[Maternal lupus diagnosed through skin lesions of a newborn]. / Een pasgeborene met huidafwijkingen.

Directly after birth a newborn was found to have distinctive skin lesions on her face. The lesions were suspicious for neonatal lupus. Her asymptomatic mother tested positive for anti-SSA/Ro and anti-SSB/La antibodies. The newborn had no complications of neonatal lupus (e.g. atrioventricular block, anemia, neutropenia, or liver enzyme elevation) and the lesions faded within two weeks.

[A teenager with Prader-Willi syndrome with loss of appetite]. / Een tiener met Prader-Willi-syndroom zonder eetlust.

BACKGROUND: Prader-Willi syndrome is characterised by hyperphagia and binge eating, without regurgitation. CASE DESCRIPTION: We present a 16-year-old girl with Prader-Willi syndrome exhibiting loss of appetite, stomach ache and regurgitation. Gastro-enteritis was suspected. However, she rapidly developed severe septic shock. During emergency surgery, a fully necrotic and ruptured stomach was seen. Despite respiratory, haemodynamic and surgical efforts, the patient died of necrotic intestinal bleeding. CONCLUSION: Binge eating or deviant gastric homeostasis could account for the relatively high incidence of gastric necrosis in patients with Prader-Willi syndrome. Loss of appetite and regurgitation in patients with this syndrome should be considered as warning signs of a possible life-threatening disorder.

Prophylactic plasma exchange in CD46-associated atypical haemolytic uremic syndrome.

Patients with atypical haemolytic uremic syndrome (aHUS) with a mutation in the gene encoding membrane cofactor protein (CD46) are known to have a better prognosis than those with mutations in factor H (CFH) or factor I (CFI), but a small number of the former still proceed to end-stage renal failure. Plasma therapy (PE) is the recommended approach to treat both acute episodes and prevent recurrences in aHUS, but studies have yet to show PE efficacy in aHUS associated with a CD46 mutation. The factors determining failure to treatment are not clear and may be related to the mutation involved or to insufficient treatment. Our experience of PE in a family of three sisters with CFH-associated aHUS suggests that intensive and prophylactic PE allows renal function to be maintained in both native kidneys and allografts. The success of this strategy has led us to use it in all cases of aHUS. Here, we describe the effect of this strategy in a child with aHUS and a CD46 mutation. The initial episode was treated with daily PE, resulting in the recovery of renal function. However, over the next 4 years, there was a progressive decline in renal function to end-stage renal failure, with evidence of an on-going thrombotic microangiopathy despite continuous prophylactic PE. Prophylactic PE does not influence the natural course of aHUS and CD46 mutation.