Rare diseases case reports

Rare cases of hepatic failure, some leading to death or liver transplant, have occurred with the use of terbinafine for the treatment of onychomycosis in individuals with and without pre-existing liver disease. In the majority of liver cases reported in association with terbinafine use, the patients had serious underlying systemic conditions and an uncertain causal relationship with terbinafine. Terbinafine is not recommended for patients with chronic or active liver disease. Before prescribing terbinafine, assess pre-existing liver disease. Hepatotoxicity may occur in patients with and without preexisting liver disease. Pretreatment serum transaminase (ALT and AST) tests are advised for all patients before taking terbinafine. 

There is a substantial interindividual variation in LDL cholesterol levels among patients with FH. Generally, LDL cholesterol levels are inversely related to the residual LDL receptor activity, as measured in the in vitro assay that uses skin fibroblasts. Patients with homozygous FH are classically divided into two groups based on the fibroblast LDL receptor activity. Patients with less than 2% activity, as the patient described in the case report, are classified as receptornegative. Patients with 2%-20% LDL receptor activity are classified as receptor-defective. The natural history of the disease is much more severe in receptor-negative patients, who, if left untreated, rarely survive beyond the second decade of fife. Receptor-defective patients, in contrast, have less-severe hypercholesterolemia and a more delayed onset of coronary artery disease and mortality. 

Tangier disease is an extremely rare genetic disorder with fewer than 100 cases reported since the index cases in 1961. Clinical signs and symptoms are variable and may depend on the age of the patients. For instance, signs of neuropathy were not observed in T. L. and E. L., in contrast to our 32-year-old patient. Assmann and colleagues (2001) have succinctly compiled the reported findings (Table 15-1), most of which are discussed here. 

Rare postmarketing cases of hepatosplenic T cell lymphoma reported. This rare type of T cell lymphoma has a very aggressive disease course and is usually fatal within 2 years of diagnosis... 

Most conventional antidepressants lower sexual desire and performance. However, the reversible type A selective MAO inhibitor moclobemide produced intense pathological sexual desire in three men with organic brain disease (two with strokes and one with idiopathic Parkinson s disease) (14). In one man, the hypersexuality was associated with features of pathological jealousy in a paranoid state, but in the other two increased sexuality was an isolated symptom. One of these patients, who had been impotent after the stroke, resorted to telephone sex services, a most uncharacteristic behavior for him. In all cases, the hypersexuality remitted when moclobemide was withdrawn. There have been two previous case reports of moclobemide-induced hypersexuality in women without organic brain disease. This must be a rare adverse effect, but it is possible that in the cases reported here the organic brain disease may have contributed. 

In a large worldwide analysis of BCG adverse effects (1948-74) co-ordinated by the International Union Against Tuberculosis and Lung Disease (SED-12, 795) there were 272 cases of lesions of bones and joints, including synovial lesions. However, case reports of arthritis after BCG vaccination in healthy individuals are rare. Polyarthritis has been reported in a 33-year-old healthy woman 3 weeks after BCG vaccination (52). 

Despite a good overall safety profile, anti-TNF antibodies can induce a number of adverse effects, including autoimmunity and infections. A trial in the treatment of Crohn s disease noted infusion reactions, transient increased of anti-dsDNA antibodies, and serum sickness-like delayed hypersensitivity with retreatment. Induction of human-antichimeric-antibodies was suggested as the cause of some of the infusion reactions [90]. A prospective study in 35 patients with Crohn s disease showed induction of ANA and anti-dsDNA autoantibodies in 53% and 35% of infliximab-treated patients [91]. A single patient showed clinical features consistent with drug-induced lupus, including the presence of ANA and anti-dsDNA autoantibodies, which quickly resolved after discontinuation of infliximab. Reports on renal adverse effects of anti-TNF antibodies are very rare. Saint Marcoux described the occurrence of crescentic GN in as few as 2 patients out of a cohort of 39 patients, treated with an anti-TNF antibody for rheumatoid arthritis [92]. A case report by Chin et al. [93] described the case of a 29-year-old Australia-born Vietnamese who presented with nephrotic syndrome. A renal biopsy showed membranous nephropathy. Symptoms attenuated after discontinuation of infliximab therapy. 

