Julián Ramírez-Cheyne

Caso clínicoSíndrome de trisomía 18. Reporte de un caso clínicoTrisomy 18 syndrome: A case report

INTRODUCTION The trisomy 18 syndrome occurs due to the presence of an extra chromosome 18 in most cases. The prevalence in infants is estimated at 1:6000 to 1:8000. Those affected have a high mortality rate, only 4% may survive their first year of life. There are few reported cases exceeding five years of age. OBJECTIVE The aim of this paper is to report a case of trisomy 18 of long survival with oral cavity features not described in the literature, and to provide information to physicians and paediatricians about aetiology, phenotype, survival and genetic counselling. CASE REPORT A 7 year-old female patient with 2 karyotypes performed by lymphocyte culture showing 47XX+18 in all metaphases. She presented with growth deficiency, dysmorphic facies, severe psychomotor retardation and cognitive disability, inability to feed, lack of verbal language, sensorineural hearing loss, ataxia, cerebellar hypoplasia, and genitals with hypoplastic labia majora and minora. In the oral cavity: dome shaped palate, macroglossia, absence of upper central incisors and first upper and lower molars in mouth. X-ray findings showed formation of missing teeth, with late eruption being concluded. CONCLUSIONS In cases of trisomy 18 syndrome there is an increased risk of neonatal and infant mortality. The clinical characteristics in utero and in neonates have been well described. Since few cases exceeding five years of age have been reported, the phenotype is yet to be established. In the case being reported we describe oral cavity findings not documented in the literature.

Síndrome de trisomía 18. Reporte de un caso clínico

INTRODUCTION The trisomy 18 syndrome occurs due to the presence of an extra chromosome 18 in most cases. The prevalence in infants is estimated at 1:6000 to 1:8000. Those affected have a high mortality rate, only 4% may survive their first year of life. There are few reported cases exceeding five years of age. OBJECTIVE The aim of this paper is to report a case of trisomy 18 of long survival with oral cavity features not described in the literature, and to provide information to physicians and paediatricians about aetiology, phenotype, survival and genetic counselling. CASE REPORT A 7 year-old female patient with 2 karyotypes performed by lymphocyte culture showing 47XX+18 in all metaphases. She presented with growth deficiency, dysmorphic facies, severe psychomotor retardation and cognitive disability, inability to feed, lack of verbal language, sensorineural hearing loss, ataxia, cerebellar hypoplasia, and genitals with hypoplastic labia majora and minora. In the oral cavity: dome shaped palate, macroglossia, absence of upper central incisors and first upper and lower molars in mouth. X-ray findings showed formation of missing teeth, with late eruption being concluded. CONCLUSIONS In cases of trisomy 18 syndrome there is an increased risk of neonatal and infant mortality. The clinical characteristics in utero and in neonates have been well described. Since few cases exceeding five years of age have been reported, the phenotype is yet to be established. In the case being reported we describe oral cavity findings not documented in the literature.

Síndrome de deleción 22q11: bases embriológicas y algoritmo diagnóstico

The 22q11 deletion syndrome is characterized by a variable group of phenotypic features secondary to the loss of genetic material located on the band 22q11.2. Its spectrum covers multiple syndromes, previously considered independent but nowadays related to the same etiology with overlapping anomalies, including DiGeorge and velocardiofacial syndromes. It presents alterations in the immune and cardiac systems, neurodevelopment and palatal defects amongst the most common problems. This article is a review of the embryologic basis for the congenital heart defects, epidemiology, genetics, pathophysiology and clinical aspects of this disease. This is a rare disease but is a potentially underdiagnosed cause of morbidity and mortality in Colombia, for which a strategy for its active search is also proposed and diagnostic aspects are discussed.

Asociación MURCS: reporte de caso

RESUMEN La asociacion MURCS (Mullerian aplasia, Renal aplasia, Cervicothoracic Somite dysplasia) (OMIM%601076) hace referencia a un conjunto de anomalias congenitas, que sin ser debidas al azar, aparecen de forma concomitante en una persona. Se caracteriza por una aplasia Mulleriana, aplasia renal y displasia cervico-toracica provocadas por alteraciones en los somitas correspondientes, es de etiolo-gia heterogenea. Se presenta el caso de una paciente de 9 anos de edad, que es diagnosticada con la asociacion MURCS, por presentar agenesia uterina, hipoplasia y ectopia renal unilateral y malformacion de la 5ta vertebra cervical. Se enfatiza en la importancia de la busqueda activa de las otras anomalias diferentes a las Mullerianas para lograr el diagnostico y realizar un manejo integral e interdisciplinario.PALABRAS CLAVE: Asociacion MURCS, aplasia Mulleriana, anomalias congenitas,desordenes del desarrollo sexual SUMMARY The MURCS association (Mullerian aplasia, renal aplasia, Cervicothoracic Somite dysplasia) (OMIM%601076) refers to a set of congenital abnormalities, without being due to chance, they appear con-comitantly in a person. It is characterized by Mullerian aplasia, renal aplasia and cervicothoracic dysplasia caused by alterations in the corresponding somites. We describe a case report of a 9-year-old female, who is diagnosed with MURCS association, to present uterine agenesis, hypoplasia and unilateral renal ectopia and deformity of the 5th cervical vertebra. We emphasize the importance of interdisciplinary care, including a clinical geneticist in the care of patients with these characteristics.KEY WORDS:

Inequidades en el diagnóstico de anomalías congénitas mayores en recién nacidos en Cali, Colombia

SUMMARY Background: Major Congenital Anomalies (MCA) are present in 2-3% of live births. Most of these are diagnosable by prenatal ultrasound (PNUS). Developing countries have inequities in access to this screening test. Objectives: To determine existing inequities access to PNUS in mothers of newborns (NB) with MCA hospitalized in two neonatal intensive care units (NICU) and to identify inequities in the diagnosis of MCA among mothers to whom it was made at least one PNUS. Methods: Cross-sectional study in NB with MCA diagnosable by PNUS hospitalized in two NICUs of Cali, Colombia, between 2005 and 2009. The index of agreement (kappa) between prenatal diagnosis and definitive MCA was calculated. It was

Tremor-Ataxia Syndrome and Primary Ovarian Insufficiency in an FMR1 Premutation Carrier

Abstract Introduction: The FMR1 gene has four allelic variants according to the number of repeats of the CGG triplet. Premutation carriers with between 55 and 200 repeats are susceptible to developing pathologies such as tremor and ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) syndrome. Case description: The patient was a 53-year-old female farmer with severe tremor in the upper limbs at rest that worsens with movement, tremor in the jaw and tongue, and generalized cerebral atrophy. She is a carrier of the FMR1 premutation diagnosed by PCR and Southern Blot, complying with the clinical and radiological criteria of FXTAS, and in addition, has a history of vagal symptoms suggestive of ovarian failure and menstrual cycle disorders that led to hysterectomy at age 33 and was subsequently diagnosed with FXPOI. Conclusion: An unusual case of FXTAS and FXPOI complying with clinical and radiological criteria is reported in a premutation carrier of the FMR1 gene.

Síndrome de Sotos diagnosticado por hibridación genómica comparativa

UNLABELLED Sotos Syndrome (SS) is a genetic disease with an autosomal dominant pattern caused by haplo-insufficiency of NSD1 gene secondary to point mutations or microdeletion of the 5q35 locus where the gene is located. It is a rare syndrome, occurring in 7 out of every 100,000 births. The objective of this report is to present the case of a 4 year-old patient with a global developmental delay, as well as specific physical findings suggesting a syndrome of genetic origin. CLINICAL CASE Female patient, 4 years of age, thinning hair, triangular facie, long palpebral fissure, arched palate, prominent jaw, winged scapula and clinodactilia of the fifth finger both hands. The molecular test comparative genomic hybridisation test by microarray was subsequently performed, with the result showing 5q35.2 q35.3 region microdeletion of 2,082 MB, including the NSD1 gene. CONCLUSION Finally, this article also proposes the performing of comparative genomic hybridisation as the first diagnostic option in cases where clinical findings are suggestive of SS.

Sirenomelia: two cases in Cali, Colombia

We report two cases of sirenomelia, a rare congenital defect with a prevalence rate of 1:100 000 births; both cases were observed in Cali, Colombia. Both pregnant women were referred from Buenaventura, Colombia. The expecting mothers shared multiple adverse sociodemographic factors. Their homes were located in a city where the entire population is of low socioeconomic status living under conditions of extreme poverty. They were uneducated, with nutritional deficiencies and no access to drinking water most of the time. Both were exposed to water and fish from a nearby river contaminated with leachate from a poorly managed landfill. A similar relation was previously reported in Cali in 2005 between environmental factors and sirenomelia. We suggest that there is a common aetiological factor of environmental origin between these two sirenomelia cases and propose that exposure to derivatives from landfills should be included among the factors for this rare defect of multifactorial aetiological origin.

Ellis van Creveld: reporte de caso

Introduccion: El sindrome Ellis-van Creveld (EVC) (OMIM #225500) es una displasia esqueletica rara de herencia autosomica recesiva, cuyo diagnostico se realiza por sus caracteristicas fenotipicas como la condrodisplasia, cardiopatia y polidactilia. El pronostico depende fundamentalmente de la severidad de la cardiopatia, al igual que del diagnostico y manejo integral oportunos. Objetivo: Caracterizar un paciente con diagnostico clinico de Sindrome de EVC, cuya baja frecuencia dificulta el correcto diagnostico en pediatria. Caso clinico: Recien nacido con facies dismorfica, extremidades con huesos largos cortos, acortamiento rizomelico, manos pequenas, braquidactilia, pliegue palmar unico, polidactilia post axial en miembros superiores, polisin-dactilia preaxial bilateral en miembros inferiores y unas hipoplasicas, cardiopatia compleja y torax estrecho, en el que se concluyo un diagnostico clinico de EVC. La evolucion fue desfavorable, falleciendo a las 8 semanas de nacimiento por complicaciones secundarias a la cardiopatia. Conclusiones: El sindrome de EVC es de baja frecuencia y poco conocido, por lo que es importante difundir sus caracteristicas en la comunidad pediatrica, haciendo enfasis en que al afectar multiples sistemas y organos, requiere un manejo multidisciplinario con el objetivo de intervenir en la patologia individualizando cada paciente; ademas de consejeria genetica y reproductiva a las parejas, e informacion de las expectativas del desarrollo del nino.