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Biomedical subjects

A Federico

Publications and source records attributed to A Federico.

At least 181 records · Page 10Linked to original sources
PubMed1991

Cerebrotendinous xanthomatosis as a multisystem disease mimicking premature ageing.

The authors report the clinical findings in 10 Italian cases of cerebrotendinous xanthomatosis (CTX). In addition to the classical neurological manifestations, the presence of psychiatric symptoms and osteopenia is stressed. Chronic treatment with chenodeoxycholic acid resulted in decreased plasma cholestanol levels and improvement of some central and peripheral neurophysiological parameters including EEG, VEP, SEP and conduction velocities. Due to the presence of cataracts, ischemic heart disease, premature atherosclerosis, mental deterioration and osteoporosis, usually found in old age, CTX can be considered a useful model of premature ageing.

Aging↗
PubMed1991

Giant axonal neuropathy in 2 siblings: a generalized disorder of intermediate filaments.

The authors report the clinical details and progress over 15 years of 2 siblings with giant axonal neuropathy with multisystem involvement. Changes in intermediate filaments (IF) were found in myelinated and unmyelinated fiber axons of the peripheral nerve and in Schwann cells, endothelial cells of skin vessels, skin fibrocytes and melanocytes, confirming a generalized disorder of IF organization.

Adolescent↗
PubMed1991

Vitamin E deficiency secondary to chronic intestinal malabsorption and effect of vitamin supplement: a case report.

We report the clinical, neurophysiological (comprehending electromyography, nerve conduction velocities, and multimodal evoked potentials), histological study of the nerve and muscle and the effect of vitamin E supplement in a 32-year-old case with chronic vitamin E deficiency subsequent to acquired intestinal malabsorption. An early diagnosis for an early treatment is essential in preventing severe neurological deterioration.

Adult↗
PubMed1990

BAEP changes in Leber's hereditary optic atrophy: further confirmation of multisystem involvement.

A neurophysiological study of 11 patients belonging to 5 families affected by Leber's hereditary optic atrophy is reported. Electromyography, nerve conduction velocities and somatosensory evoked potentials were normal. Visual evoked potentials were absent or delayed, desynchronized and reduced in amplitude. Brainstem auditory evoked potentials were anomalous in 64% of subjects all without hearing defects. These changes which have never before been reported, confirm multisystem involvement in this disease.

Acoustic Stimulation↗
PubMed1990

Cerebrotendinous xanthomatosis: clinical and MRI study (a case report).

We report a patient with cerebrotendinous xanthomatosis (CTX) presenting with dementia, spastic tetraparesis and an unreported akinetic-rigid syndrome. Computed tomography (CT) showed only cerebellar abnormalities while magnetic resonance imaging (MRI) detected additional pallidal and mesencephalic focal alterations. MRI findings, but not CT, correlated with the clinical picture.

Achilles Tendon↗
PubMed1990

Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy.

We report an 8-year-old patient with clinical features suggesting Leigh's syndrome and with a decreased activity of the E1 component of the pyruvate dehydrogenase complex in cultured skin fibroblasts. A nerve biopsy showed the presence of severe peripheral neuropathy, rarely described in the literature. The partial correction of lactic acidosis with oral sodium bicarbonate chronic therapy may result in a slow evolution of the clinical symptoms.

Acidosis, Lactic↗
PubMed1990

[Unusual anatomic coronary variants: parallel left anterior descending artery. Description of 3 cases].

Three cases with a variation of the classic anatomic left anterior descending artery pattern, encountered unexpectedly during coronary arteriography, are reported. The importance of this unusual and rare coronary artery pattern is only anatomic, and the possibility to carry out these findings by the coronary arteriography, can increase their occurrence instead of an incidental finding.

Angiocardiography↗
PubMed1990

Neurocutaneous syndromes with pigmentary abnormalities and central nervous system involvement. II. Two cases with atypical incontinentia pigmenti.