Case reports of workers occupationally exposed to rare earth metals (including cerium) describe a condition termed rare earth pneumoconiosis with pathologic features including interstitial fibrosis, granulomatosis, and bilateral nodular chest X-ray infiltrates. Although the disease sometimes is associated with accumulation of cerium in particles, the role of cerium in this complex disease is unclear relative to other metals or gases to which workers may also have been exposed. 

Anthrax spores, commonly found in the soil throughout the world (5), can cause infection when ingested by herbivore animals. Naturally occurring human infections follow exposnre to the infected animals or infected animal products. Occupational exposnre has been the most common cause of anthrax, with industrial mill wool sorters at greatest risk. From 1900 to 1978, there were 18 reported human cases in the United States, all in occupations associated with specific exposure, such as goat hair mill workers, tannery workers, and laboratory workers. Widespread animal vaccination programs have reduced animal mortality from anthrax and naturally occurring human anthrax is now a very rare disease (5). 

Plagne remains a rare but reportable disease in the United States, with 390 cases reported from 1947 to 1996. Of these cases, 84% were bubonic, 13% septicemic, and 2% were pneumonic (23). Most hnman cases in the United States occur in two regions northern New Mexico, northern Arizona, and southern Colorado and California, southern Oregon, and far western Nevada (http //www.cdc.gov/ncidod/ dvbid/plague/epi.htm). Modes of transmission are known for 284 of 341 cases reported between 1970 and 1995 Flea bites were responsible for 222 (78%) cases, direct contact with an infected animal was responsible for 56 (20%) cases and inhalation of airborne materials snch as respiratory droplets from infected animals was responsible for 7 (2%) cases. Los Angeles was the site of the last person-to-person transmission in the United States in 1924 (23). 

Some diseases are so rare that the prospects of conducting a clinical trial are remote. It is unlikely that enough patients could ever be collected at any reasonably small number of study sites for any useful randomization. These diseases may be found in the literature as case reports. In these cases, probably the best that can be accomplished is to collect and retrospectively analyze as many such cases as possible. If the drug of interest has been used in a sufficient number of patients, then retrospective risk ratios for benefit and harm can be calculated. This may be the strongest evidence that can ever be collected about a particular drug under these rare conditions, albeit never as strong as a controlled clinical trial. One example is the effectiveness of dantrolene in malignant hyperthermia (Strazis and Fox, 1993). 

The primary reservoir for natural human infection is livestock, particularly parturient females, and the distribution is worldwide. Outbreaks of Q fever are infrequently reported, however, and the disease may be endemic in areas where cases are rarely or never reported. Humans who work in animal husbandry, especially those who assist during parturition (eg, calving or lambing) are at risk for acquiring Q fever. However, a definite risk also exists for persons who live in close proximity to, or who pass through, an area where animal birthing is occurring, even if this occurred months previously. 

Tetanus is a rare disease in the United States, with fewer than 50 cases reported annually. It is caused by an exotoxin produced by Clostridium tetani, an anaerobic, spore-forming, gram-positive rod found widely in soil and in the gastrointestinal tract. Tetanus is typically seen in older persons (especially older women), recent immigrants, and intravenous dmg users who have not maintained adequate tetanus immunization. 

Although data are limited, the minor to modest possible ineieases in frov-atriptan, naratriptan, sumatriptan and zoimitriptan pharmacokinetics described are not likely to produce clinically relevant adverse effects. Almotriptan, rizatriptan and sumatriptan do not appear to have any clinically important effect on levels of contraceptive steroids. The significance of the single case report of ischaemic colitis associated with concurrent use of naratriptan and a combined oral contraceptive is unclear. Note that ischaemic colitis has, rarely, been reported with naratriptan itself The manufacturers have found no cases of ischaemic colitis in approximately 450 women on oral contraceptives and taking naratriptan for prophylaxis for 5 to 6 days. However, caution may be needed with concurrent use in those patients with risk factors for ischaemic colitis, such as those with a history of abdominal surgery, low blood pressure, diabetes, cardiovascular disease or stroke. 

Dempsey, H., M. W. Hartley, J. Carroll, J. Balint, R. E. Miller, and W. B. Frommeyer Fabry s disease (Angiokeratoma corporis diffusum). Case report on a rare disease. Ann. intern. Med. 68, 1059 (1965). 

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