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Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A unique association of Sturge-Weber syndrome and atlanto-occipital assimilation is presented. A 18-year-old male was admitted in emergency because of the sudden severe headache and vomiting. He had vascular nevus in the right half of the face at birth and several episodes of generalized convulsive seizures. On admission craniogram demonstrated calcification in the right occipital area. Neurological examination revealed tenderness in the nuchal region, moderate limitation of cervical mobility in a antero-posterior direction, Bruns-Cushing type nystagmus, bilaterally diminished gag reflex, and positive Romberg's test. Spinal tap showed crystal clear CSF with normal pressure. EEG showed paroxysmal slowing focus in the right parieto-occipital area. Polytomography of the craniovertebral junction demonstrated the unilateral atlanto-occipital assimilation on the left associated with the aplasia of the right posterior arch. Myelography was negative. A right carotid angiography disclosed the dilatation of the basal vein of Rosenthal and abnormal venous vasculature. CT-scan demonstrated the calcified region of the right occipital area more distinctly than the plain roentogenogram, but the enhancement study of the leptomeningeal angioma of the Sturge-Weber syndrome was negative. Never been found this rare association in a review of the literature, the authors discussed the clinical and radiological findings of both diseases.
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PMID:[Sturge-Weber syndrome associated with atlanto-occipital assimilation: a report of a case (author's transl)]. 68 66

The authors reported the clinical course and the postmortem examination of a unique case of neurocutaneous melanosis with numerous anomalies and complications, which included congenital dislocation of lenses, hypogonadism, ectopia of prostatic duct, genuine phimose, retentio testis, psina bifida and neurogenic bladder. This 13-year-old boy with a large hairy nevus in a bathing trunk configulation and multiple small nevi over the whole body since his birth was admitted to our hospital for evaluation of headache and vomiting. Neurological examination showed bilateral papilledema and slight left hemiparesis. A CT scan revealed a large right frontal mass and craniotomy was performed with subtotal removal of this tumor which was confirmed as a malignant leptomeningeal melanoma. He initially made uneventful postoperative recovery, and two courses of chemotherapy with DTIC, ACNU and VCR were given; however, the currence of brain tumor ensued shortly thereafter, and he died in approximately six months after the onset of intracranial symptoms despite of the third course of chemotherapy. Thirty five cases of neurocutaneous melanosis associated with or without malignant melanoma have been reported in Japan. Twenty-eight cases were male and 7 female. Two cases showed the evidence of primary malignant melanoma outside of the central nervous system, whereas twenty eight leptomeningeal melanoma, in which 22 were solid and 6 diffuse, were shown intracranially. Other 5 cases had epileptic seizure and/or hydrocephalus caused by wide spreaded leptmeningeal melanosis. This high incidence of intracranial malignant melanoma in this disorder was remarkable compaired with the previous reports in other countries. Mean duration between deaths and the onset of symptoms of intracranial hypertension or focal neurological signs was 7 months, ranging from 1 to 24 months, showing the rapidly deteriorating course in this disorder.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An autopsy case of neurocutaneous melanosis associated with intracerebral malignant melanoma]. 332 33

A case of primary diffuse leptomeningeal melanoblastosis in a 46-year-old male is reported. His symptoms included headaches, transient hemiparesis, epileptic seizures and a progressive psychosyndrome. CT brain scans showed a slight enhancement of density in the subarachnoidal space. The disease was diagnosed by CSF cytology, using light microscopy, electron microscopy, autoradiography and cell culture. Systemic combined chemotherapy using Cisplatinum, DTIC, and Vindesine was without any significant response and he died 18 weeks after onset of the first complaints. Autopsy showed a diffuse infiltration of the entire leptomeninges by melanotic melanoblastoma cells invading the sagittal superior sinus. A thorough dissection including the orbital contents and skin nevi failed to reveal a primary tumor outside the CNS.
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PMID:Review and case report: primary melanoblastosis of the leptomeninges. 399 6

Four women, aged between 23 and 69 years, who had developed Ota's naevi either during the menarche (3 cases) or the first pregnancy (1 case), complained of headache in the frontal and orbital zones affected by the naevi. These headaches bore no relationship to those normally described as occurring in this region. They increased in severity, at the same time as the intensity of the pigmentation of the naevus, in each patient during the menstrual periods, and did not respond to conventional analgesics.
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PMID:[Headache affecting the pigmented zones of Ota's naevus: clinical study in four cases (author's transl)]. 627 Aug 3

A 65-year-old female with congenital giant, hairy and pigmented nevus developed sudden onset of headache and consciousness disturbance. CT scan revealed a high density mass in the right temporal subcortical region. The high density area suggested hematoma. A right temporal craniotomy was performed. Hemorrhage was observed in a black colored tumor. Histologically, the tumor was malignant melanoma, while the skin tumor was benign intradermal nevi. This patient was diagnosed as neurocutaneous melanosis. Neurocutaneous melanosis belongs to unusual congenital syndrome, and an adult case is very rare. To our knowledge this is the oldest patient to be reported with this disease.
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PMID:Neurocutaneous melanosis with intracranial malignant melanoma in an adult: a case report. 930 Apr 51

