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Biomedical subjects

F Mulas

Publications and source records attributed to F Mulas.

At least 37 records · Page 2Linked to original sources
PubMed2002

[Interdisciplinary diagnosis in early attention].

INTRODUCTION: The diagnosis is an essential element for the therapeutic approach in Early Attention. This is considered from a multifactorial point of view in all aspects of child development. It starts with a programme to follow-up the neurological progress of children at risk and requires the collaboration of professionals trained in medicine, psychology, teaching and the social sciences. OBJECTIVE: For the interdisciplinary group to make a satisfactory diagnosis, and also find a suitable way of informing the family of this, in spite of their emotional turmoil. METHODS: A holistic approach and naturalist methods suitable to the context. CONCLUSIONS: We considered children with developmental disorders from the biological, psychological, social and educational points of view when making a functional diagnosis on which to base a plan for treatment in the 'Early Attention Service'.

Child↗
PubMed1999

[Children at risk for learning disorders].

INTRODUCTION: To find what is meant by normal learning, it is essential to understand learning difficulties not only from the anatomical but also from the functional point of view. DEVELOPMENT: We review the literature concerning risk factors for learning difficulties in order to treat them early on and attain satisfactory long-term development. CONCLUSIONS: Learning difficulties are the largest groups of disorders in everyday neuropaediatric practice. It should be remembered that in most children with learning difficulties there are undiagnosed preexisting neurological disorders, which come to light on reaching an age at which improved academic achievement is obligatory.

Child↗
PubMed1999

[Dystonia responsive to L-dopa].

A comprehensive literature review is made. Clinical characteristics, differential diagnosis, treatment with L-dopa and underlying pathological conditions are commented.

Child, Preschool↗
PubMed1998

[Risk factors in learning difficulties].

OBJECTIVE: To review the literature of the risk factors in learning difficulties (LD) and to assess these factors in children diagnosed as having LD in the Neuropaediatric Department of the Hospital Universitario Infantil La Fe in Valencia, in 1996 and 1997. MATERIAL AND METHODS: A retrospective study was done of children diagnosed in the Hospital Infantil Universitario La Fe in Valencia as having learning difficulties. The different factors related to LD were assessed. RESULTS: Between 1 January 1996 and 31 December 1997 a total of 32 children were diagnosed as having learning difficulties. There were 62.5% boys and 37.5% girls of an average age of 10 years and 10 months. The average intelligence quotient was 82.1. The commonest LD was difficulty with reading and writing. CONCLUSION: Learning difficulties form a large proportion of the routine pathology seen in the Neuropaediatric Department. It must be remembered that in most children with learning difficulties there is undiagnosed underlying neurological pathology which becomes noticeable on reaching an age at which schooling becomes more demanding.

Child↗
PubMed1997

[Familial periodic ataxia with myokymia sensitive to acetazolamide: a family case].

INTRODUCTION: Acetazolamide responsive hereditary paroxysmal cerebellar ataxia with myokymia is a type of autosomal dominant cerebellar ataxia which locus was found to be linked to the short arm of chromosome 12 and the etiology is unknown. CLINICAL CASE: A 12 years-old man who suffered from childhood daily episodes of sudden attacks sport induced with giddiness, ataxia and dysarthria for minutes. The familial history shows the same clinical findings in three generations. Intercritical general neurologic evaluation is otherwise normal. The following tests were performed with normal results: Biochemistry, electroencephalogram, cerebral magnetic resonance imaging. The electromyography showed myokymic discharges. The patient's symptoms improve on treatment with acetazolamide immediately. CONCLUSIONS: Acetazolamide responsive hereditary paroxysmal cerebellar ataxia with myokymia needs to think on it to be diagnosed. No typical complementary test (electromyography exception) induces to base diagnosis in the clinical findings, the familial history and the fast clinical improvement after starting treatment with acetazolamide.

Acetazolamide↗
PubMed1993

The Sturge-Weber syndrome: correlation between the clinical status and radiological CT and MRI findings.

In the Sturge-Weber syndrome facial venous and leptomeningeal angiomas are associated. We studied 14 consecutive cases with clinical and radiological evaluations [computed tomography (CT) and magnetic resonance imaging (MRI)]. Radiological studies demonstrated the extent and patency of the leptomeningeal angiomatous malformation, the degree of parenchymal atrophy, the presumed ischemic changes affecting the gray and white matter, the presence and extent of cortical calcifications, the prominence of the choroid plexus, the parenchymal venous anomalies, and the diploic prominence in the affected side. The white matter alterations, being greater, the extent of lobar involvement, and the degree of parenchymal atrophy all correlated with the patient's clinical status being poorer. MRI is more efficient in the detection of the radiological findings related to the clinical status: seizure control, degree of psychomotor development and hemiparesis. Therefore, MRI is the imaging modality of choice in the diagnosis of these patients.

Adolescent↗
PubMed1992

Neuroimaging in tuberous sclerosis: a clinicoradiological evaluation in pediatric patients.

