Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: report of additional three cases.

PURPOSE: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous disorder. It was described by Haberland in 1970 and is also called Haberland syndrome. It is characterized by unilateral skin lesions such as lipomas, connective tissue nevi, and alopecia with ipsilateral ophthalmological and cerebral malformations with or without psychomotor and mental retardation and early-onset seizure. METHODS: We present three pediatric cases (two boys, one girl) with ECCL. All the patients' sociodemographic, clinical, and neuroradiological data was collected. RESULTS: We describe two male (5 and 1.3 years old) and one female (15 years old) cases. All patients have unilateral left-sided alopecia with ipsilateral ocular lesion and the cerebral lesion. All patients were born at term; their past history and family histories were unremarkable. Their electroencephalograms showed hemispheric asymmetry. All of the cases had right-sided mild to moderate hemiparesis. In addition, our second case is having optic glioma and this case is the fifth case with glioma associated with ECCL. CONCLUSIONS: We describe three additional cases with ECCL which is an extremely rare neurocutaneous syndrome. Also, case 2 has optic glioma and according to the literature this is the fifth case of low-grade gliomas with ECCL. We suggest that patients who have ocular lesion and ipsilateral skin lesion must be examined for ECCL, and the patients must be followed up with cerebral MRI once a year for low-grade gliomas.

Human milk antibiotic residue levels and their relationship with delivery mode, maternal antibiotic use and maternal dietary habits.

OBJECTIVE: It is important to identify undesirable toxins and metabolites present in human milk that may be passed on to nursing infants. Such residues may derive from the antibiotics that are widely used to treat infectious diseases in both humans and food-producing animals. To the best of our knowledge, there are no reports in the literature on human milk antibiotic residue levels. PATIENT AND METHODS: As a part of the Human Milk Artificial Pollutants (HUMAP) study, we aimed to evaluate human milk antibiotic residues among mothers with 7 to 90-day-old babies. Pregnant women who had received antibiotic treatment during pregnancy were excluded. The use of antibiotic prophylaxis with cefazoline sodium during labor was noted among the study subjects. Human milk antibiotic residues were evaluated with the InfiniPlex for Milk Array (Randox Laboratories, London, United Kingdom), a semi-automated system with a multi-array biochip designed to detect antibiotic residues and toxins. RESULTS: The HUMAP study included 83 mothers, ranging in age from 17 to 41 years (mean 29.7 ± 6.2 years). Of these, 59% received cefazoline sodium shortly after birth, while 41% did not receive any antibiotics during the pregnancy, delivery or lactational periods. Testing revealed that 71/83 (85.5%) human milk samples were positive for beta-lactams and 12 (14.5%) samples were positive for quinolones. There was no difference in maternal age, gestational week, delivery type, sampling time, maternal dietary habits between the mothers with quinolones or beta-lactam residues in their milk and those without (p > 0.05 for both). Beta-lactam and quinolone residues were detected in 85.7% and 23.5%, respectively, of the human milk samples of mothers who did not receive antibiotics at birth and/or during the first seven days after birth. CONCLUSIONS: We found that the majority of human milk samples included beta-lactams or quinolones, even though the mothers did not receive these antibiotics during pregnancy and lactation. Antibiotic residues in human milk may affect early maintenance of the intestinal microbiota. Previous studies have shown that antimicrobials in food might increase the risks of allergies and could lead to the development of antibiotic-resistant bacterial strains. Effective policies on food safety and appropriate antibiotic use during pregnancy and lactation are needed.

Serum biochemical markers of central nerve system damage in children with acute elemental mercury intoxication.

OBJECTIVE: Acute mercury intoxication among children can occur through unintentional exposure, and neurotoxicity is one of the main findings in acute exposures. In this study, we aimed to study the central nerve system markers, namely neuron-specific enolase (NSE), S100B, and glutamate receptor (GRIA 1) levels and discuss the mechanisms of central nerve system damage and whether these parameters could be used as markers of acute elemental mercury intoxication neurotoxicity. MATERIALS AND METHODS: This is a case-control study which includes 169 children with acute elemental mercury intoxication, who were exposed to mercury in the school laboratory from a broken jar, and 45 sex- and age-matched controls without mercury exposure. Patient group were divided into three subgroups according to the neurological examination performed during the admission. Neuropathy Group included the children with neurological symptoms including peripheral neuropathy and decreased muscle strength (n = 39) (with or without dilated pupils). Dilated Pupil Group included the children who had mid-dilated/dilated pupils (n = 52). Asymptomatic Exposure Group included the children who did not have any neurological symptoms (n = 78). Serum NSE, S100B, GRIA 1, blood, and urine mercury levels were determined. RESULTS: NSE, S100B, GRIA 1, and blood mercury levels were significantly higher in exposed group than the nonexposed subjects (Median values NSE 22.4 ng/mL, 17.2 ng/mL; S100B 0.09 ng/mL, 0.08 ng/mL; GRIA 1 70.6 pg/mL, 54.1 pg/mL, and blood mercury 15.2 µg/L, 0.23 µg/L for exposed and nonexposed groups, respectively). GRIA 1 levels found to differ between exposed and nonexposed groups and it has also been found to be increased in the subgroups with positive neurological findings compared to that in neurological finding negative groups. S100B levels were found to be increased in exposed and having neurological symptom groups. There was not a significant difference between exposed-not having neurological symptom patients and control group. NSE levels were found to be higher in all subgroups when compared to those in controls, however there was not a significant difference between the subgroups. CONCLUSION: Serum NSE, GRIA 1, and S100B were increased with mercury exposure. GRIA 1 and S100B levels were observed to have the power to discriminate neurological symptom positive and negative groups. The increase in S100B levels are thought to be protecting the neurons and preventing further NSE elevations.