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Several different types of magnetic resonance imaging (MRI) may be employed in diagnosis: MRI without contrast, Gd contrast enhanced T1-weighted MRI (GdT1W) or T2-weighted enhanced MRI (T2W or T2*W). Non-contrast enhanced MRI is considerably less expensive than any of the contrast enhanced MRI scans. The gold standard in diagnosis is GdT1W MRI.
The reliability of non-contrast enhanced MRI is highly dependent on the sequence of scans, and the experience of the operator.
Before the advent of MRI, electronystagmography and Computed Tomography were employed for diagnosis of acoustic neuroma.
Given the anatomic site, a spindle cell lipoma, nuchal-type fibroma and fibromatosis colli are all included in the differential diagnosis.
Simple excision is the treatment of choice, although given the large size, bleeding into the space can be a potential complication. Isolated recurrences may be seen, but there is no malignant potential.
Differential diagnosis of this condition includes the Birt-Hogg-Dubé syndrome and tuberous sclerosis. As the skin lesions are typically painful, it is also often necessary to exclude other painful tumors of the skin (including blue rubber bleb nevus, leiomyoma, eccrine spiradenoma, neuroma, dermatofibroma, angiolipoma, neurilemmoma, endometrioma, glomus tumor and granular cell tumor; the mnemonic "BLEND-AN-EGG" may be helpful). Other skin lesions that may need to be considered include cylindroma, lipoma, poroma and trichoepithelioma; these tend to be painless and have other useful distinguishing features.
The skin lesions may be difficult to diagnose clinically but a punch biopsy will usually reveal a Grenz zone separating the tumour from the overlying skin. Histological examination shows dense dermal nodules composed of elongated cells with abundant eosinophilic cytoplasm arranged in fascicles (spindle cells). The nuclei are uniform, blunt-ended and cigar-shaped with only occasional mitoses. Special stains that may be of use in the diagnosis include Masson's trichrome, Van Gieson's stain and phosphotungstic acid–haematoxylin.
The renal cell carcinomas have prominent eosinophilic nucleoli surrounded by a clear halo.
Complete surgical excision is the treatment of choice, associated with an excellent long term clinical outcome.
The diagnosis is based on examination under a microscope, by a pathologist. Radiologic findings may be suggestive, as these tumors are well-circumscribed and devoid of calcifications.
Usually, treatment of a lipoma is not necessary, unless the tumor becomes painful or restricts movement. They are usually removed for cosmetic reasons, if they grow very large, or for histopathology to check that they are not a more dangerous type of tumor such as a liposarcoma. This last point can be important as the characteristics of a "bump" are not known until after it is removed and medically examined.
Lipomas are normally removed by simple excision. The removal can often be done under local anaesthetic, and takes less than 30 minutes. This cures the great majority of cases, with about 1–2% of lipomas recurring after excision. Liposuction is another option if the lipoma is soft and has a small connective tissue component. Liposuction typically results in less scarring; however, with large lipomas it may fail to remove the entire tumor, which can lead to regrowth.
New methods under development are supposed to remove the lipomas without scarring. One is removal by injecting compounds that trigger lipolysis, such as steroids or phosphatidylcholine.
It is important to separate hiberoma from adult rhabdomyoma, a granular cell tumor and a true liposarcoma.
Myofibroblastoma of the breast, first described by Wargotz et al. {Am J Surg Pathol. 1987 Jul;11(7):493-502} consist of bland spindle cells arranged in fascicles with interspersed thick bundles of collagen. They typically stain with CD34 and desmin.
In extra-mammary sites the tumour is known as a "mammary-type myofibroblastoma", and may immunohistochemically and histomorphologically overlap with spindle cell lipoma.
Lipomatosis is believed to be a hereditary condition in which multiple lipomas are present on the body.
Adiposis dolorosa (Dercum disease) is a rare condition involving multiple painful lipomas, swelling, and fatigue. Early studies mentioned prevalence in obese postmenopausal women. However, current literature demonstrates that Dercum disease is present in more women than men of all body types; the average age for diagnosis is 35 years.
Benign symmetric lipomatosis (Madelung disease) is another condition involving lipomatosis. It nearly always appears in middle-aged males after many years of alcoholism. But, non-alcoholics and females can also be affected.
Treatment of migraine-associated vertigo is the same as the treatment for migraine in general.
MAV is not recognized as a distinct diagnostic entity. Lembert and Neuhauser propose criteria for definite and probable migraine-associated vertigo.
A diagnosis of "definite migraine-associated vertigo" includes a case history of:
- episodic vestibular symptoms of at least moderate severity;
- current or previous history of migraine according to the 2004 "International Classification of Headache Disorders";
- one of the following migrainous symptoms during two or more attacks of vertigo: migrainous headache, photophobia, phonophobia, visual or other auras; and
- other causes ruled out by appropriate investigations.
