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Biomedical subjects

F A de Falco

Publications and source records attributed to F A de Falco.

14 recordsLinked to original sources
PubMed2006

Electroclinical evolution in ring chromosome 20 epilepsy syndrome: a case with severe phenotypic features followed for 25 years.

Intractable epilepsy and peculiar EEG patterns characterize ring chromosome 20 syndrome [r(20)], while dysmorphic features, mental retardation and behavioural disturbances are widely variable. The clinical evolution of r(20) over time is not well defined as relatively few cases have been reported. Here we describe a patient with severe clinical features followed for a 25-year period. The patient was subjected to clinical, psychometric and EEG evaluation twice a year from the age of 21 years. Cytogenetic studies, using chromosome analysis and fluorescence in situ hybridization (FISH) and several immunological investigations were performed. Ring chromosome 20 was found in 50% of examined metaphases with the deletion of subtelomeric regions 20p and 20q. Our patient presented with marked dysmorphic features, severe mental retardation, tetraparesis, dysarthria and intractable epilepsy with onset during the first year of life. During follow up, EEG findings and clinical features progressively worsened: a progressive disorganization of background EEG activity occurred and mental and motor impairment evolved. The severity of clinical expression depended on the extent of chromosomal deletion and on the haploinsufficiency of other important related genetic loci due to ring instability. The progressive worsening of both clinical and EEG features over a long period, which has also been reported by other authors, further characterized this syndrome.

Abnormalities, Multiple↗
PubMed2004

Sentinel headache.

Patients with subarachnoid haemorrhage (SAH) frequently describe the occurrence of an underestimated or even ignored severe headache in the days or weeks preceding the bleeding. If recognised early, this warning headache might lead to specific investigations and, if indicated, a surgical approach might avoid a dramatic haemorrhagic event. In a recent and exhaustive systematic review, the incidence of a sentinel headache (SH) was evaluated in a range of 10-43% of SAH patients. SH seems to be due to a minor bleeding from a leak of a berry aneurysm and usually occurs in the preceding two weeks. Such a period is similar to the one for rebleeding in SAH and supports the hypothesis of the warning leak. Nevertheless, a warning headache can precede a SAH in unruptured aneurysm even without a minor bleeding. Underestimation or misdiagnosis of SH depends on incorrect evaluation of the headache characteristics (unusual, severe, abrupt, thunderclap), overestimation of cranial CT sensitivity (false negative increasing over the elapsing time), failure to perform lumbar puncture (LP) in patients with negative CT, incorrect evaluation of CSF findings (xanthochromia may be absent in the first 12 h) and failure to differentiate traumatic tap from true SAH. Considering the diagnosis of SH in all cases of a severe, sudden-onset (thunderclap) headache, and performing all the appropriate diagnostic exams, including LP if necessary, could prevent subsequent massive bleeding and its invalidating or fatal consequences.

Headache↗
PubMed2003

Benign adult familial myoclonic epilepsy: genetic heterogeneity and allelism with ADCME.

Benign adult familial myoclonic epilepsy (BAFME) has been mapped to chromosome 8q24; however, genetic heterogeneity has been recently suggested. The authors report a clinical and electrophysiologic study of two Italian BAFME families showing linkage to chromosome 2p11.1-q12.2. Their report supports the evidence of non-Japanese families with BAFME and suggests a possible allelism with the recently described autosomal dominant cortical myoclonus and epilepsy syndrome.

Adolescent↗
PubMed2003

Bioptically demonstrated Lafora disease without EPM2A mutation: a clinical and neurophysiological study of two sisters.

Lafora disease (LD) is an autosomal recessive inherited form of progressive myoclonic epilepsy with dementia and ataxia, usually presenting in the second decade of life and inexorably progressing until death. Neuropathological hallmarks are Lafora bodies, intracytoplasmic inclusions that can be found in neurons and in other tissues. LD gene (EPM2A), mapping on chromosome 6, encodes for a tyrosine phosphatase protein called laforin. However, up to 20% cases of LD are not genetically linked to chromosome 6. We report two sisters affected from bioptically diagnosed LD but without evidence of EPM2A mutation. Although familial cases of LD are already reported in literature, our observation leads to some considerations on clinical-electrophysiological evolution as well as to remark the genetic heterogeneity of this condition. In addition, we report the good effect of the Levetiracetam for the treatment of myoclonus in these patients, also demonstrated by the electrophysiological findings.

