1/18. weill-marchesani syndrome in three generations.BACKGROUND: weill-marchesani syndrome is a rare systemic connective tissue disorder consisting of brachymorphy, brachydactyly, ectopia lentis, spherophakia and glaucoma. methods: We report 6 patients with weill-marchesani syndrome (with or without ocular involvement) in three generations, identified by screening 26 members of two families. This is the largest family in the literature showing an autosomal dominant pattern of inheritance. RESULTS: Presenile vitreous liquefaction was present in all the younger cases. weill-marchesani syndrome was full-blown in two cases in the third generation, in which asymmetrical axial length and glaucomatous damage were present. To our knowledge this is the first report regarding asymmetrical axial length and glaucomatous damage, and presenile vitreous liquefaction in weill-marchesani syndrome with or without ocular involvement. CONCLUSIONS: The longer axial length might be the precursor of impending severe glaucomatous damage. Presenile vitreous liquefaction in subtle young cases should alert the physician to the diagnosis of weill-marchesani syndrome on screening of the family members.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
2/18. Occupational exposures to pesticides containing organoarsenicals in california.The only organic arsenicals used in agriculture are methanearsonic acid (MSMA) and its sodium and ammonium salts and dimethylarsinic acid (cacodylic acid) and its sodium salt. They have an oral LD50 in the rat of 700-1,000 mg/kg and are classified as toxicity category 3 pesticides. During the three-year period 1975, 1976 and 1977 in california there were 34 reports by physicians of injury due to exposure to pesticides containing organic arsenicals of which nine resulted in systemic symptoms and the remainder being eye and skin irritations. There appeared to be prompt recovery from these exposures. They were caused primarily by use of faulty equipment, not using due care in its operation, poor work practices and improper use of protective equipment. There is no evidence that this group of chemicals is carcinogenic in animals or man.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
3/18. Recognizing an index case of type 1 neurofibromatosis.Neurofibromatosis is a relatively common autosomal dominant disorder with variable penetrance. The disorder usually presents in childhood. Hallmarks of type 1 neurofibromatosis are cafe-au-lait macules and neurofibromas. Neurologic complications include mental retardation, learning disabilities and seizures. Tumors of the eighth cranial nerve, as well as other intracranial and spinal neoplasms, are the typical lesions in type 2 neurofibromatosis. Both forms of neurofibromatosis have a highly variable course and may result in progressive neurologic deterioration, disfigurement and impingement syndromes. In the 50 percent of cases that represent new mutations, diagnosis may be delayed if the physician is not familiar with the salient features of the disorder. Thorough initial evaluation, genetic counseling and close follow-up are important aspects of management.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
4/18. Pseudohypopyon--an unusual presenting sign in retinoblastoma.retinoblastoma is the most common intraocular malignancy of childhood. A case of pseudohypopyon as an unusual first sign of retinoblastoma is presented. More common clinical presentations and diagnosis of this disease are also discussed. As some cases of retinoblastoma can mimic non-malignant disease, it is important that the physician have a high index of suspicion for this tumour.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
5/18. marfan syndrome affecting four generations of a family without ocular involvement.Thirty eight relatives of a patient with marfan syndrome were screened for the presence of this disorder. marfan syndrome was newly diagnosed in living members of 4 generations in this family without evidence of ocular abnormality in any. After screening, 10 relatives were newly diagnosed as having definite, and 5 relatives as having possible, marfan syndrome. family screening has drawbacks as well as benefits for the patients. The main benefit is the identification and treatment of previously undiagnosed patients at risk of cardiac complications which are the major cause of mortality. The drawbacks include employment problems created for patients with marfan syndrome as a direct consequence of our screening programme and the anxiety induced in previously asymptomatic family members who did not realize that they could be at risk. Also, the 4 adult patients with possible marfan syndrome found it difficult to accept that a definite diagnosis could not be reached after they had been invited to attend a screening programme for a serious genetic disorder. This report illustrates the importance of screening all the relatives of a patient with marfan syndrome to identify previously undiagnosed cases. However, before screening a family, the physician should be aware that a clear diagnosis may not be reached in all patients, and financial, psychological or social problems may arise as a result of the screening programme.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
