Gratidão e Consagração

NINA e ENZO (meus filhos) são as palavras que o vovô Wado usou para criar este poema em acróstico.

Gratidão e Consagração
Oswaldo Carreiro

Nunca meus lábios cessarão de cantar
Inspiração Tua graça me dá
No Teu amor estou sempre amparado
A Ti a honra, glória e louvor!

És para mim a razão de viver
Nada é melhor que a Ti pertencer
Zelo e temor têm meus pés bem firmados
Onde estiver sou todo teu Senhor!

Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome – Review of 5 cases

Vasilica PLAIASUa, MD; Diana OCHIANAa, biol.; Gabriela MOTEIa, biol.; Ioana ANCAb, MD, PhD; Adrian GEORGESCUb, MD, PhD
aGenetics Department, IOMC “Alfred Rusescu”, Bucharest, Romania bPediatrics Department, “Carol Davila” University of Medicine and Pharmacy, IOMC “Alfred Rusescu”, Bucharest, Romania

Resumo / Abstract

Introduction: Patau syndrome (trisomy 13) is one of the most common chromosomal anomalies clinically characterized by the presence of numerous malformations with a limited survival rate for most cases. Babies are usually identified at birth and the diagnosis is confirmed with genetic testing. Materials and methods: In this review we outline the clinical and cytogenetic aspects of trisomy 13 and associated phenotypes for 5 cases analyzed in the last 3 years, referred to our Clinical Genetics Department. For each child cytogenetic analysis was performed to determine the genetic variant; also, the patients were investigated for other associated malformations (cardiac, cerebral, renal, ocular anomalies). Discussion: All 5 cases presented multiple malformations, including some but not all signs of the classical clinical triad suggestive of Patau syndrome. The cytogenetic investigation confirmed for each case the suspected diagnosis and also indicated the specific genetic variant, this being a valuable information for the genetic counselling of the families. Conclusion: The application of genetic analysis can increase diagnosis and prognosis accuracy and have an impact on clinical management.

Keywords: trisomy 13, Patau syndrome, polydactyly, cleft palate, microphthalmia, genetics

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Patau syndrome with long survival in a case of unusual mosaic trisomy 13

Giuseppina Fogu a,*, Emanuela Maserati b, Francesca Cambosu a, Maria Antonietta Moro a, Fausto Poddie a, Giovanna Soro a, Pasquale Bandiera c, Gigliola Serra d, Gianni Tusacciu d, Giuseppina Sanna d, Vittorio Mazzarello c, Andrea Montella c
a Clinical Genetics, Department of Biomedical Sciences, University of Sassari, viale San Pietro,
43/C, 07100 Sassari, Italy
b Department of Experimental and Clinical Biomedical Sciences, University of Insubria, Varese, Italy
c Anatomy and Histology Division, Department of Biomedical Sciences, University of Sassari, Italy
d Institute of Child Neuropsychiatry, University of Sassari, Italy

Received 21 January 2008; accepted 27 March 2008
Available online 9 April 2008

Abstract / Resumo
We report a 12-year-old patient with Patau syndrome, in whom two cell lines were present from birth,
one with total trisomy 13 due to isochromosome (13q), and one with partial trisomy 13. A cytogenetic re-evaluation at 9 years of age brought to light in skin fibroblasts a third cell line, partially monosomic for chromosome 13. The derivatives (13) present in the three cell lines were characterized through fluorescence in situ hybridization (FISH) experiments with suitable probes; the results suggested a sequence of rearrangements which beginning from an isochromosome (13q) could have led to the other two derivatives. We report the clinical data at birth and at the age of 12; at this age pigmentary lesions with phylloid pattern were noted. Cytogenetic findings of the chromosomal analyses on different tissues, including skin fibroblasts from differently pigmented areas, are also reported. 2008 Elsevier Masson SAS. All rights reserved.

Keywords: Patau syndrome; Trisomy 13; Mosaicism; FISH; Phylloid hypomelanosis

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Persistent congenital milia involving the skin of the whole body in an infant with trisomy 13 syndrome

Abstract / Resumo

Milia are tiny pearly-white cysts on the surface of the skin. In newborns, milia are usually located around the nose and eyes and generally disappear after the first several weeks of life. Trisomy 13 is a severe chromosomal disorder, with various complications. Here, we report a case of a 9-month-old female infant with trisomy 13 who had persistent congenital milia covering her entire body surface.

