adds to the literature a case that demonstrates the difficulty in diagnosis of atypical presentations of SEA in previously healthy children. In addition, referred or autonomically mediated pain should be considered in unusual pain presentations. Children with significant extremity or abdominal pain should be considered for the possibility of sympathetically mediated pain syndrome due to a thoracic-level spinal cord lesion such as a SEA.
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PMID:A case of autonomically mediated pain due to spinal epidural abscess in an adolescent female. 2164 87

Posterior reversible encephalopathy syndrome (PRES) is a rare disease characterized by altered mental status, seizures, headache, vomiting and visual disturbances, most often described after transplantation and immunosuppressive therapy. PRES is commonly first diagnosed by the neuroradiologist, rather than the clinician, as it is characterized by very typical magnetic resonance imaging (MRI) features, i.e., hyperintense lesions in the territories of the posterior cerebral artery. Here we report our experience in the Intensive Care Unit (ICU) with a case of tacrolimus-related PRES after liver transplant, presenting with sudden neurological deterioration and diffuse and massive hyperintensities upon brain MRI. Discontinuation of tacrolimus, as prompted by the established literature, permitted the patient to eliminate tacrolimus-associated toxicity, whereas its substitution with everolimus and mycofenolic acid allowed the maintenance of immunosuppression while avoiding acute organ rejection and reducing the dosage of corticosteroids. The lowering of blood pressure with drugs reported in the literature for use in PRES proved to be effective but challenging, requiring the use of multiple drugs and only slowly leading to proper control of hypertensive peaks. Nonetheless, hypertension management and supportive therapy allowed for a complete neurological restitutio ad integrum of the patient. In conclusion, tacrolimus-related brain adverse events need to be promptly recognized, especially during the first months after transplantation. When tacrolimus-related PRES occurs, immunosuppressive therapy may be safely and efficiently switched to everolimus and mycofenolic acid. This strategy may help not only to avoid acute organ rejection but also to reduce the dosage of corticosteroids, which might interfere with proper control of hypertension.
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PMID:Posterior reversible encephalopathy syndrome in the Intensive Care Unit after liver transplant: a comparison of our experience with the existing literature. 2317 27

Neurobrucellosis manifesting as optic neuritis is a rare disease in childhood. We report a case of neurobrucellosis in a 11 year old girl leading to visual impairment and headache. Physical examination revealed mild oedema of right tibiotarsic joint and optic neuritis. Investigations showed CSF pleocytosis and a Brucella serum agglutination titer of 1/640. Complete reversal of the symptoms was observed after appropriate antibiotic treatment. To our knowledge only four cases of neurobrucellosis manifesting with visual impairment in childhood are previously reported in literature.
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PMID:Unilateral optic neuritis as a presentation of neurobrucellosis. 2177 48

Hypertrophic pachymeningitis is a rare disease, and the fibrosing inflammatory process causes a thickening of the dura mater. A 62-year-old male undergoing corticosteroid therapy for autoimmune pancreatitis presented with headache and right facial numbness. Brain CT and MRI revealed thickened mass lesion around the tentorium. The specimen obtained by biopsy showed a small number of immunostain areas positive for IgG and IgG4. Systemic IgG4 related disease entity is proposed and analyzed from Japan, and pachymeningitis is also included in the examination. Some autoimmune mechanism is related to pachymeningitis, however, it is necessary to consider well if only the IgG4 has responsibility for the disease.
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PMID:[Hypertrophic pachymeningitis associated with autoimmune pancreatitis examined for IgG4 related disease: a case report]. 2179 26

