Congenital glaucoma and Silver-Russell phenotype associated with partial trisomy 7q and monosomy 15q.

We report on a 28-year-old man with trisomy 7q34-qter and monosomy 15q26.3-qter caused by a paternal balanced chromosomal translocation, t(7;15)(q34;q26.3).

[A pedigree of autosomal dominant limb-girdle myopathy with rimmed vacuole formation].

We describe a kindred with autosomal dominant myopathy with preferential proximal limb muscle involvement. This disorder is characterized clinically by early adult onset, slow progression, normal life expectancy, weakness and atrophy of proximal limb muscles, especially in the lower limbs. Laboratory examinations showed myopathic changes mixed with neuropathic components on needle electromyography, slight elevation of serum creatine kinase, and absent cardiac involvement.

Reducing bodies in distal myopathy with rimmed vacuole formation.

A 42-year-old woman with distal myopathy with rimmed vacuoles had intracytoplasmic inclusion bodies similar to those described in reducing body myopathy. Since these inclusions were found in fibers with high acid phosphatase activity and occasional rimmed vacuoles, their formation appeared to correlate with active myofibrillar degeneration, but their origin remains unknown.

[MRI of paraventricular white matter lesions in amyotrophic lateral sclerosis--analysis by diffusion-weighted images].

Magnetic resonance images in some cases of amyotrophic lateral sclerosis (ALS) revealed abnormal signals in both the paraventricular white matter and in the posterior limbs of the internal capsule. We examined T2- and diffusion-weighted MR images of these lesions in 18 cases of ALS. There were symmetrical high-signal areas in the posterior limbs of the internal capsule in all of the cases.

[Diffusion anisotropy in cerebral white matter lesion].

Diffusion MRI studies were performed on 14 patients with diffuse high-signal lesions of the cerebral white matter on T2-weighted MR images. There were two patients with adrenoleukodystrophy, four with dentato-rubro-pallido-luysian atrophy, three with familial spastic paraplegia, two with myotonic dystrophy and three with dementia of unknown origin. In addition, a patient with of Sanfilippo disease and one of the three patients who exhibited dementia of unknown origin were also found to be low-signal in the cerebral cortex T2-weighted MR images.

[FLAIR images of brain diseases].

FLAIR (fluid-attenuated inversion recovery) images are MR images obtained with an inversion recovery sequence having a long inversion time (TI) and a long echo time (TE). Twenty healthy adults and twenty patients with multiple cerebral infarction, multiple sclerosis, temporal epilepsy, or brain trauma were examined with FLAIR sequences of several types having repetitive times (TR) of 4000-8000 msec, inversion times of 1200-2400 msec and echo times (TE) of 140-200 msec, and the results were compared with spin-echo sequences (TE = 20 msec and TE = 90 msec). With a long repetitive time of 6000 msec and a long inversion time of 1400-1600 msec, the cerebrospinal fluid signals in the lateral ventricles and the cerebral sulci were low-intensity with brain tissue appearing as high signal intensity areas with good T2 contrast.

Hereditary distal dominant amyotrophy followed by spastic paraplegia.

Clinical, neurophysiological and neuropathological investigations were performed on five patients from two families with autosomal dominant distal amyotrophy followed by spastic paraplegia and with a positive history in two generations of these two families. All cases in the two families had a benign clinical course, although two mothers could not walk without support at around 60 years old. Neurophysiological studies revealed normal maximum conduction velocities of peripheral sensory and motor nerves, and the central spinal sensory pathway.

[Study of diffusion weighted magnetic resonance imaging in Wilson's disease].

We analyzed diffusion weighted magnetic resonance images (diffusion MRI) of the basal ganglia, which were obtained from four patients with Wilson's disease, and compared them with the images from ten age-matched normal individuals. In all patients, T2-MRI of the basal ganglia disclosed low or iso-signals, but diffusion MRI revealed abnormal high signals in some areas of the basal ganglia in each case. Pathological changes except for copper and/or iron deposits are difficult to estimate by T2-MRI because the low signal on T2-MRI emphatically reflects the deposits, while the abnormal high signal on diffusion MRI is thought to reflect parenchymal lesions such as cell loss, demyelination and/or increase of the extracellular fluid.

[Diffusion weighted magnetic resonance imaging in multiple cerebral infarction].

Serial examination of magnetic resonance images (MRI) for two months were carried out on two cases of multiple cerebral infarction during the acute stage. The T2-weighted MR images at the onset of the infarction showed both acute (new) and chronic (old) lesions appearing as high signal area. While on the diffusion weighted images only an acute lesion was detected as a high signal area with good contrast.

[A case with pyramidal tract lesion suggesting Wallerian degeneration--analysis with diffusion coefficient].

We reported a 55-year-old man, whose T2-weighted MR images disclosed abnormal high signal band along the left pyramidal tract 6 months after cerebral infarction of the left centrum semiovale. Brain CT revealed low intensity areas in the centrum semiovale, the posterior limb of the internal capsule on left side. On T2-weighted MR images, there were an irregular high signal area on the left centrum semiovale, a high signal band from the left centrum semiovale to the medullary pyramid, and a high signal band from the left centrum semiovale to the cerebral cortex.