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PubMed1996

Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases.

We made a retrospective evaluation of clinical and radiologic features, treatment, and outcome of Erdheim-Chester disease, a rare non-Langerhans cell histiocytosis. We had 7 patients coming from 3 French teaching hospitals and reviewed 52 cases from the literature. These cases were considered to have Erdheim-Chester disease when they had either typical bone radiographs (symmetrical long bones osteosclerosis) and/or histologic criteria disclosing histiocytic infiltration without features for Langerhans cell histiocytosis (no S-100 protein, no intracytoplasmic Birbeck granules). Ages at diagnosis ranged from 7 to 84 years (mean +/- SD = 53 +/- 14 yr) with a male/female ratio of 33/26. Bone pain was the most frequent clinical sign (28/59), mostly located in the lower limbs. Exophthalmos and diabetes insipidus were found in respectively 16/59 and 17/59 patients. General symptoms (fever, weight loss) and "xanthomas" (mainly located on the eyelids) were present in 11/59 patients. Retroperitoneal involvement was found in 17/59 patients. Skeletal X-ray showed typical osteosclerosis of the diaphysis of the long bones in 45/59 patients. Bone radiographs showed osteolytic lesions of the flat bones (skull, ribs) in 8 patients. Histologic diagnosis was performed after a bone biopsy (28 patients), a retroorbital biopsy (9 patients), and/or a biopsy of the retroperitoneal infiltration or the kidney (11 patients). Six of our 7 patients but only 5 of 52 patients from the literature had the complete histologic criteria, disclosing no Birbeck granules or S-100 immunostaining. In other cases, histologic results usually described a xanthogranulomatous infiltration by foamy histiocytes nested in fibrosis. Treatment was corticotherapy (20/59), chemotherapy (8/59), radiotherapy (6/59), surgery (3/59) and immunotherapy (1 patient). Twenty-two patients died after a mean follow-up of 32 +/- 30 mo (range, 3-120 mo). In conclusion, Erdheim-Chester disease may be confused with Langerhans cell histiocytosis as it sometimes shares the same clinical (exophthalmos, diabetes insipidus) or radiologic (osteolytic lesions) findings. However, it also appears to have distinctive features. Patients are older and have a worse prognosis than those with Langerhans cell histiocytosis, and the diagnosis relies on the association of specific radiologic and histologic findings.

Adolescent↗
PubMed2005

Benign symmetric lipomatosis (Launois-Bensaude syndrome).

A 37-year-old woman with a personal history of appendicectomy, cholecystectomy, left oophorectomy secondary to an ovarian cyst complication, nephritic colic with repeated episodes of pyelonephritis, alcoholic hepatopathy, Raynaud's phenomenon and bilateral exophthalmos showed an increase in volume in the root of the upper limbs and in the base of the neck over a period of 4 years, painful to the touch and of a soft consistency. She presented with a pseudo-athletic appearance (Fig. 1) produced by an increase in the volume at the root of the upper limbs, upper back and the back of the neck (Fig. 2). The lesions produced a pulling sensation and were associated with paresthesia, hyperesthesia, and a moderate loss of strength in both arms. A biopsy taken from the upper third of the right arm showed a diffuse proliferation of the subcutaneous adipose tissue, which appeared normal, and extended between the collagen fibers, reaching in some cases into the most superficial zones of the reticular dermis (Fig. 3). Laboratory evaluation revealed a chronic anemia, leukopenia with moderate lymphopenia, increased erythrocyte sedimentation rate, elevation of enzymes of hepatic function, decrease in total proteins, and increase in ferritin, all in the context of hepatopathy. Antinuclear antibodies and the hormonal profile were normal. Abdominal and gynecologic echography revealed a right ovarian cyst of no clinical relevance. Cranial nuclear magnetic resonance (NMR) revealed an increase in the periorbital fat responsible for bilateral exophthalmos.

Adult↗
PubMed1976

Spontaneous carotid-cavernous fistulas. Clinical symptomatology.

