Ocular sebaceous carcinoma. Two unusual cases, and their histochemical and immunohistochemical findings

BACKGROUND: Since sebaceous carcinomas with a poor prognosis arising from the cutaneous adnexae of the eyelid are sometimes difficult to differentiate from squamous cell carcinoma or basal cell carcinoma on clinical and histopathological findings, definite differentiation between these tumors by additional methods is necessary. OBJECTIVE AND METHODS: To clarify the usefulness of histochemical and immunohistochemical examinations in diagnosing ocular sebaceous carcinoma, histochemical and immunohistochemical studies were carried out on the 2 patients with unusual ocular sebaceous carcinoma. RESULTS: The findings of ocular sebaceous carcinoma, at least in our 2 cases, were almost identical to those of extraocular sebaceous carcinoma. CONCLUSION: Immunohistochemical detection of human milk fat globules subclass 1, human milk fat globules subclass 2, and breast carcinoma-associated antigen 225 was useful for diagnosing ocular sebaceous carcinomas as well as extraocular ones.     

Extraocular muscle involvement in sarcoidosis

BACKGROUND: Sarcoidosis is a granulomatous inflammatory disease that may have a variety of ocular and orbital manifestations. The most common ocular manifestation is uveitis, and the most common orbital manifestation is dacryoadenitis. Extraocular muscle involvement in sarcoidosis has rarely been reported. The authors report a case of sarcoidosis involving the extraocular muscles of a 15-year-old boy with bilateral, painful, external ophthalmoplegia and enlargement of all extraocular muscles on computed tomography (CT) scan. RESULTS: Lateral rectus muscle biopsy and transbronchial lung biopsy showed noncaseating granulomas characteristic of sarcoidosis. Cultures and serologic studies excluded fungal and mycobacterial diseases. Treatment with oral corticosteroids improved symptoms and signs. CONCLUSIONS: The authors report the first case of sarcoidosis in a patient with symptomatic extraocular muscle involvement, and only the third case in which extraocular muscle involvement has been shown histologically.     

Acute painful and red eyes

Pain or redness of the eye are frequent symptoms of out patient ophthalmological visit. Diagnosis is based both on the patient symptoms and a careful eyeball examination. After an eye trauma, it is necessary to check the absence of corneal or subpalpebral foreign body, and the absence of an eyeball laceration or an intraocular foreign body. Without traumatism, pain or redness of the eye suggest an anterior segment pathology with various diagnosis: keratitis is mostly due to bacterial infection, a significant intraocular pressure elevation is frequently due to angle closure glaucoma or inflammation of the anterior uvea in case of iridocyclitis. When pain and redness of the eye are associated with visual impairment, it is mostly due to a severe ocular pathology. In that case an ophthalmological referral is mandatory.     

Still disease in adults

Adult onset Stills disease (ASD), an adult variant of systemic onset juvenile rheumatoid arthritis, is a rare disease entity. The diagnosis is solely a clinical one and often difficult. Clinical and laboratory features are not pathognomonic. The diagnosis of ASD has to be considered in patients with high spiking fever, transient rash, arthralgias, oligo- or polyarticular arthritis, leukocytosis, sore throat, lymphadenopathy and/or splenomegaly, liver dysfunction and high serum ferritin levels. We give a brief review of the clinical features, differential diagnosis, treatment and prognosis.     

Cardiac myxoma: a diagnostic challenge for the neurologist

Three patients with left atrial myxoma presented with prominent neurologic symptoms and signs (cerebrovascular disease and/or syncope) within the past year. Two patients died because antemortem diagnosis was late or missed. One patient was successfully treated. Cardiac myxoma produces protean clinical manifestations that do not always include cardiac signs and symptoms. Neurologists may be called on for diagnostic consultation in patients who will prove to have cardiac myxoma. Unexplained transient ischemic attacks, cerebral infarction, or syncope (with possible features of seizure activity) are common neurologic manifestations of this disease. Additionally, systemic symptoms, signs, and laboratory data suggestive of collagen vascular disease or vasculitis are also often present. Echocardiography is a dependable noninvasive procedure for a confirmation of diagnosis in suspected cases.     

