[Serous otitis and ciliary dyskinesia syndrome]. / Otitis serosa y síndrome de disquinesia ciliar.

Ciliary dyskinesia syndrome or immotile cilia syndrome, is a congenital defect in the ultrastructure of cilia, which result in a clinical expression diverse: recurrent respiratory infections, recurrent otitis media, infertility in the adult male, and half of those situs inversus. A case of ciliary dyskinesia syndrome is presented, who suffered of recurrent pneumonia and relapsing secretory otitis media.

[Prune-belly syndrome in a female]. / Síndrome de "prune-belly", femenino.

Authors describe a case of newborn whose malformations of genitourinary tract of abdominal muscles deficiency and renal dysplasia make it very compatible with Prune-Belly Syndrome. The case it is exceptionally interesting because it is a female subject; and on the other hand because of its' associated malformations. The so debated pathogenic of the Syndrome is commented.

[Chronic renal insufficiency secondary to infectious mononucleosis]. / Insuficiencia renal crónica secundaria a mononucleosis infecciosa.

This report describes the first pediatric case of chronic renal failure as a complication of infectious mononucleosis in a 3 1/2 year old girl. The clinical features were marked at onset by proteinuria and later by nephrotic syndrome. The evolution to chronic renal failure took about two years. In the renal biopsy, lesions characteristic of interstitial nephritis were observed, associated with focal and segmental glomeruloesclerosis and deposits of C3 in granular and discontinued form. Renal participation in infectious mononucleosis is not unusual and fundamentally it is manifested by proteinuria and abnormalities of urinary sediment, with interstitial nephritis as a characteristic lesion in the renal biopsy.

[Xanthine lithiasis in a case of Lesch-Nyhan syndrome treated with allopurinol]. / Litiasis xantínica en un caso de síndrome de Lesch-Nyham tratado con allopurinol.

Classically it is considered that vital prognosis of Lesch-Nyhan syndrome depends on renal affectation secondary to uric nephropathy. A case of Lesch-Nyhan syndrome treated with Allopurinol is described which presented multiple and bilateral renal stones by precipitation of xanthine. Treatment with Allopurinol inhibits the formation of uric acid and qualitatively renal excretion of oxypurines modifies. In special circumstances (disminution of urinary output and pH), they can precipitate and originate a radiotransparent lithiasis with uric lithiasis. Interest of this case, lies in being alert to possible xanthine stone formation in patients with a large excretion of purinics metabolites, who are treated with Allopurinol.

[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.