A diagnosis of "probable migraine-associated vertigo" includes a case history of episodic vestibular symptoms of at least moderate severity and one of the following:
- current or previous history of migraine according to the 2004 "International Classification of Headache Disorders";
- migrainous symptoms during vestibular symptoms;
- migraine precipitants of vertigo in more than 50% of attacks, such as food triggers, sleep irregularities, or hormonal change;
- response to migraine medications in more than 50% of attacks; and
- other causes ruled out by appropriate investigations.
Note that, in both of the above criteria, headache is not required to make the diagnosis of migraine-associated vertigo.
They add that, in patients with a clear-cut history, no vestibular tests are required. Other historical criteria which are helpful in making the diagnosis of migraine-associated vertigo are vertiginous symptoms throughout the patient’s entire life, a long history of motion intolerance, sensitivity to environmental stimuli, illusions of motion of the environment, and vertigo that awakens the patient.
The diagnosis of TRAPS may show an increased IgD level in a possibly affected individual, other methods to ascertain a definite finding is via the following:
- Blood test
- Genetic test
- Clinical evaluation
Acanthosis nigricans is typically diagnosed clinically. A skin biopsy may be needed in unusual cases. If no clear cause is obvious, it may be necessary to search for one. Blood tests, an endoscopy, or X-rays may be required to eliminate the possibility of diabetes or cancer as the cause.
On biopsy, hyperkeratosis, epidermal folding, leukocyte infltration, and melanocyte proliferation may be seen.
Acanthosis nigricans should be distinguished from the casal collar appearing in pellagra.
Spindle cell lipoma is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men.
The administration of immunotherapy, in association with chemotherapy or tumor removal, .
Benign lipoblastomatosis (also known as an "embryonic lipoma") is a tumor frequently confused with a liposarcoma, affecting exclusively infants and young children, with approximately 90% occurring before 3 years of age.
Intradermal spindle cell lipoma is distinct in that it most commonly affects women, and has a wide distribution, occurring with relatively equal frequency on the head and neck, trunk, and upper and lower extremities.
Angiolipoma is a subcutaneous nodule with vascular structure, having all other features of a typical lipoma. They are commonly painful.
A complete recovery following immunotherapy and tumor removal. Untreated cases died within few months of onset. Some patients have a poor outcome despite sustained immunosuppression, but that is often related to tumor progression or associated with the presence of Abs directed against intracellular Ags such as GAD Abs or amphyphysin Abs, which can reflect the involvement of an additional cytotoxic T-cell mechanism in the progression of the disease.
Surgery
Surgical intervention is warranted in patients who present with new onset neurological signs and symptoms or have a history of progressive neurological manifestations which can be related to this abnormality. The surgical procedure required for the effective treatment of diastematomyelia includes decompression (surgery) of neural elements and removal of bony spur. This may be accomplished with or without resection and repair of the duplicated dural sacs. Resection and repair of the duplicated dural sacs is preferred since the dural abnormality may partly contribute to the "tethering" process responsible for the symptoms of this condition.
Post-myelographic CT scanning provides individualized detailed maps that enable surgical treatment of cervical diastematomyelia, first performed in 1983.
Observation
Asymptomatic patients do not require surgical treatment. These patients should have regular neurological examinations since it is known that the condition can deteriorate. If any progression is identified, then a resection should be performed.
Adult presentation in diastematomyelia is unusual. With modern imaging techniques, various types of spinal dysraphism are being diagnosed in adults with increasing frequency. The commonest location of the lesion is at first to third lumbar vertebrae. Lumbosacral adult diastematomyelia is even rarer. Bony malformations and dysplasias are generally recognized on plain x-rays. MRI scanning is often the first choice of screening and diagnosis. MRI generally give adequate analysis of the spinal cord deformities although it has some limitations in giving detailed bone anatomy. Combined myelographic and post-myelographic CT scan is the most effective diagnostic tool in demonstrating the detailed bone, intradural and extradural pathological anatomy of the affected and adjacent spinal canal levels and of the bony spur.
Prenatal ultrasound diagnosis of this anomaly is usually possible in the early to mid third-trimester. An extra posterior echogenic focus between the fetal spinal laminae is seen with splaying of the posterior elements, thus allowing for early surgical intervention and have a favorable prognosis. Prenate ultrasound could also detect whether the diastematomyelia is isolated, with the skin intact or association with any serious neural tube defects. Progressive neurological lesions may result from the "tethering cord syndrome" (fixation of the spinal cord) by the diastematomyelia phenomenon or any of the associated disorders such as myelodysplasia, dysraphia of the spinal cord.