RESUMO
INTRODUCTION AND OBJECTIVES: To study the diagnostic and outcome aspects of antenatally diagnosed primary megaureters and analyse the results of the postnatal medicochirurgical management. PATIENTS AND METHODS: The authors report a retrospective analysis of 12 patients been born between 1998 and 2009 with primary megaureter antenatally diagnosed between 20 and 32weeks of gestation. A postnatal radiological assessment comprising urinary tract ultrasound, DTPA or MAG3 renal scintigraphy, retrograde cystography, DMSA renal scintigraphy and intravenous urography was performed. All the patients were put under urinary antiseptic treatment and followed since the birth. RESULTS: This study comprised nine boys and three girls, all been born at term with normal trophicity. Mean age of antenatal diagnosis of hydronephrosis was 26weeks of gestation. Mean age of definitive postnatal diagnosis was ten months. Left megaureter was seen in five children, right in two cases and five patients had bilateral megaureter comprising a total of 17 renal units of which eight units were non-obstructed/non-refluxing, three units were refluxing, five units were obstructed and one unit was obstructed and refluxing. Megaureter was associated to controlateral ureteropelvic junction obstruction syndrome in one patient and to ipsilateral ureteral duplicity with a superior polar kidney in another case. Renal function was less than 20% in four renal units. The mean follow-up was four years (range : 10months to 11years). Outcome was marked by urinary infections in seven cases of which four patients had non-obstructed/non-refluxing megaureter. Six patients required surgical correction, two for non-obstructed/non-refluxing megaureter complicated with urinary recurring infections, three for obstructed megaureter with severe renal functional deterioration and one patient for bilateral refluxing megaureter grade V. Two other patients required surgical treatment, one for controlateral ureteropelvic junction obstruction syndrome and the other for ipsilateral ureteral duplicity with destroyed superior polar kidney. Mean age at surgery was 22,6months (range : 6 months to 7 years). CONCLUSION: Half of our patients with antenatal diagnosis of primary megaureter required surgical correction. Urinary recurring infections, renal functional deterioration less than 20% and importance of ureteral dilatation with vesico-ureteric reflux grade V were predictive factors for surgery.
Assuntos
Hidronefrose/diagnóstico por imagem , Ultrassonografia Pré-Natal , Doenças Ureterais/diagnóstico por imagem , Feminino , Seguimentos , Humanos , Hidronefrose/terapia , Recém-Nascido , Masculino , Gravidez , Estudos Retrospectivos , Doenças Ureterais/terapiaRESUMO
Triple X syndrome is a relatively common sex chromosomal abnormality occurring in 0,1% of live-born female infants. Most of these infants have a normal phenotype and only a few cases with 47, XXX karyotype have congenital malformations. We report three cases of triple X syndrome that were diagnosed prenatally by genetic amniocentesis for advanced maternal age and have been observed from birth to age of 3 to 12 years. A description of their growth and development is presented. The birth weight was normal in all patients and one of them had facial dysmorphism with right microphtalmia and auricular septal defect. During the first 2 years of life, the neuromotor development of these infants was not distinguishable from chromosomally normal children. By 3 years of age, two patients have a moderate developmental delay in speech and language. One girl 12-year-old had normal schooling. The diagnosis of the triple X syndrome can be never made because clinical demonstrations are not rather important to arouse the demand of a karyotype. Prenatal diagnosis is often made in front of the advanced maternal age. Expectant parents must be counseled as to the significance of this 47, XXX karyotype and prognostic information must be given.
