1/242. Adrenocortical insufficiency.Primary adrenocortical insufficiency is a rare disease which may present with protean clinical symptoms and signs. At one end of the spectrum is the patient with a long clinical history with marked pigmentation and documented episodes of crises which may follow relatively minor viral illnesses. The other extreme is illustrated by patients with a rapid deterioration in health culminating in unexpected or unexplained death. In the latter instances, the forensic pathologist may well be involved, and the case will present a significant challenge to diagnosis. We report 5 cases of primary and secondary adrenocortical insufficiency seen at the Victorian Institute of forensic medicine in 1 year. One adult man presented as a case of sudden unexplained death. In 2 cases, the diagnosis of adrenocortical insufficiency was raised following postmortem examination and confirmed by the treating physician following further consultation. In the remaining 2 cases, the diagnosis was known prior to postmortem examination and the diagnosis confirmed.- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
2/242. hyperpigmentation caused by hyperthyroidism: differences from the pigmentation of Addison's disease.Two cases of hyperthyroidism with hyperpigmentation are presented. In both cases, hyperpigmentation was seen on the lower extremities, most strikingly on the shins, backs of the feet and the nail bed. histology of the pigmented skin showed basal melanosis and heavy deposition of haemosiderin around dermal capillaries and sweat glands. Treatment with mercazol in both cases resulted in no significant waning of pigmentation. Distribution of hyperpigmentation, haemosiderin deposition and poor response to the treatment may be characteristic features of the pigmentation caused by hyperthyroidism, and may represent differences from the pigmentation seen in Addison's disease.- - - - - - - - - - ranking = 5keywords = disease (Clic here for more details about this article) |
3/242. Unusual association of thyroiditis, Addison's disease, ovarian failure and celiac disease in a young woman.The coexistence of autoimmune endocrine diseases, particularly autoimmune thyroid disease and celiac disease (CD), has recently been reported. We here present a 23-year-old woman with a diagnosis of hypothyroidism due to Hashimoto's thyroiditis, autoimmune Addison's disease, and kariotypically normal spontaneous premature ovarian failure. Considering the close association between autoimmune diseases and CD, we decided to search for IgA anti-endomysium antibodies (EmA) in the serum. The positivity of EmA and the presence of total villous atrophy at jejunal biopsy allowed the diagnosis of CD. On a gluten-free diet the patient showed a marked clinical improvement accompanied, over a 3-month period, by a progressive decrease in the need for thyroid and adrenal replacement therapies. After 6 months, serum EmA became negative and after 12 months a new jejunal biopsy showed complete mucosal recovery. After 18 months on gluten-free diet, the anti-thyroid antibodies titre decreased significantly, and we could discontinue thyroid substitutive therapy. This case emphasizes the association between autoimmune polyglandular disease and CD; the precocious identification of these cases is clinically relevant not only for the high risk of complications (e.g. lymphoma) inherent to untreated CD, but also because CD is one of the causes for the failure of substitute hormonal therapy in patients with autoimmune thyroid disease.- - - - - - - - - - ranking = 15keywords = disease (Clic here for more details about this article) |
4/242. White Addison's disease: what is the possible cause?A case of chronic primary adrenal insufficiency without hyperpigmentation in a 64-year-old woman is reported. Due to the absence of hyperpigmentation the diagnosis was delayed and she became critically ill. During endocrine evaluation, in order to investigate the mechanism responsible for the absence of hyperpigmentation, skin biopsy was done and hormones responsible for the skin pigmentation were measured. Absence of hyperpigmentation is explained by high degree of melanosome degradation in secondary lysosomes called "compound melanosomes", which overwhelmed increased stimulation of the skin pigmentation. melanocyte-stimulating hormones were elevated with a strikingly high beta-LPH/ACTH ratio. To our knowledge, this is the first study of pathogenic mechanisms responsible for the absence of hyperpigmentation in white Addison's disease.- - - - - - - - - - ranking = 5keywords = disease (Clic here for more details about this article) |
