A challenging case of anemia, respiratory failure and seizures.

BACKGROUND: Hemorrhagic Hereditary Telangiectasia (HHT), or  Rendu-Osler-Weber syndrome,  is a rare genetic disorder characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations. AIM AND METHODS: We describe the case of a 64-year old woman  in which radiology was useful to interpret an apparently unexplained constellation of symptoms. RESULTS: Brain MRI showing ischemic stroke, pulmonary angiography demonstrating arteriovenous malformations, and capsule endoscopy detecting telangiectasias in the jejunum, along with a clinical history of recurrent epistaxis, allowed us to diagnose HHT. CONCLUSIONS: HHT is rare and difficult to diagnose. Radiology can aid the clinical suspicion. www.actabiomedica.it.

Long-term bone density evaluation in cerebrotendinous xanthomatosis: evidence of improvement after chenodeoxycholic acid treatment.

Cerebrotendinous xanthomatosis (CTX) is known to be associated with osteoporosis and a higher incidence of bone fractures. However, the underlying pathogenesis is still unknown, and the effects of long-term replacement therapy with chenodeoxycholic acid (CDCA) on bone mineral density (BMD) have not been fully investigated. We studied 11 CTX patients aged 13-43 years. We performed dual-energy X-ray absorptiometry and assessed serum cholestanol and 25-hydroxyvitamin D (25-OHD) concentrations both at the time of diagnosis and after long-term treatment with CDCA. At baseline, we found low BMD in nine patients, cholestanol elevation in all subjects, and 25-OHD decrease in nine. After a mean follow-up time of 30 months (range 24-36), no substantial clinical changes including bone fractures occurred; and we detected a significant increase of both planar and volumetric BMD as well as normalization of plasma cholestanol levels and increase of serum 25-OHD. Densitometric improvement following CDCA introduction was not correlated to changes of biochemical parameters. Our study confirms the presence of low bone mass in CTX and demonstrates that long-term CDCA treatment increases bone mineral content. In this respect, improvement of vitamin D intestinal absorption secondary to bile acid restoration could play an important role. Moreover, our data strongly suggest the utility of periodic bone density evaluation in CTX patients.

Circulating sclerostin levels and bone turnover in type 1 and type 2 diabetes.

CONTEXT: Previous observations showed a condition of low bone turnover and decreased osteoblast activity in both type 1 and 2 diabetes mellitus (DM1 and DM2). Sclerostin is a secreted Wnt antagonist produced by osteocytes that regulates osteoblast activity and thus bone turnover. Its levels increase with age and are regulated by PTH. OBJECTIVES: The aim of the present study was to evaluate circulating sclerostin levels in patients with DM1 or DM2 with normal renal function and to analyze its relationship with PTH, 25-hydroxyvitamin D, and bone turnover markers. DESIGN, AND SETTING: This was a cross-sectional study conducted at a clinical research center. PARTICIPANTS: Forty DM2 and 43 DM1 patients were studied and compared with a reference control group (n = 83). RESULTS: In the overall cohort, sclerostin levels were higher in males than in females and significantly increased with age in both genders. The positive correlation between sclerostin and age was maintained in DM1 but not in DM2 patients. Moreover, sclerostin levels were higher in DM2 than in controls or DM1 patients, and this difference persisted when adjustments were made for age and body mass index. Consistent with previous clinical and experimental observations, sclerostin was negatively associated with PTH in nondiabetic patients (r = -0.30; P < 0.01), independently of age and gender. Conversely, an opposite but nonsignificant trend between PTH and sclerostin was observed in both DM1 (r = 0.26; P = 0.09) and DM2 (r = 0.32; P = 0.07) cohorts. CONCLUSIONS: These findings suggest that sclerostin is increased in DM2. Moreover, the transcriptional suppression of sclerostin production by PTH might be impaired in both DM1 and DM2.

Choreoathetosis associated with non-chetotic hyperglycemia.

Choreoathetosis is a rare neurologic complication of the diabetic disease. The purpose of this case report is to increase the knowledge of such occurrence by describing the case of an elderly woman who was admitted to our institution for an over 20-day history of choreic movement in the left side of the body. She had a 6-year history of type 2 diabetes mellitus with a poor metabolic control including a glycosylated hemoglobin of 13%. Unenhanced computed tomography of the brain was negative. At magnetic resonance imaging, the right putamen showed high signal intensity on T1-weighted images and an area of high signal intensity on T2-weighted images, diffusion-weighted images and apparent diffusion coefficient maps. During the hospitalization, an adequate diet therapy was performed, and insulin therapy was gradually adjusted using regular insulin at main meals associated with basal insulin (glargine) "bed time". This resulted in progressive normalization of blood glucose values and an improvement of dyskinesia. There is a deep correlation between non-chetotic hyperglycemia and neurologic lesions leading to choreoathetosis. The etiopathogenesis seems multifactorial, and include hyperosmolar damage on cortical cells, alteration in GABA neurotransmission and in cerebral vascular self-regulation mechanism. Notably, in DM type 2 choreoathetosis may be related to both vascular and neuro-metabolic alterations in the basal nucleus due to inadequate glycemic control continuing in the time. This rare complication of DM type 2 is a pathological entity to be considered benign, since it is generally transient and reversible with the attainment of an adequate metabolic compensation.