Diagnosis of systemic causes of uveitis; a matter of ophthalmologist and internist

OBJECTIVE: To assess how often the aetiology is established in patients with uveitis, what systemic disease are found and what is the contribution of the internist to the diagnostic process. DESIGN: Retrospective study. SETTING: University Hospital Leiden, the Netherlands. METHOD: From January 1987 to April 1992, 342 patients presented with uveitis. All patients underwent a standard ophthalmological examination. Referral to an internist and individualised laboratory screening followed in patients with recurrent, chronic, bilateral or panuveitis. Recorded were: ophthalmological data, results of laboratory screening, results of analysis by the internist, final diagnosis and presence of systemic disease. RESULTS: 149 (44%) patients were examined by the internist, 18 (5.2%) were seen by another specialist. In 169 (49%) patients a specific diagnosis was made. 74 (22%) had a systemic disease, 74 a primary ocular disease. In 28 (8%) a systemic disease was presumed (5% were HLA-B27 positive, 3% had abnormal laboratory results); 5 (1%) patients had endophthalmitis as a complication of a septic process. CONCLUSION: In approximately 1/3 of the patients with uveitis a systemic disease was found. Examination by the internist tailored to the individual patient is essential in the evaluation of uveitis patients.     

Vertebral body osteomyelitis: spectrum and natural history. A retrospective analysis of 37 cases

There has been a definite change in the natural history of vertebral osteomyelitis. At the turn of the century the disease was most often seen in younger people, accompanied by a high incidence of abscess formation and associated with a high mortality rate. Today the disease is more commonly seen in the older age groups and is only occasionally characterized by abscess formation. In addition it tends to be of a lower grade inflammatory reaction and has a better prognosis. A urinary tract infection is a common pre-existing condition. Diagnosis may be difficult particularly before the onset of destructive changes radiologically at 8 to 12 weeks. Biopsy by either open or closed methods might be necessary to establishe the diagnosis and isolate the causative organism which is usually Staphylococcus aureus. Epidural infection is the most devastating complication, particularly if neglected. The duration of treatment is determined by following the clinical symptoms, sedimentation rate, temperature curve and interval radiological changes. The prognosis is good and most patients will recover within one year.     

Occlusive arterial disease of the hand due to repetitive blunt trauma: a review with illustrative cases

OBJECTIVE: to increase clinical awareness of the role of repetitive blunt trauma, often occupational, in the development of occlusive arterial disease of the hand. STUDY DESIGN: illustrative cases are presented to emphasize the varied etiology and clinical features of occlusive arterial disease of the hand resulting from repetitive blunt trauma and an historical review of the literature is presented. RESULTS: Occlusive arterial disease of the hand due to repetitive blunt trauma is a common but often preventable disorder. The superficial location of many of the arteries of the hands and digits plus their close proximity to the bones of the hand makes them uniquely susceptible to injury from repetitive blunt trauma. An ever increasing number of occupations and leisure activities have been causally related to occlusive arterial disease of the hand. The diagnosis of occupational occlusive arterial disease due to blunt trauma is suggested by eliciting a history of repetitive blunt trauma to the hand in a patient with symptoms and/or signs of digital ischemia. The dominant hand is most commonly involved, but the non-dominant hand or both hands are affected in certain occupations. Possible predisposing or aggravating factors include tobacco use and working in a cold environment. The diagnosis of occlusive arterial disease confined to the hand or digits is confirmed by non-invasive studies in the vascular laboratory and demonstrated by arteriography. Conservative measures and protection of the hand from further trauma is sufficient for most patients, with surgical therapy being reserved for patients refractory to medical therapy or those with more severe ischemia. CONCLUSION: occlusive arterial disease of the hand may be more common than formerly thought and is often preventable by the proper use of hand tools or instruments and hand protection. This is another type of occlusive arterial disease in which tobacco may be a predisposing or aggravating factor.     

