Complex Craniosynostosis in Pitt-Hopkins Syndrome: Case Report in Twins.

INTRODUCTION: Pitt-Hopkins syndrome (PTHS) is a rare genetic syndrome associated with neurodevelopmental disorders and craniofacial dysmorphisms caused by variations in the TCF4 transition factor. The aim of this article was to report the case of two twin infants diagnosed with PTHS, confirmed by the identification of a heterozygous pathogenic variant in the TCF4 gene through DNA extracted from a buccal swab. CASE PRESENTATION: Both infants presented with craniofacial asymmetry with a metopic crest and cranial deformity. During the diagnostic investigation, computed tomography with three-dimensional reconstruction of the skull showed premature fusion of the left coronal and metopic sutures in both twins. They underwent craniofacial reconstruction at the 9th month of age using a combination of techniques. The postoperative outcomes were satisfactory in both cases. CONCLUSION: To the best of our knowledge, this is the first case report to describe the occurrence of complex craniosynostosis (CCS) in children with PTHS. Further studies are needed to determine whether the co-occurrence of PTHS and CCS described here indicates an association or is explained by chance.

Minimally invasive therapy for the resolution of a subcapsular hepatic hematoma in a newborn. / Terapia mínimamente invasiva para el manejo de un hematoma subcapsular hepático en un recién nacido.

OBJECTIVE: To describe an innovative alternative to exploratory laparotomy in a newborn with a sub capsular hepatic hematoma secondary to umbilical vein catheterization. CLINICAL CASE: A preterm baby with a history of hyaline membrane disease, pulmonary hypertension, and large patent ductus arteriosus, requiring mechanical ventilation and the use of vasoactive drugs. Umbilical catheters were inserted and through an abdomen X-ray, we observed their proper position. The patient evolved with greater requirements of vasoactive drugs, abdominal wall pallor, and abdominal distention. Abdominal ultrasound showed a subcapsular hepatic hematoma, with no signs of active bleeding, so expectant management was decided. The patient required increased vasoactive drugs and presented a decrease in hematocrit. New ultrasound showed a larger subcapsular hematoma, abundant perihe patic fluid, and the intraparenchymal position of the umbilical catheter was confirmed. Endovascular embolization was performed through the umbilical catheter with Gelita®, achieving occlusion of the capsular path. Posterior ultrasound showed a reduction of the hematoma. CONCLUSIONS: The use of embolization through angiography is not commonly used in pediatric emergencies. It is a procedure with fewer comorbidities and complications than exploratory laparotomy, therefore it should be considered as first-line therapy in patients like the one presented above. The limitation for its routine performance is the lack of available angiography operating room and trained interventional radio logy team.

Excessive Prenatal Supplementation of Iodine and Fetal Goiter: Report of Two Cases Using Three-dimensional Ultrasound and Magnetic Resonance Imaging.

Fetal thyroid complications in pregnancy are uncommon, and are commonly related to the passage of substances through the placenta. The excessive iodine intake during the pregnancy is a well-known mechanism of fetal thyroid enlargement or goiter, and invasive procedures have been proposed for the treatment of fetal thyroid pathologies. In the present report, we demonstrate two cases from different centers of prenatal diagnosis of fetal thyroid enlargement and/or goiter in three fetuses (one pair of twins, wherein both fetuses were affected, and one singleton pregnancy). The anamnesis revealed the ingestion of iodine by the patients, prescribed from inadequate vitamin supplementation. In both cases, the cessation of iodine supplement intake resulted in a marked reduction of the volume of the fetal thyroid glands, demonstrating that conservative treatment may be an option in those cases. Also, clinicians must be aware that patients may be exposed to harmful dosages or substances during pregnancy.

As complicações fetais da tireoide na gravidez são incomuns e são comumente relacionadas à passagem de substâncias pela placenta. A ingestão excessiva de iodo durante a gravidez é um mecanismo bem conhecido de aumento da tireoide ou bócio fetal, e procedimentos invasivos foram propostos para o tratamento de patologias da tireoide fetal. No presente relato de caso, demonstramos dois casos de diferentes centros de diagnóstico pré-natal de aumento da tireoide fetal e/ou bócio em três fetos (um par de gêmeos, em que ambos os fetos foram afetados, e uma gravidez única). A anamnese revelou a ingestão de iodo pelos pacientes prescrita por suplementação inadequada de vitaminas. Nos dois casos, a interrupção da ingestão de suplemento de iodo resultou em uma redução acentuada do volume das glândulas tireoides fetais, demonstrando que o tratamento conservador pode ser uma opção nestes casos. Além disso, os médicos devem estar cientes de que as pacientes podem ser expostas a doses ou substâncias nocivas durante a gravidez.

