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 16-year-old young male experienced persistent headache, and brain computed tomography and magnetic resonance imaging showed an abnormal mass with calcification in the right temporal lobe of the cerebrum. The tumor was located in the leptomeninges and cerebral cortex. In the leptomeninges, multiple calcified-fibrous nodules were noted. In this area spindle-shaped cells were arranged in a fascicular or storiform pattern. A few meningioma-like nodules were also present. With continuity of this leptomeningeal lesion, a diffuse infiltrative lesion composed of proliferating perivascular cells and hyalinized small vessels was also present in the cerebral cortex. The proliferating vessels were small and narrowed by proliferation of surrounding spindle-shaped cells. Immunohistochemically, the spindle-shaped cells had strong to moderate positivity for vimentin and CD34 and weak positivity for epithelial membrane antigen and S-100 protein. The maximum Ki67 labeling index was 0.3%. The spindle-shaped cells showed loss of heterozygosity on D17S929 and D17S282 microsatellite markers flanking the NF2 gene. These histopathologic and genetic findings are consistent with meningioangiomatosis, and meningioangiomatosis has been thought to be a neoplastic lesion of meningothelial cells. This is the first report of a genetic alteration in a case of meningioangiomatosis.
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PMID:Meningioangiomatosis occurring in a young male without neurofibromatosis: with special reference to its histogenesis and loss of heterozygosity in the NF2 gene region. 1175 80

A 42-year-old woman complained of tinnitus, hearing loss and headache. Many years ago she had been treated for a vestibular schwannoma and cutaneous neurofibroma. MRI revealed bilateral vestibular schwannomas and multiple meningiomas due to neurofibromatosis type 2.
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PMID:[Diagnostic image (252). A woman with complaints of tinnitus, hearing loss and headache]. 1632 Jun 67

A 55-year-old woman presented with a longstanding history of headache and personality change. Preoperative imaging suggested an olfactory groove meningioma invading the posterior nasal space. Following surgical removal of the lesion histopathology confirmed the presence of both a nasal schwannoma and an olfactory groove meningioma. This dual pathology may represent a variation of neurofibromatosis type 2 (NF-2).
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PMID:Combined nasal and skull base pathology: adjacent nasal schwannoma and olfactory groove meningioma. 1645 71

We report a case of a patient presenting with clinical, radiological and endoscopic features of colitis due to a compressive left para-aortic mass. Total open surgical excision was performed, which resulted in complete resolution of colitis. Histopathology and immunohistochemistry revealed benign retroperitoneal schwannoma. These neural sheath tumors rarely occur in the retroperitoneum. They are usually asymptomatic but as they enlarge they may compress adjacent structures, which leads to a wide spectrum of non-specific symptoms, including lumbar pain, headache, secondary hypertension, abdominal pain and renal colicky pain. CT and MR findings show characteristic features, but none are specific. Schwannoma can be isolated sporadic lesions, or associated with schwannomatosis or neurofibromatosis type II (NF2). Although they vary in biological and clinical behavior, their presence is, in nearly every case, due to alterations or absence of the NF2 gene, which is involved in the growth regulation of Schwann cells. Both conditions were excluded by thorough mutation analysis. Diagnosis is based on histopathological examination and immunohistochemistry. Total excision is therapeutic and has a good prognosis. Schwannomatosis and NF2 should be excluded through clinical diagnostic criteria. Genetic testing of NF2 is probably not justified in the presence of a solitary retroperitoneal schwannoma.
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PMID:Benign retroperitoneal schwannoma presenting as colitis: a case report. 1790

Neurofibromatosis 2 (NF2) is caused by mutations in the NF2 gene predisposing carriers to develop nervous system tumours. Different NF2 mutations result in either loss/reduced protein function or gain of protein function (abnormally behaving mutant allele i.e. truncated protein potentially causing dominant negative effect). We present a comparison between the clinical presentations of patients with mutations that are predicted to produce truncated protein (nonsense/frameshift mutations) to those that results in loss of protein expression (large deletions) to elucidate further genotype-phenotype correlations in NF2. Patients with nonsense/frameshift mutations have a younger age of diagnosis and a higher prevalence/proportion of meningiomas (p = 0.002, p = 0.014), spinal tumours (p = 0.004, p = 0.004) and non-VIII cranial nerve tumours (p = 0.006, p = 0.003). We also found younger age of diagnosis of vestibular schwannomas (p = 0.007), higher mean numbers of cutaneous lesions (p = 0.003) and spinal tumours (p = 0.006) in these patients. With respect to NF2 symptoms, we found younger age of onset of hearing loss (p = 0.010), tinnitus (p = 0.002), paraesthesiae (p = 0.073), wasting and weakness (p = 0.001) and headaches (p = 0.049) in patients with nonsense/frameshift mutations. Our comparison shows, additional, new correlations between mutations in the NF2 gene and the NF2 disease phenotype, and this further confirms that nonsense/frameshift mutations are associated with more severe NF2 symptoms. Therefore patients with this class of NF2 mutation should be followed up closely.
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PMID:Further genotype--phenotype correlations in neurofibromatosis 2. 1996 70

