Subtelomeric deletion of 12p: Description of a third case and review.

Only 12 cases with a cytogenetically visible deletion of the short arm of chromosome 12 (12p) have been reported so far. The difference in clinical features observed in these patients indicates that there is no distinct phenotype associated with this short arm deletion, although the existence of a del(12p) syndrome was previously suggested. Besides those 12 reports, only two patients have been described with a subtelomeric 12p deletion; both present in the same family in which the son showed a mild phenotype of moderate mental retardation and behavioral problems and his carrier mother had no apparent phenotype. In this article, we describe the third known patient with a subtelomeric 12p deletion in a young boy with mental retardation and microcephaly, and review the literature.

Análisis estadístico del dermatoglifo en personas sanas y esquizofrénicas / Statistical analysis of dermatoglyphics in healthy and schizophrenic individuals

INTRODUCCION: Los dermatoglifos son características de la piel del extremo distal de los dedos, palmas de manos y plantas de pies, de algunos mamíferos, incluidos los seres humanos. Estarían determinadas por factores genéticos y ambientales, siendo marcadores de noxas en el ambiente prenatal. De esta manera, eventos que lleven a alteraciones en el sistema nervioso central y a patologías como la esquizofrenia, podrían verse reflejadas en los dermatoglifos. METODOS: con el fin de estudiar esta asociación, en el presente trabajo se analizó el patrón dermatoglífico de individuos sanos y luego se comparó con pacientes que padecen esquizofrenia y algún trastorno psiquiátrico distinto a ésta. RESULTADOS Y CONCLUSIONES: se evidenció que el sexo del individuo sería independiente tanto de las proporciones de las figuras encontradas como del recuento total de líneas digitales (RTLD). No se evidenció relación entre el RTLD y el padecer alguna patología psiquiátrica, sin embargo la distribución de las figuras fue igual para todos los dedos en los pacientes con trastornos psiquiátricos, en tanto que en la muestra de individuos sanos hubo claras diferencias: los arcos fueron más frecuentes en el dedo índice, las presillas en el meñique y los círculos en el dedo anular.

BACKGROUND: Dermatoglyphics are characteristics of the skin at the distal end of the fingers, palms and soles of the feet of some mammals, including humans. They are determined by genetic and environmental factors, being markers of noxa in the prenatal environment. In this way, events that lead to alterations in the central nervous system such as schizophrenia, could be reflected in the dermatoglyphic pattern. METHODS: in order to study this association, this paper analyzed the dermatoglyphic pattern of healthy individuals and then compared it with the pattern found in patients with schizophrenia and a psychiatric disorder other than this one. RESULTS AND CONCLUSIONS: we found no association between the proportions of the figures and the total finger rigde count (TFRC) and the sex of individuals. No relationship was evident between TFRC and suffering from psychiatric disorder. Figures distribute by chance in the different fingers in psychiatric patients, but not in healthy individuals, in these ones the arches are seen mainly in the index finger, loops in little finger and circles are seen mostly in ring finger.

[Response to prophylactic treatment of benign headache in children]. / Respuesta al tratamiento profiláctico de las cefaleas infantiles benignas.

INTRODUCTION: Common childhood headaches seldom require prophylactic treatment which, nevertheless, is quite often unsatisfactory. OBJECTIVE: To study drug and non-drug related factors that may influence the therapeutic response. MATERIAL AND METHODS: A four-month follow-up study of all patients attended during a year at the neuropediatric, outpatient hospital-based clinic, with > or = 2 monthly migraine without aura attacks, > or = 10 tension-type headaches, or both types of headaches. Patients were randomized to be treated on an open basis, placebo controlled, with flunarizine or piracetam. Headache frequency was evaluated according to treatment and patients' basal characteristics. RESULTS: 98 patients studied (56 migraine without aura, 24 tension-type headache, 18 mixed). 33% dropped out; they were school underachievers more frequently than those that completed the protocol. Of those completing the protocol and treated with placebo as the first choice of therapy, 27% reported total remission of symptomatology; those not remitting with placebo were high achievers at school significatively more frequently. At the end of the trial, 43% of the initially randomized patients still complained of headaches, regardless of treatment, showing a seasonal relationship. CONCLUSIONS: Prophylaxis of benign childhood headaches is needed in less than half of those reporting a high headache frequency; school achievement should be taken into consideration as another clue to compliance and headache persistence. On a short-term basis only the seasonal influence and the placebo effect can be held responsible for amelioration of symptomatology.