Presentación inusual de teratomas ováricos bilaterales en gemelas / Bilateral ovarian mature teratomas in twins: an unsual presentation

RESUMEN Los teratomas maduros son los tumores ováricos más frecuentes en edad pediátrica. A la fecha, se han descrito escasos reportes sobre su aparición en gemelas. Se presenta el caso de teratomas ováricos bilaterales en gemelas bicoriales, tratadas con tumorectomía laparoscópica. A los 45 días post-operatorios, ambas presentan recurrencia bilateral con marcadores tumorales negativos. Se realiza una nueva tumorectomía laparoscópica, cuyo estudio histopatológico confirma teratomas maduros. Presentan segunda recurrencia evidenciada en control imagenológico a los 2 meses post-quirúrgicos. Se plantea la posible asociación genética y/o familiar en la aparición de teratomas ováricos, la cual, hasta el momento, es prácticamente desconocida.

ABSTRACT Mature cystic teratomas are the most frequent ovarian tumor in children. There are few reports describing mature teratoma in twins to date. We present a case of bicorial twins with bilateral ovaric mature cystic teratoma treated with laparoscopic tumorectomy. 45 days after surgery, both present bilateral recurrence with negative tumor markers. The patients underwent a new laparoscopic tumor resection, where histopathological diagnosis confirms mature teratomas. Ultrasound control describes second recurrence 2 months after surgery. There is a possible genetic and/or family association in the presentation of ovarian teratomas, which currently, is unknown.

Excessive prenatal supplementation of iodine and fetal goiter: report of two cases using three-dimensional ultrasound and magnetic resonance imaging / Suplementação pré-natal excessiva de iodo e bócio fetal: Relato de dois casos utilizando ultrassonografia tridimensional e ressonância magnética

Abstract Fetal thyroid complications in pregnancy are uncommon, and are commonly related to the passage of substances through the placenta. The excessive iodine intake during the pregnancy is a well-known mechanism of fetal thyroid enlargement or goiter, and invasive procedures have been proposed for the treatment of fetal thyroid pathologies. In the present report, we demonstrate two cases from different centers of prenatal diagnosis of fetal thyroid enlargement and/or goiter in three fetuses (one pair of twins, wherein both fetuses were affected, and one singleton pregnancy). The anamnesis revealed the ingestion of iodine by the patients, prescribed from inadequate vitamin supplementation. In both cases, the cessation of iodine supplement intake resulted in a marked reduction of the volume of the fetal thyroid glands, demonstrating that conservative treatmentmay be an option in those cases. Also, clinicians must be aware that patients may be exposed to harmful dosages or substances during pregnancy.

Resumo As complicações fetais da tireoide na gravidez são incomuns e são comumente relacionadas à passagem de substâncias pela placenta. A ingestão excessiva de iodo durante a gravidez é um mecanismo bem conhecido de aumento da tireoide ou bócio fetal, e procedimentos invasivos foram propostos para o tratamento de patologias da tireoide fetal. No presente relato de caso, demonstramos dois casos de diferentes centros de diagnóstico pré-natal de aumento da tireoide fetal e/ou bócio em três fetos (um par de gêmeos, em que ambos os fetos foram afetados, e uma gravidez única). A anamnese revelou a ingestão de iodo pelos pacientes prescrita por suplementação inadequada de vitaminas. Nos dois casos, a interrupção da ingestão de suplemento de iodo resultou em uma redução acentuada do volume das glândulas tireoides fetais, demonstrando que o tratamento conservador pode ser uma opção nestes casos. Além disso, os médicos devem estar cientes de que as pacientes podem ser expostas a doses ou substâncias nocivas durante a gravidez.