Assuntos
Cromossomos Humanos X/genética , Diagnóstico Pré-Natal , Aberrações dos Cromossomos Sexuais , Criança , Deficiências do Desenvolvimento/genética , Feminino , Humanos , Cariotipagem , Idade Materna , GravidezRESUMO
The beta-thalassemia trait is a heterozygous beta-thalassemia characterized by a partial deficiency of the synthesis of beta-globin chains of hemoglobin. It is usually asymptomatic and the diagnosis is often made on the occasion of the completion of a systematic blood count or a family survey. Clinical expression during the neonatal period is impossible and its association with hereditary spherocytosis is common. We report two monozygotic twins who, on the 3rd day of life, presented intense jaundice, unconjugated bilirubin associated with anemia, without hepatosplenomegaly. Laboratory tests found nonimmune hemolytic anemia with microcytosis and hypochromia justifying iterative blood transfusions. The etiological investigation found heterozygous beta-thalassemia associated with hereditary spherocytosis. The family investigation and molecular analysis objectified the beta-thalassemic mutation IVS1nt110 (GâA) in the heterozygous state in the twins, the father, the mother, and in one of the two brothers. With any nonimmune hemolytic anemia in newborns, the etiological investigation should be systematic for early diagnosis and to plan appropriate treatment.
Assuntos
Doenças em Gêmeos/diagnóstico , Doenças em Gêmeos/genética , Esferocitose Hereditária/diagnóstico , Esferocitose Hereditária/genética , Gêmeos Monozigóticos , Criança , Pré-Escolar , Códon sem Sentido/genética , Análise Mutacional de DNA , Feminino , Seguimentos , Expressão Gênica/genética , Triagem de Portadores Genéticos , Testes Genéticos , Genótipo , Hemoglobinometria , Humanos , Lactente , Recém-Nascido , Talassemia beta/diagnóstico , Talassemia beta/genéticaRESUMO
Ureterocele is a rare urologic disorder characterized by pseudocystic dilatation of the terminal submucosal ureter. Most cases of ureteroceles are associated with complete ureteral duplicity and ureterohydronephrosis, whereas ureteroceles on simplex ureters are rarer. The authors report two cases of bilateral ureteroceles on simplex ureters diagnosed prenatally at 30 and 32weeks gestation. Fetal ultrasound had revealed bilateral ureterohydronephrosis. The delivery was made at term and renal function was normal at birth. Radiological and isotopic studies of the urinary tract confirmed the diagnosis of bilateral ureteroceles on simplex ureters that were obstructive in one case and not obstructive in the other case. Both cases had urinary antiseptic treatment and neither had urinary infection. Endoscopic puncture with electrocoagulation of ureteroceles was performed at 8 and 14months of age, respectively, with a simple postoperative course. Prenatal diagnosis of ureteroceles is essential to plan early multidisciplinary care to avoid long-term renal consequences.
Assuntos
Diagnóstico Pré-Natal , Ureterocele/diagnóstico por imagem , Ureterocele/terapia , Feminino , Humanos , Recém-Nascido , MasculinoRESUMO
Imperforate hymen is the most frequent congenital malformation of the female genital tract and usually remains asymptomatic until puberty. The diagnosis of this malformation is rarely made at birth and surgical treatment is often by hymenotomy. However, spontaneous rupture of the imperforate hymen is possible but is very rare. We report two cases of imperforate hymen revealed by mucocolpos at birth. Ultrasound examination does not objectify hydrocolpos or hydrometrocolpos. Spontaneous rupture of the imperforate hymen was observed respectively in the 4th and 7th day of life with a satisfactory result at 1 month of age. Screening for the imperforate hymen must be systematic at birth to offer early hymenotomy if the spontaneous rupture is not adequate and prevent serious complications of the disease at puberty.
