Seizures in fetal alcohol spectrum disorders: Evaluation of clinical,electroencephalographic, and neuroradiologic features in a pediatric case series

Seizures are observed with a frequency of 3–21% in children with fetal alcohol spectrum disorders (FASD). However, clinical, neuroradiologic, and electroencephalography (EEG) features are poorly described. In this study, 13 patients with FASD and epilepsy or seizures were identified retrospectively from the databases of seven Italian pediatric neurology divisions. Eleven children were affected by epilepsy, and two had at least one documented seizure. Both generalized and focal seizures were observed. EEG showed diffuse or focal epileptic activity; two children developed electric status epilepticus during sleep (ESES). Structural brain anomalies, including polymicrogyria, nodular heterotopia, atrophy, and Arnold‐Chiari type 1 malformation, were discovered in almost 50% of patients. Control of seizures was not difficult to obtain in 11 cases; one patient showed pharmacoresistant epilepsy. EEG and clinical follow‐up are recommended in children with FASD and epilepsy, since severe conditions requiring aggressive treatment, such as in ESES, may develop. Neuroradiological evaluation is warranted because several types of brain anomalies could be associated with maternal alcohol consumption during pregnancy. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here .     

Pyridoxine-dependent epilepsy: an under-recognised cause of intractable seizures

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder causing intractable seizures in neonates and infants. PDE patients are typically resistant to anti-epileptic treatment but respond to the administration of pyridoxine. Different seizure types have been reported in PDE, and episodes of status epilepticus are common. Electroencephalographic or neuroimaging abnormalities are not pathognomonic for this disorder. Intellectual disability is frequent at the follow-up. Recently, elevated urinary α-aminoadipic semialdehyde has been shown to be a reliable biomarker of this disorder, and mutations in the ALDH7A1 gene, encoding α-aminoadipic semialdehyde dehydrogenase, have been demonstrated in the large majority of PDE patients. However, early consideration of a pyridoxine trial remains the most important issue in a neonate or in an infant with intractable early onset seizures.     

Mucosal Perforation During Laparoscopic Heller Myotomy Has No Influence on Final Treatment Outcome

Background

The aims of the study were (a) to examine the final outcome in patients experiencing accidental mucosal perforation during laparoscopic Heller myotomy with Dor fundoplication (LHD) and (b) to evaluate whether perforation episodes might influence the way in which surgeons subsequently approached the LHD procedure.

Methods

We studied all consecutive patients that underwent LHD between 1992 and 2015. Patients were divided into two main groups: those who experienced an intraoperative mucosal perforation (group P) and those whose LHD was uneventful (group NP). Two additional groups were compared: group A, which consisted of patients operated by a given surgeon immediately before a perforation episode occurred, and group B, which included those operated immediately afterwards.

Results

Eight hundred seventy-five patients underwent LHD; a mucosal perforation was detected in 25 patients (2.9 %), which was found unrelated to patients’ symptom’s score and age, radiological stage, manometric pattern, or the surgeon’s experience. The median postoperative symptom score was similar for the two groups as the failure rate: 92 failures in group NP (10.8 %) and 4 in group P (16 %) (p?=?0.34); moreover, symptoms recurred in 2 patients of group A (10 %) and 3 patients of group B (15 %) (p?=?0.9).

Conclusions

Accidental perforation during LHD is infrequent and impossible to predict on the grounds of preoperative therapy or the surgeon’s personal experience. Despite a longer surgical procedure and hospital stay, the outcome of LHD is much the same as for patients undergoing uneventful myotomy. A recent mucosal perforation does not influence the surgeon’s subsequent performance.

