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)

A 38-year-old man living near Phnom Penh (Cambodia) was admitted to a hospital in Paris in June 2001 for a single episode of a generalized grand mal seizure. This episode was preceded by a 9-month history of headaches. Magnetic resonance imaging (MRI) of the head revealed a rounded lesion immediately ahead of the left central sulcus. The resected lesion was about 20 mm in diameter. Histologic examination revealed an elongated but unsegmented metacestode at the center of the lesion. Polymerase chain reaction (PCR) analysis was inconclusive due to formalin-based histologic processing of the tissue. Morphologic analysis based on the histologic sections revealed that the metacestode was a tetra-acetabulate plerocercoid of the order Cyclophyllidea, with a distinct rostellum and pseudosegmentation of the dorsoventrally flattened hindbody. This is the first report of a tetra-acetabulate plerocercoid from a human host and the first report of any cyclophyllidean plerocercoid from the human brain. After 6 weeks, the patient was asymptomatic, neurologic examination was normal, and the brain MRI showed only surgical cavitation. The patient returned to Cambodia.
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PMID:Case report: human brain abscess due to a tetra-acetabulate plerocercoid metacestode (Cyclophyllidea). 1589 Nov 23

Focal meningoencephalitis is commonly caused by Herpes simplex virus infection, which typically affects temporal or frontal lobes, and carries a mortality rate of 70% if untreated. On rare occasions, however, the infection is restricted to the brain stem. Polymerase chain reaction analysis of cerebrospinal fluid is the gold standard for the diagnosis of herpes simplex encephalitis. A 46-year-old male was admitted to the hospital with a three-day history of headache and fever up to 39 degrees C. Cerebrospinal fluid findings were in accordance with aseptic meningitis. On the third hospital day, the patient presented with double vision followed by confusion, and gaze paresis developed. The condition rapidly progressed from stupor to coma. A second examination of cerebrospinal fluid revealed a low glucose level (1.2 mmol/l) and cefotaxime with ampicillin were started empirically. All cerebrospinal fluid specimens were negative for bacteria and fungi. Serum IgG antibodies for herpes simplex virus type 1 were found with no intrathecal specific antibody synthesis. A polymerase chain reaction analysis of cerebrospinal fluid sample performed on the seventh day of his illness was negative for herpes simplex virus 1 and 2. A computer tomography scan of the brain did not show any abnormality. Despite antimicrobial and supportive intensive care, the condition of the patient progressively deteriorated and he died on the 11th day after admission. An autopsy revealed hemorrhagic and necrotic brainstem meningoencephalitis, and herpes simplex virus type 1 infection was confirmed by hybridization in situ. Herpes simplex virus encephalitis carries a mortality rate of 70% if untreated. The atypical location of the infection, as well as an atypical clinical manifestation with negative radiological and microbiological tests, could be the reasons for false diagnoses and mistreatment. Many authors advocate the use of empiric acyclovir in any patients with unexplained encephalopathy, since delay in treatment may greatly affect outcome. We describe a patient who died due to a herpes simplex virus 1 encephalitis affecting the brainstem, where nucleic acids were found post mortem by in situ hybridization. On rare occasions, the herpes simplex viral infection, as well as clinical manifestations and pathological changes, is restricted solely to the brainstem.
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PMID:Herpes simplex virus infection limited to the brainstem. 1609 78

Mitochondrial encephalopathy, lactic acidosis with stroke-like episodes (MELAS) is a rare mitochondrial disorder that affects adults. MELAS syndrome can mimic cerebrovascular disease, encephalitis or toxic-metabolic encephalopathy. The authors reported two patients who presented with auditory symptoms before the onset of encephalopathy and stroke-like episodes. The first patient was a 28 year-old man, who presented with acute sensorineural hearing loss (SNHL) followed by headache, left hemiparesis and generalized tonic-clonic seizure. CT scan of the brain showed hypodensity lesion at the tip of right temporooccipital region. Audiogram and brainstem auditory evoked potential (BAEP) showed abnormal conduction of left brainstem auditory pathway. MRI of the brain showed a lesion involving gray and white matters of the right occipital, parietal and temporal lobes. The distribution of the lesions was not compatible with distribution of arterial supply. MRA was normal. The second patient was a 56 year-old woman with a one-year history of hearing loss. The audiogram revealed bilateral SNHL. A few days before admission, her hearing was acutely deteriorated She could not understand a conversation while she could communicate by writing. CT scan of the brain showed hypodensity in both temporal lobes and MRI revealed lesions in the same area. Pure tone audiogram showed moderate SNHL but BAEP was normal. One week later, she developed global dysphasia and generalized tonic-clonic seizure. Both patients had elevated cerebrospinal fluid and serum lactate: pyruvate ratio. Polymerase chain reaction-restriction fragment length polymorphism disclosed A3243G mtDNA mutation in the blood in the first patient and in muscle biopsy in the second patient. Ubiquinone supplement was prescribed The auditory symptoms in combination with stroke-like episode in supratentorium are important clues to diagnose MELAS syndrome.
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PMID:Auditory symptoms: a critical clue for diagnosis of MELAS. 1647 Nov 25

A severely immune-suppressed AIDS patient was suspected of suffering from BK virus (BKV) meningoencephalitis, after being studied for common causes of neurological complications of co-infectious origin. Polymerase chain reaction (PCR) and sequence analysis of cerebrospinal fluid and brain samples, confirmed the presence of BKV. His clinical condition improved along with the regression of brain lesions, after modifications on his antiretroviral regime. Five months after discharge, the patient was readmitted because of frequent headaches, and a marked inflammatory reaction was evidenced by a new magnetic resonance imaging (MRI). The symptoms paralleled a rising CD4+ lymphocyte count, and immune reconstitution syndrome was suspected. This is the first non-postmortem report of BKV meningoencephalitis in an AIDS patient, showing clinical and radiographic improvement solely under HAART.
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PMID:BK virus associated meningoencephalitis in an AIDS patient treated with HAART. 1755 55

