Calcinosis cutis in a newborn caused by minimal calcium gluconate extravasation.
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Biomedical subjects
Publications and source records attributed to S Domizio.
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Perinatal brain injury is associated with pathological conditions caused by pathogenetic mechanisms that remain unclear. Brain lesions can result not only from brain injury but may also originate during fetal growth. Fetal encephalopathy includes 4 groups of causes: maternal, fetal, placental and idiopathic. Hypoxic-ischemic lesions (periventricular leucomalacia and subcortical leucomalacia) and hemorrhage lesions (germinal hemorrhage) are discussed.
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To evaluate prenatal and perinatal risk factors for early neonatal seizures, we conducted a case-control study including 100 newborns with neonatal seizures in the first week of life and 204 controls randomly selected from a list of healthy newborns born in the same hospital during the study period. Generalized tonic seizures were the most common seizures observed (29%), although the majority of newborns (71%) experienced more than one type of seizure. The most frequent presumed etiology of neonatal seizures was hypoxic-ischemic encephalopathy (30%). A history of epilepsy in first-degree relatives was found only for cases. Neonatal seizures were found to be associated with maternal disease in the 2 years before pregnancy, mother's weight gain > 14 kg during pregnancy, placental pathology, preeclampsia, low birthweight, low gestational age, and jaundice in the first 3 days of life. The need for cardiopulmonary resuscitation was found only for cases (37%). The causal pathways for neonatal seizures often begin before birth, and some of the factors identified may be preventable.
We studied six children with ages ranging from 4 to 10 years who were affected by childhood epilepsy with occipital paroxysms and presented after a stormy onset with prolonged loss of consciousness for 6-14 h. In all these patients, seizures were preceded by visual symptoms in the form of colored circular disks. A CT scan was performed immediately after the onset of symptoms and was normal in all patients. Routine laboratory and cerebrospinal fluid examinations were normal in all patients. The interictal EEG was characterized by continuous or subcontinuous occipital spike wave discharges, which disappeared after the patients' eyes opened. We carried out a 7-year follow-up of all these patients. Only two patients were treated with antiepileptic drugs. The therapy (phenobarbital, clobazam) in the two patients did not induce changes in the EEG pattern. The first did not suffer any further seizures. The second patient had two more seizures (at 8 and 18 months from the onset) with phosphenes, confusional state, and involuntary movements followed by loss of consciousness. Among the other four patients, who did not receive any treatment, only one had any other seizures. The stormy onset of the syndrome described in our six patients emphasizes the extreme variability in the presentation of this type of childhood epilepsy. Our follow-up confirms the good prognosis of this epilepsy even when it has a stormy onset.
Two types of childhood epilepsy have recently been reported: childhood epilepsy with occipital paroxysms, and benign nocturnal childhood occipital epilepsy. This article reports the clinical evolution, electroencephalographic (EEG) changes, and response to therapy of eight children with childhood epilepsy with occipital paroxysms (five boys and three girls, aged from 1 1/12 to 8 years) and eight children with benign nocturnal childhood occipital epilepsy (six boys and two girls, aged from 1 4/12 to 8 3/12 years). A careful clinical and EEG follow-up of at least 7 years was carried out for all patients. At the end of follow-up, all but one of the patients with childhood epilepsy with occipital paroxysms were seizure-free, and only two were still receiving anticonvulsant drugs. All but three children had a normal EEG, and normal mental development was observed in all but two cases. Patients with benign nocturnal childhood occipital epilepsy had a good long-term prognosis; all but two children with benign nocturnal childhood occipital epilepsy had a normal EEG. These two patients showed learning disabilities and poor school performances, and required remedial education. Therefore, although childhood epilepsy with occipital paroxysms and benign nocturnal childhood occipital epilepsy are two different types of epilepsy, the long-term prognosis seems to be similar.
The aim of the study was to evaluate the long-term evolution of headache associated with rolandic centrotemporal spikes (CTS). The patient group consisted of a group of 32 children who suffered from headache and presented CTS at electroencephalogram (EEG). As the control group, we selected 52 sex- and age-matched children with headache without any EEG abnormalities. During a follow-up of 5 years none of them showed epileptic seizures. The number of headache attacks decreased in the majority of patients, as in the controls. A good correlation could be identified between CTS and the number of headaches attacks both at baseline (r = 0.58, P < 0.001) and at follow-up (r = 0.64, P < 0.001). In four children (12.5%), the frequency of headache attacks increased and this increase was associated with a higher frequency of CTS. In two patients, a change in the EEG pattern was observed during follow-up, with a 'migration' of the epileptiform complex from central to parietooccipital leads. In conclusion, these findings confirm that CTS are not pathognomonic of centrotemporal epilepsy and that evolution of CTS and headache in children are statistically related.
