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Biomedical subjects

L N Rossi

Publications and source records attributed to L N Rossi.

At least 37 records · Page 2Linked to original sources

Lumbar puncture and febrile convulsions.

We report the data of 878 selected children between 1 month and 6 years, presenting a first episode of seizure with fever. Two-hundred-fifty-five children underwent lumbar puncture. In 7 cases the CSF findings showed a bacterial meningitis, in 14 cases a viral meningitis. In 598 of the 623 children who did not undergo LP, a bacterial meningitis could be excluded on the basis of the clinical course. The data show that the probability of finding a bacterial or viral meningitis is high in children under 6 months of age even if no significant neurological signs are found on examination performed shortly after the seizure. In our study, older children affected by bacterial meningitis were clinically identifiable. In children aged 6 months to 3 years without important neurological signs, a complex seizure has been found to be a significant discriminating factor between patients with and without viral meningitis.

Child↗

Diagnostic approach in children with severely retarded psychomotor development of unknown origin.

In infants and children with severe motor and/or mental retardation combined with a loss of acquired skills or with characteristic signs, such as e.g. a cherry red spot in the fundus, it is easy to suspect the presence of a hereditary metabolic disorder and to undertake the appropriate investigations. The diagnostic approach is, however, more difficult in retarded children with an uncertain developmental stillstand. Our goal was to devise strategies of how to deal with these patients from a diagnostic point of view. We retrospectively studied 77 children affected by severe developmental lag of unknown origin and without any clear signs of improvement or regression. A diagnosis of a hereditary metabolic disorder could be established in 12 of these children. In 5 other children a chromosomal abnormality or a structural abnormality of cerebral development was detected. Sixty children remained without any aetiological or pathogenetic diagnosis; 55 of them could be reexamined clinically after one year, and 32 of these showed then a clear improvement of their mental and/or motor performance. From the individual analysis of the 77 patients and from literature we conclude that if a child presents multiple minor malformations, investigations should concentrate on chromosomal aberrations and on possible structural brain abnormalities. Metabolic studies should be performed if the same disease already occurs in the family and where characteristic signs are present. In children without such signs the psychomotor development should be reevaluated after one year. If after this year there is an improvement, there is no reason for starting extensive investigation.(ABSTRACT TRUNCATED AT 250 WORDS)

Brain↗

Intracranial tuberculomas in a child: regression on the CT scan under conservative therapy.

The case of a four-year-old boy is reported in whom the diagnosis of multiple cerebral and cerebellar focal tuberculous infections ("tuberculomas") was made. The diagnosis was based on a positive skin test, a history of contact, typical x-ray findings in the lung, CSF findings, and CT scan. The patient was treated during a three-year-period with antituberculous therapy. Sequential CT scans showed a relatively slow modification of the lesions, during a period of at least eighteen months, and thereafter their almost complete regression.

Antitubercular Agents↗

Benign migraine-like syndrome with CSF pleocytosis in children.

Four children with symptoms consistent with complicated migraine had CSF pleocytosis, in three cases lymphocytic and in the fourth polymorphonuclear. In one case the CSF abnormality was found during two separate attacks of complicated migraine. On the basis of the 23 cases reported in the literature and these four personal cases, the authors conclude that, as a rule, pleocytosis is a secondary phenomenon of an attack of complicated migraine. However, in exceptional cases an infectious disease might produce both a migraine attack and CSF pleocytosis.

Adolescent↗

Myoadenylate deaminase deficiency in a 5-year-old boy with intermittent muscle pain.

A 5-year-old boy with occasional pain of brief duration at the right or the left leg during exercise since the age of 4 years is reported. There was no weakness nor any other abnormality at the neurological examination. The serum creatine phosphokinase activity was elevated three times out of four. The electromyogram showed myopathic abnormalities in the biceps, it was normal in quadriceps and anterior tibial muscles. A quadriceps muscle biopsy was performed. There were no histological nor histochemical abnormalities at the routine techniques. However, a completely negative reaction with myoadenylate deaminase ( MADA ) stain was found. The MADA enzymatic activity in the muscle was very low. It is likely that the clinical syndrome is related to MADA deficiency.

AMP Deaminase↗

Hereditary motor sensory neuropathies in childhood.

Clinical data on 24 patients with hereditary motor sensory neuropathies, with onset in the paediatric period, and of their relatives, is reported. Electrophysiological studies were done in all patients and in 15 relatives. The patients were divided into two groups (Types I and II) and their hereditary trait was determined. In 11 patients a sural nerve biopsy was performed and revealed different patterns of histological alterations. The nerve biopsy always confirmed the value of conduction velocity in distinguishing between Types I and II. A genetic discordance was observed, both in regard to the phenotype and the conduction velocity, and there was increased slowing of the conduction velocity as individuals grew older. Thus the classification of these disorders in childhood can be particularly difficult. The rôle of sural nerve biopsy is discussed.

Adolescent↗

Complicated migraine (migraine accompagnée) in children. Clinical characteristics and course in 40 personal cases.