Rickettsiosis are zoonotic diseases transmitted to humans by arthropods. Prevalence of imported disease increases in parallel to the frequency of international travel. Clinical presentation is characterised by fever, headache and rash. Delay in the initiation of an antibiotic treatment efficient on Rickettsia spp. may have fatal impact on evolution. Serology is the more widely used diagnostic test. However, it only provides retrospective diagnosis. Polymerase chain reaction (PCR) and immunohistochemistry may provide early diagnosis. Doxycyclin is the first-line treatment and should be given empirically as soon as a rickettsial disease is suspected.
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PMID:[Rickettsiosis: a clinical approach]. 1758 24

A 39-year-old man presented with headache, weight loss, bilateral subdural hematomas, pansinusitis, and visual loss. The neuro-ophthalmologic examination disclosed deep choroidal lesions and bilateral optic disc edema. Orchiectomy for testicular torsion showed acute vasculitis consistent with polyarteritis nodosa (PAN). Polymerase chain reaction (PCR) testing revealed hepatitis C. This is the first reported case of PAN due to hepatitis C with early findings of choroidal and optic nerve infarction.
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PMID:Choroidal and optic nerve infarction in hepatitis C-associated polyarteritis nodosa. 1789 18

A 33-year-old woman presented with stabbing perianal pain and intermittent headache and photophobia. Examination revealed atypical multiple perianal fissures with non-specific neurological findings. Polymerase chain reaction of the perianal swab and cerebrospinal fluid examination confirmed the diagnosis of perianal herpes simplex type 2 ulcer with herpes meningitis. This report emphasizes the importance of performing further investigations on patients with atypical anal fissures with or without systemic symptoms and signs to avoid misdiagnosis, inappropriate treatment and prolonged discomfort.
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PMID:Case report: herpes meningitis complicating genital herpes presenting as anal fissure. 1793 4

A 24-year-old immune-competent woman was admitted to hospital with a three-day history of fever and headache. On examination bilateral facial nerve palsy, lumbosacral radicular pain, reduced sacral sensibility and urinary retention were found. Open perianal lesions were suspect for genital herpes. The symptoms were compatible with a meningoradiculitis including a sacral polyradiculitis. On testing, cerebrospinal fluid was found to be abnormal with a lymphocytic cell reaction. Polymerase chain reaction (PCR) of cerebrospinal fluid and of the perianal lesions was positive for herpes simplex virus type 2 (HSV-2). An MRI scan showed colouration of part of the cauda equina. The patient was treated by intravenous injections of acyclovir 10 mg/kg t.i.d. for 21 days, after which she completely recovered. HSV-2 infection of the nervous system can cause lymphocytic, and sometimes recurrent meningitis as well as sacral polyradiculitis. It may also occur without any symptomatic genital herpes infection. A positive result from a PCR test of the cerebrospinal fluid confirms this diagnosis. Treatment with acyclovir should be started as soon as possible.
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PMID:[Meningoradiculitis caused by herpes simplex virus type 2]. 1801 19

Radiological, histological and molecular findings in an uncommon adult case of cerebellar medulloblastoma suggested an external granular cell precursor origin. This 19-year-old woman had a 1-month history of progressively worsening headache. Neuroimaging studies demonstrated a homogeneously enhanced well-circumscribed mass lesion in the right cerebellar hemisphere and she underwent surgery. Postoperative neuronal imaging studies showed that the tumor located in the cerebellar folia had been removed totally. Pathological examination identified it as a desmoplastic medulloblastoma with subpial and subarachnoid infiltration and some infiltration into the molecular and granular layer via the perivascular space. Polymerase chain reaction and immunohistochemical findings revealed the presence of MATH-1, expressed in cerebellar external granule cell precursors during fetal development, in the tumor cells. These findings suggest that the tumor arose from external granule cell precursors of the cerebellum and that it was therefore of neuronal lineage.
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PMID:MATH-1 production by an adult medulloblastoma suggestive of a cerebellar external granule cell precursor origin. 1803 51

Familial renal hypouricemia is a hereditary disease characterized by extraordinary high renal uric acid clearance and is associated with acute renal failure (ARF). An 18-year-old sumo wrestler developed ARF after anaerobic exercise. Several hours after the exercise, he had a pain in the loins with oliguria, headache, and nausea. On admission, his serum uric acid was decreased despite the elevation of serum creatinine (9.5 mg/dL). The level of creatine kinase was normal and there was no myoglobinuria or urolithiasis. Magnetic resonance imaging showed no significant abnormality. Renal function improved completely within 2 weeks of hydration treatment. After remission, hypouricemia became obvious (1.0 mg/dL) from the initial level of uric acid (6.1 mg/dL) and fractional excretion of uric acid was 49%. Polymerase chain reaction of a urate anion exchanger known to regulate blood urate level (SLC22A12 gene: URAT1) demonstrated that homozygous mutations in exon 4 (W258X). Both parents showed heterozygous mutation of the URAT1 gene, but both siblings showed no mutation. Thus, we describe a Japanese sumo wrestler of familial renal hypouricemia complicated with anaerobic exercise-induced ARF, with definite demonstration of genetic abnormality in the responsible gene, URAT1.
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PMID:Acute renal failure after exercise in a Japanese sumo wrestler with renal hypouricemia. 1909 27


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