SUMMARYWe describe a teenage type 1 diabetic girl with painless pedal oedema and bilateral cataracts. She developed oedema after commencement of intensive insulin therapy and achievement of excellent glycaemic control. In addition, she was also found to have bilateral subcapsular cataracts. The oedema subsided spontaneously and she underwent surgical treatment for the cataracts. Insulin oedema is a rare complication of insulin therapy. To our knowledge, co-occurrence of these two complications in a young diabetic patient has not been described before in the English language medical literature. BACKGROUND

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A term Caucasian neonate with an uncomplicated birth history presented with persistent umbilical stump bleeding unresponsive to extensive topical haemostatic measures initially. He subsequently developed hypovolaemic shock. Routine full blood count and basic coagulation screen were unremarkable. He received packed red cell and cryoprecipitate transfusions. Further specialist coagulation studies performed revealed factor XIII deficiency. Genetic investigations demonstrated a compound heterozygosity for the disorder. He was later started on monthly prophylactic treatment of plasma-derived factor XIII. Clinicians should have a high index of suspicion for factor XIII deficiency for newborns with abnormal umbilical stump bleeding in the presence of no bleeding risk factors and normal routine blood investigations.

DESCRIPTIONWe report a case of a 5-year-old Asian boy with an 8-month history of non-healing lesions on the left side of cheek (figure 1).It started as a non-tender red papule which increased to a pea-sized nodule over a period of few weeks. The lesion persisted for over 6 months and was oozing pus intermittently. At the same time two other erythematous papules appeared under the chin.He had travelled to Pakistan a year before the lesions appeared. His family members did not have tuberculosis.A punch biopsy of the lesion revealed a noncaseating granuloma (figure 2). Stain and cultures for bacteria, acid-fast bacilli and fungi were negative. The Mantoux test was negative and the chest radiograph was normal. His renal, liver function, C reactive protein and erythrocyte sedimentation rate were normal. Serum immunoglobulins and lymphocyte subsets were normal. Leishmania donovani DNA complex was detected on PCR and confirmed a diagnosis of cutaneous Leishmaniasis. Ultrasound of the neck and abdomen did not show any lymphadenopathy or hepatosplenomegaly. He responded well to oral fluconazole (10 mg/kg) treatment for 2 months.Cutaneous leishmaniasis is a parasitic skin infection caused by Leishmania species, which is transmitted by sandfly bites.

Background Transcriptional regulation of the SHOX gene is highly complex. Much of our understanding has come from the study of copy number changes of conserved non-coding sequences both upstream and downstream of the gene. Downstream deletions have been frequently reported in patients with Leri–Weill dyschondrosteosis or idiopathic short stature. In contrast, there are only four cases in the literature of upstream deletions that remove regulatory elements. Although duplications flanking the SHOX gene have also been reported, their pathogenicity is more difficult to establish. To further evaluate the role of flanking copy number variants in SHOX-related disorders, we describe nine additional patients from a large SHOX diagnostic cohort. Results The nine cases presented here include five with duplications (two upstream of SHOX and three downstream), one with a downstream triplication and three with upstream deletions. Two of the deletions remove a single conserved non-coding element (CNE-3) while the third does not remove any known regulatory element but is just 4 kb upstream of SHOX, and the deleted region may be important in limb bud development. We also describe six families with novel sequence gains flanking SHOX. Three families had increased dosage of a proposed regulatory element approximately 380 kb downstream of SHOX (X:970,000), including one family with the first ever reported triplication of this region. One family had two in cis downstream duplications co-segregating with LWD, and the two others had a duplication of just the upstream SHOX regulatory element CNE-5. Conclusions This study further extends our knowledge of the range of variants that may potentially cause SHOX-related phenotypes and may aid in determining the clinical significance of similar variants.