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The observation of a thirteen-year-old boy who presented with motor developmental delay, muscular weakness and a waddling gait is reported. Moderately increased muscular enzyme activities and electromyographic findings suggested muscular disease. Histological and ultrastructural examinations of muscle biopsy specimens showed both hypotrophia of type 1 fibers and characteristic distribution of the nuclei within the sarcomere in a chainlike pattern in the center of the fiber surrounded by a space devoid of myofibrils. A few aspects of myophagia were found explaining why muscular enzyme activities were increased. The mother was clinically normal with slightly increased muscular enzyme activities and normal muscle biopsy specimens. The maternal grandmother had delayed gait abnormalities with normal muscular enzyme activities. Approximately one-hundred cases such as ours, isolated within a family, have been published. The course and the mode of inheritance suggest heterogeneity.

During investigations for cystic fibrosis, 41 children, most of whom were aged 0 to 7 years, were submitted to lung scintigraphy with technetium 99m first and xenon 133 subsequently. This procedure ensured accurate location of pulmonary lesions. The reliability of the radio-isotopic study was assessed through comparison to conventional clinical and radiological criteria, arterial blood gas determinations and pulmonary function tests. Perfusion scintigraphy with technetium 99m labelled macroaggregated albumin (n = 90) was compared to functional parametrical xenon, 133 study (n = 25) (perfusion-ventilation). The degree of lung disease was evaluated during serial examinations in order to improve prognostic prediction. Technetium 99m scintigraphy proves a reliable and sensitive procedure which accurately reflects the patients' clinical status when it is performed in the absence of patent pulmonary superinfection. Xenon 133 scintigraphy, which is more difficult to perform and interpret, has the advantage of providing a topographic and quantitative evaluation of pulmonary blood flow and ventilatory efficiency.