CT, MRI and neurological features of 27 children with tuberous sclerosis were prospectively compared. Imaging studies were positive in 92.5% of cases. CT was more useful in detecting subependymal nodules, while MRI showed the number and location of cerebral cortical and subcortical lesions more accurately. Cortical lesions in the cerebellar hemispheres were present in 26% of patients. Gadolinium-DTPA used in 10 patients showed slight enhancement of the subependymal lesions in 80% of cases, probably representing active lesions with alteration of the blood-brain barrier. None of the cortical and subcortical lesions enhanced. Giant-cell astrocytomas were detected in 5 patients, the postcontrast CT and MRI studies improving their assessment. Unlike subependymal nodules, all tumors showed marked enhancement regardless of their size. Seizures were present in 96% of patients, mostly beginning before 1 year of age. There was no clear relationship between the radiological features and the neurological evolution of these patients. Therefore, it is not possible to establish a clinical prognosis based on the radiological findings. MRI is the procedure of choice in the diagnosis of tuberous sclerosis. When pre and postcontrast MRI are negative, CT is used to exclude small calcified subependymal nodules. MRI follow-up is required only when tumoral development is clinically suspected.

Adolescent↗
PubMed1991

Imaging considerations of central nervous system manifestations in pediatric patients with neurofibromatosis type 1.

CT and MRI were used in a prospective study of the central nervous system (CNS) manifestations in 41 consecutive children with neurofibromatosis type 1 (NF-1). Gadolinium-DTPA was used in 15 patients. MRI was more effective than CT in delimiting the extension of the optic pathway glioma and in evaluating associated cerebral malformations. MRI visualized lesions generally undetected by CT, in the form of iso- or hyperintense foci with respect to the cerebral cortex in T2-weighted sequences. Well-delimited lesions of high signal intensity were observed in the globus pallidus (22 cases), the internal capsule (6 cases), corpus callosum (2 cases), anterior commissure (1 case) and semioval center (2 cases). Poorly defined hyper- or isointense areas were also observed affecting the cerebellar white matter (21 cases) and brain stem (17 cases). None of these lesions showed Gadolinium-DTPA enhancement, and were of no clinical significance. MRI has displaced CT in the initial diagnosis of patients with NF-1. Periodic annual MRI controls are only justified in patients with MRI changes to evaluate the progression or stabilization of the lesions.

Adolescent↗
PubMed1987

X-linked dysmorphic syndrome with mental retardation.

We present a dysmorphic syndrome in eight males of the same family (four brothers, three cousins and one uncle) that is characterised by: mental retardation, facial dysmorphia, abnormal growth of teeth, skin dimple at the lower back, clinodactyly, patella luxation, malformation of lower limbs, abnormalities of the fundus of the eye and subcortical cerebral atrophy. These physical defects do not correspond to any previously described syndrome, which suggests that it is a new syndrome. According to the model of heredity this syndrome could be due to a mutant gene situated in the X-chromosome.

Abnormalities, Multiple↗
PubMed1983

[Sjögren-Larsson syndrome. Study of 2 cases].

Two siblings, a 3 1/2 years-old male and a 2 years-old female, with Sjögren-Larsson syndrome (SLS) are described. The SLS is a genetically determined syndrome with autosomal recessive inheritance, characterized by the three main symptoms: congenital laminar ichthyosis, spastic displegia and mental deficiency. Parental consanguinity not was found. Pregnancy and perinatal period of the two children was normal. Ichthyosis was found at birth. Spastic displegia was noted before the age of one year and mental retardation was suspected at the same time. The EEG is abnormal. Glistening dots in the optic fundus were not observed. Diagnostic features of this rare syndrome are reported.

Child, Preschool↗
PubMed1981

[Neurologic involvement in "incontinentia pigmenti" (Bloch-Sulzberger syndrome). Report of three cases (author's transl)].

"Incontinentia pigmenti" its a rare familial disorder of unknown origin characterized by a distinctive dermatosis, almost exclusive occurrence in females, and developmental abnormalities that affect hair, eyes, teeth and central nervous system. 30.5% of cases described in the world literature had notable C.N.S. disease. Authors report three cases of I.P. in pathognomonic pigmented stage and with severe neurologic involvement. In two cases pneumoencephalography show severe cerebral cortical atrophy. Patients had motor and mental retardation, abnormal E.E.G. and one of them a West syndrome. The third case died at the age of three months, and neuropathological examination of the brain revealed porencephalic lesions.

Abnormalities, Multiple↗
PubMed1981

[The fetal hydantoin syndrome (author's transl)].

The fetal hydantoin syndrome is a variable pattern of altered growth (pre and postnatal), mental deficiency, unusual facies, distal phalangeal hypoplasia, and other defects occurring in some infants exposed in utero to hydantoins. This altered pattern of morphogenesis is distinct from other recognized disorders. It has been reported only in the offspring of women using hydantoins. One case is presented and several aspects of the diagnosis are discussed.

Abnormalities, Drug-Induced↗