Multiple pearly-white cysts measuring 1 to 2 mm in diameter on: (A) back; and (B) pudendum.

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Prenatal Diagnosis and Genetic Counseling for Mosaic Trisomy 13

Chih-Ping Chen1,2,3,4,5,6*
1Department of Obstetrics and Gynecology and 2Medical Research, Mackay Memorial Hospital, Taipei, 3Department of Biotechnology, Asia University, 4School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, 5Institute of Clinical and Community Health Nursing and 6Department of Obstetrics and Gynecology, National Yang-Ming University, Taipei, Taiwan.

Resumo / Summary

Counseling parents of a fetus with trisomy 13 mosaicism remains difficult because of the phenotypic variability associated with the condition; some patients exhibit the typical phenotype of complete trisomy 13 with neonatal death, while others have few dysmorphic features and prolonged survival. This article provides a comprehensive review of the prenatal diagnosis and genetic counseling for mosaic trisomy 13, including confined placental mosaicism 13, mosaic trisomy 13 diagnosed at amniocentesis, and phylloid hypomelanosis in association with mosaic trisomy 13. [Taiwan J Obstet Gynecol 2010;49(1):13–22]

Key Words: confined placental mosaicism, mosaicism, phylloid hypomelanosis, prenatal diagnosis, trisomy 13

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The Impact of Cardiac Surgery in Patients with Trisomy 18 and Trisomy 13 in Japan

Jun Maeda,1 Hiroyuki Yamagishi,1* Yoshiyuki Furutani,2 Mitsuhiro Kamisago,3 Tadashi Waragai,4 Shinji Oana,5 Hiroki Kajino,6 Hiroyuki Matsuura,7 Katsuhiko Mori,8 Rumiko Matsuoka,2 and Toshio Nakanishi9
1Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan 2International Research and Educational Institute for Integrated Medical Sciences, Tokyo Women’s Medical University, Tokyo, Japan 3Department of Pediatrics, Nippon Medical School, Tokyo, Japan 4Department of Pediatrics, Kyorin University School of Medicine, Tokyo, Japan 5Division of General Pediatrics, Department of Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan 6Department of Pediatrics, Asahikawa Medical School, Hokkaido, Japan 7The First Department of Pediatrics, Toho University Omori Medical Center, Tokyo. Japan 8Department of Pediatrics, Sakakibara Memorial Hospital, Tokyo. Japan 9Department of Pediatric Cardiology, Tokyo Women’s Medical University, Tokyo, Japan 
Received 9 December 2010; Accepted 29 July 2011

Congenital heart defects (CHD) are very common in patients with trisomy 18 (T18) and trisomy 13 (T13). The surgical indication of CHD remains controversial since the natural history of these trisomies is documented to be poor. To investigate the outcome of CHD in patients with T18 and T13, we collected and evaluated clinical data from 134 patients with T18 and 27 patients with T13 through nationwide network of Japanese Society of Pediatric Cardiology and Cardiac Surgery. In patients with T18, 23 (17%) of 134 were alive at this survey. One hundred twenty-six (94%) of 134 patients had CHDs. The most common CHD was ventricular septal defect (VSD, 59%). Sixtyfive (52%) of 126 patients with CHD developed pulmonary hypertension (PH). Thirty-two (25%) of 126 patients with CHD underwent cardiac surgery and 18 patients (56%) have survived beyond postoperative period. While palliative surgery was performed in most patients, six cases (19%) underwent intracardiac repair for VSD. Operated patients survived longer than those who did not have surgery (P<0.01). In patients with T13, 5 (19%) of 27 patients were alive during study period. Twenty-three (85%) of 27 patients had CHD and 13 (57%) of 27 patients had PH. Atrial septal defect was the most common form of CHD (22%). Cardiac surgery was done in 6 (26%) of 23 patients. In this study, approximately a quarter of patients underwent surgery for CHD in both trisomies. Cardiac surgery may improve survival in selected patients with T18. 2011 Wiley Periodicals, Inc.

