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Biomedical subjects

G L Casara

Publications and source records attributed to G L Casara.

At least 19 recordsLinked to original sources
PubMed1993

Congenital muscular dystrophy, brain and eye abnormalities: one or more clinical entities?

Four children with congenital muscular dystrophy (CMD), eye and brain abnormalities are described. Their clinical and neuroradiological features are compatible with a diagnosis of Walker-Warburg syndrome (WWS), according to the criteria proposed by Dobyns et al. (i.e., presence of type II lissencephaly, typical cerebellar and retinal malformations, CMD), who also conclude that WWS is indistinguishable from the muscle-eye-brain disease (MEBD) described by Santavuori. On the basis of our own experience and two recently published series, we emphasize certain features that are different in patients with WWS and patients with MEBD, which make their inclusion in the same syndrome dubious.

Abnormalities, Multiple↗
PubMed1992

Hyperthyroid-induced chorea in an adolescent girl.

Hyperthyroidism is invariably accompanied by nervous system dysfunctions. Irritability, emotional lability and hyperkinesia are the signs and symptoms most frequently observed. Chorea or choreoathetosis are only rarely associated with hyperthyroidism. It is the purpose of this work to describe the case of a young girl in whom chorea was the main manifestation of thyrotoxicosis. The chorea receded and disappeared as the patient became euthyroid. Hyperthyroidism, therefore, is to be considered an unusual cause of chorea and every patient with choreiform movements should be examined also for thyroid function.

Adolescent↗
PubMed1990

Hypomelanosis of Ito and hemimegalencephaly.

Hypomelanosis of Ito is a congenital neurocutaneous syndrome with a particular pattern of swirling hypopigmentation. Multiple extracutaneous abnormalities involving the central nervous system, the eyes, and musculoskeletal structures occur in over two-thirds of the cases. This report describes two patients with typical unilateral cutaneous lesions associated with extracutaneous features, including hypertrophy of the cerebral hemisphere contralateral to the cutaneous hypopigmentation. Magnetic resonance imaging and EEG findings support the diagnosis of hemimegalencephaly, as has recently been reported in other isolated cases of this rare phakomatosis.

Brain↗
PubMed1990

99mTc HM-PAO SPECT in pediatric migraine.

99mTC HM-PAO SPECT brain imaging was performed during the headache-free period in 19 young migraineurs, affected by common migraine (CM, 10 cases), classic migraine (CLM, 6 cases) and hemiplegic migraine (HM, 3 cases). SPECT findings were negative in all 10 patients with CM, in 3 cases of CLM and in 2 cases of HM. Positive findings in the remaining 4 patients (3 cases of CLM and 1 of HM) showed a decreased tracer distribution in the temporo-occipital regions (2 cases) and parietal regions (2 cases): the two with decreased temporo-occipital perfusion reported prodromal symptoms exclusively contralateral to the areas of hypoperfusion. An impaired regional cerebral vascular autoregulation may exist even during headache-free intervals in patients suffering from classic and hemiplegic migraine.

Adolescent↗
PubMed1987

Bilateral cerebral occipital calcifications and migraine-like headache.

Computed tomography scanning in two young patients with recurrent, pulsating, migraine-like headache showed parieto-occipital calcifications. One patient presented with an atypical form of the Sturge-Weber syndrome, and the other with celiac disease and folic acid deficiency. The clinical features were analyzed and compared with those in other cases reported in the recent literature which have shown bioccipital calcifications but no cutaneous angiomas, sometimes associated with visual and/or intelligence deficit and epilepsy. Finally, the possible connection between cerebral calcifications and headache is discussed.

Adolescent↗
PubMed1986

Impairment of polymorphonuclear leucocyte function during therapy with synthetic ACTH in children affected by epileptic encephalopathies.

Therapy with synthetic ACTH (zinc tetracosactide) in children affected by epileptic encephalopathy is often associated with a large number of infectious complications. We studied the phagocytic activity of polymorphonuclear leucocytes (PMN) in 9 children with West or Lennox-Gastaut syndrome, measuring PMN superoxide anion production during the phagocytosis of particles of Zymosan and after phorbol myristate acetate (PMA) stimulation. The test was performed before, during and after therapy with zinc tetracosactide (0.02 mg/kg/day for 15 days). At the same time plasma immunoglobulins, C3, C4, C3 activator and cortisol were determined. During treatment PMN phagocytic function was significantly reduced but returned to normal levels after suspension of therapy. The other hematological parameters considered remained within the normal range. During the follow-up of the patients we observed 15 infectious episodes (3 mucocutaneous candidiasis, 2 enterocolitis, 4 urinary tract infections, 1 otitis media, 3 bronchiolitis, 2 pneumonia). One of the patients died of a bilateral pneumonia. Three children were treated with ACTH on alternating days. In these patients PMN phagocytic activity was less impaired and 2 infectious episodes rapidly resolved. Alternate day ACTH therapy seems to be preferable.

Adrenocorticotropic Hormone↗
PubMed1985

Risk factors in long-term sequelae of central nervous system prophylaxis in successfully treated children with acute lymphocytic leukemia.