Gran feto acardio: diagnóstico tardío de gestacion gemelar monocorial biamniótica complicada por secuencia TRAP: reporte de un caso y revisión de la literatura / Great acardiac fetus: late diagnosis of monochorionic diamniotic twin pregnancy complicated by sequence TRAP: case report and review of the literature

OBJETIVOS: reportar el caso de una paciente con gestación gemelar monocorial-biamniótica complicada por secuencia TRAP que dio lugar al nacimiento de un feto bomba de 1932 gramos sin malformaciones anatómicas y de un feto acardio anceps de 1800 gramos, y realizar una revisión sobre esta patología y la importancia de su diagnóstico y tratamiento precoces. MATERIALES Y MÉTODOS: se presenta el caso de un feto acardio en una gestante con embarazo sin control estricto en el Hospital San Pedro de Logroño en el año 2019, de interés por su diagnóstico tardío y elevado peso al nacimiento del feto acardio. Se realizó una búsqueda de la literatura en las bases de datos Medline vía PubMed, OVID, Embase y SciE-LO con las palabras clave DeCS y términos MeSH. Como criterios de inclusión se consideraron artículos tipo series y reportes de casos y artículos de revisión desde enero de 1950 hasta enero de 2020. RESULTADOS: la búsqueda incluyó 39 referencias bibliográficas sobre las que se repasaron las principales cuestiones teóricas a exponer. El peso del feto acardio de nuestro caso fue muy elevado sin provocar repercusión en el feto sano, en comparación con la bibliografía, lo que aporta singularidad al caso, siendo sólo equiparable la serie de casos de Brassard et al (1999), con pesos de los fetos acardio por encima de 1700 gramos y diferenciándose en 100 gramos del feto bomba. CONCLUSIONES: el feto acardio es una complicación infrecuente de embarazos gemelares monocoriales. Se requiere la presencia de anastomosis vasculares placentarias entre ambas circulaciones. El diagnóstico precoz es importante para disminuir la morbilidad y usar, en la medida de lo posible, técnicas terapéuticas no invasivas.

OBJECTIVES: to report the case of a patient with a monochorionic-biamniotic twin gestation complicated by TRAP sequence that gave rise to the birth of a pump fetus without anatomical malformations (1932 g) and an acardiac anceps fetus (1800 g), and to review this pathology and the importance of its early diagnosis and management. MATERIAL AND METHODS: the case of an acardiac fetus is presented in a pregnant woman without strict control at the Hospital San Pedro de Logroño in 2019, worthwhile because of its late diagnosis and high birth weight. A search of the literature was carried out in the Medline databases via PubMed, OVID, Embase and SciELO with the MeSH terms. As inclusion criteria, we considered series-type articles and case reports, cohorts and review articles from January 1950 to January 2020. RESULTS: 39 bibliographic references were included with the main theoretical questions to be reviewed. Our acardiac fetus weight was very high comparing with the bibiography and without causing repercussion in the healthy fetus, which contributes to the uniqueness of the case, only the series report by Brassard et al (1999) is comparable, with weights of the acardiac fetus above 1700 grams and differing by 100 grams from the pump fetus. CONCLUSIONS: the acardiac fetus is an infrequent complication of monochorionic twin pregnancies. The presence of placental vascular anastomoses between both circulations is required. Early diagnosis is important to decrease morbidity and to use, as far as possible, non-invasive therapeutic techniques.

[Twin pregnancy discordant for trisomy 13: three cases]. / Gestación gemelar con un feto con síndrome de Patau (trisomía 13): tres casos clínicos.

BACKGROUND: The association between Patau's syndrome and multiple pregnancy is extremely rare. This paper reports three cases with different obstetric treatment. CASE 1: Dichorionic diamniotic twin pregnancy with a fetus affected by trisomy 13 diagnosed at 16 weeks of gestation. The pregnancy was managed conservatively resulting in the delivery of twins at 38 weeks. The structurally normal twin was male survived without sequelae, but the female fetus with trisomy 13 died shortly after delivery. CASE 2: Dichorionic diamniotic twin pregnancy. At 14 weeks of pregnancy, one of the fetus affected by trisomy 13 showed an early intrauterine growth restriction and a cystic hygroma. At 16 weeks of pregnancy the abnormal twin died spontaneously. Avaginal delivery occurred at 38 weeks being born a healthy male. CASE 3: Dichorionic diamniotic twin pregnancy. The trisomy 13 fetus had been diagnosed at 17 weeks of pregnancy and showed a cardiopathy. At 32 weeks of gestation a selective fetal reduction was performed. Vaginal delivery occurred at 35 weeks and a healthy newborn was born. CONCLUSION: Patau's syndrome has an unfortunate fetal and neonatal outcome. It is important an early diagnosis to establish the best strategy to minimize the risk of the healthy twin.

