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Objective: To describe the natural history of cardiomyopathy in patients with Duchenne muscular dystrophy (DMD) who are receiving contemporary therapies., Methods: This is a single-institution retrospective cohort study of 57 patients aged >15 years with DMD. Serial digital echocardiograms were performed over a median follow-up of 8 years. Left ventricular dysfunction (LVD) was defined as shortening fraction (SF) <29% plus focal wall motion abnormalities. Therapies included ACE inhibitors, beta-blockers and assisted ventilation., Results: The SF declined progressively in 53/57 patients (93%). LVD occurred in 40 of 57 patients (70%), with variable age at onset (median 18 years, IQR 14-21.5 years). Rate of SF decline (-1.51%±1.16%/year) was variable and unrelated to genotype. However, survival was shorter for patients with LVD onset at age <18 years vs onset at ≥18 years (death at 21.1±2.5 years vs 33.1±4.4 years; P<0.001). Death occurred in 27/57 (47%) patients at a median age of 26.3 years (IQR 20.6-31.5). Death was preceded by LVD in 22/27 patients (81%), 15 (68%) of whom developed class 4 heart failure (CHF). Time from CHF to death was brief (median 8.0 months)., Conclusion: Despite contemporary therapies, SF declined progressively in almost all patients. Age at onset of LVD and age at death were variable and unrelated to genotype; however, survival was shortened for patients with LVD onset at age <18 years. Death was usually preceded by LVD. CHF was a sentinel event, with death occurring shortly thereafter., Competing Interests: Competing interests: None declared.

Prognosis in patients with Duchenne muscular dystrophy (DMD) is guarded, and most deaths are due to cardiac or respiratory causes. It is unclear if some DMD gene mutations might be predictive of either mild or severe cardiac dysfunction. We studied 75 patients with DMD followed at our institution. Cardiac function, as assessed by yearly echocardiography, showed marked variability in left ventricular (LV) function. Some patients in their 3rd decade had no or minimal dysfunction, whereas others in their 2nd decade had very severe dysfunction. Therefore, 4 severity groups were defined ranging from no or mild LV dysfunction to severe LV dysfunction using patient age at first abnormal echocardiographic finding and degree of LV dysfunction. Genetic data were collected for all patients. Most patients had mutations from exon 1 to 20 to exon 41 to 55. The distribution of the 4 severity groups of LV dysfunction did not significantly differ between these 2 mutation groups. An analysis based on the number of exons involved (<5 vs ≥5 exons) also found no significant difference in cardiac severity. When patients having identical mutations were compared with their cardiac course, concordance was often not evident. Steroid therapy had no apparent protection for the development of cardiomyopathy. In conclusion, 75 patients with DMD showed marked variability in the severity of LV dysfunction. Neither the age of onset nor the severity of cardiomyopathy correlated with any of the mutation groups., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Objectives: To present the first series of patients with Duchenne muscular dystrophy (DMD) and nephrolithiasis., Methods: A retrospective chart review was done to identify patients with DMD who were referred for urologic consultation because of nephrolithiasis from June 2004 to April 2006., Results: Four patients were identified with DMD and nephrolithiasis. Of the 4 patients, 2 underwent treatment, and their stones were obtained for analysis. The other 2 patients had stones diagnosed by computed tomography. Their stones were passed but not retrieved. Stone analysis for the available patients revealed a mixed calcareous composition. All 4 patients had had a relatively small stone burden. The patients ranged in age from 18 to 31 years., Conclusions: Stone disease appears to have many of the same characteristics in patients with DMD as it does in the general population. Risk factors, including immobilization and corticosteroid use, are present. Additional studies are needed before conclusions can be made regarding the associations between DMD and nephrolithiasis.

