ESSENTIALS OF DIAGNOSIS in Objective-C

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ESSENTIALS OF DIAGNOSIS
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Headache, worse on straining Visual obscurations or diplopia may occur Level of consciousness may be impaired Other deficits depend on cause of intracranial hypertension or on herniation syndrome Examination reveals papilledema
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There are many causes of pseudotumor cerebri Thrombosis of the transverse venous sinus as a noninfectious complication of otitis media or chronic mastoiditis is one cause, and sagittal sinus thrombosis may lead to a clinically similar picture Other causes include chronic pulmonary disease, endocrine disturbances such as hypoparathyroidism or Addison s disease, vitamin A toxicity, and the use of tetracycline or oral contraceptives Cases have also followed withdrawal of corticosteroids after long-term use In many instances, however, no specific cause can be found, and the disorder remits spontaneously after several months
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A Symptoms and Signs
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Symptoms of pseudotumor cerebri consist of headache, diplopia, and other visual disturbances due to papilledema and abducens nerve dysfunction Examination reveals the papilledema and some enlargement of the blind spots, but patients otherwise look well
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Investigations reveal no evidence of a space-occupying lesion, and the CT scan shows small or normal ventricles MR venography is helpful in screening for thrombosis of the intracranial venous sinuses
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C Laboratory Findings
Lumbar puncture confirms the presence of intracranial hypertension, but the cerebrospinal fluid is normal Laboratory studies help exclude some of the other causes mentioned earlier
2 Neurofibromatosis
Neurofibromatosis may occur either sporadically or on a familial basis with autosomal dominant inheritance Two distinct forms are recognized: Type 1 (Recklinghausen s disease) is characterized by multiple hyperpigmented macules and neurofibromas and type 2 by eighth nerve tumors, often accompanied by other intracranial or intraspinal tumors Among familial cases, the gene for type 1 is located on chromosome 17 and that for type 2 on chromosome 22 Neurologic presentation is usually with symptoms and signs of tumor Multiple neurofibromas characteristically are present and may involve spinal or cranial nerves, especially the eighth nerve Examination of the superficial cutaneous nerves usually reveals palpable mobile nodules In some cases, there is an associated marked overgrowth of subcutaneous tissues (plexiform neuromas), sometimes with an underlying bony abnormality Associated cutaneous lesions include axillary freckling and patches of cutaneous pigmentation (caf au lait spots) Malignant degeneration of neurofibromas occasionally occurs and may lead to peripheral sarcomas Meningiomas, gliomas (especially optic nerve gliomas), bone cysts, pheochromocytomas, scoliosis, and obstructive hydrocephalus may also occur It may be possible to correct disfigurement by plastic surgery Intraspinal or intracranial tumors and tumors of peripheral nerves should be treated surgically if they are producing symptoms
Neff BA et al Current concepts in the evaluation and treatment of neurofibromatosis type II Otolaryngol Clin North Am 2005 Aug;38(4):671 84 [PMID: 16005725] Yohay K Neurofibromatosis types 1 and 2 Neurologist 2006 Mar;12(2):86 93 [PMID: 16534445]
Treatment
Untreated pseudotumor cerebri leads to secondary optic atrophy and permanent visual loss Acetazolamide (250 mg orally three times daily) reduces formation of cerebrospinal fluid and can be used to start treatment Oral corticosteroids (eg, prednisone, 60 80 mg daily) may also be necessary Obese patients should be advised to lose weight Repeated lumbar puncture to lower the intracranial pressure by removal of cerebrospinal fluid is effective, but pharmacologic approaches to treatment are now more satisfactory Treatment is monitored by checking visual acuity and visual fields, funduscopic appearance, and pressure of the cerebrospinal fluid If medical treatment fails to control the intracranial pressure, surgical placement of a lumboperitoneal or other shunt or subtemporal decompression or optic nerve sheath fenestration should be undertaken to preserve vision In addition to the above measures, any specific cause of pseudotumor cerebri requires appropriate treatment Thus, hormone therapy should be initiated if there is an underlying endocrine disturbance Discontinuing the use of tetracycline, oral contraceptives, or vitamin A will allow for resolution of pseudotumor cerebri due to these agents If corticosteroid withdrawal is responsible, the medication should be reintroduced and then tapered more gradually
Skau M et al What is new about idiopathic intracranial hypertension An updated review of mechanism and treatment Cephalalgia 2006 Apr;26(4):384 99 [PMID: 16556239]
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