Seventy-two successfully treated patients with acute lymphocytic leukemia, all in first complete remission and all off therapy, who had received CNS prophylaxis (radiotherapy, 2,400 rad, plus intrathecal methotrexate), were studied by computed tomography (CT) of the brain, EEGs, and neurologic evaluations 3 to 9 years after the end of prophylaxis. Thirty-five patients showed CT brain scan abnormalities: intracranial calcifications (twelve); widening of the subarachnoid spaces (eight); isolated dilatation of ventricular spaces (three) and with frontal periventricular hypodensity (two); dilatation of ventricular and subarachnoid spaces (nine); and a hypodense area (one). Only 17 patients showed aspecific EEG abnormalities which were never linked to CT scan findings. None of our patients presented major motor deficits at the neurologic examination. A stepwise logistic regression technique showed that age less than 5 years at the time of prophylaxis was the most important risk factor (p = 0.008) of CT brain scan abnormalities followed by neurets (p = 0.037) and sex (p = 0.10). Furthermore, the multivariate analysis pointed out that the interactions between these variables were not significant and the effects were only of the first order.

Acute Disease↗
PubMed1985

Carbamazepine and carbamazepine-10,11-epoxide serum concentrations in epileptic children.

Carbamazepine (CBZ) and carbamazepine-10,11-epoxide (CBZ-epox) steady-state serum concentrations were measured in 82 children who had generalized tonic-clonic, or partial seizures. There was no correlation between a given dose and serum concentrations, whether other anticonvulsant drugs were used or not. Epileptic children receiving polytherapy (CBZ associated with one or more of the following drugs: phenobarbital, primidone, phenytoin, ethosuximide) had significantly different CBZ clearance values and percent CBZ-epox than did patients given CBZ alone. Even though given lower doses, girls had higher CBZ concentrations and lower CBZ clearance values than did boys. Older girls had lower serum concentrations of CBZ-epox than did younger girls. Seizure-free children had higher CBZ serum levels and lower CBZ clearance values than did those with uncontrolled seizures. The percentage of CBZ-epox in children with uncontrolled seizures was significantly higher than in children without seizures. These data indicate that serum levels of CBZ and CBZ-epox correlate more with factors such as associated drugs, age, and sex than with administered dose. Therefore, CBZ serum level monitoring represents an essential means of individualization of anticonvulsant drug therapy.

Adolescent↗
PubMedDate not supplied

Electroclinical diagnosis of Angelman syndrome: a study of 7 cases.

The authors describe 7 new cases of Angelman syndrome (AS: 3 males and 4 females) diagnosed on the basis of clinical features (dysmorphic facial features, severe mental retardation with absent speech, peculiar jerky movements, ataxic gait and paroxysms of inappropriate laughter) and neurophysiological findings. Failure to detect deletion of the long arm of chromosome 15 or the absence of epileptic seizure were not considered sufficient to exclude a diagnosis of AS. Feeding problems, developmental delay and early signs of ataxia, especially tremor on handling objects and unstable posture when seated, proved effective as clinical markers for early diagnosis of AS. The EEG patterns characteristic of AS were found within the first 2 years of life (under 18 months in the majority of cases). The authors conclude that AS should be included in differential diagnosis in a child aged under 12 months having cryptogenic psychomotor retardation with prevalent language compromise. Repeat EEG recordings are needed to check for the typical trace, and cytogenetic investigations are mandatory.

Angelman Syndrome↗
PubMedDate not supplied

Neonatal tuberous sclerosis presenting with intractable seizures.

A 2-day old girl with status epilepticus, unresponsive to maximum pharmacological intervention, is reported. Findings of brain and cardiac lesions pointed to the diagnosis of tuberous sclerosis. One of the brain lesions was unusually large, occupying most of the right temporo-parietal lobe.

Anticonvulsants↗
PubMedDate not supplied

CT and ACTH treatment in infantile spasms.

Computed tomography of 8 cases with West's syndrome before, during and after ACTH treatment are reported. The scans, performed at the third week of therapy, showed consistent widening of the sulci, cisterns and ventricles in all the patients. Of these, 2 patients underwent ICP monitoring which showed higher than normal values. A return to the normal ICP values in association with the disappearance of the CT findings was observed in both cases. It is concluded that widening of the sulci, cisterns and ventricles are not findings of atrophy, but a condition of initial communicating hydrocephalus, which is in accordance with the hypotheses of Riikonen and Lyen.

Adrenocorticotropic Hormone↗
PubMedDate not supplied

[Gastroesophageal reflux and infantile cerebral palsy: our experience and review of the literature].

22 infant and children, all tetraplegic from cerebral palsy were admitted to our hospital for suspected gastroesophageal reflux. This working diagnosis was confirmed in 17 of them (77%) by an upper GI series and/or 24 hour oesophageal pH monitoring. All 17 were treated with medical therapy. In only 12.5% of them gastroesophageal symptoms improved. Seven children underwent surgery with complete resolution of vomiting in 57% of cases. These data confirm the high frequency of gastroesophageal reflux in children with cerebral palsy and its poor response to medical therapy. Most of these patients require surgical treatment, which unfortunately does not always resolve this vexing problem.

Adolescent↗
PubMedDate not supplied

[Rett syndrome: clinical aspects and EEG for an early diagnostic assessment].

Clinical and EEG findings have been analysed in six patients with Rett syndrome with a mean follow-up of 3 years and 9 months. After reviewing the diagnostic criteria for inclusion, which are essentially clinical, we emphasize two aspects which have been shortly considered in the literature: a) epileptic seizures, b) peculiar differential characteristics between primary autism and the Rett syndrome behaviour. Moreover, we underline the importance of serial EEG poligraphic records for early diagnosis.

Autistic Disorder↗