A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract.

Hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) is a rare disease, characterized by both central and peripheral hypomyelination. We describe a 21-year-old male with mildly progressive ataxia, mental retardation, pituitary hypogonadotropic hypogonadism, delayed dentition, and cataract. Brain magnetic resonance imaging showed hypomyelinated white matter, cerebellar atrophy, and a thin corpus callosum. The literature suggests that abnormal findings upon sural nerve biopsy may indicate peripheral hypomyelination, even in the absence of clinically and physiologically evident peripheral neuropathy. A sural nerve biopsy of this patient was normal, and this finding is further discussed. Taken together with previous reports, this case suggests that 4H syndrome can be regarded as a spectrum disorder, the cardinal signs of which may be central hypomyelination, ataxia, hypogonadotropic hypogonadism, and hypodontia.

Heart rate variability and hypercapnia in Duchenne muscular dystrophy.

OBJECTIVE: To investigate the relationship between heart rate variability and hypercapnia. PATIENTS AND METHODS: We measured the coefficient of variation of R-R interval (CVrr) and arterial blood gas pressures in 73 patients with Duchenne muscular dystrophy. RESULTS: CVrr was negatively correlated with arterial partial pressure of carbon dioxide (PaCO(2)). In patients whose CVrr was larger than 5%, 84% of them had no hypercapnia while the other 16% had hypercapnia (PaCO(2) >45 mmHg). In contrast, 27% of those with CVrr smaller than 3% had no hypercapnia, 73% had hypercapnia and 47% had severe hypercapnia (PaCO(2) >50 mmHg). CONCLUSION: We first showed that CVrr was negatively correlated with PaCO(2), and propose that abnormally low CVrr indicates respiratory insufficiency in patients with Duchenne muscular dystrophy.

Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT.

We report an 18-year-old man with elevation of the creatine kinase (CK) level to 11,068 IU/L. There was no muscle atrophy or fat replacement on CT while muscles in the posterior compartment of lower legs showed high T2 signal intensity on MRI. We performed muscle biopsy from the gastrocnemius muscle. Immunohistochemical analysis demonstrated an absence of dysferlin leading to a diagnosis of preclinical dysferlinopathy. Typical distribution of muscle involvement was demonstrated not by CT but by MRI which may have contributed to facilitating diagnosing the earliest stage of preclinical dysferlinopathy, presenting with asymptomatic elevation of serum creatine kinase.

Trans-arterial infusion chemotherapy for recurrence of pleural dissemination after thymectomy.

We present a report of trans-arterial infusion chemotherapy through the intercostal arteries and subphrenic artery for pleural dissemination of recurrent thymoma after thymectomy. The disseminated tumor did not enlarge for more than a year after this treatment, and there were no side effects. Trans-arterial infusion chemotherapy appears to be a preferable procedure for pleural dissemination of thymoma.