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Despite the fairly high prevalence of cerebral palsy as a handicap (approximately 2.5/1000) there are surprisingly few textbooks on the subject--compared with epilepsy, for example. The authors of this work, [...]

ObjectiveExamination of left ventricular function and conduction abnormalities in myotonic dystrophy.DesignTwelve patients (median age, 13.7 years) with myotonic dystrophy had detailed electrocardiography and echocardiography performed. Echocardiographic parameters were compared with body surface area (BSA) matched median normal values.ResultsFractional shortening was slightly reduced (by 28-29%) in three patients and three patients had mild mitral valve prolapse. Diastolic function was abnormal; isovolumic relaxation time (IVRT) and duration of early filling were prolonged compared with control values (median IVRT, 74v61 ms). Peak E velocity was increased (median, 0.82v 0.78 m/s) but atrial phase filling was normal. Heart rate was reduced (median, 68v 81 beats/min). Conduction abnormalities were common but showed no clear relations with diastolic abnormalities.ConclusionsYoung patients with myotonic dystrophy have myocardial diastolic dysfunction as well as abnormal electrophysiology. The prognostic implications of such abnormalities require further study.

AbstractWe report the case of a girl (D.B.) who at the age of 6 years and 7 months suffered a stroke to the left hemisphere leaving her initially mute. We monitored the recovery of D.B.'s spoken language processing over more than 2 years, using a cognitive neuropsychological approach. The initial period of mutism was followed by a rapid reappearance of vocabulary, suggestive of the recovery of previous language, rather than relearning. Early spoken language was non-fluent with pronounced word-finding difficulties, and marked by semantic and phonological paraphasias and distorted intonation, but 2 years later appeared to have recovered to normal. Confrontation naming was impaired on first testing, but was facilitated by phonemic cueing, indicating once again a difficulty with lexical access rather than lexical loss. Two years later, naming ability had recovered to an average normal level. From the first, comprehension of single words was found to be intact and early problems with sentence comprehension recovered to a superior level over the course of 2 years. Written language processing, however, remained severely impaired. We suggest that detailed longitudinal studies which investigate the nature and extent of the language disorder in individual cases, offer a principled method for the study of patterns of recovery from acquired childhood aphasia.

A 2.5 year old girl with metachromatic leukodystrophy presented with acute respiratory distress and was initially wrongly diagnosed with pneumothorax. Barium meal showed bowel loops in the left hemithorax, which prompted surgical intervention; spontaneous rupture of the diaphragm was diagnosed at surgery.