Facial hemangioma and malformation of the cortical development: a broadening of the PHACE spectrum or a new entity?

Facial hemangioma is usually isolated but its association with craniocervical arterial anomalies and structural brain malformations is well known. The acronym PHACE syndrome (posterior fossa malformation, facial hemangiomas, arterial anomalies, cardiac/aortic anomalies, and eye abnormalities) has been used to indicate that disorder in which brain anomalies are mainly represented by the Dandy-Walker malformation. We report on a 10-month-old boy affected by facial hemangioma and a complex cortical dysplasia located in the left frontal region. The lesion was characterized by a deeply infolding pachygyric cortex and a band of gray matter lining the wall of the lateral ventricle. The entire left cerebral hemisphere appeared hypoplastic. No anomalies of the posterior fossa structures or cardiac/aortic malformations were present. An overlapping clinical/pathological pattern was previously reported in another patient with facial hemangioma and cerebrovascular anomalies. These observations seem to indicate that the facial hemangiomas may be associated with disorders of the cortical development.

[Prospective national survey on alternatives to obstetrical peridural analgesia]. / Enquête nationale prospective sur les alternatives à l'analgésie péridurale obstétricale.

OBJECTIVE: To assess the type of an alternative technique for epidural analgesia for pain relief during labour, the reason of its choice and its efficiency. STUDY DESIGN: A one-year prospective survey in 34 french hospitals. MATERIAL AND METHODS: A questionnaire was filled for each request for a non-epidural technique during labour. The data recorded the reason for this non-epidural method, the technique used, the repeated visual analog scale (VAS) pain scores before (T0) and during the treatment (T30, T60 T120,...), the maternal and foetal side effects of the method, and the maternal satisfaction. RESULTS: 177 questionnaires were studied among the 270 collected. The lack of VAS measurements was the main reason for excluding questionnaires. Refusing the epidural by the obstetric patient was the most frequent reason for requesting a non-epidural method (39%). Five non-epidural methods were identified: nalbuphine (NAL, n = 75), sufentanil by patient-controlled analgesia (SUF, n = 44), nitrous oxide/oxygen inhalation (N2O, n = 22), pethidine (PET, n = 19), and spinal analgesia (SA, n = 17). The choice of the method was dependant on the prescribe (midwife or anaesthetist) and of the cervical dilation. The SA group exhibited the most pain relief compared to the other groups during the treatment. No difference in pain relief was noted between the 4 groups (SUF, NAL, PET, N2O). Only in the PET group did the VAS pain score remain unchanged at T30. There were 25 maternal side effects, with a significant maternal sedation in the NAL group, and pruritus in the SA group. There were 6 respiratory depressions in infants, unrelated with the analgesic method. Maternal satisfaction was higher in the SA, SUF and N2O groups than in the PET and NAL groups. Factors explaining lack of analgesic effect (i.e. no decrease in VAS pain score more than 10 mm during the treatment) were the use of pethidine, the VAS pain score at T0 and the induced labour. CONCLUSION: Epidural and spinal analgesia are the most efficient methods for pain relief during labour. The analgesic effect of non-regional methods during labour is minimal, associated with some maternal side effects. Due to its lack of analgesic effect, pethidine should be avoided in this indication.

Preserved speech variant is allelic of classic Rett syndrome.

Rett syndrome is a neurological disorder affecting predominantly females with regression loss of speech and purposeful hand use, after a few months of almost normal development. Postnatal microcephaly, hand dispraxia, stereotypic 'hand-washing' activities, ataxia, and abnormal breathing are among its most characteristic features. Another aspect of this disorder is growth failure. The preserved speech variant (PSV) shares with Rett syndrome the same course and the stereotypic hand-washing activities but it differs in that patients typically recover some degree of speech and hand use and usually do not show growth failure. Progressive scoliosis, epilepsy and other minor handicaps, usually present in Rett syndrome, are rare in the preserved speech variant. Here we explore the spectrum of mutations affecting the MECP2 gene in a group of 25 classic Rett syndrome girls and in three patients with the preserved speech variant. Among the Rett syndrome group, two novel mutational hot spots (R270X and R294X), four novel mutations, two novel small deletions, as well as the previously reported 806delG, R168X and R255X mutations, were identified in 20/25 patients. Of note, among the preserved speech variants, two patients carry deletions of 41 bp and 44 bp each, which are strikingly similar to those observed in classic Rett syndrome. Our results confirm the presence of mutational hot spots in MECP2, broaden the spectrum of mutations, pinpoint additional mutational hot spots and establish that the preserved speech variant is indeed allelic of the classic form. Phenotype variability is only partially dependent on the kind of MECP2 mutation and other mechanisms such as skewed X-inactivation, and/or modifier gene effects should be investigated to explain the variable recovery in speech and hand use.

Upbeat nystagmus as an early sign of cerebellar astrocytoma.

A boy with a left-hemispheric cerebellar astrocytoma had upbeat nystagmus exhibiting increasing-velocity slow phases. The nystagmus improved after excision of the tumour.