The symptomatology in six cases with spontaneous carotid-cavernous fistulas is discussed. All six patients presented with exophthalmos, dilated veins, pain and restriction of ocular movements. In four patients a bruit was found objectively as well as subjectively, four patients exhibited an increase of the intraocular pressure and in three cases vision was impaired. Of special interest is the finding that discrete symptoms such as venous congestion and slight pain appeared early in the course of the disease in all patients, and that in some of the patients an increase in intraocular pressure as well as disturbances in ocular motility were diagnosed long before the appearance of the exophthalmos.

Adolescent↗
PubMed1983

Mycosis fungoides: subcutaneous and visceral tumors, orbital involvement, and ophthalmoplegia.

A patient with advanced severe mycosis fungoides presented several unusual features, including prominent lesions of the palate and tongue and an orbital tumor with exophthalmos and ophthalmoplegia. A hitherto undescribed feature was the development of multiple, massive subcutaneous tumors unrelated to the dermis or to lymph nodes, and large tumors in the connective tissues of the buttock, flank, and retroperitoneum. The usual sites of extracutaneous dissemination of mycosis fungoides--lymph nodes, spleen, liver, lungs, and blood--were not demonstrably involved. This may be a new pattern of dissemination for this disease. Of practical importance is the immediate and complete relief of exophthalmos and ophthalmoplegia that was obtained with emergency radiotherapy.

Aged↗
PubMed1983

Sclerosing orbital pseudotumor.

We report two patients who underwent orbital exploration yielding the diagnosis of sclerosing orbital pseudotumor. The presenting symptoms were exophthalmos, visual loss, abnormal ocular mobility, and ocular pain. Computed tomographic (CT) scans showed masses in the orbital apex. Steroids were ineffective. Orbital pseudotumor is a heterogeneous diagnostic category of lymphoid infiltrations of the orbit with a wide spectrum of pathological conditions and intraorbital locations. The clinical presentation typically includes the sudden onset of pain, diplopia, lid edema, and exophthalmos. Visual loss is uncommon. Most cases resolve spontaneously or respond to steroid treatment. Although fibrosis may be a prominent histological finding, the literature contains little information concerning its significance. We discuss the evidence for considering the sclerosing pseudotumors to be a significant variant with unique clinical behavior. Although features suggestive of pseudotumor were present in our case, the presence of visual loss and an apical mass shown on the CT scan led to the presumptive diagnosis of tumor and exploratory operation. Neurosurgeons should be aware of this entity as a cause of visual loss and orbital mass. Proper suspicion may in some cases permit transorbital biopsy and avoid craniotomy, inasmuch as operation is of no therapeutic benefit in this disease.

Adult↗
PubMed1999

Quantitative CT of the orbit in Graves' disease.

In order to determine the value of quantitative CT of the orbit in patients with Graves' disease, we clinically examined 174 orbits of 87 patients with Graves' disease and evaluated them by CT in respect to the density and size of the extraocular muscles, the globe position and the width of the optic nerve-sheath complex. We also determined the normal ranges for density of extraocular muscles in 200 normal orbits of 100 patients for comparison. Normal ranges for the density of extraocular muscles were (mean +/- 2 SD) medial rectus, 28-63 HU; lateral rectus, 24-78 HU; inferior rectus, 20-64 HU; superior muscle group, 28-62 HU. 51 of 77 (66%) patients with Graves' disease had extraocular muscle density changes. Some extraocular muscles showed fatty infiltration on CT. 50 of 87 (57%) patients had at least one enlarged extraocular muscle, 47 (54%) patients had exophthalmos and 59 (68%) patients had either exophthalmos and/or extraocular muscle enlargement. A diagnosis of Graves' ophthalmopathy was made in 69 of 87 (79%) patients using CT and in 50 (57%) patients by clinical examination. We conclude that quantitative CT imaging of the orbit with evaluation of the size and density values of extraocular muscles and the globe position may be very helpful in detecting ophthalmopathy in patients with Graves' disease.

Adolescent↗
PubMed1983

[2 cases of Hashitoxicosis with histological features of adenomatous goiter].

