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Biomedical subjects

A Malandrini

Publications and source records attributed to A Malandrini.

At least 109 records · Page 6Linked to original sources
PubMed1993

Choreo-acanthocytosis like phenotype without acanthocytes: clinicopathological case report. A contribution to the knowledge of the functional pathology of the caudate nucleus.

Detailed clinical and neuropathological findings in two unrelated patients with a chorea-acanthocytosis-like phenotype (CA) are reported. One case met all the diagnostic criteria of CA and had a deceased brother with the same disease. The second case had a virtually identical phenotype to the former but without acanthocytes. These findings suggest that both patients are affected by the same disease and that acanthocytes are not essential to the diagnosis. Neuropathological autopsy studies on the brain of the second case showed selective atrophy of the caudate nucleus that seemed to correspond to the movement disorder and behavioural abnormalities prominent in this patient. In both subjects, morphometric and ultrastructural examination of the peripheral nerve showed loss of myelinated fibres, more accentuated distally, and cytoskeletal changes in the axoplasm. These findings support the hypothesis that peripheral neuropathy in CA is caused by distal axonopathy.

Acanthocytes↗
PubMed1993

Axonal motor and sensory neuropathy in myotonic dystrophy.

We report the neurophysiological findings from 24 subjects with myotonic dystrophy of Steinert and the histological findings in two of them. The conduction data is compared with that of a group of subjects with Landouzy-Déjérine muscular dystrophy. In 46% of cases, the electrophysiological data revealed slight and generalized axonal neuropathy. Histological results of sural nerve confirmed axonal damage of sensory fibres. The neuropathy was not correlated with age of patients, duration or onset of the disease, nor with the state of the deep reflexes; it did not show signs of progressing and is probably one of the multisystemic manifestations of gene pleiotropism.

Adolescent↗
PubMed1993

Sensory-motor hereditary neuropathy with early onset. A case report.

The early onset sensory motor hereditary neuropathy (HSMN) can be divided into two forms: the early onset type (HSMN type III or Dejerine-Sottas) and the congenital hypomyelinating neuropathy (CHN). In both cases, abnormalities of myelination are present in peripheral nerves. Symptoms include hypotonia, weakness, hypotrophy, and areflexia. Skeletal changes may be present. In CHN symptoms may be present at birth and are rapidly progressive. Many authors actually consider the two forms different. The diagnosis is based only on clinical and neuropathological criteria. Here we report a case with a typical phenotype of HSMN type III but with peripheral nerve bioptic findings suggesting a CHN.

Adolescent↗
PubMed1993

Ultrastructural sperm abnormalities and cerebellar atrophy: does a correlation exist? Report of two cases without endocrine hypogonadism.

Spermiograms were performed in two young patients with cerebellar ataxia, one familial and the other sporadic. The subjects did not have endocrine abnormalities, but there was MRI evidence of cerebellar atrophy. Light and electron microscope examination revealed sperm abnormalities similar to those described in Purkinje cell degeneration (PCD). PCD is an autosomal recessive mutation observed only in the mouse, characterized by mild ataxia due to the postnatal degeneration of cerebellar Purkinje cells and male sterility due to morphological sperm abnormalities.

Adult↗
PubMed1992

Dementia, myoclonus, peripheral neuropathy, and lipid-like material in skin biopsy during psychotropic drug treatment.

Chronic treatment of humans with several drugs is associated with lesions resembling lipidosis in different tissues. Recently, a Creutzfeldt-Jacob-like syndrome has been observed during tricyclic antidepressant therapy, but no evidence of interaction of these drugs with lysosomal function has been reported during such treatment. We report a case of dementia, myoclonus, peripheral neuropathy, and lipid storage in the skin due to antidepressant drug therapy, in which the discontinuation of drugs resulted in an improvement of clinical and electrophysiologic signs together with reduction of morphological evidence of lipid lysosomal storage.

Biopsy↗
PubMed1992

Imipramine induced lipidosis and dexamethasone effect: morphological and biochemical study in normal and chronic GM2 gangliosidosis fibroblasts.

A large heterogeneous group of lysosomotropic compounds with a common cationic amphiphilic structure induces in vitro and in vivo lysosomal lipid storage. The biochemical mechanism underlying the lipidosis is still the subject of investigation. The authors report the experimental effect of imipramine and dexamethasone on lysosomal system in cultured skin fibroblasts. Morphological and ultrastructural observations of cells treated with imipramine showed vacuoles with lipidic storage, enlarged lysosomes with electron translucent zones and normal appearance of all the other cytoplasmic organelles. The lysosomal enzyme activities were decreased on biochemical study. On the contrary, an increased enzyme activity was detected in the culture medium. Pretreatment with dexamethasone partially prevented the effect of imipramine. Our results suggest that tricyclic antidepressants may induce lysosomal lipidosis through a dysfunction in the recycling of mannose-6-phosphate receptors and in the trafficking of newly synthesized lysosomal enzymes. Moreover the data presented may provide a clue in understanding some of the side effects observed in patients chronically treated with antidepressant drugs.

Cells, Cultured↗
PubMed1991

The clinical aspects of adult hexosaminidase deficiencies.

The authors describe the clinical phenotypes of hexosaminidase deficiencies (GM2 gangliosidosis). The symptoms, differently combined, include cerebellar ataxia, motor neuron disease, dystonia, psychosis, neurovegetative troubles with different severity. Morphological changes are evident in rectal, muscle or nerve biopsies. Minor clinical changes are described in carriers from a family. A chronic GM2 gangliosidosis has to be suspected in any atypical case with the above-mentioned symptoms with autosomal-recessive inheritance.

Adolescent↗
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

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↗
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↗
PubMed1987

Endocrine inactive pituitary carcinoma metastasizing to cervical lymph nodes: a case report.

A 64-year-old woman experienced an episode of disorientation in relation to time, place, and people, as well as of visual defect and impaired balance. Physical examination showed a bitemporal hemianopsia and truncal ataxia. Computerized tomography of the skull revealed a sellar mass consistent with the diagnosis of pituitary adenoma. The patient progressively lost consciousness and died. At postmortem examination, a pituitary neoplasm with arachnoid metastases was present. Metastatic cervical lymph nodes were also detected. Histologic aspects of the primary tumor and of lymph node metastases were quite similar. Immunohistochemical investigation revealed the epithelial origin of the neoplasm and failed to disclose endocrine activity. At ultrastructural examination, the cells of the primary tumor and of the metastases lacked specific granules. These findings support the evidence of a primary metastasizing pituitary carcinoma.

Carcinoma↗
PubMedDate not supplied

Mental retardation with marfanoid syndrome: presentation of a family with different phenotypical expression.

Here we report a new case in which the clinical manifestation were compatible with the phenotype described by Lujan et al. [Am J Med Genet 1984; 17: 311-22] as 'X-linked mental retardation with marfanoid habitus'. Based upon the presence of mild psychomotor retardation, epilepsy and skeletal malformations, a sister can be considered an affected carrier, whereas an older brother showed skeletal abnormalities and juvenile glaucoma. The mother had bilateral palpebral ptosis with minimal mitochondrial abnormalities at muscle biopsy.

Adolescent↗