Neurofibromatosis 2 (NF2) results in multiple central nervous system tumours. In this case report, the patient has one vestibular schwannoma, one trigeminal schwannoma and two meningiomas developed before the age of 30. Aiming to treat three targets at one fraction with minimal interaction and overlapping doses to normal tissue, the sophisticated equipment of tomotherapy was utilised for frameless stereotaxy; tomotherapy delivered intensity-modulated, rotational radiation therapy using a fan-beam delivery. Daily CT scans with the inbuilt CT scanner were also performed as part of the image-guided radiotherapy. The course of fractionated stereotactic radiotherapy consisted of eight fractions given three times per week with an overall treatment time of 17 days. For the meningioma over left parietal vertex, 4.5 Gy per fraction was given at 36 Gy/8 Fr/17 days. For the meningioma over anterior cerebral falx, 4 Gy per fraction was given at 32 Gy/8 Fr/17 days. For the two schwannomas as one target, 5 Gy per fraction was given at 40 Gy/8 Fr/17 days. The acute effect of the treatment was alopecia and mild headache. Subsequent follow-up confirmed clinical improvement. This is the first reported case of clinical experience with tomotherapy in the management of NF2.
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PMID:Tomotherapy for neurofibromatosis Type 2: case report and review of the literature. 2033 36

The authors report a case of an isolated schwannoma of left hypoglossal nerve in a 9-year-old girl. To the authors' knowledge, this is the first case report of hypoglossal nerve schwannoma in the pediatric population in the absence of neurofibromatosis Type 2. The patient presented with a 2-month history of morning nausea and vomiting with occasional daytime headaches. Magnetic resonance imaging and subsequent CT scanning revealed a dumbbell tumor with a belly in the lower third of the posterior fossa and head underneath the left jugular foramen. Its neck protruded through an expanded hypoglossal canal. Although the lesion bore radiological characteristics of a hypoglossal schwannoma, the absence of hypoglossal palsy and the apparent lack of such tumors in the pediatric population the preoperative diagnosis was not certain. The tumor was approached via a midline suboccipital craniotomy, and gross-total resection was achieved. Pathological examination confirmed the diagnosis of schwannoma. Blood and tumor tests for mutations in the NF2 gene were negative. Postoperative mild hypoglossal palsy recovered by the 3-month follow-up, and an MRI study obtained at 1 year did not show recurrence.
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PMID:Isolated hypoglossal schwannoma in a 9-year-old child. 2272 44

Schwannomatosis is the third major form of neurofibromatosis (NF) and is distinct from NF1 and NF2. The disease is not well recognized in Asian countries and the role of germline SMARCB1 mutations requires investigation. A 35-year-old Japanese man complaining of headache underwent an MRI examination, which showed a cystic tumor at the left cerebellopontine angle. The tumor was surgically removed and diagnosed as vagus nerve schwannoma. He had a past medical history of multiple schwannomas of the neck, groin and intercostal nerves, which were also treated surgically. He had a family history of multiple schwannomas for his father and sister. Systemic examinations of these family members ruled out a diagnosis of NF1 or NF2, and thus schwannomatosis was suspected. Genetic analysis revealed a germline mutation (c. *82C > T) of SMARCB1, and a somatic mutation of NF2 without loss of heterozygosity at the chromosome 22 locus. This is the first report of familial schwannomatosis associated with a germline mutation of SMARCB1 in an Asian country.
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PMID:Familial schwannomatosis with a germline mutation of SMARCB1 in Japan. 2563 85

While the majority of intracranial meningiomas have an indolent clinical course, sudden and unexpected death may rarely occur. Two cases are reported to demonstrate rapid clinical deterioration resulting in death in individuals with large, grade I, parasagittal meningiomas. Case 1 was a 46-year-old man with a history of headaches and epilepsy who suddenly collapsed and died. A large right frontal parasagittal meningioma with haemorrhage had compressed the brain and lateral ventricle, causing tonsillar herniation. In case 2, a previously well 83-year-old woman presented with a one-week history of progressive dysphagia and dysphasia. She suffered rapid deterioration and was prescribed comfort care. A right-sided parasagittal meningioma had compressed the right superior and middle frontal gyri with posterior displacement and compression of the right precentral gyrus. If a meningioma is found at autopsy, the possibility of a lethal effect should be considered, and evidence of neurofibromatosis type 2 or other associated heritable conditions checked for.
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PMID:Parasagittal meningioma: A not so benign entity. 2892 24

Meningioangiomatosis (MA) is a rare, benign hamartomatous lesion found in cerebral cortex and leptomeninges. It occurs mostly in 5 - 15 year old children in form isolated or diffuse; the diffuse form may be associated with neurofibromatosis type 2 (NF2). The sporadic type in the adults is less common.The patient was a 37 year-old man with a long history of frontal headache. In suspected sinusitis, the patient underwent cerebral MRI that showed hypointense lesion in the right frontal lobe with heterogeneous contrast enhancement after gadolinium administration. There were no stigmata or family history of neurofibromatosis. A right pterional approach with a supraorbital craniotomy was performed. The lesion was removed with complete remission of the headache in the postoperative time. MA enters into differential diagnosis with several other diseases and a correct diagnosis is mandatory. The total surgical removal is the treatment of choice, and the prognosis after surgery is usually excellent for the absence of recurrence in sporadic cases.
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PMID:Meningioangiomatosis Without Neurofibromatosis Type 2. 2914 94


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