Assuntos
Hímen/anormalidades , Distúrbios Menstruais , Anormalidades Congênitas , Feminino , Humanos , Recém-Nascido , Distúrbios Menstruais/diagnóstico , Distúrbios Menstruais/terapia , Ruptura EspontâneaRESUMO
BACKGROUND: Diabetic retinopathy (DR) is a severe complication of diabetic microangiopathy. The prevalence is low in children and increases with patient age and duration of diabetes. PATIENTS AND METHODS: Full ophthalmologic examination was completed by fluorescein angiography in 36 diabetic patients diagnosed in childhood, with duration of diabetes more than 5 years. RESULTS: After 5 years of diabetes, 44% of the patients had DR. Background retinopathy was found in 31%, preproliferative retinopathy in 5% and proliferative retinopathy in 8% of cases. DR was associated with diabetic maculopathy in 8 patients and cataract in 4 patients. DR was correlated with the age of patients at diagnosis of diabetes, time of ophthalmologic examination, sex, duration and balance of diabetes. CONCLUSION: The frequency of DR increases with the duration and the imbalance of diabetes. The importance of well balanced diabetes and regular ophthalmologic examination were necessary to decrease the frequency of DR.
Assuntos
Retinopatia Diabética/epidemiologia , Adolescente , Adulto , Fatores Etários , Criança , Feminino , Humanos , Masculino , Prevalência , Fatores de RiscoRESUMO
A severe form of autosomal recessive osteopetrosis associated with Dandy-Walker syndrome and agenesis of the corpus callosum is reported in a full-term boy born to consanguineous parents. The diagnosis was made shortly after birth. Clinical features were cranio-facial dysmorphy, macrocephaly, hepatosplenomegaly, severe anemia and thrombocytopenia. Skeletal radiographs revealed generalized increase in bone density and abnormal metaphyseal remodeling. Cranial ultrasonogram and computed tomography scan showed Dandy-Walker syndrome, agenesis of corpus callosum and hydrocephalus. The patient rapidly developed severe medullary deficiency and a severe pulmonary infection. He died at the age of 2 months. This association seems extremely rare and was not previously reported in the literature.
Assuntos
Agenesia do Corpo Caloso , Síndrome de Dandy-Walker/complicações , Osteopetrose/etiologia , Anormalidades Múltiplas , Aberrações Cromossômicas , Síndrome de Dandy-Walker/genética , Humanos , Hidrocefalia , Recém-Nascido , Masculino , Osteopetrose/genética , Osteopetrose/patologiaRESUMO
Cystic lymphangiomas are benign malformative tumors of the lymphatic vessels, rare but potentially serious and usually located in the cervical region. The diagnosis is usually easy, but the treatment is sometimes difficult because of their location and extension into the surrounding tissue. We report a case of giant cystic lymphangioma of the right axillary-thoracic wall diagnosed by prenatal ultrasound at 20 weeks gestation. The male infant was born at 37 weeks gestation with a large, swelling, lateral parietal right chest. Ultrasound soft tissue and chest CT scan confirmed the diagnosis of giant cystic lymphangioma of the right axillary-thoracic wall. Surgical excision was performed on the 21st day after birth and the mass was excised incompletely. The postoperative course was uncomplicated. Ultrasound soft tissue follow-up showed the persistence of multiple cystic structures in the axilla. Prenatal diagnosis of these tumors is essential for planning multidisciplinary management in early postnatal care.