OBJECTIVE: This study was undertaken in order to determine the natural evolution of centro-temporal spikes (CTS) in a healthy paediatric population. METHODOLOGY: Forty children and adolescents (mean age +/- SD: 9.9 +/- 4.1 years) with non-epileptic disturbances (tics, headache, pavor nocturnus, vertigo, etc), who showed CTS during routine EEG recordings were studied. No patient suffered from seizures. A clinical and electroencephalographic follow-up of at least 5.5 years was carried out in all subjects. RESULTS: At the follow-up examination, 33 of the 40 cases (82.5%) had no CTS or other epileptic discharges in awake and sleep EEGs, while six subjects continued to show CTS discharges in sleep EEG. Among those subjects who showed persistence of CTS in sleep EEG, rolandic epilepsy developed in two cases, while all other subjects continued to be seizure free. CONCLUSIONS: This study demonstrates that CTS can be present in non-epileptic children and adolescents; in the majority of subjects this EEG abnormality disappears spontaneously and only a small percentage of subjects who have persistence of this pattern develops rolandic epilepsy.
We studied six children (four girls and two boys) suffering from cryptogenic myoclonic absence seizures with early onset. The age at onset of the seizures ranged between 6 and 27.8 months (mean age +/- SD: 18.5+/-12.4 months). The neurologic evaluation was normal in all patients at the first hospital admission. After the diagnosis, we followed up all children for at least 5 years. At the end of follow-up, two of these patients (a girl and a boy) showed severe mental retardation, a high number (from one to three per day) of seizures, and persistent pathologic electroencephalograms. The other patients showed normal electroencephalograms: all of them were seizure free and without mental retardation. The two patients with mental retardation have been treated with polytherapy. In all other children we used valproate alone successfully. Our data suggest that myoclonic absence seizures with early onset can have a good long-term prognosis. Valproate is a useful anticonvulsant drug in these patients. Mental retardation is present only in patients with poor seizure control.
The concentration levels of serum lipids and lipoproteins were measured in three groups of children and adolescents treated with antiepileptic drugs: carbamazepine (14 patients), phenobarbital (20 patients), and valproic acid (20 patients). Patients treated with these drugs revealed significant changes in lipids and lipoproteins, but when the authors reevaluated the three groups of children 1 year after the end of treatment, a complete return to normal of all parameters was observed. These data demonstrate that the changes induced by these drugs are transient and reversible.
Three full term newborns with focal ischemic injury of the middle cerebral artery (MCA) were observed. Diagnosis was suspected by cerebral ultrasonography (US) in the first year of life and then was confirmed by CT-scan and/or MRI. All children had a history of pre-perinatal risk factors of fetal impairment. Neuropsychological outcome, ranging from normal to severe, was evaluated in all three patients; it appears to be related to the type and extension of cerebral injury. In full-term neonates with discrete, moderate or severe neurologic symptoms the possibility of focal ischemic injury in the MCA territory should be considered.
Sonographic characteristics of germinal-matrix (PGM) pseudocysts of prenatal origin detected on cranial ultrasound in preterm newborns were correlated with their outcomes. PGM cysts were classified as typical or atypical, according to their location. Typical PGM cysts were present at the head of the caudate nucleus or slightly medially, adjacent to the foramen of Monro. Cysts were defined as atypical when they were located subependymally elsewhere. Only one infant of 16 with a typical PGM cyst presented with psychomotor retardation. His cerebral scan also showed subependymal calcifications due to cytomegalovirus infection. Three babies had cysts in the frontal periventricular zones (atypical PGM cyst). They had negative cranial MRI (12-15 months of age) and normal neurological follow-up (24 months). In conclusion, isolated prenatal PGM cysts in preterm infants correlate with a normal outcome.
The cardio-facio-cutaneous (CFC) syndrome is a newly recognized syndrome characterized by congenital heart defects, a particular facial appearance and abnormalities of hair and skin; apart from these, the most evident signs are mental retardation and other neurological abnormalities. Some of the phenotypic manifestations resemble those of Noonan syndrome, but this involves different neurological problems. We report on two children affected by cardio-facio-cutaneous syndrome who have been followed up for at least 6 years. The psychomotor retardation was severe. During the follow-up period we made a careful analysis of the neurological aspects of the course in these two patients and wish to stress that some neurological features are peculiar to this syndrome and can be useful in the diagnosis.
