Background:Hereditary startle disease is caused by genetic defects in inhibitory glycine receptor and transporter genes. Results: Loss of function mutations in SLC6A5, with novel mechanisms of action, were identified in 17 individuals with startle disease. Conclusion: Recessive mutations in SLC6A5 represent a second major cause of startle disease. Significance: Genetic screening for startle disease should encompass both presynaptic and postsynaptic causes of disease.

Even if our report is anecdotal, LEV expands the spectrum of antiepileptic drugs that can be used for the treatment of CSWS. LEV efficacy should be confirmed in larger series.

BackgroundLeigh Syndrome (LS) is a severe neurodegenerative disorder characterized by bilateral symmetrical necrotic lesions in the basal ganglia and brainstem. Onset is in early infancy and prognosis is poor. Causative mutations have been disclosed in mitochondrial DNA and nuclear genes affecting respiratory chain subunits and assembly factors.Case presentationHere we report the clinical and molecular features of a 15-month-old female LS patient. Direct sequencing of her muscle-derived mtDNA revealed the presence of two apparently homoplasmic variants: the novel m.14792C > G and the already known m.14459G > A resulting in p.His16Asp change in cytochrome b (MT-CYB) and p.Ala72Val substitution in ND6 subunit, respectively. The m.14459G > A was heteroplasmic in the mother's blood-derived DNA.ConclusionsThe m.14459G > A might lead to LS, complicated LS or Leber Optic Hereditary Neuropathy. A comprehensive re-evaluation of previously described 14459G > A-mutated patients does not explain this large clinical heterogeneity.

Hypoglycemia is a frequent complication of preterm birth and may lead to later CNS damage. The hypoglycemia incidence and the relative risk factors for the affected preterm infants were assessed. We examined 1,500 preterm infants (<37 weeks of gestational age) consecutively admitted between January 1994 and December 1996 at the Department of Pediatrics of Padua University, and screened for hypoglycemia by Dextrostix within the first hour of life. Hypoglycemia was defined as blood glucose levels <40 mg% at Dextrostix. Among study prematures, 35% had hypoglycemia; while the incidence was 9% at levels of Dextrostix <20 mg%. The relative risk for hypoglycemia (odds ratio, OR) was computed assuming a 99% confidence interval (CI). We found 5 risk factors for hypoglycemia: cesarean section (OR 2.24, CI 1.66–3.03), intrauterine malnutrition (SGA) (OR 1.65, CI 1.08–2.53), NICU hospitalization (OR 1.45, CI 1.09–1.93), gestational age between 30 and 33 weeks (OR 1.93, CI 1.34–2.78), and twinning (OR 2.49, CI 1.77–3.56). At levels of Dextrostix <20 mg%, 3 more risk factors were found: cardiopulmonary resuscitation at birth (OR 4.06, CI 2.52–6.54), neonatal respiratory distress syndrome (OR 2.21, CI 1.34–3.36) and gestational age between 26 and 29 weeks (OR 2.16, CI 1.02–4.25). The identification of relative risk factors could be useful in improving the hypoglycemia prophylaxis, and in reducing related later CNS abnormalities.

Twin gestation is associated with higher rate of neonatal hypoglycemia than do singletons. We examined the role of specific risk factors associated with neonatal hypoglycemia of 216 premature twins and 1284 premature singletons, consecutively born in the years 1994-1996 in the Department of Pediatrics of Padua University, Italy. Significantly higher risk of hypoglycemia (Dextrostix <40 and <20 mg%) was found in twins vs singletons (54% vs 32%, OR 2.49, CI 1.77-3.56; 19% vs 8%, OR 2.65, CI 1.59-4.19, respectively). Gestational age of 34-37 weeks increased hypoglycemia risk for the premature twins (77% vs 51%, OR 3.20 CI 1.49-6.88). Twin deliveries statistically differed from those of singletons in several perinatal characteristics. More twins were born by cesarean section (85% vs 55%, OR 4.15, CI 2.48-6.95), and the birth weight of twins was much lower related to prematures with BW < 1.0 kg (12% vs 6%, OR 2.06, CI 1.11-3.82) and SGA (20% vs 10%, OR 2.41, CI 1.46-3.98). The risk of twin deliveries was increased at 30-33 weeks gestational age (25% vs 15%, OR 1.84; CI 1.17-2.90). Twins were found to have higher rates of hospitalization (50% vs 40%, OR 1.52, CI 1.04-2.23) and showed an increased risk of cardiorespiratory resuscitation (51% vs 31%, OR 2.36, CI 1.61-3.47), hypothermia (11% vs 4%, OR 3.02, CI 2.333.91), BPD (25% vs 19%, OR 2.55, CI 1.10-5.91), and PVL (4% vs 1%, OR 4.08, CI 1.23-13.5). Mortality was found more often (not significant) in premature twins. The risk for intrapartum and early neonatal morbidity was however, mostly reduced in hypoglycemic twins, while it was comparable between smaller or smaller weight discordant twins and larger twins. Similarly, SGA twins, and smaller or smaller weight-discordant twins did not show increased hypoglycemia risk. In conclusion, our findings suggest that the multiple gestation per se is the single most important relative risk factor of hypoglycemia in premature twins.