Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications.

OBJECTIVIES: Monosomy 1p36 syndrome is a recognized syndrome with multiple congenital anomalies; medical problems of this syndrome include developmental delay, facial dysmorphisms, hearing loss, short stature, brain anomalies, congenital heart defects. Epilepsy can be another feature but there are few data about the types of seizures and long term prognosis. The aim of this work was to analyse the electroclinical phenotype and the long-term outcome in patients with monosomy 1p36 syndrome and epilepsy. MATERIALS AND METHODS: Data of 22 patients with monosomy 1p36 syndrome and epilepsy were reconstructed by reviewing medical records. For each patient we analysed age at time of diagnosis, first signs of the syndrome, age at seizure onset, seizure type and its frequency, EEG and neuroimaging findings, the response to antiepileptic drugs treatment and clinical outcome up to the last follow-up assessment. RESULTS: Infantile Spasm (IS) represents the most frequent type at epilepsy onset, which occurs in 36.4% of children, and a half of these were associated with hypsarrhythmic electroencephalogram. All patients with IS had persistence of seizures, unlike other patients with different seizures onset. Children with abnormal brain neuroimaging have a greater chance to develop pharmacoresistant epilepsy. CONCLUSION: This syndrome represents a significant cause of IS: these patients, who develop IS, can suffer from pharmacoresistent epilepsy, that is more frequent in children with brain abnormalities.

Efficacy and safety of intravitreal bevacizumab for the treatment of retinopathy of prematurity: a single-center retrospective review.

PURPOSE: The aim of this study is to report our experience in the management of type 1 retinopathy of prematurity (ROP) or aggressive posterior retinopathy of prematurity (APROP) in premature infants, who received intravitreal bevacizumab (IVB) injections either as first-line monotherapy or as rescue therapy following laser therapy. METHODS: Single-center retrospective study on 37 patients (74 eyes) affected by sight-threatening ROP that underwent treatment either with IVB alone or laser photocoagulation followed by IVB at the Neonatal Intensive Care Unit of Careggi University Hospital of Florence, between 2008 and 2015. RESULTS: Seventeen patients were males (45.9%) and 20 were females (54.1%). The mean gestational age was 24 weeks and the mean birth weight was 610 g. Fifty-six eyes (75.7%) of 28 patients were diagnosed as type 1 ROP and 18 eyes (24.3%) of nine patients as APROP. Sixty-six eyes of 33 patients received IVB as first-line monotherapy, eight eyes of four patients were treated with IVB after laser photocoagulation treatment, as rescue therapy. The mean postmenstrual age at treatment was 33.9 weeks. All the patients received bilateral injections. None of the infants required repeat injections. The mean follow-up time was 59.6 months. All the patients achieved a good response to treatment, showing the regression of the proliferative phase and a complete peripheral retinal vascularization within 2 months from the injection of bevacizumab. One patient with a bilateral ROP had only a partial resolution of a vitreous hemorrhage in the left eye. The procedures were well tolerated without local or systemic adverse events during the follow-up. No infants showed recurrences. Ocular motility alterations appeared in four patients (10.8%), with the absence of stereopsis in six cases (16.20%). After treatment, spherical equivalent values in cycloplegic refraction ranged from -4.0 D to +5.0 D, with a mean value of +1.75 D. All the patients showed a normal neuropsychomotor development. CONCLUSION: Our study confirms the effectiveness and safety of IVB in the treatment of ROP, both as monotherapy and rescue therapy after laser photocoagulation, according to the published literature.

A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature.

Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency represents a group of autosomal recessive disorders characterized by impaired cortisol production due to altered upstream steroid conversions, subclassified as classic and nonclassic forms. The genotype-phenotype correlation is possible in the most frequent case but not in all. Despite in literature many mutations are known, there is the possibility of finding a new genetic pattern in patients with CAH.

Investigational small molecules in phase II clinical trials for the treatment of epilepsy.

INTRODUCTION: Epilepsy is a neurological disorder that significantly impacts the quality of life of affected persons. Despite advances in research, nearly a third of patients have refractory or pharmacoresistant epilepsy. Even though numerous antiepileptic drugs (AEDs) have been approved over the past decade, there are no agents that halt the development of epilepsy. Thus, new and improved AEDs to prevent these conditions are necessary. AREAS COVERED: We highlight recent advances in new and innovative drugs for epilepsy disorders. We review three small molecule drugs in phase II clinical trials: Cannabidivarin, BGG492 (Selurampanel) and Ganaloxone. EXPERT OPINION: The full potential of Cannabidivarin will be realized by testing in other types of treatment-resistant seizures; if they are beneficial, larger phase III clinical trials would probably be undertaken in the same patient population. About BGG492, the challenge will be to find 'superselective' AMPAR antagonists targeting only calcium-permeable receptors, with specific mechanisms, that may be attractive partners for drugs in polytherapy. Moreover, there is anew interest surrounding Ganaloxone because of a new submicron formulation that improves its absorption and pharmacokinetic profile, but new studies are necessary before progressing. Further clinical innovations will define the future for these small molecule-type drugs in epilepsy therapeutics.

Clitoromegaly in Childhood and Adolescence: Behind One Clinical Sign, a Clinical Sea.

The clitoris is a highly complex organ whose structure has only been clarified in recent years through the use of modern imaging techniques. Clitoromegaly is an abnormal enlargement of this organ. It may be congenital or acquired and is usually due to an excess of androgens in fetal life, infancy, or adolescence. Obvious clitoromegaly in individuals with ambiguous genitalia is easily identifiable, whereas borderline conditions can pass unnoticed. Case reports of clitoromegaly with or without clinical or biochemical hyperandrogenism are quite numerous. In these subjects, a comprehensive physical examination and an accurate personal and family history are needed to investigate the enlargement. We reviewed the literature on the conditions that may be involved in the development of clitoromegaly in childhood and adolescence.