5/242. X-linked adrenoleukodystrophy: spinocerebellar variant.The phenotypic variability in X-linked adrenoleukodystrophy (X-ALD) can be wide and varied. Rarely, it can present with clinical signs of spinocerebellar degeneration. There are very few reported cases of selective predominant white matter disease of the cerebellum in these patients. We report a patient with a rare variant of adult onset ALD who was previously diagnosed as spinocerebellar ataxia. He was a 24-year-old male who had delayed developmental milestones, developed signs of spinocerebellar degeneration (SCD) after 10 years of Addison's disease. Serial magnetic resonance imaging (MRI), revealed cerebellar and pontine white matter disease but sparing the cerebral cortex and supratentorial white matter. His diagnosis of X-ALD was subsequently confirmed by the elevated serum very long chain fatty acids. This patient illustrates the unusual clinical presentation and imaging features of X-ALD and the importance of considering X-ALD in the clinical context of spinocerebellar degeneration. Early recognition of this rare variant would allow proper genetic counselling and institution of dietary therapy and/or bone marrow transplantation.- - - - - - - - - - ranking = 3keywords = disease (Clic here for more details about this article) |
6/242. cardiac tamponade preceding adrenal insufficiency--an unusual presentation of Addison's disease: a report of two cases.Two cases of young healthy males presenting with cardiac tamponade and developing clinical adrenal insufficiency within a few weeks are described. On presentation they had a brisk inflammatory response with complement activation. Both had signs of subclinical hepatitis, and both have later shown evidence of thyroid involvement. The possibility of a connection between pericarditis and adrenal insufficiency is discussed.- - - - - - - - - - ranking = 4keywords = disease (Clic here for more details about this article) |
7/242. adrenoleukodystrophy associated with vitiligo and ulcerative colitis.adrenoleukodystrophy (ALD) is an X-linked inherited disorder of lipid metabolism usually presenting in childhood or early adolescence. It is a progressive disease with symptoms of adrenal insufficiency and central nervous system demyelination. The pathology results from the accumulation of very long-chain fatty acids and an inflammatory reaction in the brain white matter. We report a case of ALD associated with adrenal insufficiency and two autoimmune diseases: vitiligo and ulcerative colitis.- - - - - - - - - - ranking = 2keywords = disease (Clic here for more details about this article) |
8/242. adrenal insufficiency as the first clinical manifestation of the primary antiphospholipid antibody syndrome.We describe a 60-year-old man who developed clinical symptoms and signs of Addison's disease, which was subsequently confirmed biochemically; no cause was apparent. Several months later the patient represented with a fit, followed by a large and extensive venous thrombosis in the right iliac vein and in the veins of the right leg. He had strongly positive antibodies to cardiolipin, strongly suggesting a diagnosis of primary antiphospholipid syndrome. While Addison's disease is a well-recognized, albeit rare, manifestation of the antiphospholipid syndrome, the Addison's disease preceded other clinical evidence of the syndrome by several months, in our patient, at variance with previous cases described in the literature. The antiphospholipid syndrome should be considered as a possible pathogenetic process in patients presenting with Addison's disease where the aetiology is not obvious.- - - - - - - - - - ranking = 4keywords = disease (Clic here for more details about this article) |
9/242. Brittle Addison's disease: a new variation on a familiar theme.Unstable and unpredictable disease control in diabetes or asthma, with frequent hospitalisations, is frequently referred to as 'brittle'. We describe two cases of Addison's disease with recurrent hospitalisations in hypo-adrenal crises. Both patients had significant psychosocial disruption, and failure to take hydrocortisone replacement therapy was admitted in one and biochemically proven in the other. We propose that 'brittle' Addison's disease in these cases was due to poor treatment compliance related to psychosocial factors. These features have particular similarities with the syndrome of brittle diabetes.- - - - - - - - - - ranking = 7keywords = disease (Clic here for more details about this article) |
10/242. female genital coccidioidomycosis (FGC), Addison's disease and sigmoid loop abscess due to coccidioides immites; case report and review of literature on FGC.We describe a woman with unusual complications of infection with coccidioides immitis--infection of the genital tract and adrenal insufficiency. The patient also had intestinal coccidioidomycosis (cocci) in conjunction with presumed pulmonary, and asymptomatic central nervous system cocci. To our knowledge, concurrent FGC, intestinal and adrenal cocci have not been reported previously. A medline review from 1966-1997 revealed only 1 case of adrenal insufficiency due to cocci. FGC is rare; we identified 12 reported cases since 1929. No combination of investigations or clinical features is sensitive enough to predict FGC. diagnosis is usually made after microscopy of surgical specimens. FGC presents either as tubo-ovarian disease or endometritis. Treatment generally involves surgical excision and antifungal agents. We hypothesize that an initial trial of antifungals may obviate the need for surgery.- - - - - - - - - - ranking = 5keywords = disease (Clic here for more details about this article) |
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