Berardinelli-Seip congenital lipodystrophy (BSCL) is a very rare autosomal recessive disease. In the described patient diagnostic relevant symptoms developed at 3 week age.

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Case report [ 1 ]▼ A 9-weeks-old infant girl was admitted to hospital with fever up to 40 ° C and clinical signs of lower respiratory tract infection. The infant had been born after 32 weeks of gestation with a birth weight of 1 250 g by caesarian section because of fetal bradycardia. After an uneventful neonatal period she could be discharged at the age of 36 postmenstrual weeks. Respiratory symptoms started 2 weeks before readmission. The other household members declared that they had been free of respiratory infections meanwhile. On admittance, a blood count revealed a hyperleukocytosis of 126 400 leukocytes/μl (precursor cells 20 %, band neutrophils 14 %, segmented neutrophils 35 %, eosinophils 4 %, basophils 1 %, lymphocytes 22 %, monocytes 4 %). The infant's markers of humoral coagulation were impaired (Quick 31 %, partial thromboplastin time 40 s, anti-thrombin III 33 %, D-dimers 10 mg/l) and she had elevated CRP (5.5 mg/dl) and ferritin concentrations (28 927 ng/ml). A blood culture and examination of nasopharyngeal aspirate for respiratory viruses were inconspicuous. In a throat swab Enterobacter aerogenes was detected. A chest X-ray revealed an atelectatic pneumonia on the right ( • ▶ Fig.