Two male patients with 'Hashitoxicosis', who revealed histologic pictures of adenomatous goiter in addition to findings of chronic thyroiditis, are described. Case 1. A 55-year-old man was admitted on May 7, 1981, for evaluation of hyperthyroidism. He had exophthalmos with positive Moebius and von Graefe's signs, and a firm, asymmetrically enlarged non tender thyroid gland with multiple cysts. The BMR was +60%, T4 26.4 micrograms/dl, free T4 7.2 ng/dl, T3 5.62 ng/ml and 24 hr radioiodine uptake 49.5%. TSH was undetectable and did not respond to TRH. 123I scan showed multiple defects in the bilateral upper poles of the thyroid gland. Antithyroglobulin and antimicrosomal antibodies were positive. He then underwent a total thyroidectomy with removal of multinodular goiter. The mutinodular goiter was associated with cystic degeneration which contained the thyroid hormone-rich fluid. Histologic examination revealed multiple adenomatous nodules and lymphocytic infiltration and degeneration in the surrounding tissues of the nodules. Case 2. A 43-year-old man was admitted on May 14, 1975, because of an 8 month history of hand tremor, weight loss (5 kg), facial and upper palpebral edema and an enlarged thyroid. He had mild exophthalmos and a firm, asymmetrically enlarged thyroid gland with multiple nodules. The BMR was +35%, T4 20.0 micrograms/dl, T3(Resomat) 0.78 ng/ml and PBI 20.0 micrograms/dl. TSH was 1.0 muU/ml and responded slightly to TRH. 24 hr radioiodine uptake was 84.4% and did not respond to T3 administration. Antithyroglobulin and antimicrosomal antibodies were positive. 123I scan showed diffusely increased uptake and no defects. Histologic examination of the biopsy specimen of the thyroid gland showed multiple adenomatous nodules in addition to typical findings of chronic thyroiditis in the surrounding tissues of the nodules. From the above observations, it is suggested that multiple adenomatous nodules accompanying chronic thyroiditis show clinical features resembling Basedow's disease rather than Plummer's disease.

Adenoma↗
PubMed2005

Natural course of hematoma in lateral rectus muscle followed by magnetic resonance imaging.

We report a patient with a spontaneous intramuscular hematoma in the lateral rectus muscle of the eye that resolved without medication with maintenance of good vision. A 40-year-old woman presented with ocular pain and exophthalmos in her right eye. She had no history of trauma or surgery. Exophthalmos and limitation of abduction and supraduction of her right eye were present at the initial examination. Magnetic resonance (MR) images showed an intramuscular hematoma in the right lateral rectus muscle. Her other ocular findings were within normal limits. Five months later without any treatments, the MR images were within normal limits, and her ocular signs and symptoms were completely resolved. Careful observations including MR imaging is sufficient for patients with a spontaneous intramuscular hemorrhage in the extraocular muscle, and the visual prognosis is good.

Adult↗
PubMed1989

[Post-operative cyst and orbital walls: a CT image analysis].

A set of coronal CT images obtained by 118 side (109 cases) of post-operative cysts of maxilla, seen from 1982 to 1988, was analyzed as to the orbital wall affections. Coronal images were grouped into five consecutive planes, i.e. the first plane being the one which is 5mm posterior to the nasion, and the other planes in successive orders each being 5mm apart. The orbital walls were classified into inferior, medial, and transition of these two. The orbital wall affections were classified into dehiscence, thinned-out (less than 1mm), and normal. The orbital signs and symptoms (epiphora, pain, asthenopia, visual loss, diplopia, and exophthalmos) were analyzed based upon the questionnaires by patients. The inferior wall affections (dehiscence and thinned-out) were seen most often (57%) at the third plane (2cm posterior to the nasion). The orbital signs and symptoms in general were seen in half of the cases of which 20% were of grave (visual loss, diplopia and exophthalmos). These signs and symptoms were the more often, the more anterior the site of affections located. Grave signs and symptoms were seen at 2 to 2.5cm posterior to the nasion when the orbital floor was affected and the inferior rectus were either pushed up or in direct contact with the cysts.

Adolescent↗
PubMed1999

[Carl Adolph von Basedow--on the 200th anniversary of his birth].