Assuntos
Linfangioma Cístico/diagnóstico , Diagnóstico Pré-Natal , Neoplasias Torácicas/diagnóstico , Parede Torácica , Feminino , Humanos , Recém-Nascido , Masculino , GravidezRESUMO
OBJECTIVES: To study the epidemiological, clinical, and bacteriological aspects as well as the outcome of neonatal bacterial meningitis and analyze the factors of poor prognosis of this condition. PATIENTS AND METHODS: We report a retrospective analysis of 44 cases of neonatal bacterial meningitis hospitalized in the pediatric unit of Tahar Sfar Hospital in Mahdia, Tunisia, between January 1996 and December 2010. Inclusion criteria were infants less than 29 days of age who were hospitalized for bacterial meningitis diagnosed on either the presence of bacteria in cerebrospinal fluid or with more than 50 cells/mm(3), predominance of neutrophils, and the protein level greater than 1.2g/l. Clinical data were obtained through the analysis of patient files. Statistical analysis was based on the Chi(2) test, and P-values less than 0.05 were considered statistically significant. RESULTS: The incidence of neonatal bacterial meningitis was 0.49 per 1000 live births. The patients were premature in 20.4 % and low birth weight in 13.6 % of cases. The clinical presentation was not specific for most cases. The main signs at admission were hyperthermia (43.2 %), refusal to nurse (20.4 %), seizures (18.2 %), and respiratory distress (13.6 %). The cerebrospinal fluid culture was positive in 36.4 % of cases. The group B streptococcus was the most frequently isolated (62.5 %) followed by Escherichia coli (12.5 %). The association of cefotaxime-ampicillin-gentamicin was used as the first treatment in all cases. Ofloxacin was associated with initial antibiotic therapy during the first 5 days in 20.4 % of cases. The mortality rate was 15.9 % and the rate of neurological sequelae in survivors was 21.6 %. Prematurity, low birth weight, shock, respiratory distress, and pleocytosis of less than 500 cells/mm(3) were the main factors of a poor prognosis. The addition of ofloxacin to the initial antibiotic therapy was associated with a decreased rate of neurological sequelae in survivors (11 % vs. 25 %, P=0.042). CONCLUSION: This study emphasizes the severity of neonatal bacterial meningitis with high rates of mortality and neurological sequelae, especially in premature and low birth weight infants. An early diagnosis and effective antibiotic therapy is needed to improve the prognosis.
Assuntos
Meningites Bacterianas/epidemiologia , Antibacterianos/uso terapêutico , Quimioterapia Combinada , Feminino , Mortalidade Hospitalar , Humanos , Incidência , Recém-Nascido de Baixo Peso , Recém-Nascido , Recém-Nascido Prematuro , Leucocitose/epidemiologia , Masculino , Meningites Bacterianas/tratamento farmacológico , Meningites Bacterianas/microbiologia , Prognóstico , Síndrome do Desconforto Respiratório do Recém-Nascido/epidemiologia , Estudos Retrospectivos , Choque/epidemiologia , Tunísia/epidemiologiaRESUMO
Renal vein thrombosis (RVT) is a rare but potentially serious neonatal disease. Its epidemiology and its clinical and biological expression are currently well known, but its etiological exploration, like that of venous thromboembolism, is increasingly complex. Perinatal risk factors such as prematurity, dehydration, and birth asphyxia have lost their direct accountability at the expense of their interaction with constitutional disorders of hemostasis. We report a case of RVT in a newborn who was a heterozygous carrier of both factor V Leiden and the methylene tetrahydrofolate reductase (MTHFR) gene mutation. We recall the clinical and epidemiological characteristics. A search for inborn blood coagulation disorders should be systematic in the newborn infant with venous thrombosis because of the risk of recurrence, taking into account perinatal factors and maternal thrombophilia (especially if RVT is established during the prenatal period).
Assuntos
Análise Mutacional de DNA , Fator V/genética , Triagem de Portadores Genéticos , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Veias Renais , Trombose Venosa/genética , Diagnóstico Diferencial , Predisposição Genética para Doença/genética , Testes Genéticos , Homocisteína/sangue , Homocisteína/genética , Homozigoto , Humanos , Recém-Nascido , Masculino , Trombofilia/diagnóstico , Trombofilia/genética , Trombose Venosa/diagnósticoRESUMO
Infantile cutaneous hemangioma is a benign vascular tumor and is very frequent in infants. The evolution is mostly favorable with spontaneous regression in 80% of cases. Clinical diagnosis is easy in its triphasic typical form with a phase of sometimes brutal postnatal growth, a phase of stabilization and a phase of slow secondary regression. We report a case of a giant facial hemangioma diagnosed at birth in full-term female newborn getting the right peri-orbital and fronto-temporal region. Initial evolution was marked by a fast increase of the tumor justifying its stake under prednisone at the age of 3 months but without improvement. At the age of 6 months, the patient was hospitalized for infection of the hemangioma with favorable evolution under oxacilline. Following evolution was marked by the total regression of the hemangioma at the age of 5 years at the price of peri-orbital cutaneous scars. We discuss here the diagnostic, therapeutic and evolutionary aspects of this pathology and review of the literature.
