In utero diagnosis of PHACE syndrome by fetal magnetic resonance imaging (MRI).

The acronym PHACE describes the association of facial hemangioma with anomalies of the posterior fossa, cerebral arteries, and cardiovascular and ocular alterations. This study presents a case of diagnostic suspicion based on fetal MRI. We report the case of a pregnant woman whose 26-week MRI revealed a female fetus with hypoplasia of the right cerebellar hemisphere and right microphthalmia, leading to the suspicion of PHACE syndrome. The diagnosis was confirmed at birth, together with other criteria: facial hemangioma, absent posterior inferior cerebellar artery, and dysplasia of the right internal carotid artery. To our knowledge, this is the first live case described prenatally with both ocular and cerebellar findings on fetal MRI that suggest PHACE syndrome. The prenatal presence of 2 PHACE criteria led to the suspicion of this syndrome, and prenatal diagnostic criteria might be developed to improve information regarding the prognosis of cerebellar malformations.

[Autism and attention deficit hyperactivity disorder: pharmacological intervention]. / Autismo y trastorno por déficit de atención/hiperactividad: intervención farmacológica.

The cardinal symptoms of attention deficit hyperactivity disorder (ADHD)--inattention, hyperactivity and impulsiveness--are not specific and may be found in the general population and in other disorders. These symptoms are present in over 50% of patients with autism spectrum disorders (ASD). It thus seems quite clear that both problems can coexist in these patients. The usual pharmacological treatments for ADHD, methylphenidate and atomoxetine, appear to be useful in reducing the above-mentioned symptoms in patients with ADHD and ASD. Effectiveness seems to be lower in patients with ASD and tolerance is slightly poorer. This may be conditioned by a number of variables, including: the complexity of ASD, association with mental retardation, polypharmacotherapy, and so on. Given the long-term tolerance profile of methylphenidate and atomoxetine, these treatments appear to be a good alternative with which to improve the problems of attention and self-control these patients have. Nevertheless, further controlled studies are needed to confirm this proposition.

TITLE: Autismo y trastorno por deficit de atencion/hiperactividad: intervencion farmacologica.Los sintomas cardinales del trastorno por deficit de atencion/hiperactividad (TDAH), la inatencion, la hiperactividad y la impulsividad, no son especificos y pueden encontrarse en la poblacion general y en otros trastornos. Estos sintomas se encuentran presentes en mas del 50% de los pacientes con trastornos del espectro autista (TEA). Parece clara, por tanto, la coexistencia de ambos problemas en estos pacientes. Los tratamientos farmacologicos habituales para el TDAH, el metilfenidato y la atomoxetina, parecen ser utiles en la reduccion de los sintomas senalados en pacientes con TDAH y TEA. La eficacia en los pacientes con TEA parece ser inferior, y la tolerancia, levemente peor. Esto puede estar condicionado por numerosas variables: complejidad del TEA, asociacion con el retraso mental, polifarmacoterapia... Dado el perfil de tolerancia a largo plazo del metilfenidato y la atomoxetina, estos tratamientos se muestran como una buena alternativa para la mejora de los problemas atencionales y autocontrol de estos pacientes; sin embargo, son necesarios mas estudios controlados para afirmar esta propuesta.

Schizencephaly: pre- and postnatal magnetic resonance imaging.

Schizencephaly is a rare disorder of neuronal migration that is characterized by the presence of clefts that extend from the ependymal surface of the lateral ventricles to the pial lining of the cortex. The authors present the case of a female patient with a prenatal diagnosis made by magnetic resonance imaging (MRI), her clinical course, and neurorradiological evolution following birth. A 6-year-old female, with right open lip schizencephaly, was diagnosed by means of prenatal cerebral magnetic resonance at the gestational age of 25 weeks. The patient does not present intellectual disability, reaching developmental mile-stones at normal time points. The MRI of the brain reveals right, perisylvian, closed lip schizencephaly. Prenatal MRI is remarkably useful in the diagnosis and prognostic approach to the condition. It is less useful in classifying the unilateral forms (open vs closed lips), and hence, its prognostic validity is more limited.

Gomez-Lopez-Hernandez syndrome: two new cases and review of the literature.

Gomez-Lopez-Hernandez syndrome, or cerebellotrigeminal-dermal dysplasia, is a rare neurocutaneous syndrome of trigeminal anesthesia, scalp alopecia and cerebellar anomalies. Other features include craniosynostosis, short stature, hypertelorism, down-slanting palpebral fissures, corneal opacities, mediofacial hypoplasia, and turri-brachycephaly. There have been 19 cases documented to date and we report on two additional male patients, 1 and 6 years of age, with typical features, mild mental retardation and dyspraxia. In both cases, MRI findings included rhombencephalosynapsis, a constant neuroimaging feature in this syndrome, comprising fusion of the cerebellar hemispheres with agenesis of the cerebellar vermis. Based on literature and our experience, we propose the presence of trigeminal anesthesia and/or partial alopecia of the scalp to complete the diagnosis of the syndrome.