Association between iron deficiency and febrile seizures.

OBJECTIVE: The relationship between iron status and febrile seizures has been examined in various settings, mainly in the Developing World, with conflicting results. The aim of this study was to investigate any association between iron deficiency and febrile seizures (FS) in European children aged 6-60 months. DESIGN: Prospective, case-control study. SETTING: Greek population in Thessaloniki. PATIENTS: 50 patients with febrile seizures (cases) and 50 controls (children presenting with fever, without seizures). INTERVENTIONS: None. MAIN OUTCOME MEASURES: Haematologic parameters (haemoglobin concentration, haematocrit, mean corpuscular volume, red cell distribution width), plasma iron, total iron-binding capacity, plasma ferritin, transferrin saturation and soluble transferrin receptors were compared in cases and controls. RESULTS: Plasma ferritin was lower (median [range]: 42.8 (3-285.7) vs 58.3 (21.4-195.3 ng/ml; p = 0.02) and Total Iron Binding Capacity (TIBC) higher (mean [Standard Deviation] 267 [58.9] vs 243 [58.45] µg/dl, p = 0.04) in cases than in controls. Results were similar for 12 complex FS cases (ferritin 30 (3-121 vs 89 (41.8-141.5ng/lL; TIBC 292.92 [68.0] vs 232.08 [36.27] µg/dL). Iron deficiency, defined as ferritin <30 ng/ml, was more frequent in cases (24%) than controls (4%; p = 0.004). Ferritin was lower and TIBC higher in 18 with previous seizures than in 32 with a first seizure although haemoglobin and mean cell haemoglobin concentration were higher. CONCLUSIONS: European children with febrile seizures have lower Ferritin than those with fever alone, and iron deficiency, but not anaemia, is associated with recurrence. Iron status screening should be considered as routine for children presenting with or at high risk for febrile seizures.

Multiple endocrine disorders associated with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene.

INTRODUCTION: X-linked adrenomyeloneuropathy (X-AMN) is a genetic disorder that primarily affects the adrenal cortex and the nervous system. The disease shows a wide range of phenotypic expression, age of onset, and rate of progression. PATIENT DESCRIPTION: We present a thalassemic 23-year-old man with X-AMN and multiple endocrine disorders. At age 2 years, he was diagnosed with thalassaemia intermedia, and he was receiving occasional blood transfusions and maintaining an adequate hemoglobin level without signs of extramedullar hematopoiesis or hemosiderosis. During adolescence, he was diagnosed with growth hormone deficiency, primary hypothyroidism, and primary adrenal insufficiency. In his early 20s he demonstrated progressive tetraparesis, and the diagnosis of X-AMN was confirmed by DNA analysis of the ABCD1 gene. CONCLUSION: This patient expands the phenotype X-AMN by adding growth hormone deficiency and hypothyroidism.