SUMMARY
Unusual neurological findings are reported in a patient whose galactosaemia had been treated early and adequately. Progressive cerebellar and extrapyrimidal disturbance occurred, but the more common ocular, hepatic and renal involvement did not. Amantadine and propranolol were helpful, but only to a limited degree.
RÉSUMÉ
Séquelles neurologiques tardives inhabituelles dans un cas de galactosémie
Des manifestations neuro‐tardives ont été observées chez un sujet dont la galactosémie avait été traitée précocément et correctement. Des troubles progressifs, cerebelleux et extrapyramidaux se manifestérent, mais sans les traductions habituelles oculaires, hépatiques et renalés. L'amantadine et la propranolol se montrèrent efficaces mais à un degré limité.
ZUSAMMENFASSUN
Ungewöhnlich späte neurologische Folgeerscheinungen bei Galaktosämie (Darstellung eines Falles)
Es wird über ungewöhnliche neurologische Befunde bei einem Patienten mit Galaktosémie berichtet, der frühzeitig und ausreichend behandelt worden war. Während fortschreitende cerebelläre und extrapyramidale Störungen in Erscheinung traten, wurden die bekannten Beteiligungen der Augen, Leber und Nieren nicht beobachtet. Amantadin und Propranolol waren therapeutisch begrenzt wirksam.
RESUMEN
Secuelas neurológicas tardias no usuales en la galactosemia (aportacíon de un caso)
Se aportan hallazgos neurológicos no usuales en un paciente cuya galactosemia había sido tratada precoz y adecuadamente. Apareció una alteración progresiva cerebelosa y extrapiramidal, pero las alteraciones más corrientes oculares, hepáticas y renales no aparecieron. La amantadine y el propanolol fueron eficaces pero sólo hasta un cierto grado.
A case of "ankyloglossa superior" is described. The operative treatment of this lesion is illustrated. The association between the tongue lesion and digital anomalies is discussed. An acquired etiology is suggested.
The occurrence of generalized glycogenosis in three siblings is reported, two of whom also were found to have endocardial fibroelastosis at necropsy. The present status of our knowledge of abnormal glycogen storage is reviewed. Attention is drawn to the occurrence of fibroelastosis of the endocardium in cases with abnormal storage of glycogen in the myocardium. Possible factors in the pathogenesis of fibroelastosis are discussed, and a grouping of cases according to these factors is given.
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