Assuntos
Neoplasias Faciais , Hemangioma , Regressão Neoplásica Espontânea , Neoplasias Faciais/diagnóstico , Neoplasias Faciais/terapia , Feminino , Hemangioma/diagnóstico , Hemangioma/terapia , Humanos , Recém-NascidoRESUMO
INTRODUCTION: Congenital epulis, known as a congenital gingival granular cell tumor, is a benign tumor and very rare in newborns. Voluminous or multiple tumors can cause mechanical obstruction of the oral cavity and may result in postnatal feeding and respiratory problems. DISCUSSION: We report the clinical case of a female full-term newborn who presented a tumor on the upper gum obtruding into the oral cavity discovered at birth. The pregnancy was followed normally with three prenatal ultrasounds, which did not show abnormalities. The mass was excised under local anesthesia on the second day of life. The outcome was good after surgery and regular feedings were started on the second postoperative day. Histological examination confirmed the diagnosis of gingival tumor with granular cells and absence of signs of malignancy. CONCLUSION: Prenatal diagnosis is fundamental in the therapeutic approach to this rare lesion but remains difficult because the findings are non specific and the generally late development of the tumor.
Assuntos
Neoplasias Gengivais/congênito , Tumor de Células Granulares/congênito , Feminino , Neoplasias Gengivais/complicações , Neoplasias Gengivais/cirurgia , Tumor de Células Granulares/complicações , Tumor de Células Granulares/cirurgia , Humanos , Recém-NascidoRESUMO
Triploidy is one of the most common chromosomal aberrations in spontaneous abortions characterized by a 69-chromosome karyotype. This chromosome abnormality is rare in live-born children. Prevalence is lower than 1/50,000. We report on two premature newborns, male and female, born at 35 and 37 weeks of gestation, who presented with severe intrauterine growth retardation, facial dysmorphy, myelomeningocele, and syndactyly. They died during the first hours of life due to respiratory distress syndrome. Analysis of the karyotype showed a homogeneous triploidy on all mitoses: 69 XXY and 69 XXX. The parental origin of the triploidy can have specific effects in the fetal phenotype and the development of the placenta.
Assuntos
Ploidias , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia , Anormalidades Múltiplas/genética , Evolução Fatal , Feminino , Humanos , Recém-Nascido , MasculinoRESUMO
Neonatal diabetes mellitus is a rare entity defined as hyperglycaemia occurring within the first 3 months of life that lasts for at least 2 weeks and requiring insulin therapy for unforeseeable duration. We report the case of a full-term female infant with permanent neonatal diabetes mellitus, stemming from consanguineous parents, born with severe intra-uterine growth retardation and birth weight of 1400 g. The patient presented on the 15th day of life a severe dehydration with a fever and ponderal loss of 14 %. The biology showed hyperglycaemia to 15 mmol/L, moderate metabolic acidosis, glucosuria and ketonuria. The diagnosis of neonatal diabetes mellitus was reserved, justifying its stake under insulin. Etiologic investigation showed a type HLA-DR4/DR8; anti-insulin antibodies were weakly positive, Langerhans islet cell and anti-GAD antibodies were negative. Abdominal magnetic resonance imaging scans, karyotype, molecular biology and chromatography of amino and organic acids did not show any abnormalities. During the first 2 years of age, the patient presented a big instability of glycaemia having required several hospitalizations. After 12 years of age, the patient is still under insulin with a satisfactory glycaemia balance and her growth is normal. Besides, she presents a microcephaly with a spastic walking. The search of neonatal diabetes mellitus must be systematic in front of any fetal hypotrophy allowing a premature coverage and a good prognosis.