Carl Adolph von Basedow was the son of an aristocratic family and was born 1799 in Dessau. He was the grandson of the famous pedagogue Johann Bernhard Basedow. He studied medicine at the university of Halle and spent two years in the surgical service of Paris hospitals--the Charité and the Hôtel Dieu. In 1822, he settled in Merseburg as a physician. He was soon acclaimed as a genial and skilled helper in all branches of medical practice. He performed his own post-mortem examinations and published findings on a number of different diseases. His famous contribution in the thyroid field appeared in 1840 entitled "Exophthalmos due to hypertrophy of the cellular tissue in the orbit". Exophthalmos, goiter and palpitation of the heart have become known as the Merseburg Triad. In 1848, he published the autopsy findings on a patient who died from "exophthalmic cachexia". In Germany and some other countries, the disease was named as Morbus Basedow since 1858. In 1854 he pricked in his finger in the postmortem room when examining a patient who had died of typhus and he succumbed to septicemia at the early age of fifty-five. The date of his death was April 11, 1854. On April 14, he was laid in the Sixtus Cemetery in Merseburg. Basedow postulated that a wrong mixing of the blood manifested in cell tissue congestion and glandular vegetation cause the manifestations of disease. If we abstract our modern knowledge and accept circulating antibodies and disturbance of the immune balance as a dyscrasia as well as the proliferation of lymphocytic clones and local cellulary infiltration in terms of immune thyroiditis and autoimmune orbitopathy as cell tissue congestion and glandular vegetations, then doubt arise whether we have indeed made much progress in the last 150 years. At least, respect for the genius of the general physician Carl Adolph von Basedow is becoming greater. We may all hope that in the contributions and the discussions, we shall learn where we stand at the end of the century and what new avenues of research are appearing on the horizon.

Germany↗
PubMed2000

[A case of giant skull myofibroma occupying left anterior cranial fossa].

We report a rare case of giant skull myofibroma occupying left anterior cranial fossa. A 53-year-old woman presented with left exophthalmos for 2 years. Neurological examination showed left exophthalmos, disturbance of bilateral visual acuity, and bitemporal hemianopsia. A CT scan revealed an ossifing mass at left anterior cranial fossa. On magnetic resonance images, the tumor showed iso-intensity on T 1-weighted image, heterogeneous high intensity on T 2-weighted image, and was heterogeneously well-enhanced after administration of Gd-DTPA. The tumor was fed mainly by middle meningeal artery. The patient underwent surgery and the tumor was removed totally. Histological diagnosis of the tumor was myofibroma. The patient has been followed every other month by MRI without any adjuvant therapy. There has been no tumor recurrence for 19 months. There is no other myofibroma in her body, therefore the patient was diagnosed as solitary myofibroma of the skull. Our case is the first report of solitary myofibroma of the skull because we could not find any reports on solitary myofibroma of the skull in the past literature.

Female↗
PubMedDate not supplied

[Euthyroid Graves' disease (problems of diagnosis and treatment)].

Twenty-six patients with endocrine ophthalmopathy without signs of thyroid disease (according to ultrasonic scanning, measurements of free thyroxin and thyrotropic hormone-TTH) were examined. Edematous exophthalmos in the compensated stage was diagnosed in 13 patients, subclinical stage of this condition in 10, and endocrine myopathy in 3 patients. Russian drug thyroliberin was used for accurate diagnosis of thyroid dysfunction; injection of this drugs to normal subjects leads to a drastic (3.5-5-fold) increase of TTH level. After measurement of TTH, the drug was infused intravenously by jet injection in a dose of 500 micrograms. Ten normal subjects were controls. 30 min after thyroliberin injection, TTH was measured. It was sharply increased in half of patients and in the control group. In one-third of cases (mainly with edematous exophthalmos) TTH level increased negligibly or even decreased after the test. After 1.5-2 years, signs of hyperthyrosis manifested in one-third of this group of patients. The authors consider that patients with the so-called Graves' disease are at a high risk of thyroid abnormalities and should be regularly consulted by both ophthalmologist and endocrinologist.

