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We report a 16-month-old girl with varicella complicated by cellulitis, invasive Group A (GAS) infection and deep vein thrombosis. She presented with varicella lesions, fever and a painful firm tumefaction on the right lower leg (RLL). Ultrasound showed a local subcutaneous tissue thickening suggestive of cellulitis and antibiotics were initiated. Further swelling of the RLL motivated a second ultrasound that showed an obstructive thrombus for which she was started on enoxaparin. The blood culture confirmed GAS infection leading to directed antibiotherapy. Additional studies showed positive lupus anticoagulant, decreased protein S and antithrombin. She completed a 2-week course of intravenous antibiotics and anticoagulation therapy with clinical and laboratory markers improvement. However, 3 days later, a recrudescence of symptoms occurred and the ultrasound revealed a local abscess. Further amoxicillin treatment resulted on a complete resolution of symptoms. Doppler ultrasound after 1 month showed markedly increased vein patency.

We present the first two reported unrelated patients with an isolated sedoheptulokinase (SHPK) deficiency. The first patient presented with neonatal cholestasis, hypoglycemia, and anemia, while the second patient presented with congenital arthrogryposis multiplex, multiple contractures, and dysmorphisms. Both patients had elevated excretion of erythritol and sedoheptulose, and each had a homozygous nonsense mutation in SHPK. SHPK is an enzyme that phosphorylates sedoheptulose to sedoheptulose-7-phosphate, which is an important intermediate of the pentose phosphate pathway. It is questionable whether SHPK deficiency is a causal factor for the clinical phenotypes of our patients. This study illustrates the necessity of extensive functional and clinical workup for interpreting a novel variant, including nonsense variants.Electronic supplementary materialThe online version of this article (doi:10.1007/s10545-014-9809-1) contains supplementary material, which is available to authorized users.

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