The pronounced group difference suggests that PES may be considered as a behavioral indicator for differentiating ADHD patients from healthy participants.

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Adult attention-deficit/hyperactivity disorder (aADHD) has recently been better recognized and treated in many European countries. In spite of this development, aADHD still features as a "hidden" comorbidity, often not diagnosed even in patients under psychiatric treatment for other psychiatric disorders. The aim of this study was to establish the prevalence rates of unrecognized aADHD in academic centers providing regular psychiatric services in the Czech Republic and Hungary. In a population of psychiatric in-and outpatients, Adult ADHD Self-Report Scale was administered. All positively and about half of the negatively screened subjects were clinically interviewed and the DSM diagnosis of ADHD was determined based on the symptom list and Conners' Adult ADHD Rating Scale. The estimated point prevalence rate of unrecognized comorbid aADHD among psychiatric in-and out patients was 6.99% (95% lower CI: 5.11, 95% upper CI 8.86) according to the DSM-IV-TR criteria and 9.27% (95% lower CI: 7.13, 95% upper CI 11.40) according to the DSM-5 criteria. Current suicide risk was significantly associated with the presence of undiagnosed aADHD; however, life time suicide attempts, depression, dysthymia, alcohol and substance dependence, anxiety and stress related disorders were not. Further educational efforts are needed to improve the recognition and treatment of aADHD in adults

Smith-Lemli-Opitz (SLO) syndrome is an autosomal recessive disorder characterized by multiple congenital abnormalities and mental retardation. The condition is caused by the deficiency of 7-dehydrocholesterol reductase (DHCR7) which catalyzes the final step in cholesterol biosynthesis. Biochemical diagnosis is based on increased concentration of 7-dehydrocholesterol (7-DHC) in the patient serum. Both life expectancy and quality of life are severely affected by the disease. The estimated prevalence of SLO syndrome ranges between 1:20,000 and 1:40,000 among Caucasians. Although the mutational spectrum of the disease is wide, approximately 10 mutations are responsible for more than 80% of the cases. These mutations show a large interethnic variability. There are no mutation distribution data from Hungary to date. Thirteen patients were diagnosed with SLO syndrome in our laboratory. As first-line tests, serum 7-DHC and total cholesterol were measured and, in positive cases, molecular genetic analysis of the DHCR7 gene was performed. Complete genetic background of the disease could be identified in 12 cases. In 1 case only 1 mutation was detected in a heterozygote form. One patient was homozygous for the common splice site mutation c.964–1G>C, while all other patients were compound heterozygotes. One novel missense mutation, c.374A>G (p.Tyr125Cys) was identified.

Hyperinsulinemic hypoglycemia (HH) is one of the most common causes of persistent hypoglycemic episodes in neonates. Current pharmacologic treatment of neonatal HH includes diazoxide and octreotide, whereas for diffuse, unresponsive cases a subtotal pancreatectomy may be the last resort, with questionable efficacy. Here we report a case of congenital diffuse neonatal HH, first suspected when severe hypoglycemia presented with extremely high serum insulin levels immediately after birth. Functional imaging and genetic tests later confirmed the diagnosis. Failure to respond to a sequence of different treatments and to avoid extensive surgery with predictable morbidity prompted us to introduce a recently suggested alternative therapy with sirolimus, a mammalian target of rapamycin inhibitor. Glucose intake could be reduced gradually while euglycemia was maintained, and we were able to achieve exclusively enteral feeding within 6 weeks. Sirolimus was found to be effective and well tolerated, with no major adverse side effects attributable to its administration. PATIENT PRESENTATIONOur patient, a male infant, was born by normal vaginal delivery during the 37th week of gestation after an uneventful pregnancy. Birth weight was 4400 g, and 1-and 5-minute Apgar scores were 10 and 10. Both parents and the baby's 2 older siblings had unremarkable medical histories. A right-sided clavicular fracture was noted on first examination, which did not warrant additional intervention. Two hours after delivery, tremor and irritability were observed, with severe hypoglycemia (0.5 mmol/L, 9 mg/dL). High doses of intravenous glucose (up to 20 mg/kg per minute) and occasional glucagon boluses were needed to normalize the persistently low blood glucose levels. The diagnosis of hyperinsulinemic hypoglycemia (HH) was based on the clinical picture and on the laboratory values (glucose, 0.5 mmol/L; concomitant serum insulin, 130.7 mU/mL; growth hormone, 18.3 ng/mL; thyroidstimulating hormone, 8.2 mU/L; free thyroxine, 20.5 pmol/L; cortisol, 835 nmol/L), and samples were sent for genetic testing.Diazoxide therapy (with hydrochlorothiazide 1 mg/kg per day) was commenced on day 4 and was gradually increased to a maximum dose of 20 mg/kg per day without any effect. Somatostatin treatment (introduced as intravenous, subsequently modified to subcutaneous) was initiated on week 2 and increased to a maximum dose (35 mg/kg per day), but only a 20% reduction in total glucose requirements was achieved. On week 4 nifedipine was added to the therapeutic regimen, but it was discontinued after a week because of lack of response (Fig 1).