Adult↗
PubMed2001

Hypofractionated radiotherapy for Graves' orbitopathy.

BACKGROUND: Radiotherapy (RT) has been proven effective in the management of Graves' orbitopathy in numerous studies. Most commonly is the use of conventional fractionated RT and the value of hypofractionated irradiation has not been investigated. MATERIALS AND METHODS: The results in 33 euthyroid cases who underwent RT with a total dose of 21.0 Gy given in three weekly fractions of 3.0 Gy are retrospectively analyzed. The duration of symptoms ranged from 1-84 months and all of the cases had treatment failure after previous administration of corticosteroids. After a mean follow-up period of 33.6 months the overall results were assessed according to the criteria by Donaldson et al. and for evaluation of the clinical outcome a classification with the main criteria being eye-lid changes, exophthalmos, myopathy and eye nerve involvement was used. RESULTS: At follow-up, the overall response to RT was 84.8% (28/33 cases). The analysis with the clinical classification demonstrated that in 19/33 (57.6%) cases occurred a decrease of eye lid changes and exophthalmos and 12/33 (36.4%) had a relief of myopathy. 2/33 cases (6.0%) developed an eye nerve compression causing the necessity of surgical decompression. 3/33 cases (9.0%) had a progression of at least of one of the single criteria of the score and therefore they were classified as non-responders. CONCLUSIONS: Hypofractionated RT has been proven effective for treatment of severe cases of Graves' orbitopathy in cases with a prolongated duration of symptoms. The comparison with literature data demonstrate that the results after hypofractionated RT are comparable to those obtained after conventional fractionated RT.

Adult↗
PubMed1998

[The manifestations of 496 cases with thyroid-related immune orbitopathy and normal thyroid function].

OBJECTIVE: To observe the clinical manifestations of thyroid-related immune orbitopathy (TRIO) with normal thyroid function. METHODS: 496 cases with TRIO were collected from 1973 to 1994 and their clinical manifestations were analyzed. RESULTS: The clinical manifestations showed that males are more than females. The disease occurred in middle aged persons with unilateral exophthalmos as the primary early manifestation. Most of the cases had the signs of eyelids and extraocular muscle involvement. CONCLUSIONS: The thyroid-related immune orbitopathy with normal thyroid function can be named thyroid-related immune orbitopathy-II. The clinical characteristics of this disease are unilateral, of signs of eyelids, exophthalmos and enlargement of eye muscles. The pseudo-tumors of the orbit are mainly considered for differential diagnosis.

Adolescent↗
PubMedDate not supplied

Graves' disease associated with myasthenia gravis: report of one case.

Exophthalmos occurs in more than half of the patients with childhood Graves' disease, while severe Graves' ophthalmopathy is uncommon in children. Myasthenia gravis is even more rare in association with Graves' disease. A 7-year-old girl is reported; she had ptosis for two years; this was treated irregularly, and she then developed exophthalmos, ophthalmoplegia and thyroid goiter. Her laboratory tests showed T3 496 ng/dl, T4 17.05 ug/dl, TSH < 0.1 uU/ml, fT4 > 4.2 ng/dl. Antithyroglobulin antibody was 1:25600 and antimicrosomal antibody was 1:102400. Myasthenia gravis was confirmed by a positive neostigmine test. Due to allergic reaction to propylthiouracil, she was treated with carbimazole and propranolol. Thereafter the thyrotoxicosis was was well controlled. The ocular-type myasthenia gravis remained stable with minimum medical treatment.

Child↗
PubMed1992

Fine needle aspiration biopsy--a critical investigation in thyrotoxicosis.