Key words: trisomy 18; trisomy 13; cardiac surgery

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The Risk of Fetal Loss Following a Prenatal Diagnosis of Trisomy 13 or Trisomy 18

Joan K. Morris1* and George M. Savva2

1Centre for Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, St. Bartholomew’s and the London, Queen Mary’s School of Medicine and Dentistry, Charterhouse Square, London, UK

2Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK

Received 12 July 2007; Accepted 23 November 2007

The objective of this study is to determine the risk of fetal loss (spontaneous abortion or stillbirth) following a prenatal diagnosis of trisomy 13 (T13; Patau syndrome) or trisomy 18 (T18; Edwards syndrome). Five regional congenital anomaly registers in England and Wales provided details on the outcomes of 198 pregnancies prenatally diagnosed with T13 and 538 prenatally diagnosed with T18. For each pregnancy the time from prenatal diagnosis until birth, miscarriage or termination occurred was calculated and these times were analyzed using Kaplan–Meier survival functions. Our results showed that between 12 weeks gestation and term an estimated 49% (95% CI: 29–73%) of pregnancies diagnosed with T13 and 72% (61–81%) of pregnancies diagnosed with T18 ended in a miscarriage or stillbirth. Between 18 weeks and term the proportions were 42% (18–72%) for T13 and 65% (57–79%) for T18 and between 24 weeks and term the proportions were 35% (5–70%) for T13 and 59% (49–77%) for T18. Male fetuses with T18 appeared to be more likely to be lost than female fetuses. These are the most precise estimates currently available for the risk of loss in a general population. These estimates should be useful in counseling women who are carrying an affected fetus and knowing the risk of fetal loss is essential to compare the performance of prenatal screening programs occurring in the first and second trimester.
2008 Wiley-Liss, Inc.

Key words: trisomy 13; trisomy 18; spontaneous fetal loss

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Trisomy 13 (Patau Syndrome) and Craniosynostosis

By Rafael F.M. Rosa,1,2 Rosana C.M. Rosa,2 Jos e A.M. Flores,3 Daniel T. Chazan,4 Cristine Dietrich,5 Mariana B. de Barth,5 Vanessa F. Carpes,5 Andr e C. da Cunha,5 Carla Graziadio,2,6 and Paulo R.G. Zen2,6*
1Clinical Genetics, Hospital Materno Infantil Presidente Vargas (HMIPV), RS, Brazil
2Graduate Program in Pathology, Universidade Federal de Ci^encias da Sa ude de Porto Alegre (UFCSPA), RS, Brazil
3Pediatric Radiology Service, Hospital da Crianc¸a Santo Ant^onio (HCSA)/Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), RS, Brazil
4Pediatrics Service, HMIPV, RS, Brazil
5Fetal Medicine Service, HMIPV, RS, Brazil
6Clinical Genetics, UFCSPA and CHSCPA, RS, Brazil

Received 18 March 2011; Accepted 6 April 2011

Trisomy 13 or Patau syndrome is considered a rare chromosomal disease. It was first described by Patau et al. [1960] and its prevalence ranges from 1 to 5,000–12,000 births. It is clinical characterized by multiple malformations, involving especially the face, heart, and limbs, besides a very limited survival [Jones, 2006; Pont et al., 2006; Carey, 2010]. Despite the great variability of the clinical picture presented by the syndrome, craniosysnostosis seems to be a feature uncommonly described among these patients [Mankinen and Sears, 1976; Sullivan et al., 1990; Unal et al., 2009; Aypar et al., 2011].

We report on two patients with trisomy 13 presenting craniosynostosis who show involvement of different sutures. The first was a 1-day-old Caucasian girl, the fourth child of nonconsanguineous parents aged 44 years (mother) and 26 years (father). The child was born through vaginal delivery, prematurely at 36 weeks and 3 days of gestation, weighing 2,640 g (10–50th centile), measuring 46 cm (10–50th centile), with head circumference of 32 cm (10–50th centile), and Apgar score of 5 at first minute and 6 at fifth minute. The mother had chronic hypertension and used the angiotensin-converting enzyme inhibitor captropril during the first 2 months of gestation. Later, she was changed to methyldopa. She denied the use of other drugs or smoking. She drank occasionally (beer) during the pregnancy. During the pregnancy she had an ultrasound at 36 weeks, which showed the fetus had a keel shaped skull (trigonocephaly) (Fig. 1), long bones at 10th centile, and bilateral pyelocalicial dilatation. This last feature was confirmed postnatally through an abdominal ultrasound.

