ABSTRACT
Introduction: Deletion syndromes are rare events in clinical practice. A chromosomal deletion occurs when seg-ments of genetic information are missing on a particular chromosome or more. The absence of some genes implies varied phenotypes, which detailed explanation is not fully elucidated yet. Objective: Report the case of a child with a terminal segment deletion of 8,9 Mb on the short arm of chromosome 6 (in 6p25.3p24.3) Methods: This case report was approved by the Ethics and Research Committee of the institution. For its preparation, the exam data provided by the patient's family were added from prenatal to early childhood and the discussion with professionals related to the case. Results: B.A.G., a two-year-old female child, the only daughter of non-consanguineous par-ents, no family history of similar diseases. She was born by premature cesarean section (GA: 35 weeks), presenting Dandy-Walker malformation, Fallot tetralogy, head circumference in the 97th percentile, and syndromic facies, with hypertelorism, low implantation of the ears, and opacity of both lenses. Conclusion: Deletions on chromosome 6 are a very rare genetic alteration. Until 2004, there were only 43 cases in the medical literature, excluding ring chromosome 6 anomalie31. Regarding the terminal deletions of the short arm, this case specifically - 6p24pter - was associated with developmental delay, brain malformations, abnormalities in the anterior chamber of the eye, hearing loss, and abnormalities in the ear, micrognathia, and heart diseases (AU)
Introdução: As síndromes de deleção são eventos raros na prática clínica. A deleção cromossômica ocorre quando segmentos de informação genética são perdidos em um ou mais cromossomos. A ausência de alguns genes implica em fenótipos variados, cuja explicação detalhada ainda não está totalmente elucidada. Objetivo: Relatar o caso de uma criança com deleção de segmento terminal de 8,9 Mb do braço curto do cromossomo 6 (em 6p25.3p24.3) Métodos: Esse relato de caso foi aprovado pelo Comitê de Ética e Pesquisa da Instituição. Para sua elaboração, foram adicionados os dados de exames fornecidos pela família do paciente desde o pré-natal até a primeira infância e a discussão com profissionais relacionados ao caso. Descrição do Caso: B.A.G., criança de dois anos, sexo femi-nino, filha única de pais não consanguíneos, sem antecedentes na família de doenças similares. Nasceu por cesárea prematura (IG 35 semanas), apresentando Síndrome de Dandy-Walker, tetralogia de Fallot, perímetro cefálico no percentil 97 e fácie sindrômica, com hipertelorismo, baixa implantação das orelhas e opacidades do cristalino bi-lateralmente. Conclusão: As deleções no cromossomo 6 são alterações genéticas de grande raridade. Até 2004, existiam apenas 43 casos na literatura médica, excluindo a anomalia do cromossomo 6 em anal 31. No que se refere às deleções terminais do braço curto, a do caso em questão - 6p24-pter - foram associadas o atraso no desenvol-vimento, malformações cerebrais, anormalidades na câmara anterior do olho, perda auditiva, anormalidades no ouvido, micrognatia e cardiopatias (AU)
Subject(s)
Humans , Female , Child, Preschool , Tetralogy of Fallot , Chromosome Deletion , Rare Diseases/diagnosis , Congenital, Hereditary, and Neonatal Diseases and Abnormalities/diagnosisABSTRACT
La epidermólisis bullosa comprende un grupo heterogéneo de enfermedades ampollosas de la piel y las mucosas, son de origen congénito y hereditario. Hacer el diagnóstico no es difícil si se tiene experiencia dermatológica, pero su clasificación es compleja y para ello se necesita considerar la clínica, la genética, la microscopia y la evaluación de laboratorio. El tratamiento de esta enfermedad es también dificultoso y son necesarias ciertas medidas, para proteger al paciente, evitar la aparición de lesiones y las complicaciones derivadas de ellas. Se describe el tratamiento de estas lesiones en un recién nacido, al que se administraron antibióticos profilácticos y se colocaron vendajes en las lesiones. Se describieron todos los cuidados y recomendaciones para evitar, especialmente los roces y las presiones en estas lesiones, así como las temperaturas altas. Para la confección del presente trabajo se consultaron 18 materiales entre revistas y libros de Pediatría. El caso reportado fue un recién nacido con epidermólisis bullosa atendido en el Hospital Universitario "Dr. Mario Muñoz Monroy" de Colón, Matanzas. Se demostró lo poco frecuente y raro de esta patología para los especialistas del tema (AU).