[Cerebral arterio-venous malformations in children under 10 years]. / Malformaciones arteriovenosas cerebrales en ninos menores de 10 anos.

INTRODUCTION: Arteriovascular malformations are anomalies of the embryonic development of cerebral vessels. They usually appear at between 10 and 30 years of age, being infrequent in infants. OBJECTIVE: Describe our experience of angiomas in small children. MATERIAL AND METHOD: The histories of all children under 10 years of age with the diagnosis of arteriovenous malformation admitted to our department between November 1984 and May 1995 were reviewed. RESULTS: Nine patients, aged between 3 months and 10 years; seven cases presented as intracranial haemorrhage, one with epileptic crises and another with general clumsiness and a hemicerebellar syndrome. The diagnosis was confirmed by angiography and/or study by the pathologist in all cases. Six patients were treated surgically and the other three by embolization. Of the latter, two also received radiosurgical treatment. The complications seen were; two children died, one during the acute phase and the other four years later as direct consequence of the haemorrhage. Six patients had residual neurological defects. One child had no complications. CONCLUSIONS: Intra-parenchymatous haemorrhage is the commonest manifestation of angiomas in children under 10 years of age. The high risk and serious consequences of bleeding make it necessary for treatment to be as radical as possible.

[Clinical-radiological evaluation of infantile autism and epileptic syndromes associated with autism]. / Evaluación clínico-radiológica del autismo infantil y de los síndromes epilépticos presentes en el autismo.

With the aim of ascertaining the existence of medical conditions associated with autism, the presence of pre- and perinatal factors, family antecedents as well as the prevalence rate of different epileptic syndromes in the juvenile autistic population, we carried out a retrospective observational study and looked at the medical history of 62 autistic children so diagnosed in the neuropaediatric service at Barakaldo Hospital Cruces in the past twenty years. All of them were diagnosed by a child neurologist following DSM-III-R criteria, having been by the same physician on at least one occasion. From the etiologic point of view, eight children (13%) presented specific syndromes, fifteen (23%) presented encephalopathies acquired pre-or perinatally, two (3.2%) had brain tumours and the remaining thirty-seven (61%) presented critogenetic autism. 47% of autistic children were seen to have some kind of epileptic syndrome: six had idiopathic epilepsy (juvenile myoclonic epilepsy 1: partial benign epilepsy with Rolandic point 2 ; petit mal 1; generalised primary epilepsy grand mal type 1); eleven had cryptogenic epilepsy (myoclonic epilepsy 1 ; focal 7; grand mal 1; Lennox 2) and secondary epilepsy in eleven other cases (West 4; focal 6; grand mal). In the literature an epileptic frequency among autistic subjects is quoted as being between 16% and 35% dropping to 6% in slight cryptogenic autistic cases. Our frequency rate among autistic children is much higher, reaching 47% of the total and affecting 46% of cryptogenic autistic cases. There were no cases of polymorphic nursing epilepsy in our series. Idiopathic and cryptogenic epilepsy were more frequent in cryptogenic autism.

[Neurological crisis in type 1 hereditary thyrosinemia]. / Crisis neurológicas en la tirosinemia hereditaria tipo I.

Type 1 hereditary thyrosinemia is a recessive autosomic disease arising from a deficit of fumarylacetoacetate hydrolase enzyme. Neurological changes are similar to those of intermittent acute porphyria, with no biological warning markers nor treatment other than that of symptoms. We present 2 patients suffering several sudden crises of peripheral neuropathy, with other signs of "neurological crisis" occurring at times. We conclude that neurological signs of the diseases are frequent and severe and that, in our limited experience, early liver transplant is the only way of preventing them.

Congenital nuclear syndrome of oculomotor nerve.

A patient is reported who suffered from a fixed, non-progressive encephalopathy caused by a lesion involving the left portion of both the mesencephalon and basal ganglia; the lesion was caused by an acquired prenatal vascular insult. The clinical expression of third cranial nerve palsy corresponds to a nuclear syndrome of the left oculomotor nerve, affecting both eyes asymmetrically, later developing into aberrant reinnervation.