Doppler tissue velocities (DTV) are abnormal in a variety of cardiac conditions when standard measures of ventricular function are normal. Detection of left ventricular dysfunction in Duchenne's muscular dystrophy (DMD) has relied on 2-dimensional imaging yet often these images are suboptimal. This study was undertaken to determine if DTV and the myocardial performance index (MPI) could provide additional diagnostic information in DMD. We determined in 31 patients and 13 age-matched control subjects the prevalence of both abnormal DTV of the mitral annulus and abnormal MPI. Mean values for early diastolic DTV were significantly lower for patients compared with control subjects (P < .001) and were abnormally low in 86% of patients. The MPI was abnormal in 79% of patients. All but one patient with DMD had either abnormal DTV or abnormal MPI yet 19% had normal fractional shortening. DTV and MPI are important additions to the echocardiographic evaluation of patients with DMD.

To determine long-term outcome of children with inapparent congenital cytomegalovirus infection, an assessment of congenitally infected children observed since birth was undertaken. Children with early postnatal acquisition of CMV infection were also evaluated. Cognitive, behavioral, neurologic, audiometric, and speech and language evaluations were performed in 48 patients, including 17 congenitally infected children, 10 children with postnatal infection, and 21 uninfected control subjects. Mean IQ of the three groups of children did not differ significantly. Behavioral, neurologic, speech and language examinations similarly failed to distinguish differences among the three groups. Audiologic abnormalities were present in four congenitally infected children, including one child with a severe unilateral sensorineural loss; in none of the children was hearing loss functionally significant. No hearing abnormalities were detected in postnatally infected children. Although inapparent CMV infection can result in audiologic sequelae, the continued lack of cognitive, behavioral, and neurologic sequelae in these school-age children reemphasizes the need to focus attention on prevention of primary maternal CMV infection to avoid the potentially devastating effects of intrauterine CMV infection.

Median palmar digital neuropathy developed in a 16-year-old girl as a result of chronic trauma to the palm during cheerleading activities. The clinical findings on examination, which included paresthesias in the distribution of a palmar digital nerve and exacerbation of symptoms with compression of the palm, were consistent with this diagnosis. Nerve conduction studies documented a lesion of the median palmar digital nerve. Avoidance of cheerleading activities resulted in nearly total resolution of the symptoms. Awareness of this entity and the value of nerve conduction studies in establishing the diagnosis may avoid confusion and facilitate correct diagnosis and management.

In a prospective study of 3,253 pregnant adolescents, 1,404 were seronegative for cytomegalovirus (CMV). Specimen collection at each antenatal visit, including urine for viral culture and serum for complement-fixing antibody, allowed definition of primary CMV infection in 14 subjects (1%). Seven of 14 subjects delivered congenitally infected infants, including 5/7 subjects with third trimester infections, and 2/5 subjects with second trimester infections. The single mother with a first trimester infection delivered an uninfected infant, despite recurrent maternal viremia. The mean birth weight of congenitally infected infants did not differ significantly from the mean birth weight of uninfected infants. None of the infants had stigmata of cytomegalic inclusion disease. One infected infant died suddenly at 6 weeks of age from pneumonia. Follow-up examinations of the six living children failed to detect cognitive, behavioral, or audiologic sequelae. These data demonstrate that primary maternal CMV infection occurs in 1% of susceptible women and is associated with a 50% risk of intrauterine infection. Fetal infection, particularly if it occurs late in pregnancy, is not invariably accompanied by fetal damage.

Tow infants had bilateral congenital subdural cysts associated with encephaloclastic porencephaly and a CSF-subdural fistula. The cysts occupied 80% to 90% of the crainal cavity. There was severe atrophy and malformation of the underlying brain, suggesting that its development had been disturbed at an early stage of gestation. The clinical and radiologic findings were indistinguishable from those of hydranencephaly.

A new CT pattern was observed in 2 patients with adrenoleukodystrophy (ALD). This pattern, which the authors call Type II, is characterized by the absence of posterior periventricular areas of decreased attenuation around the trigone on non-contrast scans: after contrast infusion, however, there is striking enhancement of various white-matter structures (tracts or fiber systems) such as the internal capsules, corpus callosum, corona radiata, forceps major, and cerebral peduncles. This is different from numerous previous descriptions of the CT pattern in ALD. Type II ALD does not appear to have been seen in any other leukoencephalopathy and is probably specific for a phenotypic variant or an evolving stage of ALD.