Orbital myositis

Orbital myositis is a subgroup of the nonspecific inflammatory syndrome or orbital pseudotumor and is characterized by a primary inflammation of extraocular muscles. The authors describe a 70-year-old patient with acute proptosis, ocular pain and right ophthalmoplegia, whose orbital computed tomographic scan showed enlargement of the homolateral extraocular muscles. Clinical presentation and complementary tests were compatible with the diagnosis of orbital myositis however, because of the particular aspects, which included retinal central vein occlusion, optic nerve lesion, distension of the superior ophthalmic vein and the homolateral cavernous sinus, the differential diagnosis with cavernous sinus pathology and thyroid ophthalmopathy was considered. The importance of a rapid diagnosis and treatment is stressed.     

The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy

This study reports on a detailed clinical, electrophysiological, muscle computed tomography (CT) and laboratory investigation carried out on five families with definite linkage to chromosome 2p. Some clinical and laboratory features were common to most of the patients, such as the very high serum creatine kinase (CK) levels (mean 43.70 times the normal). The onset was most frequently in the late teens or early twenties with weakness and wasting of the pelvic girdle muscles. All patients had normal motor milestones and had not complained of any symptoms of muscle disease in early childhood. The clinical course was variable both between and within some families, but was most often slowly progressive. Some variability in the pattern of muscle involvement between the different families has also been observed.     

Extraocular muscles: basic and clinical aspects of structure and function

Although extraocular muscle is perhaps the least understood component of the oculomotor system, these muscles represent the most common site of surgical intervention in the treatment of strabismus and other ocular motility disorders. This review synthesizes information derived from both basic and clinical studies in order to develop a better understanding of how these muscles may respond to surgical or pharmacological interventions and in disease states. In addition, a detailed knowledge of the structural and functional properties of extraocular muscle, that would allow some degree of prediction of the adaptive responses of these muscles, is vital as a basis to guide the development of new treatments for eye movement disorders.     

Central effects of iohexol and iopamidol, non-ionic contrast media

BACKGROUND: The relationship between uveitis anterior in childhood and juvenile chronic arthritis (JCA, respectively JRA) has been known since 1950. In a review, the clinical picture of uveitis anterior, its prevalence, pathogenesis, prognosis and current therapy of ocular complications are presented. In addition, we will report our results of a clinical study. PATIENTS AND METHODS: In a cross-sectional study, 64 patients with juvenile chronic arthritis (JCA) had an ophthalmological screening for eye complications either from the disease itself or from the treatment. RESULTS: In 16% of the patients, an iridocyclitis was found, in one case acute, in 9 cases chronic. The cases of chronic uveitis anterior showed in 43% a combination with the classic risk factors (ANA-positive, oligoarticular, female). At the beginning of uveitis, the patients had a mean age of 81 months, at the beginning of JCA disease a mean age of 37 months. Four of 10 patients (= 40%) had eye complications from uveitis (cataract, posterior synechiae, glaucoma). Complications from therapy were found in 27%, mostly cataract as a complication of systemic and topical steroid treatment. Eighteen % had a visual acuity of 0.4 or less. CONCLUSIONS: Because of the often asymptomatic progression of chronic uveitis anterior, the risk of severe undetected eye complications is high. Therefore, an intensive interdisciplinary cooperation between rheumatologists, pediatrics and ophthalmologists is required.     

High resolution, dynamic, magnetic resonance imaging in complicated strabismus

Strabismus cases, especially after previous surgery or trauma to extraocular muscles, often present diagnostic challenges. Conventional clinical tests are helpful in some cases but may be inconclusive. High resolution, dynamic, orbital magnetic resonance imaging (MRI) may yield additional critical information about orbital and extraocular muscle anatomy and function. We report four complicated strabismus cases for which dynamic surface coil MRI helped formulate a precise diagnosis and the most appropriate surgical plan.     