Two cases are reported of a boy and a girl with similar neurocutaneous syndromes clinically characterized by hyperpigmented skin patches and severe CNS involvement. The diagnosis of atypical cases of Incontinentia Pigmenti is suggested. The different syndromes with mental and motor retardation associated with skin abnormalities (Incontinentia Pigmenti, Ito's hypomelanosis, phakomatoses, etc.) are reviewed.

Child, Preschool↗
PubMed1990

Serum vitamin E in inherited ataxias.

We report the results on the serum vitamin E amount in Friedreich's and other inherited ataxias. Subnormal serum vitamin E values have been found confirming a possible involvement of this vitamin in the pathogenesis of the ataxic syndromes.

Adolescent↗
PubMed1989

Macrosomia and mental retardation: evidence of autosomal dominant inheritance in four generations.

We describe a large family with 14 persons presenting macrosomia with or without mental retardation in which dominant transmission is evident over 4 generations. A wide range of phenotypic variability was observed, some patients showing macrosomia and mental impairment, others only macrosomia. The cases will be discussed in relationship with other conditions in which the 2 signs may be present, and above all in Sotos sequence.

Adolescent↗
PubMed1989

Neurophysiological study in chronic GM2 gangliosidosis (hexosaminidase A and B deficiency), with motor neuron disease phenotype.

We report the electrophysiological investigation of two adult cases with GM 2 gangliosidosis with hexosaminidase A and B deficiency. Superficial peroneal biopsy was obtained from one patient. The electrophysiological alterations of the peripheral nervous system were fasciculations, signs of collateral reinnervation and loss of motor units, decrease in sensory potential amplitude and increase in distal motor latency. Increase in N9-N13 interpeak latency of the somatosensory evoked potentials and an increase I-V interpeak latency of the brain-stem auditory potentials were evident in both cases. Visual evoked potentials were normal. Nerve biopsy showed a severe loss of myelinated fibers, especially of those with the largest diameter, with no signs of segmental demyelination, or remyelination. A tentative interpretation of our findings is given.

Action Potentials↗
PubMed1989

Congenital oculo-facial paralysis (Moebius syndrome): evidence of dominant inheritance in two families.

Moebius syndrome is usually sporadic. The few familial cases reported in the literature have autosomal dominant inheritance, with absence of the associated congenital malformations often described in the sporadic form. Here we report two families with more than one member affected by congenital, unilateral paresis of cranial nerves, transmitted with autosomal dominant inheritance.

Adult↗
PubMed1988

Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia.

We report a new case of MERRF (myoclonus epilepsy with ragged red fibers) syndrome with basal nuclei calcification on the brain CT scan, without hormonal abnormalities, with high CSF protein and hyperlactacidemia, juvenile onset and death at 18 years. Biochemical study of mitochondrial muscle enzymes showed decreased NADH-cytochrome-C-reductase and Succinate-cytochrome C-reductase activity, suggesting a Complex III defect of the respiratory chain. Similar reported cases are reviewed.

Adolescent↗
PubMed1988

Cerebro-ocular dysplasia and muscular dystrophy: report of two cases.

The authors report two cases with severe cerebro-ocular malformations and muscular dystrophy who died at 14 and 8 months of age. In both, muscular dystrophy was confirmed by EMG and high muscle enzyme values. In one case, autopsy showed severe cerebral malformation consisting of lissencephaly, hydrocephalus, agenesis of corpus callosum, chiasma and olfactory bulb and lobe, absence of pyramides and cerebellar vermis. In sections of cerebral cortex a clear absence of structural cellular organization and spongiosis of the white matter were evident. Similar disorganization was found in the cerebellum where numerous calcifications were present. The muscle showed signs of primitive muscular dystrophy. The clinical autonomy of the cerebro-ocular-dysplasia-muscular-dystrophy syndrome is discussed. The clinical and pathological data are compared with the two other similar syndromes (i.e. Fukuyama's and Warburg's diseases).

Abnormalities, Multiple↗