Secuencia de Poland: aportación de dos nuevos casos / Poland sequence: two new cases

La secuencia de Poland es una anomalía musculosquelética congénita caracterizada por la ausencia de la porción esternal del músculo pectoral mayor asociada a braquisindactilia. Se presenta con una incidencia aproximada de 1/20.000-30.000 nacidos vivos (un 75% de los casos corresponde a varones), y en un 70% está afectado el lado derecho. Además de la asociacióncon la braquisandactilial, aausencia del pectoral mayor puede presentarse aislada o bien asociada a otras malformaciones, especialmente de la zona pectoral o del brazo y la mano homolaterales, como sindactilia, ausencia del pectoral menor, hipoplasia de la extremidad o amastia. También se puede asociar a alteraciones de otros territorios, como dextrocardia, síndrome de Moebius o neurofibromatosis. La etiología es desconocida y habitualmente no presenta base hereditaria. Se ha propuesto como teoría patogénica una hipoplasia de la arteria subclavia fetal. El tratamiento es quirúrgico, fundamentalmente con fines estéticoso para corregirlas a1teraciones funcionales de la mano que esta anomalía conlleva. Aportamos dos casos tratados en nuestro servicio de pediatría: uno corresponde a un varón recién nacido, con afectacióndel pectoral mayor e hipoplasia del arco anterior de las costillas 2-5, y el otro a una niña de 9 años afectada de asma mediada por inmunoglobulina E (lgE), que asocia a la agenesia del pectoral mayor una hipoplasia de la mama, una hipoplasia de la mano y braquisindactilia

Poland sequence is a congenital musculoskeletal disorder characterized by agenesis of the sternal portion of the pectoralis major muscle and brachysyndactyly. The incidence is about 1/20,000 to 1/30,000 live births. The ratio of males to females is 3:1 and the right is the side aftected in 70% of cases. The agenesis of the pectoralis major muscle can be the only manifestation or can be associated with other lesions in the pectoral region and ipsilateral upper extremity: brachysyndactyly, absence of the pectoralis minar muscle, hypoplasia of the arm or hand or amastia. Its association with other conditions, like dextrocardia, Moebius syndrome or neurofibromatosisis also possible. The etiology is unknown, and it is usually not hereditary. Hypoplasia of the fetal subclavian artery has been proposed as an underlying cause. The treatment is surgical, mainly for cosmetic reconstruction or improvement in the function of the affected hand. We report two new cases observed in our service. One involves a male infant with agenesis of pectoralis major and hypolasia of anterior arch of the 2nd to 5th ribs. The other patient isa 9-year-old girl with IgE-mediated asthma and agenesis of the pectoralis, breast hypoplasia, Sprengel's deformity and brachysyndacty

[Apert syndrome: clinico-epidemiological analysis of a series of consecutive cases in Spain]. / Síndrome de Apert: análisis clínico-epidemiológico de una serie consecutiva de casos en España.

OBJECTIVE: Apert syndrome is one of the five craniosynostosis syndromes caused by allelic mutations of the fibroblast growth-factor receptor 2 (FGFR2). It is characterized by symmetrical cutaneous and bony syndactyly of the hands and feet and a variety of pleiotrophic features of the skeleton, central nervous system, skin and internal organs. PATIENTS AND METHODS: We show the clinical and epidemiological characteristics of the 17 cases of Apert syndrome identified in a consecutive series of 26,956 malformed liveborn infants detected among 1,502,639 livebirths surveyed by the Spanish Collaborative Study of Congenital Malformations (CEMC) between April 1976 and March 1998. RESULTS AND CONCLUSIONS: The estimated frequency of Apert syndrome in Spain is 0.11 per 10,000 liveborn infants. All of the cases were sporadic and were associated with an increased paternal age. The clinical manifestations of our cases are concordant with the variable expression of the syndrome, with the cardinal features of acrocephaly secondary to craniosynostosis and syndactyly of hands and feet present in all cases, and other anomalies, including cardiovascular (23.5%), cleft palate (23.5%), urinary (5.9%) and central nervous system (5.9%), in some of the patients.

[An outbreak of neonatal meningitis caused by enterovirus]. / Brote neonatal de meningitis por enterovirus.

Six newborn infants affected by acute aseptic neonatal meningitis were attended during the months of June and July 1987. Fever, good general physical appearance and no associate focal symptomatology was the onset in five cases, whereas one of them had apnea spells. An increase in total cell count was present in CSF with polymorphonuclears predominance in two cases, being lymphocites more prevalent in the others. Enterovirus were demonstrated as a cause in three of them. After describing clinical facts and evolution, some epidemiological aspects are commented.