     

Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations

PURPOSE: The role of the familial background in severe myoclonic epilepsy of infancy (SMEI) has been traditionally emphasized in literature, with 25-70% of the patients having a family history of febrile seizures (FS) or epilepsy. We explored the genetic background of SMEI patients carrying SCN1A mutations to further shed light on the genetics of this disorder. METHODS: We analyzed the occurrence of FS and epilepsy among first- and second-degree relatives (N = 867) of 74 SMEI probands with SCN1A mutations (70 de novo, four inherited) and compared data with age-matched and ethnically matched control families. Familial clustering and syndromic concordance within the affected relatives in both groups were investigated. RESULTS: The frequency of FS or epilepsy in relatives of SMEI patients did not significantly differ from that in controls (FS: 13 of 867 vs. 12 of 674, p = 0.66; epilepsy: 15 of 867 vs. six of 674, p = 0.16). Different forms of epilepsy were identified in both relatives of SMEI probands and controls. Twenty-eight relatives with FS and epilepsy were distributed in 20 (27%) of 74 SMEI families; among the controls, 18 affected relatives were clustered in 13 (18.5%) of 70 families. No pedigree showed several affected members, including the four with inherited mutations. CONCLUSIONS: A substantial epileptic family background is not present in our SMEI patients with SCN1A mutations. These data do not confirm previous observations and would not support polygenic inheritance in SMEI. The investigation of the family background in additional series of SMEI patients will further shed light on the genetics of this syndrome.     

'Benign focal epilepsy in infancy with vertex spikes and waves during sleep'. Delineation of the syndrome and recalling as 'benign infantile focal epilepsy with midline spikes and waves during sleep' (BIMSE)

PURPOSE: To better delineate the electroclinical features of infants who presented with focal seizures and typical midline sleep EEG abnormalities with a benign outcome. We discuss the significance of the typical EEG marker in non-epileptic patients. METHODS: Patients were selected from a group of epileptic subjects with seizure onset less than 3 years we observed from 1st November 1990 and 31st December 2003. Inclusion criteria were the presence of typical sleep EEG marker and focal seizures with benign outcome. Cases with less than 18 month follow-up period were excluded from this study. RESULTS: There were 19 patients (12 males, 7 females). Pre-, peri- and post-natal personal history was negative in all patients. Psychomotor development was normal, both before and after seizure onset. Neuroradiological investigations gave normal results. Seizure manifestations were typical, characterized by cyanosis, staring and rare lateralizing signs, of short duration. Age at onset was comprised between 4 and 30 months. The typical EEG marker, a spike followed by a bell-shaped slow-wave, localized in the midline regions, was present in all subjects only during sleep. All had a favorable outcome and the overwhelming majority of the patients were not treated. CONCLUSIONS: Our patients have an homogeneous electroclinical picture to constitute a new epileptic syndrome not included in the ILAE classification. We propose to call it 'benign focal epilepsy in infancy with midline spikes and waves during sleep' (BIMSE).     

Ictal EEG patterns in epilepsy with centro-temporal spikes

Purpose: To describe the EEG pattern of seizures in patients with benign childhood epilepsy with centro-temporal spikes (BCECTS). Methods: The clinical and EEG data of 701 BCECTS patients with at least a 3 years follow-up were reviewed from 10 epilepsy centers. Results: Thirty-four seizures were recorded in 30 patients. Four different ictal EEG patterns (A-D) were identified. The most frequent (pattern A) was characterized by low voltage activity of fast rhythmic spikes, increasing in amplitude and decreasing in frequency, and occurred in 14 children. Pattern B (six patients) was constituted by a discharge of spikes intermixed with sharp waves increasing in frequency and amplitude. Pattern C (seven children) consisted of monomorphic theta which progressively formed a discharge increasing in amplitude and decreasing in frequency. Pattern D (5 children) was characterized by a initial focal depression of the electrical activity, followed by one of the three above described patterns. In 21 out of 28 children, the initial ictal pattern, altered from one pattern to another one. No clinical or EEG feature was predictive of a specific ictal pattern. Discussion: We failed to identify a unique ictal EEG pattern in our patients with BCECTS. The occurrence of per-ictal features, e.g., initial EEG depression or post-ictal slowing, is common and should not be interpreted with prejudice. Alteration of ictal EEG pattern from one to another is not in conflict with the diagnosis of BCECTS.     

