Spinal cord anomalies in patients with anorectal malformations without severe sacral abnormalities or meningomyelocele: outcomes after expectant, conservative management.

OBJECTIVE The goal of this study was to determine the significance of spinal cord anomalies (SCAs) in patients with anorectal malformations (ARMs) by comparing the outcomes for bowel function, lower urinary tract symptoms (LUTS), and lower-limb neurological abnormalities to these outcomes in patients with similar ARMs and a normal spinal cord. METHODS The spinal cord MRI records of female patients treated for vestibular and perineal fistula (VF/PF) and male patients with rectourethral fistula (RUF) at a single center between 1983 and 2006 were reviewed. Bowel function and LUTS were assessed by questionnaire. Patients with extensive sacral anomalies or meningomyelocele were excluded. RESULTS Of 89 patients (median age 15 years, range 5-29 years), MRI was available in 90% (n = 80; 40 male patients with RUF), and 80% of patients returned the questionnaire (n = 64; 31 male patients with RUF). Spinal cord anomalies were found in 34%, comprising a filum terminale lipoma in 30%, low conus medullaris in 10%, and thoracolumbar syrinx in 6%. Bowel functional outcomes between patients with SCAs (n = 23) and those with a normal spinal cord (n = 41) were not significantly different for soiling (70% vs 63%), fecal accidents (43% vs 34%), and constipation (57% vs 39%; p = not significant for all). The LUTS, including urge (65% vs 54%), urge incontinence (39% vs 24%), stress incontinence (17% vs 22%), and straining (32% vs 29%) were also comparable between groups (p = not significant for all). No patients developed lower-limb neurological abnormalities. CONCLUSIONS The results suggest that the long-term functional outcomes for patients with SCAs who had VF/PF and RUF may not differ significantly from patients with the same type of ARMs and a normal spinal cord. The results favor a conservative approach to their management in the absence of abnormal neurological findings in the lower limbs.

Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture.

Cortical development is a complex process where a multitude of factors, including cadherins, plays an important role and where disruptions are known to have far reaching effects in neural development and cortical patterning. Cadherins play a central role in structural left-right differentiation during brain and body development, but their effect on a functional level remains elusive. We addressed this question by examining functional cerebral asymmetries in a patient with Van Maldergem Syndrome (VMS) (MIM#601390), which is caused by mutations in DCHS1-FAT4 cadherins, using a dichotic listening task. Using neurophysiological (EEG) data, we show that when key regulators during mammalian cerebral cortical development are disrupted due to DCHS1-FAT4 mutations, functional cerebral asymmetries are stronger. Basic perceptual processing of biaurally presented auditory stimuli was unaffected. This suggests that the strength and emergence of functional cerebral asymmetries is a direct function of proliferation and differentiation of neuronal stem cells. Moreover, these results support the recent assumption that the molecular mechanisms establishing early left-right differentiation are an important factor in the ontogenesis of functional lateralization.

Ulerythema ophryogenes: updates and insights.

Ulerythema ophryogenes is a rare cutaneous atrophic disorder that occasionally is associated with Noonan syndrome, de Lange syndrome, Rubinstein-Taybi syndrome, and cardiofaciocutaneous (CFC) syndrome. Often presenting in pediatric patients, the pathogenesis of ulerythema ophryogenes remains unclear, though several genetic causes have been suggested. Treatment recommendations remain anecdotal, but clearance has been noted as the patient ages. Although topical agents have been the mainstay of therapy, recent advancement in laser intervention for treatment of ulerythema ophryogenes is promising.

Perfusion imaging in Pusher syndrome to investigate the neural substrates involved in controlling upright body position.