Onphysical exam, the proposita presented with a keel shape skull (trigonocephaly); upslanting palpebral fissures; broad nose; anteverted nares; micrognathia; small, dysplastic, and low set ears; and postaxial polydactyly of the right hand. The images of the patient at age of 16 days can be seen in Figure 2. Skull radiographies confirmed the finding of premature closure of the metopic suture. Ophthalmologic assessment disclosed a bilateral cataract. The echocardiographic study showed a heart deviatedto the right presenting a small atrial septal defect of ostium secundum type and a tinny patent ductus arteriosus. Karyotype with GTG-Banding showed 47,XX,þ13[15]. The child developed seizures and episodes of apnea and cyanosis, and died at 20 days of life.

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Dia inesquecível - 09/Março/2012

Dia 09/03/2012 foi um dia inesquecível. Em primeiro lugar, porque era o aniversário de meu primeiro filho, Enzo. Em segundo e não menos importante, porque foi o dia em que Deus atendeu a um de meus pedidos: trazer Nina do hospital para casa.

Neste dia não celebramos somente a manutenção de Deus por mais um ano de vida completo de Enzo. Celebramos também o carinho e amor de Deus, que nos proporcionou dias maravilhosos com Nina em casa. Este foi somente o primeiro daqueles dias. Obrigado Jesus Cristo!

Nunca perca as esperanças

Uma história de inspiração sobre Kingston James, um lindo menino que nasceu com trissomia do cromossomo 13. Disseram a seus pais que ele não viveria mais que um mês. Milhares de pessoas no mundo todo tem orado por ele, por um milagre. Ele comemorou seu primeiro ano de vida em 27 de agosto de 2011.

A música que acompanha o vídeo é "Never give up hope", escrita por Victor Whitmore, pai de Kingston.

Variable Expressivity in Patau Syndrome is Not All Related to Trisomy 13 Mosaicism

By Hui-Fang Hsu1 and Jia-Woei Hou
Department of Pediatrics, Chang Gung Children’s Hospital, Taoyuan, Taiwan
Chang Gung Institute of Technology, Taoyuan, Taiwan
Received 17 April 2006; Accepted 13 March 2007

Patau syndrome (trisomy 13) is very rare in live-born babies. Individuals with this chromosomal syndrome have a short lifespan and are rarely seen beyond infancy. This study is aimed at the clinical spectrum, natural history, and survival of patients with trisomy 13. We reviewed the detailed data of 13 Patau syndrome live-born babies. Among them two individuals were delivered from continuation of pregnancy even after prenatal diagnosis. The remaining 11 patients were born to younger mothers who did not undergo amniocentesis because no major anomalies except for cleft lip/palate were found on prenatal sonograms. The common features of Patau syndrome including the clinical triad (microphthalmia, cleft lip/palate, and polydactyly) and non-cyanotic heart defects were always found in our series. However, certain serious central defects (holoprosencephaly, omphalocele, and single umbilical artery), which are easily recognized from prenatal sonogram, occurred less frequently than those stated in the literature. The median survival time was 95 days and was longer than that previously reported. There were two infants with trisomic mosaicism with different outcomes in both clinical spectrum and survival. Otherwise, we also found the increased recurrence risks of aneuploidy in two individuals, and the longest survivor (84 months) of nonmosaic trisomy 13 in Taiwan. We thus suggest that longterm survival in our series is strongly correlated with different expressivity after prenatal selection, in addition to cytogenetic mosaicism. Less associated anomalies such as polyhydramnios, oligohydramnios, intrauterine growth retardation, single umbilical artery, eye defects, holoprosencephaly, omphalocele, and polycystic kidney may contribute to their clinical courses. 2007 Wiley-Liss, Inc.

Key words: Patau syndrome; trisomy 13; recurrent aneuploidy; mosaicism; long-term survival

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Patau syndrome with a long survival: a case report

By: A.C. Duarte, A.I.C. Menezes, E.S. Devens, J.M. Roth, G.L. Garcias and M.G. Martino-Roth

Genetics and Molecular Research 3 (2): 288-292 (2004)

