[Pena-Shokeir syndrome type I, associated to Klippel-Feil syndrome type II in the same family]. / Secuencia de Pena-Shokeir tipo I, asociada a síndrome de Klippel-Feil tipo II en la misma familia.

INTRODUCTION: In 1974 Pena and Shokeir described an early lethal disorder (OMIM 208150) that was characterised by neurogenic arthrogryposis, facial abnormalities and pulmonary hypoplasia. It has recently been suggested that it is secondary to the reduction of movements in the uterus due to an intrinsic pathology regardless of the cause (FADS, foetal akinesia deformation sequence). Klippel-Feil (K-F) syndrome (OMIM 118100) is defined by the congenital fusion of one or two cervical vertebrae, and clinically manifests as a shortened neck, with limited head movements, and may also be associated to other malformations. CASE REPORTS: We report the case of a family diagnosed with K-F syndrome type II. It was observed in the father and one daughter; another child presented Pena-Shokeir type I and died during the neonatal period. Both siblings presented anomalies in the central nervous system. CONCLUSIONS: The incidence of FADS syndrome is 1/10,000 deliveries and that of K-F syndrome is between 1/35,000 and 1/42,000 births. We reviewed the literature on FADS syndrome and no familiar association with K-F syndrome was found among its causes. Our aim is to report that an association between the two conditions is possible, which is very important for establishing suitable genetic counselling.

Secuencia de Pena-Shokeir tipo I, asociada a síndrome de Klippel-Feil tipo II en la misma familia / Pena-shokeir syndrome type i, associated to klippel-feil syndrome type ii in the same family

Introducción. Pena y Shokeir, en 1974, describen un trastorno letal temprano (OMIM 208150) caracterizado por artogriposis neurogénica, anormalidades faciales e hipoplasia pulmonar. Actualmente se ha sugerido que es secundario a la disminución de movimientos en el útero por patología intrínseca sin importar la causa (síndrome FADS, fetal akinesia deformation sequence). El síndrome de Klippel-Feil (K-F) –OMIM 118100– está definido por la fusión congénita de una o dos vértebras cervicales y clínicamente presenta cuello corto, limitación de los movimientos de la cabeza, y puede asociar además otras malformaciones. Casos clínicos. Presentamos una familia diagnosticada de síndrome de K-F tipo II. Se evidenció en el padre y una hija, y otro hijo presentó secuencia de Pena-Shokeir tipo I y falleció en período neonatal. Los dos hermanos presentaron anomalías del sistema nervioso central. Conclusiones. El síndrome FADS presenta una incidencia de 1/10.000 nacidos, y el síndrome de K-F, 1/35.000-42.000 nacimientos. Revisamos la bibliografía del síndrome FADS y entre su etiología no hemos encontrado la asociación familiar con el síndrome de K-F. Nuestro objetivo es comunicar que la asociación entre ambas entidades es posible, lo cual resulta de gran importancia para establecer un consejo genético adecuado

Introduction. In 1974 Pena and Shokeir described an early lethal disorder (OMIM 208150) that was characterised by neurogenic arthrogryposis, facial abnormalities and pulmonary hypoplasia. It has recently been suggested that it is secondary to the reduction of movements in the uterus due to an intrinsic pathology regardless of the cause (FADS, foetal akinesia deformation sequence). Klippel-Feil (K-F) syndrome (OMIM 118100) is defined by the congenital fusion of one or two cervical vertebrae, and clinically manifests as a shortened neck, with limited head movements, and may also be associated to other malformations. Case reports. We report the case of a family diagnosed with K-F syndrome type II. It was observed in the father and one daughter; another child presented Pena-Shokeir type I and died during the neonatal period. Both siblingspresented anomalies in the central nervous system. Conclusions. The incidence of FADS syndrome is 1/10,000 deliveries and that of K-F syndrome is between 1/35,000 and 1/42,000 births. We reviewed the literature on FADS syndrome and no familiar association with K-F syndrome was found among its causes. Our aim is to report that an association between the two conditions is possible, which is very important for establishing suitable genetic counselling

Síndrome del nervio auriculotemporal en niños secundario a un parto instrumentado con fórceps / Auriculotemporal nerve syndrome in children secondary to a forceps delivery

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Paresia unilateral del III par craneal en un niño con hipertensión intracraneal benigna / Unilateral paresia of the third cranial nerve in a child with benign intracranial hypertension

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[First spontaneous epileptic crisis in childhood: risk of relapse and prognostic factors]. / Primera crisis epiléptica espontánea en la infancia. Riesgo de recidiva y factores pronósticos.