Brain damage may induce a dysfunction of upright body position termed "pusher syndrome". Patients with such disorder suffer from an alteration of their sense of body verticality. They experience their body as oriented upright when actually tilted nearly 20 degrees to the ipsilesional side. Pusher syndrome typically is associated with posterior thalamic stroke; less frequently with extra-thalamic lesions. This argued for a fundamental role of these structures in our control of upright body posture. Here we investigated whether such patients may show additional functional or metabolic abnormalities outside the areas of brain lesion. We investigated 19 stroke patients with thalamic or with extra-thalamic lesions showing versus not showing misperception of body orientation. We measured fluid-attenuated inversion-recovery (FLAIR) imaging, diffusion-weighted imaging (DWI), and perfusion-weighted imaging (PWI). This allowed us to determine the structural damage as well as to identify the malperfused but structural intact tissue. Pusher patients with thalamic lesions did not show dysfunctional brain areas in addition to the ones found to be structurally damaged. In the pusher patients with extra-thalamic lesions, the thalamus was neither structurally damaged nor malperfused. Rather, these patients showed small regions of abnormal perfusion in the structurally intact inferior frontal gyrus, middle temporal gyrus, inferior parietal lobule, and parietal white matter. The results indicate that these extra-thalamic brain areas contribute to the network controlling upright body posture. The data also suggest that damage of the neural tissue in the posterior thalamus itself rather than additional malperfusion in distant cortical areas is associated with pusher syndrome. Hence, it seems as if the normal functioning of both extra-thalamic as well as posterior thalamic structures is integral to perceiving gravity and controlling upright body orientation in humans.

Entrenamiento muscular en paciente traqueostomizado: a propósito de un caso / Respiratory muscle training in tracheostomized patient: a case report

Se presenta el caso de una niña de 14 años portadora de Síndrome de Escobar, trastorno congénito caracterizado por alteraciones musculoesqueléticas, entre ellas escoliosis, que determinan una alteración ventilatoria restrictiva, similar a la presentada por pacientes neuromusculares. La Paciente está traqueostomizada con soporte ventilatorio en su domicilio. Se plantea un programa de Rehabilitación Respiratoria con Entrenamiento Físico general y de la musculatura específica inspiratoria. Este entrenamiento específico es realizado con una válvula Threshold IMT® con una carga de un 30 por ciento de la fuerza generada, medida a través de la Presión Inspiratoria Máxima. En un corto período presentó una mejoría significativa de su valor basal en un 42 por ciento. Es interesante destacar la factibilidad de entrenar pacientes con traqueostomía.

[Inversion of the circadian melatonin rhythm in Smith-Magenis syndrome]. / Inversion du rythme circadien de la mélatonine dans le syndrome de Smith-Magenis.

Smith-Magenis syndrome (SMS) is a genetic disease ascribed to an interstitial deletion on chromosome 17 (del 17p11); the prevalence is 1/25,000 births. The diagnosis is made on high-resolution karyotype confirmed by FISH. Clinical features include mild dysmorphism, short stature, other malformations (heart, renal, neurologic diseases). Mental retardation is constant; there are major behavioral disturbances and severe sleep disorders. We studied sleep disorders and melatonin secretion in SMS children and we have shown inversion of the circadian rhythm of melatonin, abnormally secreted during the day. This is the first biological model of behavioral and sleep disorder in a genetic disease. Therapeutic approach using beta-blockers in the morning and melatonin in the evening, reset circadian rhythm of melatonin, improve behavior and restore sleep.

The evolution of neurophysiological features in holoprosencephaly.

The evolution of EEG, visual and auditory evoked responses (VER and AER) and sleep is described in three cases of semilobar holoprosencephaly. During the neonatal period, the waking EEG was characterized by almost continuous high amplitude rhythmic alpha-theta activity in case 1 and 2, which became discontinuous during quiet sleep. Moderate amplitude rhythmic alpha-theta waves were seen in case 3. This rhythmic alpha-theta activity gradually disappeared with increasing age, being replaced by non-specific slow dysrhythmia. In case 3, the subsequent EEGs were characterized by focal spikes at 4 months, multifocal spikes at 5 and 6 months, hypsarrhythmia at 8 months and bisynchronous diffuse sharp and slow wave discharges at 2 years and 7 months. Ictal EEGs were characterized by desynchronization and/or rapid synchronization, epileptic recruiting rhythm and postical high amplitude slow waves. Definite but mostly abnormal VERs or AERs were obtained in all three cases. In two cases, the evoked responses showed a progressive decrease in amplitude and VERs were abolished finally. No sleep cycle could be identified during the neonatal period probably because of frequent seizures. In two cases no circadian rhythm of sleep developed, although almost normal REM-NREM sleep cycle was present.