ABSTRACT

Trisomy 13 is a clinically severe entity; 85% of the patients do not survive beyond one year, and most children die before completing six months of age. We report a female child, 28 months old, white, the fourth child of a non-consanguineous couple, who presented trisomy 13. The child was born at term, from a vaginal delivery, weighing 2600 g. At birth, she was cyanotic, icteric, spastic, and cried weakly. The initial clinical examination detected polydactyly in the left hand, congenital clubfoot and convex soles, ocular hypertelorism, a low nasal bridge, numerous hemangiomas distributed throughout the body, cardiomegaly, and perimembranous inter-ventricular communication. There was no cleft lip or palate. On physical examination at 18 months old, the child weighed 6,900 g, had a cephalic perimeter of 41 cm, a thoracic perimeter of 43 cm and was 76 cm tall. At 28 months, she weighed 10,760 g and was 88.5 cm tall. Neuropsychomotor development retardation was evident from birth and, according to the psychologist and the social assistant of APAE (Handicapped Parents and Friends Association) in Canguçu, Rio Grande do Sul, there was a noticeable improvement after physiotherapy and recreational sessions.

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Can rationing possibly be rational?

2011 Canadian Medical Association or its licensors

CMAJ 2011. DOI:10.1503/cmaj.109-3932

Annie Farlow was just short of three months old when she died in an Ontario hospital of what her parents believe might have been a treatable respiratory condition.

Born with the chromosome disorder Trisomy 13, Annie had little chance of surviving to her teens, but her parents, Barbara and Tim Farlow, took comfort in the hospital’s assurance that her disorder wouldn’t preclude her from receiving the same level of care as any other child with a medical condition.

But months after Annie’s death, the Farlows discovered that physicians had not initiated emergency resuscitation measures with the same alacrity as in other cases. They also learned that a physician had placed a “do not resuscitate” order on Annie’s chart without their consent. Subsequently, their daughter received an undisclosed quantity of narcotics that, in their opinion, may have caused her “unexplained, rapid” decline.

The circumstances surrounding Annie’s death have the Farlows asking questions that plague Canadian patient advocates, health care workers, ethicists and policy-makers faced with a growing scarcity of resources: When is it appropriate to limit or withdraw potentially beneficial treatment? How should decisions be made? Who should make them?

“I never took the position that my daughter had a right to any and all treatments, but the unilateral decisions we believe the doctors made should have been made transparently. We have a right to know and appeal the limits of the system and be provided with whatever care is possible within its confines,” Barbara Farlow says. “Not only do I believe my daughter was denied a chance to prolong her life, the secrecy in which decisions seem to have been made also meant she was denied timely palliative care, and she suffered greatly at the end.”

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You can also see this article at cmaj.ca

Aprenda sobre a trissomia do cromossomo 13 - Síndrome de Patau (Vídeo)

Este vídeo é uma coleção de fotos de crianças com trissomia do cromossomo 13. Assista e aprenda um pouco mais sobre este desarranjo genético.


Visite www.livingwithtrisomy13.org

Crianças sem igual, amor sobrenatural

Não existe uma pegada tão pequena que não deixe sua marca neste mundo. 

A singularidade de cada uma das crianças deste vídeo não as impediu de receber o que existe de mais precioso neste mundo: o amor. 

Natural Outcome of Trisomy 13, Trisomy 18, and Triploidy After Prenatal Diagnosis

Introduction

Trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome) are, along with trisomy 21 (Down syndrome), the most common autosomal aneuploidies in the newborn, with a prevalence at birth of between one in 3,000 and one in 15,000 [Smith, 1964; Carter et al., 1985; Baty et al., 1994; Hasslod and Hunt, 2001].

Triploidy belongs to the polyploid types, and is estimated to occur in 1–2% of recognized human conceptuses. Most pregnancies with triploidy, however, are aborted spontaneously in early gestation so that the prevalence at birth of triploidy is rare: approximately one in 50,000 newborns [Doshi et al., 1983; McFadden and Kalousek, 1991].

All these chromosomal abnormalities belong to disorders which are compatible with life, but which are also associated with a high rate of spontaneous abortion, intrauterine death, and a short life span. [O’Connor, 2008].

Over the last 30 years, prenatal diagnosis of these disorders has improved due to the increasing use of fetal ultrasound screening methods in the first and second trimesters, and invasive diagnostic methods such as amniocenteses. In Austria, as in many other countries, parents are given the opportunity to terminate a pregnancy (artificially induced abortion) if a severe fetal disorder has been diagnosed. Only a few parents, therefore, decide to continue with a pregnancy after a prenatal diagnosis of trisomy 13, trisomy 18, or triploidy.

[...]