[Anti-D isoimmunization severe in a twin pregnancy. Case report]. / Isoinmunización grave anti-D en una gestación gemelar. Caso clínico.

Perinatal hemolytic disease occurs secondary to a hemolytic phenomenon of immune origin resulting in fetal or neonatal anemia. A 38-year-old pregnant woman was referred to the Department of high risk Obstetrics, Hospital Universitario La Paz Madrid because of presenting a dichorionic diamniotic twin pregnancy spontaneously, pre-pregnancy diabetes poorly controlled and severe alloinmunization anti-D. Her first pregnancy ended in a normal delivery at term; in the period of 4 years, she has three newborn with 36, 34 and 40 weeks respectively, who die with a week of life. After that, two intrauterine fetal death occur at 26 weeks of gestation. The patient who is RhD negative, suffers anti-D inmunization with a antibody titration of 1/1024 with 14 weeks of gestation. Twelve plasmapheresis, eight doses of anti-D inmunoglobulins and intrauterine transfusions has been the treatment received. A severe anemia is found during the ultrasound control of the middLe cerebral artery peak systolic velocity in both twins since the 16th week. It remains stable thanks to the treatment. Finally at the 28th week of gestation, pregnancy is terminated with a cesarean section. The twins are born alive and premature, but with good general state. The measurement of the middle cerebral artery peak systolic velocity predicts moderate-severe fetal anemia cases, which are the most important in the clinical management because of the need of active treatment or finish the pregnancy.

[Twin pregnancy with intrauterine death of one fetus: maternal and neonatal outcome of surviving fetus]. / Gestación gemelar con muerte intraútero de uno de los fetos: pronóstico materno y neonatal del feto superviviente.

BACKGROUND: happens in the womb when the death of one of the twins, it is necessary to consider the factors that influence the perinatal outcome of surviving fetus. OBJECTIVE: To review the outcome of twin pregnancies complicated by single fetal intrauterine death and how it can increase morbidity to its co-twin and its mother. MATERIAL AND METHODS: A retrospective analysis of the fifty one twin pregnancies complicated by single fetal intrauterine death in the second or third trimester in our centre from December 1999 to December 2010. RESULTS: Of the total amount of 1996 twin pregnancies attended in our centre, 51 were complicated by single fetal intrauterine death (2.5%). In 68.7% of the cases we found several maternal complications, such as 12.2% of preeclampsia and 12% of coagulopathies. As for the dead foetus, there was a 47% of malformations, a 19.6% of intrauterine fetal growth restriction and there was a 9.8% of cases complicated by twin-twin transfusion syndrome. In the group of the surviving co-twin, 9.8% developed intrauterine growth restriction, 9.8% oligohydramnios and 9.8% Doppler alterations. There was a high risk of prematurity with 43.1% of the births under 34 weeks and 13.7% under 30 weeks of pregnancy. The percentage of caesarean was 64.7%. There was 3 cases of co-twin died intra-uterus, and one more died postpartum. A 10% of the newborns had some kind of neurological disability. CONCLUSIONS: It seems that surviving co-twin prognosis is mainly compromised by prematurity and its consequences. There should be more prospective research to inform decision-making and evaluate and control the potential maternal and fetal risks.

[Fetus compressus and fetus papyraceous. Clinical differences (report of three cases)]. / Feto compreso y feto papiráceo. Diferencias clínicas, tres casos.

The items papyraceus fetus and fetus compressus are used like synonymous. The low incidence and the lack of reporting of these cases leads to confusion. Clinical evidence shows significant differences between them and sustain a proper diagnosis. We report 3 cases of patients with multiple pregnancy (2 twins and 1 triplets) observed in the death of one of the products of each patient, obtaining 2 fetus compressus and 1 fetus papyraceous, respectively.

Monoamniotic twin pregnancy discordant for lethal open cranial defect: management dilemmas.

