No abstract

The authors propose calling this neuropathy "multifocal inflammatory demyelinating neuropathy" and considering it as a distinct clinical entity to facilitate early diagnosis of this treatable disorder.

We studied whether magnetic resonance (MR) imaging of the brachial plexus is useful to distinguish multifocal motor neuropathy (MMN) from lower motor neuron disease (LMND) and whether abnormalities resemble those of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). We compared MR images of the brachial plexus of nine patients with MMN with scans from five patients with CIDP, eight patients with LMND, and 174 controls. In two patients with MMN, and in three patients with CIDP, the MR images showed an increased signal intensity on the T2-weighted images of the brachial plexus. Two other patients with MMN demonstrated a more focal, increased signal intensity on the T2-weighted images, occurring in one patient only in the axilla, and in the other patient in the axilla and in the ventral rami of the roots. MR images of the brachial plexus of eight patients with LMND were normal. The distribution of the MR imaging abnormalities corresponded with the distribution of symptoms of the patients: asymmetrical in MMN and symmetrical in CIDP. These findings demonstrate that MR imaging abnormalities of the brachial plexus in patients with MMN resemble those seen in CIDP and may be useful to distinguish MMN from LMND.

ABSTRACT. The purpose of this study was to test the hypothesis that a high lactate signal and a low N-acetylaspartatelcholine ratio in neonates with postasphyxial encephalopathy indicated a high chance of an adverse outcome in vivo when proton magnetic resonance spectroscopy was used. Twenty-one full-term asphyxiated neonates were examined at a mean postnatal age of 7.1 d. Five patients died, and five survivors had handicaps. Eleven of the 16 survivors (seven without handicaps and four with handicaps) had a second examination at 3 mo of age. After magnetic resonance imaging, spectra were obtained at 1.5 tesla. A 20-mm-thick slice was selected through the basal ganglia. After optimizing the B-O field, we used a double spin-echo pulse sequence (90-180-180") with a time to repeat of 2000 ms and a time to echo of 272 ms. Twodimensional spectroscopic imaging was performed by 32 x 32 phase encoding steps in two directions in a 225-mm field of view, resulting in 1-mL volumes, followed by computerized processing. Neuromotor development was examined at 6 wk, 3 mo, and every 3 mo thereafter. Lactate resonances were seen only in the five patients with grade 3 postasphyxial encephalopathy. Lactate was distributed diffusely (n = 4), or localized in areas of infarction (n = 1). N-acetyl-aspartatelcholine ratios were significantly lower in the patients with an adverse outcome than in the survivors without handicaps, both neonatally ( p < 0.005, Wilcoxon's rank sum test) and at 3 mo ( p < 0.05). In conclusion, the presence of cerebral lactate and a low Nacetyl-aspartatelcholine ratio demonstrated in vivo using proton magnetic resonance spectroscopy in full-term neonates with postasphyxial encephalopathy indicate a poor outcome. (Pediatr Res 35: 148-151, 1994)

Objective: To report the presence of intracerebral hemorrhage and porencephaly, both present at birth, in two preterm infants with a mutation in the collagen 4 A1 gene. Methods: Two preterm infants with antenatal intracerebral hemorrhage and established porencephaly, as well as their affected mother and grandfather, underwent neurological and ophthalmological examination and magnetic resonance imaging of the brain. Mutation analysis of the COL4A1 gene was performed in the infants and in their mother. Results: Both infants had a novel G1580R mutation in the COL4A1 gene, encoding procollagen type IV ␣1. A history of mild antenatal trauma was present in the first but not in the second infant. Both preterm infants were asymptomatic at birth. The intracerebral hemorrhage and porencephaly were diagnosed with cranial ultrasound examination and were subsequently confirmed with magnetic resonance imaging. Leukoencephalopathy was present in the mother and in her father. Interpretation: Mutation of the COL4A1 gene appears to be a risk factor of antenatal intracerebral hemorrhage followed by porencephaly in the preterm newborn.