The aim of this study was to analyze the outcome of continued pregnancies after prenatal chromosomal diagnosis of trisomy 13, trisomy 18, or triploidy. These new data are aimed at improving the consulting process for parents who are confronted with prenatal diagnoses of these chromosomal abnormalities.

Nina faleceu: preparados, mas despreparados - Carta de notícias de 25/04/2012

Como família Carreiro Zambelli, o mês de março de 2012 foi o mais singular de nossas vidas. Nina, nossa filha, foi a chave-mestra desta história. “Nascida” no dia 27 de fevereiro, ficou conosco até dia 26 de março, quando Deus decidiu levá-la para Si.

Com exatidão, somente Deus é quem sabe o tempo de cada homem e mulher que habita, habitou e habitará este lugar. Neste planeta somos todos como brinquedos de corda, com começo e fim, não somos imortais. Nina era como uma uma linda bailarina de uma rara caixinha de música, mas que tinha pouca corda. Nós sabíamos disso, mas não queríamos que a música nem a dança acabassem.

Por termos estudado bastante sobre a síndrome de Patau, nós tínhamos uma boa expectativa sobre o que esperar de nossa filha. Conhecíamos relativamente bem o prognóstico, tínhamos acesso a dados científicos e estávamos acompanhados de bons profissionais. Apesar deste preparo, ainda estávamos despreparados para deixá-la partir. Não posso afirmar com plena segurança o que sentíamos, mas sem medo de errar, parte era porque nenhum pai ou mãe gostaria de ver seu filho ou filha deixando este mundo primeiro do que eles.

A ida de Nina foi mais um item da história da provisão de Deus. Ela entrou em falência quando estávamos numa rotineira consulta médica. As segundas-feiras depois do almoço era um tempo reservado especialmente para isso. Quando o eminente fim começou, havia um profissional para nos dizer o que estava acontecendo e não precisamos passar por aquele momento sem saber como proceder. Dirigimo-nos para o hospital, onde cerca de 3hrs depois de nossa chegada, ela partiu; seu coração não mais bateu, uma lágrima desceu.

Claro que esta foi uma das experiências mais expressivas que vivemos em toda nossa vida. Sabemos também que isso não ficou somente com a gente. Avós, irmãos na fé e muitos amigos sofreram juntos. Recebemos centenas de mensagens de apoio, dezenas de outras que, por causa dessa experiência, revia seu relacionamento com Deus. Muitas destas pessoas nós nunca conhecemos pessoalmente. Tenham certeza de que somos muitíssimos gratos a Deus por cada um que participou conosco desta história, que de alguma forma, consolou e nos motivou a continuar na trilha correta; obrigado.

O tempo, usado de forma correta, ajuda-nos a superar a saudade que sentimos de nossa pequena Nina. As promessas de Deus são fundamento sólido para descansarmos. Como é gostoso saber que um dia poderemos desfrutar da eterna presença do Criador juntos de uma forma que nenhuma palavra é capaz de descrever: nem o mais belo poema, nem mesmo a mais linda canção ou paisagem.

Sim, somos pessoas com fé. Confesso que não tenho fé suficiente para ignorar minhas experiências e especialmente as Palavras das Escrituras Sagradas. Nosso maior desejo é sermos fiéis a Ele, sabendo que existe uma inevitável consequência por isso: a felicidade: Como são felizes os que obedecem aos seus estatutos e de todo o coração o buscam! (Salmo 1:2 NVI)

Kia, uma decisão consciente de seus pais

O vídeo abaixo, junto à bela canção, mostra algumas fotos de uma família que não desistiu de seu bebê, Kia. Orientados por Deus, estavam bem cientes a respeito de Quem tem o controle da vida e da morte.

A vida de Kia não foi medida em anos, mas em momentos.

Sentimos muita falta de Kia, mas não desistiríamos de tudo o que temos passado por nada.

