Data were prospectively obtained from exclusively breast-fed healthy term neonates at birth and from healthy mothers with no obstetric complication to determine risk factors for excess weight loss and hypernatremia in exclusively breast-fed infants. Thirty-four neonates with a weight loss ≥10% were diagnosed between April 2001 and January 2005. Six of 18 infants who were eligible for the study had hypernatremia. Breast conditions associated with breast-feeding difficulties (P < 0.05), primiparity (P < 0.005), less than four stools (P < 0.001), pink diaper (P < 0.001), delay at initiation of first breast giving (P < 0.01), birth by cesarean section (P < 0.05), extra heater usage (P < 0.005), extra heater usage among mothers who had appropriate conditions associated with breast-feeding (P < 0.001), mean weight loss in neonates with pink diaper (P < 0.05), mean uric acid concentration in neonates with pink diaper (P < 0.0001), fever in hypernatremic neonates (P < 0.02), and the correlation of weight loss with both serum sodium and uric acid concentrations (P < 0.02) were determined. Excessive weight loss occurs in exclusively breast-fed infants and can be complicated by hypernatremia and other morbidities. Prompt initiation of breast-feeding after delivery and prompt intervention if problems occur with breast-feeding, in particular poor breast attachment, breast engorgement, delayed breast milk "coming in", and nipple problems will help promote successful breast-feeding. Careful follow-up of breast-feeding dyads after discharge from hospital, especially regarding infant weight, is important to help detect inadequate breast-feeding. Environmental factors such as heaters may exacerbate infant dehydration.

The hyperimmunoglobulinemia D periodic fever syndrome (HIDS) is caused by recessive mutations in the mevalonate kinase gene, which encodes an enzyme involved in cholesterol and nonsterol isoprenoid biosynthesis. The pathogenesis and treatment remains unclear. We describe a 6-year-old Turkish girl with severe disease. Her clinical features were accompanied with very high acute-phase reactants including a very high serum amyloid A level. The patient responded well to anti-tumor necrosis factor treatment. Our findings support the use of this anti-cytokine treatment in HIDS.

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The Dorfman-Chanarin syndrome is a rare, inherited disorder of lipid metabolism. Early in life, the most prominent clinical feature is dryness and scaling of the skin (ichthyosis). This has been attributed to the presence of lipid droplets in the basal layer of the epidermis that promotes clefts between the granular layer and the horny layer. Additional clinical features are variable but include myopathy, mental retardation, growth retardation, sensorineural deafness and cataracts. Approximately 60% of patients with Dorfman-Chanarin syndrome have a fatty liver, usually with abnormal liver function tests, and some progress to hepatic fibrosis and cirrhosis. An important diagnostic feature is the presence of lipid vacuoles in peripheral blood leukocytes, a finding often referred to as Jordan's anomaly. These vacuoles can be identified in 25% of granulocytes and monocytes. The genetic basis for Dorfman-Chanarin syndrome has been identified as mutations in the ABHD5 (abhydrolase domain containing 5) gene, although the precise function of the enzyme encoded by the gene remains unclear.The features of the Dorfman-Chanarin syndrome illustrated below were from a 15-month-old boy who was investigated because of ichthyosis. He had an enlarged liver and spleen on physical examination. A blood count revealed mild anemia (hemoglobin, 9.5 g/L) while a peripheral blood smear showed vacuoles within the cytoplasm of circulating granulocytes (Fig. 1). Liver function tests were abnormal and sweat chloride levels were elevated (110 mmol/L; N < 70 mmol/L). The latter was attributed to ichthyosis as he did not have one of the common genetic mutations associated with cystic fibrosis. A liver biopsy revealed macrovesicular steatosis in most of the hepatocytes and an excess of fibrous tissue in portal areas (Fig. 2). The histological appearance was that of nonalcoholic steatohepatitis. In the Dorfman-Chanarin syndrome, progression of steatohepatitis to cirrhosis may occur at a relatively early age (< 10 years).