Pleomorphic hyalinizing angiectatic tumor of soft parts: ultrastructural analysis of a case with original features

Pleomorphic hyalinizing angiectatic tumor, a rare neoplasm of uncertain lineage resembling malignant fibrous histiocytoma and schwannoma, was first described in 1996 by M. E. F. Smith et al. (Am Surg Pathol. 20:21-29). To date, less than 100 cases have been reported in the international literature. It occurs in subcutaneous and intramuscular soft tissues of extremities or trunk in adults without sex predilection. All lesions are composed of sheets and fascicles of spindled and pleomorphic cells associated with clusters of thick-walled ectatic vessels surrounded by a perivascular hyaline material and inflammatory cells such as mast cells. About one-half of these neoplasms express CD34. No patient has developed metastases but occasional local recurrences are possible. This tumor of uncertain lineage is suggested to be an aggressive locally growing low-grade sarcoma. Only 3 cases were previously studied by electron microscopy and appeared to consist of primitive fibroblastic cells. The authors report histological and ultrastructural characteristics of a new case of PHAT excised from the right buttock of a 66-year-old man with the presence of ganglion-like cells, a feature that has not been previously reported, and unusual central ischemic necrosis. The features of this case are suggestive of a fibroblastic origin.     

Suppressive efficacy by a commercially available blue lens on PPR in 610 photosensitive epilepsy patients

PURPOSE: Photosensitivity can represent a serious problem in epilepsy patients, also because pharmacologic treatment is often ineffective. Nonpharmacologic treatment using blue sunglasses is effective and safe in controlling photosensitivity, but large series of patients have never been studied. METHODS: This multicenter study was conducted in 12 epilepsy centers in northern, central, southern, and insular Italy. A commercially available lens, named Z1, obtained in a previous trial, was used to test consecutively enrolled pediatric and adult epilepsy patients with photosensitivity. Only type 4 photosensitivity (photoparoxysmal response, PPR) was considered in the study. A standardized method was used for photostimulation. RESULTS: Six hundred ten epilepsy patients were tested. Four hundred (66%) were female patients; 396 (65%) were younger than 14 years. Three hundred eighty-one (62%) subjects were pharmacologically treated at the time of investigation. Z1 lenses made PPR disappear in 463 (75.9%) patients, and PPR was considerably reduced in an additional 109 (17.9%) of them. PPR remained unchanged only in the remaining 38 (6.2%) patients. The response of PPR to Z1 lenses was not significantly influenced by the patients' age, sex, or type of epilepsy. No difference was found between pharmacologically treated and untreated patients. CONCLUSIONS: The Z1 lens is highly effective in controlling PPR in a very large number of photosensitive epilepsy patients irrespective of their epilepsy or antiepileptic drug treatment. The lens might become a valid resource in the daily activity of any clinician who cares for patients with epilepsy.     

Quality of life after radical cystectomy and orthotopic bladder substitution: a comparison between Italian and Swedish men

OBJECTIVE: To investigate possible differences between Italian and Swedish men in health-related quality of life (HRQL) after cystectomy and orthotopic bladder substitution for bladder cancer. PATIENTS AND METHODS: Thirty-three men in Padua, Italy and 33 in Lund, Sweden were assessed after respective mean postoperative periods of 42 and 52 months. Three questionnaires were used: (i) dealing with view-of-life issues; (ii) the core questionnaire QLQ-C30(+3) from the European Organization for Research and Treatment of Cancer, with added questions on urinary symptoms and sexuality; and (iii) one focusing on postoperative psychosocial and sexual adjustment. RESULTS: While Italian and Swedish men did not differ in their central values, they differed significantly in belief-related values, such as religion. Urinary problems and erectile dysfunction were common in both groups, the former possibly commoner in the Swedish men and the latter in the Italians. Changes in mood and self-esteem were common in both groups. On a visual analogue scale, the Italian men reported a worse present mood than the Swedish men, but expressed a more favourable outlook on their future. CONCLUSION: Despite differences in philosophical attitudes between Italian and Swedish men, there were no major differences in HRQL. Caution is required in interpreting these findings because there were few participants and the possible inadequacy of the methods used to evaluate the complex concept of quality of life.