Four hundred and fifty two patients having clinical features of thyrotoxicosis have been studied for their hormonal (T4, T3 and TSH) content, I131 uptake levels and FNAB at repeated intervals. Four hundred and twenty seven had presented with diffuse enlargement and rest 25 cases with nodular enlargements. Of the primary hyperthyroidism cases 342 (82.4%) were of Grave's disease without exophthalmos and 73 (17.6%) with exophthalmos. T4, T3 and I131 uptake levels have correlated well with the degree of morphological changes as observed on FNAB. Degree of nuclear pleomorphism has correlated well with the duration of disease. Critical evaluation of morphological changes on FNAB has been done in all cases of primary hyperthyroidism being treated with neomercazole and radioactive iodine therapy. Treatment with neomercazole had shown, good correlation between time lag and the retrogressive changes. This was not so in cases treated with radioactive iodine therapy. Various known complications of radioactive treatment e.g. development of hypothyroidism, refractory and recurrent hyperthyroidism, exacerbation of the disease, radiation thyroiditis, and severe degree of dysplastic changes could be demonstrated in some cases on serial aspirations.

Biopsy, Needle↗
PubMed1991

[Analysis of early results of combined treatment with glucocorticoids and telecobalt therapy for Graves' disease ophthalmopathy].

Early results of combined use of glucocorticoid administration and irradiation with radioactive cobalt for treatment of oedematous-infiltrative ophthalmopathy associated with Graves' disease have been analyzed in a group of 33 patients including 28 women and 5 men of age between 25 and 66 years (mean age 47.3 years). The combined therapy was a modification of the original method of Bartalena et al. which consisted in the gradual increase of the initial dose of glucocorticoids and prolongation of the period of administration of the drug. The ophthalmic lesions were assessed by thorough ophthalmologic examination and classified according to Werner. The ophthalmopathy index was calculated according to Donaldson. Satisfactory results of treatment have been obtained in 32 patients, with 9 patients being completely relieved from any objective or subjective ophthalmic symptoms (very good results), and 23 patients having still small afflictions originating from the soft tissues of the eye socket, exophthalmos, diplopia during marginal vision and a decreased visual acuity (good results). The clinical recovery was mostly connected with the improvement in the condition of soft tissues of the eye socket, cornea and external ocular muscles and, to a smaller extent, exophthalmos which persisted to some degree and acuity of vision not always attaining normal values. In one person the results of treatment were unsatisfactory despite some improvement. Very good and good results obtained in 97% of patients indicate that the administration of glucocorticoids combined with the irradiation of retrobulbar tissues with radioactive cobalt can now be regarded as the most effective method of treatment of the progressive oedematous-infiltrative ophthalmopathy.

Adult↗
PubMed2004

[Carl Adolph von Basedow--150th anniversary of his death].

Carl Adolph von Basedow was the son of an aristocratic family and was born 1799 in Dessau. He was the grandson of the famous pedagogue Johann Bernhard Basedow. He studied medicine at the university of Halle and spent two years in the surgical service of Paris hospitals--the Charité and the Hôtel Dieu. In 1822, he settled in Merseburg as a physician. He was soon acclaimed as a genial and skilled helper in all branches of medical practice. He performed his own post-mortem examinations and published findings on a number of different diseases. His famous contribution in the thyroid field appeared in 1840 entitled "Exophthalmos due to hypertrophy of the cellular tissue in the orbit". Exophthalmos, goiter and palpitation of the heart have become known as the Merseburg Triad. In 1848, he published the autopsy findings on a patient who died from "exophthalmic cachexia". In Germany and some other countries, the disease was named as Morbus Basedow since 1858. In 1854 he pricked in his finger in the postmortem room when examining a patient who had died of typhus and he succumbed to septicemia at the early age of fifty-five. The date of his death was April 11, 1854. On April 14, he was laid in the Sixtus Cemetery in Merseburg. Basedow postulated that a wrong mixing of the blood manifested in cell tissue congestion and glandular vegetation cause the manifestations of disease. If we abstract our modern knowledge and accept circulating antibodies and disturbance of the immune balance as a dyscrasia as well as the proliferation of lymphocytic clones and local cellulary infiltration in terms of immune thyroiditis and autoimmune orbitopathy as cell tissue congestion and glandular vegetations, then doubt arise whether we have indeed made much progress in the last 150 years. At least, respect for the genius of the general physician Carl Adolph von Basedow is becoming greater. We may all hope that in the contributions and the discussions, we shall learn where we stand at the end of the century and what new avenues of research are appearing on the horizon.

Germany↗