Neurological Manifestations in Parry-Romberg Syndrome: 2 Case Reports.

Parry-Romberg syndrome (PRS) is a variant of morphea usually characterized by a slowly progressive course. Clinical and radiological involvement of the central nervous system may be observed in PRS. We describe 2 patients with PRS and neurological symptoms (one with trigeminal neuralgia associated with deafness, and the second with hemifacial pain associated with migraine without aura) in conjunction with abnormal cerebral MRI including white matter T2 hyperintensities and enhancement with gadolinium. Despite the absence of specific immunosuppressive treatments, both patients have presented stable imaging during follow-up without any clinical neurologic progression. We have performed a large review of the medical literature on patients with PRS and neurological involvement (total of 129 patients). Central nervous system involvement is frequent among PRS patients and is inconsistently associated with clinical abnormalities. These various neurological manifestations include seizures, headaches, movement disorders, neuropsychological symptoms, and focal symptoms. Cerebral MRI may reveal frequent abnormalities, which can be bilateral or more often homolateral to the skin lesions, localized or so widespread so as to involve the whole hemisphere: T2 hyperintensities, mostly in the subcortical white matter, gadolinium enhancement, brain atrophy, and calcifications. These radiological lesions do not usually progress over time. Steroids or immunosuppressive treatments are controversial since it remains unclear to what extent they are beneficial and there is often no neurological progression.

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration.

TDP-43 (TAR-DNA binding protein) aggregates in neuronal inclusions in motoneuron disease (MND), as well as in frontotemporal lobar degeneration (FTLD) and FTLD associated with MND (FTLD-MND). Mutations in TARDBP gene, coding for TDP-43, were found in patients with pure MND. We now describe TARDBP mutations in two patients with FTLD-MND, presenting with a behavioral variant of FTLD and semantic dementia, suggesting that TDP-43 may also have a direct pathogenic role in FTLD disorders.

Spirometer-dependence of vital capacity in ALS: validation of a portable device in 52 patients.

Since the evaluation of vital capacity (VC) needs to be carried out every three months in patients with amyotrophic lateral sclerosis (ALS), a portable spirometer would be of value in clinical practice. Over the follow-up of 52 ALS patients, we compared the values of slow vital capacity measured by two spirometers: a reference flow-metered spirometer based on a Hans-Rudolph pneumotachograph and a portable Venturi spirometer. The objectives were to analyse the overall concordance of the measurements from the two devices and determine a discordance cut-off. The correlation between measurements was high (r = 0.936) and significant (p<10(-20)). Bland and Altman analysis showed that the measurements were concordant at a statistical risk of 5%; nevertheless, on examination of the raw differences between the measurements, two sub-populations could be identified on either side of the 56% cut-off where the means of the differences were significantly different (p<0.0001). The 56% cut-off was also statistically significant in plotting differences against the coefficient of variations of the data pairs expressed as (100 x s/mean). The differences observed between the two spirometers could be explained by technical differences between the devices as well as by an increase in variability with progression of the disease. In conclusion, this study demonstrates that a portable spirometer can be used reliably at the bedside. For values of vital capacity below the discordance cut-off of 56%, vital capacity should be determined by operators trained in pulmonary function examinations.

Hypermetabolism in ALS: correlations with clinical and paraclinical parameters.

Despite a reduction in fat-free mass (FFM), a hypermetabolism has been reported with an average of 10% in amyotrophic lateral sclerosis (ALS) patients as compared with a healthy population. The objectives of this study were to confirm the level of hypermetabolism determined by using indirect calorimetry in 168 patients with a probable or a definite ALS and to study correlations with survival. Consecutive evaluations of resting energy expenditure (REE) were performed from diagnosis to the proximity of death in 44 ALS patients. Differences with the calculated value determined a DeltaREE. FFM was given by bioimpedance. At T(1), REE was significantly increased by an average of 14% as compared with the calculated value. 62.3% of ALS patients were considered as hypermetabolic. REE was correlated in univariate analysis with age, sex, clinical form at onset, presence of a denutrition, weight, FFM, phase angle and ALS Functional Rating Scale (ALSFRS). In multivariate analysis, REE was linked to age and FFM. DeltaREE was correlated in univariate analysis with sex, phase angle and manual muscle testing (MMT). In multivariate analysis, age and sex remained significantly correlated. During progression of ALS, REE levels remained higher than calculated values with a trend to decrease at proximity of death, whereas FFM remained stable. From T(1), survival was linked to MMT, ALSFRS, vital capacity, REE and phase angle. We confirmed the existence of a stable hypermetabolic state in ALS which depends mainly on age, sex and FFM. REE is a prognostic factor for survival in univariate analysis.