Gastric graft-versus-host disease: a blinded histologic study

Acute graft-versus-host disease (GvHD) of the upper gastrointestinal (GI) tract is common after allogeneic bone marrow transplantation (BMT). However, diagnosis cannot be made on clinical presentation and endoscopic findings alone, because these are nonspecific, and histologic confirmation is often desirable. The diagnosis of gastric GvHD is often based on subtle findings with considerable potential for variability in interpretation. Evaluation of the reproducibility of diagnosis and recognition of histologic features of gastric GvHD was based on blinded review of 56 gastric biopsies (24 from patients with allogeneic BMT or unrelated umbilical cord blood transplantation and 32 control biopsies from patients who did not undergo BMT, of whom eight had active GI cytomegalovirus [CMV] infection). Histologic criteria for GvHD were apoptosis and gland destruction, sparse inflammatory infiltrate, and granular eosinophilic debris in dilated glands. Seventeen patients (22 biopsies) were judged to have clinical GvHD on the basis of skin or liver involvement and GI symptoms without other known cause. Eighteen of these 22 gastric biopsies were classified as GvHD by at least two of the three pathologists on initial review. Blinded histologic diagnosis of GvHD had a positive predictive value of 69%, a sensitivity of 82%, and specificity of 76%. False-positive results occurred in CMV gastritis, human immunodeficiency virus (HIV) infection, primary immunodeficiency, and after renal transplantation. Of individual features, granular debris in glands was a specific (94% specificity), but insensitive (41% sensitivity) marker for GvHD. Distinction between GvHD and CMV infection can be difficult, and GvHD can be confused with changes seen in HIV infection and other immunodeficiency states.     

Seven-year follow-up of patients with duodenal ulcer disease

BACKGROUND: The activity of duodenal ulcer disease varies not only between patients but also from time to time within patients, and earlier studies have concluded that the disease 'burns out' in many cases. It was the aim of this study to examine duodenal ulcer disease activity over a long period, to determine whether the degree of activity is stable within the individual patient. METHODS: A cohort of 145 patients with a first-time duodenal ulcer diagnosed in our department between 1980 and 1985 were followed up for 7 years. The patients' self-reported use of acid-inhibitory drugs was taken as a measure of disease activity. RESULTS: Twenty-eight per cent of the patients had no or minimal ulcer symptoms during the 7 years after healing of the index ulcer, whereas 13% had maximal activity with frequent or continuous use of acid-inhibitory drugs every year or ulcer surgery. A total of 11 patients were operated on because of severe ulcer symptoms or complications to the ulcer disease. The disease activity during the first 2 years after diagnosis did not change much during the following 5 years in most of the patients. CONCLUSIONS: The course of duodenal ulcer disease during the first 2 years after diagnosis was a predictor of the long-term prognosis with a predictive value of approximately 70%, which may be considered satisfactory for decision-making in some clinical situations.     

Orbital metastases: diagnosis and course

AIMS: Three issues were investigated in adult outpatients with orbital metastases. One, how accurate are current diagnostic methods? Two, what is the survival associated with orbital metastases? Three, did any clinical factors correlate with prognosis in this patient cohort? METHODS: Retrospective analysis of patients with orbital metastases managed in an ocular oncology unit. RESULTS: 11 of 31 (35%) patients had no known primary malignancy at the time of orbital diagnosis. In eight of 31 (26%) computed tomography and/or magnetic resonance imaging data did not yield the diagnosis of metastases. In 15 of 17 (88%) cases a fine needle aspiration biopsy was diagnostic. Several types of therapy were used. The median survival was 1.3 years. CONCLUSION: Orbital metastases, even with newer diagnostic techniques can be difficult to diagnose. Management was based on location and extent of both orbital and systemic disease as well as vision. In most cases, orbital symptoms were palliated; however, survival was dismal. No clinical factor correlated with prognosis.     

