Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.

Mowat-Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and is characterized by distinctive facial features, epilepsy, moderate to severe intellectual disability, corpus callosum abnormalities and other congenital malformations. Epilepsy is considered a main manifestation of the syndrome, with a prevalence of about 70-75%. In order to delineate the electroclinical phenotype of epilepsy in MWS, we investigated epilepsy onset and evolution, including seizure types, EEG features, and response to anti-epileptic therapies in 22 patients with genetically confirmed MWS.

Circulating levels of allopregnanolone, a neuroactive steroid, and leptin during treatment with valproic acid in children with epilepsy.

Weight gain is a well-known unwanted effect of valproic acid (VPA) therapy. Studies on VPA-associated changes of homeostatic hormones remain limited and controversial. Allopregnanolone (AP) is a circulating neuroactive steroid involved in modulation of behavioral activities whose serum levels are increased in obese children.

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects. Since the first delineation by Mowat et al. [Mowat et al.

Body mass index and serum lipid changes during treatment with valproic acid in children with epilepsy.

Background: Valproic acid is the drug of choice for a wide variety of epileptic seizures and syndromes because of its broad spectrum of activity and because, in most patients, it is well tolerated. Although weight gain is a well-known adverse effect of valproic acid therapy, only a few studies have addressed weight gain associated with it in children aged 2-8 years.

Objective: To evaluate valproic acid-associated changes in the body mass index (BMI) z-scores and to assess changes in serum triglyceride, cholesterol, and fasting glucose levels in young children receiving valproic acid treatment.

Private inherited microdeletion/microduplications: implications in clinical practice.

The introduction of array-CGH analysis is allowing the identification of novel genomic disorders. However, this new high-resolution technique is also opening novel diagnostic challenges when inherited private CNVs of unclear clinical significance are found. Oligo array-CGH analysis of 84 patients with mild to severe mental retardation associated with multiple congenital anomalies revealed 10 private CNVs inherited from a healthy parent.

Topiramate effects on plasma serotonin levels in children with epilepsy.

Topiramate (TPM) is a new, effective and safe antiepileptic drug. TPM is also effective in treating a wide spectrum of conditions such as eating disorders and related anomalies, bulimia nervosa and other conditions in which serotonin (5-hydroxytryptamine, 5-HT) is involved pathogenetically. Plasma serotonin mainly derives from blood platelets, which represent a valid model of serotoninergic neurons.

A comparative study of hydrocortisone versus deflazacort in drug-resistant epilepsy of childhood.

Steroids are commonly used for the treatment of intractable epilepsy. Deflazacort has shown similar effects to prednisone, but with a less worrying adverse-effect profile. In this study, we first compared the efficacy, safety, and seizure relapse rate of deflazacort versus hydrocortisone in children affected by drug-resistant epilepsies.

Efficacy and safety of topiramate in infants according to epilepsy syndromes.

Studies of the efficacy of topiramate (TPM) in infants and young children are few. Here we report an open, prospective, and pragmatic study of effectiveness of TPM in terms of epilepsy syndromes, in children aged less than 2 years. The median follow-up period was 11 months.

Post-ictal circulating levels of allopregnanolone in children with partial or generalized seizures.

Introduction: Allopregnanolone (3alpha-hydroxy-5alpha-pregnan-20-one) is a neurosteroid with a potent modulating activity on the gamma-aminobutyric acid (GABA)(a) receptor complex. It plays a key role in the epileptogenesis of partial seizures. Serum allopregnanolone concentrations significantly increase in the postcritical phase.

Epilepsy and electroencephalographic findings in pericentric inversion of chromosome 12.

Epilepsy, together with mental retardation, represents a common manifestation of chromosomal aberrations. Specific electroencephalographic (EEG) and epileptic patterns have been described in several chromosomal disorders, such as Angelman's syndrome, Miller-Dieker syndrome, Wolf-Hirschhorn syndrome, and ring 20 syndrome. A peculiar electroclinical pattern has also been identified in trisomy 12p syndrome.

Electroencephalographic and epileptic patterns in X chromosome anomalies.

Although epilepsy and mental retardation are commonly observed in individuals with chromosomal aberrations, the identification of EEG/epileptic profiles in those with specific chromosome anomalies remains difficult. A few syndromes seem to show peculiar clinical and EEG associations. The authors report an electroclinical investigation on a group of patients carrying X chromosome anomalies: 16 patients with Turner's syndrome, 17 with Klinefelter's syndrome, 1 with an X-autosomal rearrangement, 2 with Xq isochromosome [Xq(i)], and 7 with triple X syndrome.

Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia.

Hypochondroplasia (HCH) and Muenke syndrome (MS) are caused by mutations on FGFR3 gene. FGFR3 is known to play a role in controlling nervous system development. We describe the clinical and neuroradiological findings of the first two patients, to our knowledge, affected by HCH and MS, respectively, in whom bilateral dysgenesis of the medial temporal lobe structures has been observed.

Inter-ictal and post-ictal circulating levels of allopregnanolone, an anticonvulsant metabolite of progesterone, in epileptic children.

Allopregnanolone belongs to a group of neuroactive steroid hormones, or neurosteroids, synthesized and acting within the brain and is as a potent endogenous positive modulator of GABA(A) receptor complex. Administration of allopregnanolone protects rats against pentylentetrazol, bicuculline, kainic acid, and picrotoxin-induced seizures. We investigated serum allopregnanolone levels in children with active epilepsy at pubertal Tanner's stage I (n=52).

Ethylmalonic encephalopathy: further clinical and neuroradiological characterization.

Ethylmalonic encephalopathy (EE) is a rare metabolic disorder with an autosomal recessive mode of inheritance that is clinically characterized by neuromotor delay, hyperlactic acidemia, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea. Increased urinary levels of ethylmalonic acid and methylsuccinic acid are the main biochemical features of the disorder. We report on two patients affected by EE who showed different clinical and neuroradiological patterns.

Recurrent torticollis caused by dissecting vertebral artery aneurysm in a pediatric patient: results of endovascular treatment by use of coil embolization: case report.

Objective And Importance: Torticollis is a symptom that can be related to different pathological mechanisms ranging from simple to life-threatening conditions. We report a child with recurrent torticollis caused by an intracranial dissecting vertebral artery aneurysm. This is a very rare condition in childhood, and it was resolved successfully with endovascular treatment.

Cranioectodermal dysplasia: a new patient with an inapparent, subtle phenotype.

Cranioectodermal dysplasia is a rare syndrome characterized by craniofacial and skeletal anomalies and ectodermal dysplasia. Life-threatening associated conditions (i.e.

Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)].

We report on a 2-year-old girl with a de novo mutation [45,XX,der(5),t(5;14) (pter;q11.2)] with corpus callosum agenesis, multiple cysts (cerebral and cardiac), subtle eye abnormalities, and at least two different skin defects, strongly indicating neuroectodermal involvement, as a neuromuscular choristoma (hamartoma) and an eccrine hamartoma. Fluorescent in situ hybridization with different single-locus probes showed that chromosome 5 has a very small deletion, confined to a region composed of repetitive sequences.

Char syndrome: an additional family with polythelia, a new finding.

This report describes a father and daughter with Char syndrome, a rare autosomal dominant disorder. Both affected individuals had typical face, strabismus, and foot anomalies. The girl also had a patent ductus arteriosus.

MOMO syndrome: a possible third case.

This report describes a 5-year-old girl, mildly mentally retarded, with the following characteristics: macrocephaly; severe obesity; ocular abnormalities (right optic disk coloboma and left choroidal coloboma); short stature; and recurvation of the femur. The case is sporadic with no consanguinity between the parents. The condition was diagnosed tentatively as MOMO syndrome (Macrosomia, Obesity, Macrocephaly, and Ocular Abnormalities) (MIM, 157980), because of the presence of short stature, in contrast with the large stature of the only two previously described cases.

Vigabatrin treatment in children.

Sixty-nine children, aged from 2 months to 16 years and suffering from different types of drug-resistant epileptic seizures, mostly complex partial and secondary generalised, were recruited in an open, uncontrolled, prospective study of treatment with vigabatrin (gamma-vinyl GABA). Following a 3-month baseline observation period, the initial dose of vigabatrin of 10 mg/kg per day was progressively increased up to a maximum of 140 mg/kg per day, in addition to the conventional concomitant therapy. Sixteen patients showed a > or = 50% reduction in seizure frequency compared with the baseline, with complete control of seizures in nine cases.

Clinical experiences of petit mal.

Petit mal is a condition characterized by absences accompanied on EEG by discharges of 3/sec spike and waves lasting more than 3-4 seconds. In 145 patients with pure petit mal (PPM) these were the only findings. They were associated with other types of seizures (APM) in 52 subjects and with myoclonic jerks of the upper limbs.