INTRODUCTION: Knowing the risk of relapse after a first epileptic crisis is important because of its repercussion on the patient. The prognosis is uncertain in some types of crisis. OBJECTIVE: To find the probability of relapse and risk factors after a first spontaneous epileptic convulsive crisis, focal or generalized, occurring in childhood or adolescence. PATIENTS AND METHODS: We followed a cohort of 139 patients from the Health District of Hospital General of Albacete who had had this type of crisis before the age of 14. Patients with acute symptomatic, febrile or neonatal convulsions were excluded. The probability of relapse was calculated using Kaplan-Meier curves, and multivariate analysis was carried out. RESULTS: The probability of relapse 24 months after the first epileptic crisis is 70% and after 76 months is 75%. Of a series of variables analyzed, the only one associated with increased risk of relapse was the 'aetiology': the relative risk of relapse in patients with previous symptomatic aetiology is 2.1 as compared with those of idiopathic aetiology (p < 0.001). CONCLUSIONS: Patients who have had a first focal or generalized convulsive epileptic crisis in childhood have a 75% probability of developing epilepsy over the subsequent 6 years; this risk is greater in those with a previous symptomatic aetiology, so this should be taken into account when deciding on the treatment of these patients.

[Neonatal convulsions in health care. II. Prognostic factors]. / Convulsiones neonatales en un área de salud. II. Factores pronósticos.

OBJECTIVE: To determine whether neonatal convulsions make up a homogeneous pathological group when it comes to establishing indices of prognosis. DESIGN: Descriptive study of retrospective cohorts. SCOPE: Twenty five cases of neonatal convulsions out of the 12,427 new born babies in the province of Albacete in the period 1991-1993 and the follow-up of their development up to December 1994. MATERIAL AND METHODS: Univariant analysis (variable dependent evolution; variable independent: type of crisis identified, interictal clinical features, EEG pattern and cerebral Eco-CT/MR) and multivariant analysis using a maximal logistic regression model. RESULTS: I. Univariant analysis. Type of crisis: we found differences between the types of crises presented (clonic, focal tonic, myoclonic, subtile with apnea, with no obvious crisis) and the prognosis, but no significant result. Neurological findings between crises: the RN who showed no change in consciousness following the convulsion had a better prognosis than those with changes in the level of consciousness between crises. The difference was significant (P = 0.03). Post-critic EEG pattern. The RN with a normal or a focal EEG were grouped together as opposed to those who showed alterations which were multifocal, had changes in the basic rhythm, were paroxysmal or of low voltage; the first type of EEG indicated the best prognosis (OR = 12.0; IC 95%; 1.1-159.5; p = 0.2). Radiodiagnosis: the RN with no changes on Eco or CT-RM had better prognoses (p > 0.001) than those with pathological ones. None had pathological sequelae (OR = 0.0). II. Multivariant analysis. The final method only retained the variable Rx (Radiodiagnosis) which implied that the other variables lost significance when corrected for association with Rx (p < 0.001) OR = 0.0. DISCUSSION: Although the clinical and EEG findings are indicators of prognosis, they lose their significance when correction is made for the underlying cerebral damage. The cause of the convulsions and the associated underlying cerebral lesion is the most important factor in determining the final outcome.

[Neonatal convulsions in health care. I. Incidence, etiology and clinical aspects]. / Convulsiones neonatales en un área de salud. I. Incidencia, etiología y aspectos clínicos.

OBJECTIVE: To determine the incidence, etiology and course of neonatal convulsions in the Albacete Health District between 1991 and 1993. DESIGN: A descriptive study of retrospective cohorts. SCOPE: 12,427 new born babies in the province of Albacete. The Hospital General de Albacete looks after a population of 376,071 inhabitants, attends 82% of the births in this area and its Neonatology Department is the only one in the province. METHOD: Incidence: we found 25 new born babies (RN) with neonatal convulsions: absolute incidence (IA) in live RN0/00.; IA in live full-term RN (RNI) 1.4(0/00); IA in preterm RN (RNPT) 13.4(0/00) and in immature RN (with a gestational age of < 29 weeks) 27.8(0/00). ETIOLOGY: hypoxic-ischaemic encephalopathy 32%, malformations or cerebral dysgenesis 24%, intracranial hemorrhage 16%, with less frequency: infections, metabolic and pharmacological changes 8%, epileptogenic diagnosis 4%. COURSE: 10 of the RN (40%) died, 8 (32%) had sequelae, although in 3 cases these were transient, and 7 had developed normally (28%). Other relevant aspects are described: neurological findings between crises, type of crisis, EEG and neuroimaging techniques. DISCUSSION: We attribute the poor prognosis of our series, as compared to other published series, to an increase in the incidence of convulsions associated with a worse prognosis (RN with antepartum fetal distress, cerebral malformations and metabolic encephalopathies), and a decrease in acute intercurrent conditions; hypoglucemia, hipocalcemia and hypothermia, which do not leave sequelae after treatment. Also when methods of clinical inclusion/EEG are used, evaluating only the epileptic phenomena, convulsive crises with minimal clinical signs are observed.