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Biomedical subjects

M Bado

Publications and source records attributed to M Bado.

31 records · Page 2Linked to original sources
PubMed1996

Severe dystrophinopathy in a patient with congenital hypotonia.

We studied a 2-year-old child with congenital hypotonia and proximal muscle weakness. There was no family history of neuromuscular disease. The child also had hypospadia. The central nervous system was apparently not involved. Muscle biopsy showed a dystrophic pattern and dystrophin was absent as shown by immunofluorescence and by Western blot. Vinculin and spectrin were also reduced, while merosin was normal in muscle fibers. This observation suggests that congenital hypotonia may be associated with a severe form of dystrophinopathy.

Abnormalities, Multiple↗
PubMed1996

Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency.

We studied three new cases of congenital muscular dystrophy (CMD) with homogeneous clinical and laboratory features, represented by congenital muscle hypotonia and weakness, early contractures, elevated serum CK, and dystrophic pattern at muscle biopsy, without clinical impairment of CNS. Merosin, the laminin isoform that contains the alpha 2 heavy chain, was absent in muscle fibers of all the patients by immunohistochemistry and by immunoblot. By electron microscopy, we found a severe disruption of muscle fiber basal lamina, but not of blood vessel basal lamina, which contains the laminin alpha 1 heavy chain isoform. This disruption may play a key role in the degeneration of muscle fibers and in the abnormal proliferation of connective tissue seen in CMD.

Basement Membrane↗
PubMed1995

[Early myoclonic encephalopathy and spinal muscular atrophy type I].

The authors describe the case of a floppy baby with the typical features of early myoclonic encephalopathy, represented by erratic and partial myoclonus of early onset and electroencephalographical suppression-burst pattern. Muscle biopsy made it possible to recognize an important neurogenic pattern, suggesting a severe form of spinal muscular atrophy. The association of these two disorders has never been reported.

Brain↗
PubMed1995

[Cardiofacial syndrome. A case report].

A case of cardio-facial syndrome with dysmorphic and asymmetric crying face, congenital heart defects, failure to thrive is described. The authors review the literature and underline the importance of asymmetric crying face as a marker of associated congenital anomalies.

Adolescent↗
PubMed1994

[Muscle phosphorylase deficiency in childhood. A case report].

Myophosphorylase deficiency or McArdle's disease is rarely recognized in childhood. The onset is generally in adolescence or in adult age with exercise intolerance, muscle cramps and myoglobinuria. Two siblings of 6 and 2 years of age are described. The first patient showed early fatigue and both had elevated CK levels. Morphological and biochemical studies of muscle biopsies revealed a defect of myophosphorylase.

Child↗
PubMed1993

Report on a patient with congenital muscular dystrophy, hydrocephalus, Dandy-Walker malformation and leukodystrophy.

We report on a patient affected by congenital muscular dystrophy, severe psychomotor retardation, severe hypotonia, papillar hypoplasia and peculiar NMR pattern of hydrocephalus, Dandy-Walker malformation and leukodystrophy. These findings are intermediate between Walker-Walburg syndrome, Fukuyama disease and Occidental congenital muscular dystrophy. Our case focuses on the wide spectrum of congenital muscle dystrophy associated with central nervous system disease and on the difficulties of genetic counseling in these families.

Abnormalities, Multiple↗
PubMedDate not supplied

[The role of liver in muscular dystrophy].

Epidemiological or anamnestical data may either help or confuse the differential diagnosis of various diseases mainly characterized by asymptomatic hypertransaminasemia. Occasional finding of transaminase elevation may lead to suppose chronic or persistent hepatopathy, particularly when the patient seems to be asymptomatic and presents anamnestic data suggesting intoxication, acquired infection from blood derivatives, origin from geographic areas with high prevalence of viral hepatitis. However, the true existence of hepatic damage, concurrent to a myopathy, may be also related to the primitive diseases. There is evidence, in fact, that in the presence of muscular dystrophy, a disease caused by structural defects of muscular membranes, also hepatocytes show ultrastructural defects. The present work reports the cases of 5 children, hospitalized at the 1st Clinic of Infectious Diseases of the University of Genoa, affected by persistent hypertransaminasemia and showing anamnestical data suggesting hepatitis; histological findings of hepatitis were effectively shown in 3 patients after needle biopsy. All patients proved to be affected by muscular dystrophy. Hepatic damage results cannot be correlated to known causes of hepatopathy. During disease courses heralded by asthenia and hypertransaminasemia, differential diagnosis must take into account non-hepatic diseases, like muscular dystrophy. Although this disease mainly affects the muscle, also the liver seems to be involved, as suggested by histological changes found in some patients.

Adolescent↗