A desensitization method to maintain enzyme replacement therapy in mucopolysaccharidosis type VI

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The painted shoes.

A previously well 4-year-old boy presented to the emergency room with progressive cyanosis, pallor and vomiting over the last 5 h. Oxygen saturation on pulse oximetry was 87-89% despite 9 L/min of supplemental oxygen. He was tachypnoeic and had a systolic heart murmur, with no other findings on clinical examination. In his medical history, there was record of a restrictive atrial septal defect, with a normal echocardiogram from 3 years before. He had no relevant family history. His shoes appeared to have been recently painted, which raised the suspicion of methaemoglobinaemia, presumptively caused by aniline-containing shoe dye. The shoes were removed promptly and his feet washed profusely. After confirming the diagnosis, methylene blue was started. The level of methaemoglobin decreased rapidly and the boy made a full recovery.

Kiwi fruit is a significant allergen and is associated with differing patterns of reactivity in children and adults.

BACKGROUND: Allergy to kiwi fruit appears increasingly common, but few studies have evaluated its clinical characteristics, or evaluated methods of investigating the allergy. OBJECTIVE: To characterize the clinical characteristics of kiwi fruit allergy and to study the role of double-blind placebo-controlled food challenge (DBPCFC), skin tests and specific IgE in the diagnosis of this food allergy. METHODS: Two-hundred and seventy-three subjects with a history suggestive of allergy to kiwi completed a questionnaire. Forty-five were investigated by DBPCFC, prick-to-prick skin testing with fresh kiwi pulp, and specific IgE measurement. Nineteen subjects were also skin tested using a commercially available solution. RESULTS: The most frequently reported symptoms were localized to the oral mucosa (65%), but severe symptoms (wheeze, cyanosis or collapse) were reported by 18% of subjects. Young children were significantly more likely than adults to react on their first known exposure (P<0.001), and to report severe symptoms (P=0.008). Twenty-four of 45 subjects (53%) had allergy confirmed by DBPCFC. Prick-to-prick skin test with fresh kiwi was positive in 93% of subjects who had allergy confirmed by DBPCFC, and also in 55% of subjects with a negative food challenge. The commercial extract was significantly less sensitive, but with fewer false-positive reactions. CAP sIgE was only positive in 54% of subjects who had a positive challenge. CONCLUSIONS: Kiwi fruit should be considered a significant food allergen, capable of causing severe reactions, particularly in young children. DBPCFC confirmed allergy to kiwi fruit in 53% of the subjects tested, who had a previous history suggestive of kiwi allergy. Skin testing with fresh fruit has good sensitivity (93%), but poor specificity (45%) in this population. CAP sIgE and a commercially available skin test solution were both much less sensitive (54%; 75%) but had better specificity (90%; 67%).

A high-titer, high-thermal-amplitude autoanti-B associated with acrocyanosis but no obvious hemolytic anemia.

BACKGROUND: ABO autoantibodies are rare. Most reported examples have been antibodies with 4 degrees C titers not greater than 256 in patients without apparent hemolytic anemia. Most high-titer, high-thermal-amplitude, complement-activating cold agglutinins are associated with hemolytic anemia. STUDY DESIGN AND METHODS: A 52-year-old man presented with acrocyanosis and mild small-vessel brain disease, but no evidence of obvious hemolytic anemia. Regular plasmapheresis treatment was helpful in relieving the clinical symptoms associated with acrocyanosis. Serologic methods were used to study the patient's RBCs and sera. RESULTS: The patient's RBCs were strongly reactive with anti-C3 and anti-IgM and weakly reactive with anti-IgA. The patient's serum contained a high-titer, high-thermal-amplitude, IgMkappa autoanti-B, capable of activating complement in vitro. CONCLUSION: A patient with a powerful ABO autoantibody is described. This patient had acrocyanosis but did not appear to have an obvious hemolytic anemia. This case is a good example of the lack of correlation between in vitro serologic tests and in vivo reactions in individual patients.

[Sneddon syndrome: cardiac pathology and anti-phospholipid antibodies]. / Sindrom Sneddona: kardial'naia patologiia i antifosfolipidnye antitela.

Besides cerebrovascular pathology and livedo, cardiac affections are introduced in clinical manifestations of Sneddon's syndrome. They involve coronary heart disease (up to development of MI), murmur (usually mitral), occasional cardiac arrhythmia. Patients with coronary disease and cardiac murmur show antibodies to cardiolipin significantly more frequently. The role of antibodies to cardiolipin in the genesis of cardiac alterations in Sneddon's syndrome is open to discussion.

[Cerebrovascular disorders associated with livedo (Sneddon's syndrome): its relation to lupus anticoagulant]. / Sosudistoe porazhenie mozga, sochetaiushcheesia s livedo (sindrom Sneddona): sviaz' s volchanochnym antikoaguliantom.

The clinical manifestations of Sneddon's syndrome (cerebrovascular disorder, livedo reticularis, peripheral venous thrombosis++, cardiac pathology, obstetric pathology--fetal loss and intrauterine fetal death) are characteristic of the antiphospholipid syndrome. A lupus anticoagulant (LA), one of the types of antiphospholipid antibodies, was detected in the blood plasma of 18 out of 30 patients with Sneddon's syndrome. The negative results of LA-examination in 12 patients don't exclude the presence of other antiphospholipid antibodies. So 16 of 30 patients had anticardiolipin antibodies, among them being 6 LA-negative patients. The authors discuss the significance of antiphospholipid antibodies in the genesis of vascular abnormalities in patients with Sneddon's syndrome.

Infectious mononucleosis initially seen as cold-induced acrocyanosis: association with auto-anti-M and anti-I antibodies.

A case of infectious mononucleosis initially seen as cold-induced acrocyanosis is discussed. Serological evaluation of the patient showed the presence of auto-anti-M and anti-I antibodies. Both the M and I antigens are normally found on RBCs. It is postulated that one or both of these antibodies were responsible for the acrocyanosis.