OBJECTIVE: To report the sonographic findings, prenatal courses, and management options in four cases of monoamniotic twin pregnancy complicated by a discordant, lethal open cranial vault defect. METHODS: Cases were collected from two Latin American fetal medicine referral centers after the sonographic detection of a monoamniotic twin pregnancy in which one fetus was structurally normal and the other had a lethal open cranial vault defect. Three abnormal fetuses had acrania-anencephaly sequence and one had a large occipital encephalocele. The diagnosis was confirmed at referral, at which time umbilical cord entanglement was also diagnosed with color Doppler ultrasound in all cases. RESULTS: Two cases were managed with selective termination, one of which required referral to a fetal surgery center abroad because this option was illegal in Chile. The other case underwent radiofrequency ablation of the fetal intra-abdominal umbilical vessels after the corresponding ethics and legal committees approved the procedure. In both cases, the non-anomalous twin was born after 35 weeks and had no perinatal complications. Expectant management was performed in the other two cases, resulting in the death of the normal twin at 25 weeks. CONCLUSIONS: Monoamniotic twin pregnancy discordant for severe cranial vault defect is a serious condition with a high risk of fetal demise of the structurally normal fetus. Our experience, although limited, suggests that aggressive management with selective termination of the abnormal twin and transection of its umbilical cord in these cases may prevent the demise of the structurally normal co-twin.

Heterokaryotypic pregnancy: monozygotic monochorionic twins discordant for trisomy 13.

BACKGROUND: The occurrence of a discordant chromosomal abnormality in monozygotic twins is an extremely rare condition. CASE: We report the prenatal sonographic findings and cytogenetic studies in a monochorionic twin pregnancy discordant for severe fetal anomalies. Amniocenteses demonstrated heterokaryotypia for trisomy 13 in monozygotic twins. The pregnancy was managed conservatively, resulting in the delivery of discordant twins at 32 weeks. The structurally normal twin survived without sequelae, but the abnormal twin died shortly after delivery. CONCLUSIONS: This report adds to the literature the second known case of a spontaneously conceived monochorionic twin pregnancy discordant for trisomy 13 and highlights the necessity of sampling both fetuses in cases of monochorionic twins presenting with discordant structural anomalies.

COL4A1 mutation in preterm intraventricular hemorrhage.

Intraventricular hemorrhage is a common complication of preterm infants. Mutations in the type IV procollagen gene, COL4A1, are associated with cerebral small vessel disease with hemorrhage in adults and fetuses. We report a rare variant in COL4A1 associated with intraventricular hemorrhage in dizygotic preterm twins. These results expand the spectrum of diseases attributable to mutations in type IV procollagens.

Combined rTPA and aspirin therapy for intracardiac thrombosis in neonates.

We describe a case of a very low birth weight premature female twin with intracardiac thrombosis. Her condition was consistent with neonatal sepsis, and she was treated with advanced life support, antibiotic therapy, parenteral nutrition, blood transfusion, and central venous catheterization. Infective endocarditis was suspected, and a large intracavitary thrombus was detected by two-dimensional Doppler echocardiography. Surgical procedure was not only technically difficult but also highly lethal, being contraindicated in some cases. Consequently, the use of the thrombolytic recombinant tissue-plasminogen activator (rTPA) associated with aspirin was the treatment of choice, and complete dissolution of the thrombus was achieved without adverse effects.

Cantrell's Pentalogy in Twins: Prenatal Diagnosis.

The combination of an onphalocele, an anterior thoracic wall defect and an anterior diaphragmatic defect constitutes classical Cantrell's pentalogy. We present a case of Cantrell's pentalogy diagnosed prenataly in twins with conventional and three-dimensional sonography.

Siameses o gemelos unidos toracoonfalópagos y revisión de bibliografía nacional e internacional / Siamese or conjoined thoracoonphalopagus twins and review of national and international literature

Presentamos el caso clínico de gemela unida o siamés toracoonfalópago. Se destaca el diagnóstico prenatal, el manejo clínico y la resolución planificada del parto por operación cesárea, contando con un apoyo neonatológico de cuidado intensivo. Se da a conocer una revisión bibliográfica nacional e internacional.

A case of female thoraco omphalopagus conjoined twins is described. Antenatal diagnosis procedures, obstetric management and rational planning by cesarean section with neonatal intesive care facilities are discussed. A review reports national and international is presented.