Adult↗
PubMed2001

Familial infantile myoclonic epilepsy: clinical features in a large kindred with autosomal recessive inheritance.

PURPOSE: To describe the clinical features of a large kindred with familial infantile myoclonic epilepsy (FIME) with autosomal recessive inheritance, and to discuss the nosology of the early infantile myoclonic epilepsies (IMEs). METHODS: The family descends from the intermarriage of two couples of siblings. In a previous study, we mapped the genetic locus to chromosome 16p13. We analyzed results of family records and personal history, psychomotor development, neurologic examination, epilepsy features, and EEG recordings for each subject. RESULTS: FIME has a strong penetrance (eight affected of 14 subjects) and a homogeneous clinical picture. Like the benign form of infantile myoclonic epilepsy (BIME), FIME is a true idiopathic IME with unremarkable history, no neurologic or mental impairment, good response to treatment, and normal interictal EEG pattern. Conversely, onset with generalized epileptic seizures without fever (four patients) or with fever (one patient), frequency and duration of the myoclonic seizures, occurrence of generalized tonic--clonic seizures (GTCSs) in all patients and persistence of seizures into adulthood are characteristics of the severe infantile myoclonic epilepsy (SIME). CONCLUSIONS: Clinical overlap probably exists among the myoclonic epilepsies of infancy. FIME differs from other forms of IME in its phenotypic features. The peculiar mode of inheritance is explained by the genetic background of the family. Genetic studies suggest linkage to chromosome 16 in familial cases of true IME.

Adult↗
PubMed2000

Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.

Myoclonic epilepsies with onset in infancy and childhood are clinically and etiologically heterogeneous. Although genetic factors are thought to play an important role, to date very little is known about the etiology of these disorders. We ascertained a large Italian pedigree segregating a recessive idiopathic myoclonic epilepsy that starts in early infancy as myoclonic seizures, febrile convulsions, and tonic-clonic seizures. We typed 304 microsatellite markers spanning the 22 autosomes and mapped the locus on chromosome 16p13 by linkage analysis. A maximum LOD score of 4.48 was obtained for marker D16S3027 at recombination fraction 0. Haplotype analysis placed the critical region within a 3.4-cM interval between D16S3024 and D16S423. The present report constitutes the first example of an idiopathic epilepsy that is inherited as an autosomal recessive trait.

Adult↗
PubMed1993

Correlation between hyperglycemia and cerebral infarct size in patients with stroke. A clinical and X-ray computed tomography study in 104 patients.

Infarct area size on CT scan in 104 patients with ischemic stroke was compared with blood glucose levels and with other biological parameters (arterial pressure, hematocrit, consciousness impairment, clinical picture) during the acute stage. Infarct size was also compared with the presence and severity of diabetes mellitus and other risk factors. Infarct size was significantly correlated with hyperglycemia in the acute stage (p = 0.0348), regardless of the presence of established diabetes. These findings support the hypothesis that hyperglycemia directly increases regional brain damage due to acute vascular insufficiency. Infarct size was also correlated with the presence of atrial fibrillation, consciousness impairment, severity of clinical picture and neurological outcome.

Adult↗
PubMed1991

[Clinical efficacy of picotamide].

The effects of picotamide (300 mg b.i.d.) for secondary prevention of cerebral ischemia were compared with the effects of low-dosage aspirin (300 mg/die). Out of the 87 randomized patients, 47 completed a six month period of treatment: 29 patients in the picotamide (group P) with a mean period of 14.5 months, 18 in the aspirin group (group A) with a mean period of 15.2 months. Both showed reduced incidence of further cerebral ischemic episodes in comparison with non treated patients (literature data). Using intention-to-treat analysis, the recurrence of ischemic events (including TIA) was 5.8% in group P and 14.3% in group A. Explanatory analysis yielded similar results: 10.3% of patients in group P and 27.8% in group A had recurrence of cerebral ischemic eposides. Evaluating as endpoints only RIND and stroke, the incidence was 10.3% in group P and 16.7% in group A. In conclusion, picotamide was more effective than aspirin; however the difference was not statistically significant due to the small number of patients. The drug was well tolerated and only two patients dropped out because of side effects. Picotamide did not alter laboratory tests significantly.