Cerebral phaeohyphomycosis is a rare and frequently fatal disease. This disease is often caused by hematogenous spread of pathogens that are inoculated in the skin of the extremities after slight or minor trauma, and its mortality rate is rather high despite aggressive treatment. Our patient presented with headache and pyrexia. She was diagnosed with fungal meningitis and treated by systemic administration of voriconazole (VRCZ). However, after initial improvement, meningitis recurred. MRI of the brain showed multiple small masses in the cerebral hemisphere and she was thus referred to our Department of Neurosurgery. On admission, an examination showed that the masses were deeply located in the brain and were too small to be excised; therefore, treatment with systemic VRCZ and intrathecal amphotericin B was initially selected. However, the intracerebral masses continued to grow; therefore, they were surgically excised. Histological examination of the surgical specimens at that time identified the masses as granuloma caused by infection with Aspergillus niger. After the surgery, her general condition improved; therefore treatment with systemic and intrathecal antifungal agents were continued. However, the intracerebral masses recurred, and despite further aggressive surgical treatment and systemic and intrathecal antifungal administration, she died 43 months after the initial diagnosis. Autopsy examination showed that the cerebral lesions were phaeohyphomycotic granulomas. This paper describes the clinical presentation, histopathological results and treatment for this rare disease.
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PMID:Cerebral phaeohyphomycosis: case report. 2180 Dec 37

Cerebral sinus thrombosis is a rare disease appearing mostly in young women. Typical symptoms include headache, convulsions, visual deterioration and various symptoms of neurological deficits. Magnetic resonance imaging of the brain and venous sinuses is the diagnostic cornerstone, whereby an obstructed venous sinus, thrombus mass and potential intracerebral lesions such as venous infarction or hemorrhage are diagnosed. Anticoagulant therapy should be initiated immediately once the diagnosis is confirmed.
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PMID:[Diagnosis and treatment of cerebral sinus thrombosis]. 2197 84

Cerebral venous thrombosis (CVT) is a rare disease. It has numerous and complex etiologies. Inherited or acquired prothrombotic states play a key role in the development of this disease, such as factor V G1691A mutation (FV Leiden). A 15-year-old girl presented to the Department of Neurology with a complaint of severe headache with visual blurring. The diagnosis of CVT was not initially suspected because of the patient's condition on presentation. An MRI showed thrombosis in the superior sagittal sinus, confirming venous stroke. Anticardiolipin and antiphospholipid antibodies were assessed. In addition, inherited prothrombotic defects, such as protein C, protein S, and antithrombin deficiencies, and genetic mutations for FV Leiden, prothrombin gene G20210A (FII G20210A), and methyltetrahydrofolate reductase C677T (MTHFR C677T) were studied. All results were unremarkable except for the unique homozygous FV Leiden mutation, which likely contributed to this prothrombotic situation. This study highlights the fact that FV Leiden may play a significant role in the onset of CVT in young patients.
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PMID:Cerebral venous thrombosis associated with homozygous factor V Leiden mutation in a 15-year-old girl of Tunisian origin. 2204 15

Pituitary autoimmune disease is considered an autoimmune organ-specific disorder, characterized by a pituitary infiltration of lymphocytes, macrophages, and plasma cells that could lead to loss of pituitary function. Hypophysitis may be secondary to systemic diseases or infections. Primary pituitary hypophysitis is classified into lymphocytic, granulomatous, xanthomatous, mixed forms (lymphogranulomatous, xanthogranulomatous), necrotizing and IgG4 plasmacytic, according to the histological findings. Concerning lymphocytic hypophysitis (LH), it is characterized by lymphocytic infiltration and can be subclassified according to the affected area on: lymphocytic adenohypophysitis, lymphocytic infundibulo-neurohypophysitis and lymphocytic panhypophysitis. LH had always been considered a rare disease. Nevertheless, with improved imaging techniques, especially magnetic resonance imaging (MRI), LH diagnosis has been increased. This disease usually affects young women during pregnancy or postpartum period with headache, visual impairment, ACTH deficiency and a homogenous sellar mass with thickening of pituitary stalk in MRI. Definitive diagnosis depends on histopathological evaluation; nevertheless, a presumptive diagnosis could be done in a typical case. As no specific autoantigen was identified in LH, there is no antipituitary antibody (APA) method available for helping diagnosis. However, APA used in some centers for research could support an autoimmune origin for some hypopituitarism previously named as idiopathic, confirming nuances in clinical presentation of pituitary autoimmune disease. Therapeutic approach should be based on the grade of suspicious and clinical manifestations of LH.
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PMID:Pituitary autoimmune disease: nuances in clinical presentation. 2242 58


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