Intracranial arachnoid cysts are benign development anomalies that may be clinically asymptomatic. The authors describe 30 children with intracranial arachnoid cysts in terms of clinical manifestations and relations to the associated brain anomalies or lesions. The mean age at onset of clinical manifestations was 4 years, 7 months (range 1 day to 14 years). The mean age at diagnosis was 6 years, 2 months (range 10 days to 16 years). Most patients with nonprogressive symptoms, such as seizures and headache, had focal epileptiform discharges on electroencephalogram, and they benefited from antiepileptic drugs. Surgery resulted in only partial reduction in both cyst size and seizure frequency in patients with intractable seizures, and it also failed to improve some neurologic signs, such as sexual precocity or cranial neuropathy resulting from long-term compression of arachnoid cysts. We conclude that the only absolute indication for surgery is the presence of progressive hydrocephalus or intracranial hypertension. The associated anomalies or lesions include brain tumors, giant nevocellular nevi, achondroplasia, microphthalmia, intracystic hemorrhage, dysgenesis of the corpus callosum, and heterotopia.
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PMID:Intracranial arachnoid cysts in children: related signs and associated anomalies. 974 27

We report a 34-year-old woman with linear sebaceous nevus syndrome and dolichomegalic artery. The patient was admitted to our hospital for evaluation of a headache and fever. Neurological examination revealed no focal sign except neck stiffness. She had had sebaceous nevi on the left side of her head, cheek and neck since she was born. A cranial CT scan showed high signal intensity in the subarachnoid space. Cranial MRI showed a dolichomegalic artery. The patient's past history included many episodes of headache and fever since her first decade of life and she had been diagnosed five times with cerebrovascular disease. At the present admission, subarachnoid hemorrhage was diagnosed and treated. The patient improved and was discharged on the 21st day. Linear sebaceous nevi are associated with many types of anomalies, but we found no other reported cases of linear sebaceous nevus syndrome associated with a cerebrovascular anomaly. This case suggests that a patient with sebaceous nevi who presents with headache and fever should be examined with careful attention to the cerebrovascular system.
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PMID:[A case of linear sebaceous nevus syndrome associated with a cerebrovascular anomaly]. 980 99

Sturge-Weber syndrome is characterized by the presence of a port-wine nevus, epilepsy, stroke-like episodes, headache, and developmental delay. We studied 20 cases to test the hypothesis that decreased cerebral blood flow alters neurologic function by affecting cellular glucose metabolism. Group A consisted of 10 patients with a mean age of 1.75 years and early seizure onset (6.8 months), whereas group B was composed of older patients (mean age, 15.3 years) with later onset of seizures (3.7 years). Neurologic disease was more severe in group A, but group B had more widespread structural brain defects - shown on computed tomographic scans and magnetic resonance imaging - and metabolic brain defects shown on hexamethylpropyleneamine oxime and [18F] fluorodeoxyglucose single photon emission computed tomographic scans. Six group A cases had hypoperfusion at baseline and five of nine had worsening of perfusion and glucose metabolism 1 year later. A total of 119 stroke-like episodes occurred in six group A cases and eight group B cases; there were 65% fewer strokes in children treated with aspirin. The data suggest that progressive hypoperfusion and glucose hypometabolism are associated with neurologic deterioration in Sturge-Weber syndrome. Longitudinal studies are needed to better define the natural history of disease and to evaluate the safety and efficacy of aspirin therapy.
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PMID:Central nervous system structure and function in Sturge-Weber syndrome: evidence of neurologic and radiologic progression. 988 31

We report a patient of atypical type of Sturge-Weber syndrome who demonstrated a reversible change by MRI FLAIR method in ictus and postictal state. A 5-year-old boy was admitted to our hospital because of severe headache, vomiting and loss of consciousness with his eyes conjugated to left for a few minutes. He had no facial nevus and other abnormal findings in physical examination. CT scan showed two small calcifications in the right occipital lobe. Postcontrast T 1-weighted image of MRI demonstrated a right parieto-occipital leptomeningeal enhancement. We diagnosed this case as an atypical type of Sturge-Weber syndrome. Although, on admission, FLAIR method showed the area of high signal intensity, after anticonvulsant therapy, those abnormal area disappeared. It is presumably detected by FLAIR method slight extravasation of plasma element in the surface of the brain due to regional hyperperfusion in ictus.
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PMID:[A case of atypical type of Sturge-Weber syndrome demonstrated reversible change by MRI FLAIR method in ictus and in postictal state]. 1045 52

Familial cerebral cavernous malformation (CCM) is an autosomal dominant disorder producing vascular anomalies throughout the central nervous system associated with seizures and hemorrhagic stroke. Linkage analysis has shown evidence for at least three genetic loci underlying this disorder with a founder mutation in the Mexican/Hispanic community. We report the first family of Chinese ethnic origin with CCM having a novel mutation in the CCM1 gene. The mutation in exon 19 causes a premature stop codon (Q698X) predicted to produce a truncated Krev1 interaction-trapped 1 (KRIT1) protein. Members of the family with this mutation have a wide range in age of onset with seizures, ataxia, spinal cord vascular malformation, headaches and skin lesions. An additional unrelated sporadic subject with brain lesions compatible with CCM as well as vascular skin findings suggesting the blue rubber bleb nevus (BRBN) syndrome has no mutation detected in the CCM1 gene. These findings expand the phenotype of and demonstrate further evidence for the heterogeneity in the CCM syndrome.
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PMID:Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity. 1195 62


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