Forty cases of complicated migraine (c.m.) were analysed. The onset was before the age of 16 years, in the majority, however, after the 10th year. In 20 patients the first crisis of c.m. occurred in the absence of a previous history of migraine. 38 of the children had paresthesia during the crises, localized mostly to one hemisoma or a part thereof, in 3 bilateral from the beginning. In the majority of these patients the same hemisoma was always affected, the upper limb almost always. The preferred localisation of paresthesia in the face were the mouth and/or the tongue. A progression of paresthesia with a "march" of several minutes duration was frequent. In 5 children a paresis occurred, mostly at the upper part of one hemisoma, in another 4 children hemiplegia was present. In several cases signs of brainstem lesion occurred. Headache was mostly localized on the opposite side to the neurological signs. Vomiting and scotoma were frequent. In EEG done during the periods of crisis anomalies were demonstrated in the majority of our patients with a predominance of diffuse or focal slowing. In our patients there was a spontaneous tendency for c.m. to disappear upon reaching adult age. None of our 25 patients who had a neurological examination at the last check-up has shown residual deficits.

Adolescent↗

Correlation between age and plasma level/dosage ratio for phenobarbital in infants and children.

123 plasma concentration measurements of phenobarbital were obtained from 82 children (2 months - 6 1/2 years old) at steady-state conditions. The plasma level/dosage ratio has been found to have a highly significant correlation with the age of the patient both for dosage in mg/kg and in mg/m2. The ratio increases with the increase in the age of the patient at a rate which is greater for dosages expressed on the basis of body weight. Moreover, at least for body weight related dosages, this increase is relatively high in the first year of life, becoming less marked after. Practical indications are given about the required dosage of phenobarbital in different groups of ages from 2 months to 6 1/2 years. It is recommended however to regularly measure the plasma level of the drug in infants and children treated for long periods of time.

Age Factors↗

The Landry-Guillain-barré syndrome. Complications, prognosis and natural history in 123 cases.

One hundred and twenty-three patients, 68 males and 55 females in whom acute polyradiculitis Guillain-Barré appeared at an age of between 1,6 and 76 years were re-examined after 0.9 to 12.3 years. The initial symptoms, the signs during the acute phase, in particular the cranial nerve signs and central nervous signs, as well as findings in the cerebrospinal fluid and complications are described. Three patients died during the acute phase. At follow-up only 57% of the patients were completely cured. In 22% motor signs, mainly distal in the lower extremities were found. Only 6 of these patients however were handicapped. Twenty-two patients had loss of one or more tendon reflexes, in general the ankle jerk. Only 6 showed very slight central nervous system signs. Eleven of 55 follow-up cases had pathological findings in needle electromyography. A disturbance of conduction velocity or distal latency was also found in several adults and children without residual clinical signs. The time span between the maximum of the initial signs and the beginning of recovery seemed to be particularly long in patients who showed residual signs on follow-up. These patients also seemed frequently to have had a severe tetraparesis in the initial phase. We could not confirm the therapeutic effect of cortisone or ACTH in our patients: amongst the 30 adults treated with cortisone 6 (20%) had residual signs at follow-up, whilst 5 (25%) of the 22 untreated ones had similar findings.

Acute Disease↗

[Brain tumors in childhood. Clinical aspects].

The analysis of 76 case histories of children suffering from brain tumor revealed a majority in preschool age. The diagnosis at admission to the hospital was correct in 2/3 of the cases. The main causes for admission among unclear cases were headache, a history of head trauma, and epilepsy. An evaluation is made of the diagnostic value of symptoms, neurological signs, and of auxiliary investigations.

Adolescent↗

Guillain-Barré syndrome in children with special reference to the natural history of 38 personal cases.

38 children which had had an episode of Guillain-Barré syndrome were studied after a period between 2 and 12 years. The age of the children at the follow-up varied between 7 years 9 months and 27 years. 11 of the children were not completely cured from the point of view of the peripheral nervous system. 9 showed slight signs of motor weakness, 2 of which also had a slight distal atrophy of some leg muscles. None of these 9 patients however had any subjective symptoms of diminished capacity in every-day life. 2 of these and 2 other patients without any muscle weakness had loss of one or more tendon reflexes. 4 other patients apart from the 9 mentioned above had a very slight intention tremor. All of these had had some cerebellar ataxia during the acute phase. A sweat test done in 19 of the 38 controls never showed any asymmetry. 36 patients were examined electrophysiologically during the follow-up: EMG was done in only 35 and in one only conduction velocities were measured. In 16 patients a pathological EMG and (or) an anomalous conduction velocity was found. The only correlations which seemed to exist between the amount of residual findings and some elements during the acute phase of the illness were a positive correlation with the importance of maximum motor deficiency and with the time between the beginning of maximum motor weakness and the beginning of recovery.

Adolescent↗

Late infantile metachromatic leucodystrophy (MLD). Clinical and diagnostic evaluation in a typical case.

A typical case of late infantile MLD is presented with all available clinical, morphological and biochemical results. The diagnostical value of the different parameters is evaluated and the pathogenesis of the disorder discussed. In spite of successful experimental enzyme substitution in cultured MLD fibroblasts with restitution of function by added Arylsulfatase, the therapeutic possibilities for the fatal disease in the patients are extremely limited.

Age Factors↗