The epidermolysis bullosa includes a heterogeneous group of bullous skin and mucous diseases of congenital and hereditary origin. Diagnosing them is not difficult if the specialist has dermatologic experience, but their classification is complex and it is necessary to take into account the clinical, genetic and microscopic factors, and the laboratory assessment. The treatment of this disease is also difficult and it is necessary to take certain measures to protect the patient, avoid the onset of lesions and the complications derived from them. The treatment of these lesions in a newborn is described. Prophylactic antibiotics were administered and bandages were put on the lesions. All the cares and recommendations to avoid rubbings and pressures on these lesions, and also the high temperatures, are described. To develop the current term, 18 materials (journals and pediatric books) were consulted. The reported case was the case of a newborn with epidermolysis bullosa attended in the University Hospital "Dr. Mario Muñoz Monroy" of Colon, Matanzas. It was demonstrated the low frequency and rarity of this pathology for the specialists of the theme (AU).
Subject(s)
Humans , Male , Female , Infant, Newborn , Skin Diseases, Vesiculobullous/epidemiology , Epidermolysis Bullosa/epidemiology , Skin Diseases, Vesiculobullous/congenital , Skin Diseases, Vesiculobullous/diagnosis , Epidermolysis Bullosa/complications , Epidermolysis Bullosa/diagnosis , Epidermolysis Bullosa/rehabilitation , Epidermolysis Bullosa/therapy , Dermatology/methods , Congenital, Hereditary, and Neonatal Diseases and Abnormalities/diagnosis , Congenital, Hereditary, and Neonatal Diseases and Abnormalities/genetics , Congenital, Hereditary, and Neonatal Diseases and Abnormalities/epidemiologyABSTRACT
The aim of this study was to evaluate the neonatal cerebral blood flow velocity changes in moderate hypoxic ischemic encephalopathy [HIE] using color Doppler duplex ultrasound. Fifteen full term asphyxiated newborn infants with moderate HIE were examined prospectively using transfontanel color Doppler duplex ultrasound with 5 mHz curvilinear probe. Fifteen full term age and weight matched healthy newborn infants were also examined as a control group. The results showed a significant reduction in the mean values of peak systolic velocity [PSV], end diastolic velocity [EDV] and mean flow velocity [MV] in anterior cerebral artery [ACA] in newborn infants with HIE than those of the control group. The PSV, EDV and MV values in middle cerebral artery [MCA] were significantly lower than that of the control group. Doppler duplex ultrasound is noninvasive imaging modality to evaluate cerebrovascular dynamics in newborn infants with HIE
Subject(s)
Humans , Hypoxia, Brain/etiology , Congenital, Hereditary, and Neonatal Diseases and Abnormalities/diagnosis , Ultrasonography, Doppler, Color , Ultrasonography, Doppler, DuplexABSTRACT
Os autores relatam o caso de um neonato com retardo de crescimento intra-uterino e apresentando microcefalia, assimetria facial, pé-torto-congênito bilateral, artrogripose e hipoplasia genital, entre outras malformaçöes. Discutem os achados clinicos e a possibilidade de sindrome de Seckel como diagnóstico, a qual e uma condiçäo rara e de herança autossomica recessiva
Subject(s)
Humans , Male , Infant, Newborn , Chromosome Aberrations/diagnosis , Congenital, Hereditary, and Neonatal Diseases and Abnormalities/diagnosis , Fetal Growth Retardation/diagnosis , Arthrogryposis/etiology , Consanguinity , Facial Asymmetry/etiology , Inbreeding , Infant, Low Birth Weight , Microcephaly/etiology , Talipes/etiologyABSTRACT
Os autores descrevem um caso de gemelaridade conjugada incompleta, em que o feto parasito apresentava bacia, perineo e membros inferiores ligados a pelve do hospedeiro. Trata-se de um caso raro, no qual os métodos de imagem contribuiram para a conduta pós-natal, conferindo uma sobrevida adequada
Subject(s)
Humans , Female , Infant, Newborn , Pregnancy , Congenital, Hereditary, and Neonatal Diseases and Abnormalities/diagnosis , Twins, Monozygotic , Diagnostic Imaging/methods , Ultrasonography , UrographyABSTRACT
En este trabajo estandarizò la toma de muestra en sangre de cordòn de recièn nacidos por goteo en papel de filtro y se adecuo la tècnica de dosaje de TSH neonatal por el mètodo IRMA, en base a la producciòn local de estandaresw y trazadores, complementados con reactivos NETRIA. Se analizaron 2500 muestras del Centro de Salud N§ 5 y de la Maternidad del Hospital de Clìnicas. El rango de TSH neonatal (Confianza del 95 por ciento), es de 13.6 +/-15.7 microUI/ml, siendo el punto de corte de 30 microUI/ml