OBJECTIVE: To assess the effect of long-term treatment of phenobarbital, carbamazepine and sodium valproate on serum lipids and lipoproteins in epileptic children. METHODOLOGY: One hundred and fourteen (55 male, 59 female) children and adolescents suffering from various types of epilepsy who received different antiepileptic drugs were studied. The patients were subdivided into three groups according to their therapy: (i) carbamazepine (35 patients); (ii) phenobarbital (34 patients); and (iii) sodium valproate (45 patients). One-hundred healthy sex- and age-matched children served as controls. Lipids and lipoprotein profile were evaluated before the beginning of the anticonvulsant therapy and after at least 2.5 years. In the patients receiving phenobarbital, we re-evaluated 12 children (seven male, five female) at the end of therapy. RESULTS: The children receiving phenobarbital showed high levels of serum total cholesterol and low-density lipoprotein (LDL) cholesterol and low levels of triglycerides, while children treated with carbamazepine had high levels of total cholesterol, triglycerides, LDL and high-density lipoprotein (HDL) cholesterol. Children treated with valproate had low triglycerides and LDL cholesterol levels with high levels of HDL cholesterol. The patients treated with phenobarbital showed a normalization of all parameters after the end of therapy. CONCLUSIONS: Anticonvulsant drugs significantly modify serum lipids and lipoproteins in epileptic children. The changes due to phenobarbital seem to be transient.
The authors describe the electroclinical aspects and long-term evolution of five (in one male and four female patients) cases of early infantile epileptic encephalopathy in the neonatal period, the most common seizures were tonic spasms (either generalized or lateralized) that, very often, occurred in series. All newborns showed the typical suppression-burst pattern. The neurological status (initially normal) progressively deteriorated in the subsequent months, and all infants suffered from severe mental insufficiency and daily intractable seizures. Four out of the five children developed hypsarrythmia and one, Lennox-Gastaut syndrome. The authors discuss the main problems related to the suppression-burst pattern and the long-term prognosis of this abnormality.
Intracranial tumors are rare in the neonatal period, and generally the most common histological types are astrocytoma, medulloblastoma, choroid plexus papilloma and neuroectodermal tumors. The early diagnosis of these tumors is often very difficult. The authors report a case of a full-term newborn who presented with opisthotonus. A subependymal mass was detected by cerebral ultrasonography, and when the child was 1 month of age depigmentations appeared on the trunk and on the right leg, confirming the suspicion of tuberous sclerosis. At 3 months of age the child suffered infantile spasm with hypsarrhythmia. The developmental delay, the marked progressive neurological deterioration and the daily seizures suggested surgical resection. Histologic studies showed a subependymal giant cell astrocytoma such as typically occurs in tuberous sclerosis.
We describe brain stem auditory evoked potentials (BAEP) obtained in 48 full-term newborns (20 boys, 28 girls) presenting with high serum total bilirubin concentration (from 238 to 442 mM) without Rhesus of group A, B, O factors incompatibility. Recordings were performed on the 3rd day of life and repeated 5-7 days post-appropriate therapy with photostimulation and exchange transfusion (when bilirubin concentration had decreased below 136 mM). Supplementary recordings were performed 3, 6 and 12 weeks later in order to assess test-retest reliability of components. Mean values of BAEP latencies were compared with those obtained in 40 age-matched control subjects using the same recording procedures. At first recording session (on the 3rd day), latencies of waves III and V obtained in hyperbilirubinemic patients were significantly increased as compared with records in control subjects. Recordings performed 5 to 7 days post-therapy and during subsequent recording sessions showed no significant differences between patients and control groups. Serial neuropsychological evaluations obtained over a 3-year follow-up showed no subsequent neurodevelopmental abnormality for all patients. These findings suggest that hyperbilirubinemia can alter central neurotransmission in auditory brain stem pathways, but this modification is only transient.
The authors report a case of a newborn with severe encephalopathy and cerebral calcifications. The newborn was admitted to Neonatal Intensive Care Unit in Chieti at 2 days of age suffering from continuous generalized seizures. He was the child of healthy first-degree cousins. Cerebral ultrasonography showed bilateral ventricular dilatation and an intrathlamic hyperechoic image. Computed tomography and magnetic resonance imaging showed ventricular and corpus callosus hypoplasia, pachygyria, widespread delayed myelination areas, and basal nuclei and periventricular calcifications. All serum and urine analyses showed normal results. In particular, all demyelinizing metabolic diseases were excluded. Based upon these findings, we speculate that this infant may be suffering from fetal encephalopathy with cerebral calcifications.