Alport syndrome. A review of the ocular manifestations

Alport syndrome has a prevalence of 1/5000, and 85% of patients have the X-linked form, where affected males develop renal failure and usually have a high-tone sensorineural deafness by the age of 20. The typical ocular associations are a dot-and-fleck retinopathy which occurs in about 85% of affected adult males, anterior lenticonus which occurs in about 25%, and the rare posterior polymorphous corneal dystrophy. The retinopathy and anterior lenticonus are not usually demonstrated in childhood but worsen with time so that the retinal lesion is often present at the onset of renal failure, and the anterior lenticonus, later. The demonstration of a dot-and-fleck retinopathy in any individual with a family history of Alport syndrome or with end-stage renal disease is diagnostic of Alport syndrome. The presence of anterior lenticonus or posterior polymorphous corneal dystrophy in any individual is highly suggestive of the diagnosis of Alport syndrome. Additional ocular features described in X-linked Alport syndrome include other corneal dystrophies, microcornea, arcus, iris atrophy, cataracts, spontaneous lens rupture, spherophakia, posterior lenticonus, a poor macular reflex, fluorescein angiogram hyperfluorescence, electrooculogram and electroretinogram abnormalities, and retinal pigmentation. All mutations demonstrated to date in X-linked Alport syndrome have affected the COL4A5 gene which encodes the alpha 5 chain of type IV collagen. This protein is probably common to the basement membranes of the glomerulus, cochlea, retina, lens capsule, and cornea. However, the alpha 3(IV) and 4(IV) as well as the alpha 5(IV) collagen chains are usually absent from the affected basement membranes, because the abnormal alpha 5(IV) molecule interferes with the stability of all three. The loss of these collagen molecules from the affected basement membranes results in an abnormal ultrastructural appearance. The ocular and other clinical features of autosomal recessive Alport syndrome are identical to those seen in X-linked disease, while retinopathy and cataracts are the only ocular abnormalities described in the rare autosomal dominant form of Alport syndrome. There are no ocular associations of thin basement membrane disease which is a common disease that probably represents the heterozygous expression of X-linked or autosomal recessive Alport syndrome.     

Alstr?m syndrome. Report of 22 cases and literature review

OBJECTIVE: The authors report 22 cases of Alstr?m syndrome (AS), which is the largest series to date. Only 37 cases have been reported in the world literature since 1959. The authors review the clinical features and compare these with the overlapping condition of Bardet-Biedl syndrome. Their aim is to clarify the AS phenotype and to increase awareness of the early features. DESIGN: A retrospective case series. PARTICIPANTS: All patients (22) with a diagnosis of AS admitted to the authors' hospital in the past 10 years were included in this review. INTERVENTION: This is principally a review of ocular features, but other features are recorded and discussed. MAIN OUTCOME MEASURES: Features noted included age at onset of visual symptoms, presence of photophobia, visual acuity, and electroretinogram findings. Nonocular features recorded included cardiac status, weight and height, hearing, and presence of diabetes mellitus. RESULTS: Cardiomyopathy presenting in infancy has only been recognized recently to be a feature of AS. Of the authors' cases, 18 of 22 had infantile cardiomyopathy. In the authors' tertiary referral institution, there is an ascertainment bias toward younger patients and especially those with pathology that is other than ocular pathology. In addition, AS is difficult to recognize in childhood without the development of infantile cardiomyopathy. Alstr?m syndrome often is not recognized until diabetes mellitus develops in the second or third decade. Initially, a diagnosis of cone-rod dystrophy, achromatopsia, Leber's congenital amaurosis, or Bardet-Biedl syndrome may be made. In AS, there is a severe infantile retinal dystrophy. The electroretinogram is absent or attenuated with better preserved rod than cone function. The retinal dystrophy is progressive with the patient's visual acuity of 6/60 or less by 10 years of age and no light perception by 20 years of age. CONCLUSIONS: A diagnosis of AS should be considered in infantile cone and rod retinal dystrophy, particularly if the weight is above the 90th percentile (16 of 18 cases) or if there is an infantile cardiomyopathy (18 of 22 cases).     

Vascular malformations of the spinal cord. Diagnosis and therapy

A review is given on the current diagnosis and treatment of spinal vascular malformations with special emphasis on the use of selective spinal angiography. Spinal vascular malformations are mostly encountered within the thoraco-lumbar segment of the spinal cord. Typical clinical symptoms are due to either progressive myelopathy or hemorrhage (subarachnoidal hemorrhage). The prognosis of untreated spinal angiomas is poor. Therefore, therapeutic measures are aiming to prevent bleeding of angiomas resulting in subarachnoidal hemorrhages or hematomyelia or to prevent spinal cord ischemia due to compression. Using selective spinal angiography, spinal angiomas can now be treated successfully by complete surgical extirpation or embolization procedures. The evaluation of radicular myelopathies and subarachnoidal hemorrhages of unknown origin has also considerably benefited from this technique. It is concluded that early diagnosis of spinal vascular malformations is of crucial importance for good therapeutical results.