Adult↗
PubMed1991

Atrial fibrillation and infarct area extent in ischemic stroke. A clinical and neuroradiological study in 104 patients.

The extent of infarct area (IA) on CT-scan in 104 patients with ischemic stroke (IS) was compared with the presence of atrial fibrillation (AF) and other risk factors (hypertension, dyslipidemia, alcohol abuse). Infarct size was also compared with biological and clinical parameters in acute stage (6-12 h) (blood glucose level, systolic and diastolic arterial pressure, haematocrit, consciousness, clinical picture) and with clinical outcome. Among risk factors, only AF showed a significant correlation with IA extension (p less than .0009). IA correlated also with consciousness (p = .0017), clinical picture (p = .0145) and with clinical outcome (p less than 10(-6). Patients with AF showed a more severe clinical outcome with respect to patients without risk factors. It could be hypothesized that patients with AF have a reduced capacity for increasing or sustaining cerebral blood flow in the acute phase of IS.

Atrial Fibrillation↗
PubMedDate not supplied

Calcium antagonist nimodipine in intractable epilepsy.

The influx of Ca2+ into the neuron seems to play an important role in the genesis of epileptic seizures, and current research suggests that calcium entry blockers may have anticonvulsant activity. We used nimodipine, a calcium antagonist with high central nervous system affinity at a fixed dosage of 30 mg, t.i.d., in 21 patients with intractable epilepsy caused by organic brain lesions in addition to basal antiepileptic drug (AED) therapy. After a 12-week treatment period 14 patients (67%) showed a decrease in seizure frequency, four patients had no change, and three had an increase. In eight patients (38%) seizure frequency decreased by greater than 40%. The p value with one-tailed t-test was 0.0491. No significant modifications in AED or electrolyte serum levels were found. One patient had a lowering of blood pressure at this dosage.

Adult↗
PubMedDate not supplied

Photoparoxysmal response on eye closure in photosensitive patients.

The Authors studied the presence of photoparoxysmal response (PPR) during intermittent photic stimulation (IPS) in 2,888 consecutive EEG recordings. PPR was present in 2.3% of EEGs and 10% of all patients referred to EEG laboratory for epilepsy (45 patients, 18 males, 27 females (M:F ratio 1:1.5), mean age 12 yrs). In 24 (53.3%) of these patients PPR was evident only (24.4%) or strikingly (28.9%) on eye closure during IPS. In 7 patients no other epileptic abnormalities were found on basal EEG and during hyperventilation, nor during IPS with eyes closed and with eyes open. The Authors consider the eye closure during IPS the most useful method to reveal a PPR in photosensitive patients and believe that a good IPS technique must include this procedure in the routine EEG examination.

Child↗
PubMedDate not supplied

EEG findings in West syndrome a follow-up of 20 patients.

Clinical and EEG findings of 36 patients with West syndrome (WS) were reported. Twenty patients (7 males, 13 females; mean age 7.4 months at the first EEG examination) were followed for a mean period of 19.3 months. Fifty per cent of the 8 cases with cryptogenic SW showed a full recovery, 2 cases showed persistence of psychomotor retardation or seizures and 2 of both these features. At the end of follow-up period, 92% of the 12 patients with symptomatic WS showed a psychomotor retardation and 75% a persistence of seizures. EEG pattern was a typical hypsarrhythmic one in 11 patients and atypical in the remaining cases. The typical pattern correlated with a better outcome with full recovery in 27.3% compared with 11.1% in the group with atypical EEG. Moreover EEG monitoring was useful for the evaluation of therapeutic response and in the follow-up of the disease, showing a correlation with clinical course, incidence of spasms and outcome.

Adrenocorticotropic Hormone↗