Lysosomal storage diseases are rare and coexistence of more than one in a family can present a diagnostic challenge as illustrated by this study. The index case born to consanguineous Asian parents presented with developmental delay. Investigations led to an incidental finding of Fabry disease. After numerous additional investigations over a year, a second diagnosis of aspartylglucosaminuria (AGU) was made. A family history of renal disease and developmental delay was disclosed. The sister and first cousin of the index case were diagnosed as homozygous for AGU, but do not have Fabry disease. The younger brother has since been diagnosed with both Fabry disease and AGU. Another cousin has learning difficulties and fits, but is heterozygous for AGU, and possibly has another uncharacterised autosomal recessive disorder. In a family with consanguinity when the clinical picture in an individual is not fully explained by the presence of one rare metabolic disease, it is essential to investigate further for the presence of others.
Diabetic foot sepsis T his article focuses on the end-stage of diabetic foot disease: Diabetic foot sepsis. The aetio-pathogenesis and clinical diagnosis of diabetic foot disease is discussed. The article explores the management of limb-and non-limbthreatening diabetic foot infections, and in particular, the importance of utilising the diabetic foot clinic and the specialist multidisciplinary team to prevent highrisk patients from further foot deterioration. The importance of preventing the development of diabetic foot disease through screening and primary and secondary prevention strategies is also discussed.
SUMMARYA 9-year-old girl was admitted under our general surgical team with 2 days of diffuse abdominal pain and vomiting. This was one of multiple admissions for similar symptoms over the past 5 years. She was feverish on admission but haemodynamically stable. On examination, she had a diffusely tender and hypersensitive abdomen, with no guarding or peritonism, and no palpable masses. Of note, the patient was very thin, with almost no body fat. Blood tests were otherwise normal, with a normal abdominal X-ray and abdominal ultrasound. She had undergone three previous abdominal ultrasounds over the past 5 years for similar symptoms, all of which were normal. Following this, CT revealed a diagnosis of superior mesenteric artery syndrome. The patient was transferred to our regional children's hospital for analgaesia, nasogastric decompression and nutritional supplementation. She made a swift improvement with plans for ongoing follow-up by the paediatric team.
BACKGROUND
The characteristics of laser-plasma sources for lithographic applications in different spectral ranges will be reviewed, and the performance potential will be summarized.
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