Biomedical subjects
J Narbona
Publications and source records attributed to J Narbona.
[Neonatal convulsions of a familial character and with a benign prognosis. Nosological classification. Apropos of a new case].
A new familial observation (3 members affected) of neonatal seizures without C. N. S. nor methabolic disturbance and subsequent normal development is reported. Seven other observations have been published before. The characteristics of this syndrome are discussed.
[Evaluation and diagnosis of torsion dystonia].
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Glycogenosis with amylopectinoid deposits in a 13-year-old girl.
We present a clinical study and muscle biopsy of a 13-year-old female who suffered hypertrophic cardiomyopathy, hepatosplenomegaly and myopathy of prolonged evolution. The muscle biopsy showed a glycogenosis with deposits of amylopectin-like material. Differential diagnosis was made with basophilic degeneration of the myocardium, and with "polyglucosan bodies disease." In the existing literature we found only one case of juvenile amylopectinosis, and another four adult cases.