Birth History, Physical Characteristics, and Medical Conditions in Long-Term Survivors With Full Trisomy 13

Por Deborah Bruns
Department of Educational Psychology and Special Education, Southern Illinois University Carbondale, Carbondale, Illinois
Received 7 April 2011; Accepted 29 July 2011

The purpose of the study is to provide data about long-term survivors with full trisomy 13 (t13). Mothers of 30 long-term survivors with full t13 completed an online survey. Survey data were downloaded into an SPSS database. Descriptive statistics were used to analyze survey data. Tracking Rare Incidence Syndrome (TRIS) Survey data on survival, birth information including maternal and paternal age at conception, physical characteristics, and medical conditions were compared. Data indicate longer mean survival rates (48.4 months for those living at the time of data collection, 40.8 months for those who died prior) than described in the literature. Means for gestations age, birth weight, and lengthare 38.11 weeks, 2,789.34 g and 48.45 cm, respectively. Long-term survivors presented with syndromerelated physical characteristics (e.g., low-set ears, cleft lip and palate) and medical conditions (e.g., ventricular septal defect (VSD), feeding difficulties). We conclude that data indicate longer survival and a range in birth information (gestational age, birth weight, and length) along with presence of common presenting physical characteristics and medical conditions of long-term survivors with full t13. (Leia mais / Keep reading it.)

Patau Syndrome: A Case Report

Aijaz Nanjiani, M.D.

Ashgar Hossain, M.D.

Bergen Regional Medical Center, Paramus, NJ

Nahla Mahgoub, M.D.

Beth Israel Medical Center,

New York, NY

SIR: Patau syndrome is a congenital disorder which was reported by Dr. Klaus Patau in 1960.1 The syndrome is caused by presence of an extra copy of chromosome 13. Other changes in chromosome 13, such as translocation, can also result in the characteristics classified as Patau syndrome. The syndrome causes serious physical and mental abnormalities, including neurological impairment, structural facial defects, heart defects, and mental retardation.

The incidence of Patau syndrome is approximately one per 12,000 live births.2–4 The median survival age for children with the syndrome is 2.5 days. The most common cause of death is cardiopulmonary complications. Forty-five percent of the patients die within the first month of life and 70% die by 1 year of age. Survival to adulthood is extremely rare.

Case Report

We would like to report a 51-year old Caucasian woman with Patau syndrome. Her chromosomal analysis showed partial translocation of chromosome 13 (unbalanced rearrangement between chromosome 13 and chromosome 14). 

She had had 17 siblings in all. Eight of them died within the first few weeks of life. Another five died between the ages of 10 and 34 as a result of the medical complications of the syndrome; these siblings had mental retardation and psychosis. One living sibling, a 30-year-old man, suffered from mental retardation and psychosis. Three other siblings, two men and one woman, had no chromosomal abnormalities and are healthy.

The patient was born at full term with six toes on each foot, a small head, small eyes, low-set ears, and a cleft lip. Although all of her developmental milestones were delayed, she graduated from a special education high school. Her Wechsler Intelligence Scale for Children at 4 years old showed an IQ of 61 and moderate mental retardation. Her Wechsler Adult Intelligence Scale (WAIS) at 18 years old showed an IQ of 74 and educatable mental retardation while Rorschach testing showed severe immaturity. Her WAIS at 34 years old showed an IQ of 72 and borderline intellectual capabilities. The Halstead-Reitan Neurophysiological Battery showed serious neurological impairment. Her EEG showed complex partial seizures, and her computed tomography (CT) scan showed blunting of the frontal horns of the ventricular system.

Comment

What makes this case noteworthy, apart from the rarity of the syndrome and survival to adulthood, is the evolution of the psychosis, which is not a feature of Patau syndrome. The patient started to develop auditory hallucinations at the age of 15, for which she had multiple admissions and received different antipsychotic medications.

She started to decompensate after her antipsychotic medication was changed because of questionable seizures. She presented in the emergency room with agitated behavior. She was observed conversing with God, the devil, and her deceased siblings. She was delusional; she believed that people were taking her strength. The patient was medicated and admitted to the psychiatric floor. She was put on a regimen of valproic acid, 500 mg twice daily, aripiprazole, 20 mg daily, and olanzapine, 20 mg daily.

She was discharged to an assisted living facility after she stabilized. Since then, she has not had any hospitalization.

References

1. Patau K, Smith DW, Therman E, et al: Multiple congenital anomaly caused by an extra autosome. Lancet 1960; 1:790

2. Baty BJ, Brent L, Cary JC, et al: Natural history of trisomy 18 and trisomy 13, I: growth, physical assessment, medical histories, survival, and recurrence risk. Am J Med Genet 1994; 49:175–187

3. Baty BJ, Brent L, Cary JC, et al: Natural history of trisomy 18 and trisomy 13, II: psychomotor development. Am J Med Genet 1994; 49:189–194

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