6/18. Neuro-ocular Lyme borreliosis.Any patient who has a Bell's palsy (unilateral or bilateral), aseptic meningitis, chronic fatigue syndrome, atypical radiculoneuropathy, presenile dementia, atypical myopathy, or symptoms of atypical rheumatoid arthritis should be asked specifically about the following: visits to highly endemic areas, any known tick bites, any skin lesion suggestive of erythema migrans, any history of palpitations or of prior Bell's palsy, aching in joints (especially the knees), paresthesias, chronic fatigue and depression, forgetfulness, and eye problems. Any patient showing a chronic iritis with posterior synechiae, vitritis in one or both eyes, an atypical pars planitis-like syndrome, big blind spot syndrome, and swollen or hyperemic optic discs should be asked the same questions. The physician should send one red-top tube of blood containing 2 to 3 ml serum to microbiology Reference Laboratory, 10703 Progress Way, Cypress, CA 90630-4714, requesting a Lyme/treponemal panel. For $90 the patient will receive an RPR test with titer, serum FTA-ABS test, serum Lyme IFA IgG and IgM, and a serum Lyme ELISA test. If these tests are within normal limits and the physician is still suspicious, a Western blot can be ordered on serum. A green top tube with fresh white blood cells sent out by overnight express on a Monday or Tuesday will produce a Lyme PCR and a lymphocyte stimulation test. Finally, R.K. Porschen, director of MRL Laboratory, will provide information on the urine antigen test on an investigational basis. A careful history with emphasis on the specific questions noted above, a complete neuro-ophthalmological and physical examination ruling out other causative problems, and the laboratory studies here discussed will usually provide sufficient data to choose therapy. Much further active research into Lyme borreliosis is an important priority in medicine.- - - - - - - - - - ranking = 2keywords = physician (Clic here for more details about this article) |
7/18. Clinically inapparent meningitis complicating periorbital cellulitis.Two young children with periorbital (preseptal) cellulitis were found to have meningitis despite having no signs of meningeal irritation and normal cerebrospinal fluid (CSF) cell counts and chemistries. These cases are reported to remind physicians caring for acutely ill children that periorbital cellulitis can have life-threatening complications and that meningitis can occur in the absence of significant clinical signs and in the presence of an initially normal CSF.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
8/18. Nail, skin, and scleral pigmentation induced by minocycline.minocycline-induced cutaneous and nail bed discoloration, although uncommon, should be closely watched for during treatment. The initial changes may be subtle and may mimic other processes that may deceive both patient and physician. patients should be counseled about the remote possibility of pigmentation with the understanding that any such changes should resolve upon discontinuation of the drug. The time required for resolution depends upon the degree of pigmentation and may take longer than a year in extensive cases.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
9/18. Ocular Munchausen's syndrome.patients with contrived histories and/or self-induced physical abnormalities (Munchausen's syndrome) are often successful in deceiving physicians. We recently cared for four patients with ocular Munchausen's syndrome. Self-induced ocular manifestations included voluntary nystagmus, subconjunctival hemorrhages, chronic orbital emphysema requiring exenteration, corneal alkali burns, erosions and ulcerations, and abscesses of the periorbital area. Correct diagnoses of ocular Munchausen's syndrome were made only after extensive medical and surgical investigations. Suggestions for evaluation and treatment will also be discussed.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
10/18. Chronic unilateral external ocular inflammation.To diagnose the cause of chronic unilateral external ocular inflammation, the physician must take into account many factors usually not considered in bilateral cases. We report on the diagnosis and treatment of ten unilateral cases encompassing a variety of ocular and systemic problems. The purpose of this report is to emphasize the importance of systematic consideration of all diagnostic possibilities and to suggest a diagnostic protocol to aid in the study of patients with chronic unilateral external ocular inflammation.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
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