Asunto(s)
Síndrome del Maullido del Gato , Humanos , Proyectos Piloto , Síndrome del Maullido del Gato/complicaciones , Síndrome del Maullido del Gato/fisiopatología , Síndrome del Maullido del Gato/diagnóstico , Masculino , Femenino , Niño , Preescolar , Trastornos del Sueño-Vigilia/etiología , Trastornos del Sueño-Vigilia/fisiopatología , Trastornos del Sueño-Vigilia/diagnóstico , Adolescente , Polisomnografía , Sueño/fisiologíaRESUMEN
Posterior hypothalamic-deep brain stimulation (pHyp-DBS) has been reported as a successful treatment for reducing refractory aggressive behaviors in patients with distinct primary diagnoses. Here, we report on a patient with cri du chat syndrome presenting severe self-injury and aggressive behaviors toward others, who was treated with pHyp-DBS. Positive results were observed at long-term follow-up in aggressive behavior and quality of life. Intraoperative microdialysis and imaging connectomics analysis were performed to investigate possible mechanisms of action. Our results suggest the involvement of limbic and motor areas and alterations in main neurotransmitter levels in the targeted area that are associated with positive results following treatment.
Asunto(s)
Conectoma , Síndrome del Maullido del Gato , Estimulación Encefálica Profunda , Humanos , Síndrome del Maullido del Gato/complicaciones , Estudios de Seguimiento , Estimulación Encefálica Profunda/métodos , Calidad de Vida , MicrodiálisisRESUMEN
A tubo-ovarian abscess is an infection that occurs as a sequela of pelvic inflammatory disease. There is no reported association between a tubo-ovarian abscess and cri du chat syndrome in the medical literature. Herein, we report the case of a 44-year-old woman with cri du chat syndrome who was subsequently diagnosed with a tubo-ovarian abscess. After emergent laparotomy, simple total hysterectomy, and bilateral adnexectomy, the patient was discharged 13 days postoperatively without complications.
Asunto(s)
Síndrome del Maullido del Gato , Absceso/complicaciones , Absceso/diagnóstico , Adulto , Síndrome del Maullido del Gato/complicaciones , Femenino , Humanos , Histerectomía/efectos adversosAsunto(s)
Síndrome del Maullido del Gato/complicaciones , Distonía/genética , Niño , Femenino , HumanosRESUMEN
Background: Cri du Chat syndrome (CdC) is a rare disease caused by the deletion on the short arm of the chromosome 5, with an incidence of 1:15,000 to 1:50,000 live-born infants. No study at international level has assessed the costs, Quality of Life (QoL) and Disability through standardized quantitative tools. The aim is to estimate economic costs related to CdC from a societal perspective, to assess the QoL and Disability in patients with CdC along with their caregivers in Italy. Methods: A cross-sectional study of patients with Cri du Chat in Italy was carried out. A cost of illness approach from a societal perspective was used to estimate cost, and a micro-costing method was adopted. The QoL was measured with EuroQol 5-domain (EQ-5D) questionnaire and Disability by using World Health Organization Disability Assessment Schedule 36 item (WHODAS 2.0). Results: A total of 76 questionnaires were collected from caregivers taking care of 40 adult patients and 36 minor patients. All patients need a carer and the principal caregiver is commonly informal carer or a family member (93%). The EQ-5D VAS score for patients is 65.5 (SD = 22.4) out of 100; while the most important compromised areas of QoL are usual activities and self-care. The overall WHODAS 2.0 score is 65% (0 = no disability; 100 = full disability). The average annual cost of a patient with Cri du Chat in our population is 87,856.24; the main cost item of patients with Cri du Chat syndrome is informal care (i.e., 76,981.69 yearly) since it constitutes the 87% of total costs. Results highlight the burden of CdC in terms of its impact on QoL and Disability for patients and caregivers in Italy, with a score much lower than that of general population. The disease is associated with considerable costs of informal care. Conclusions: Cri du Chat syndrome was found to be linked with a significant socioeconomic impact which is dominated by direct non-healthcare informal costs.
Asunto(s)
Síndrome del Maullido del Gato , Calidad de Vida , Adulto , Costo de Enfermedad , Síndrome del Maullido del Gato/complicaciones , Síndrome del Maullido del Gato/economía , Estudios Transversales , Femenino , Costos de la Atención en Salud , Humanos , Italia/epidemiología , MasculinoRESUMEN
3-methylglutaconic aciduria includes a heterogeneous group of inborn errors of metabolism. The disease may have various clinical presentations, as can duplication 5q. We present the case of a 13-year-old boy with 3-methylglutaconic aciduria and duplication 5q. The main symptoms included myopathy, weakness, spastic paresis intensified mostly in the lower limbs, and intellectual disability. Additional studies showed elevated levels of 3-methylglutaconic acid in urine and ammonia in plasma. A duplication in region 5q23.3q31.1 was found in array-based comparative genomic hybridization. Next-generation sequencing did not reveal any pathological mutation. On the basis of the clinical picture and the results of biochemical and genetic tests 3-methylglutaconic aciduria type IV with duplication 5q was diagnosed.
Asunto(s)
Anomalías Múltiples/diagnóstico , Síndrome del Maullido del Gato/complicaciones , Síndrome del Maullido del Gato/diagnóstico , Errores Innatos del Metabolismo/complicaciones , Errores Innatos del Metabolismo/diagnóstico , Trisomía/diagnóstico , Anomalías Múltiples/sangre , Anomalías Múltiples/orina , Adolescente , Amoníaco/sangre , Cromosomas Humanos Par 5/genética , Hibridación Genómica Comparativa , Síndrome del Maullido del Gato/genética , Glutaratos/orina , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Masculino , Errores Innatos del Metabolismo/sangre , Errores Innatos del Metabolismo/orina , Enfermedades Raras/sangre , Enfermedades Raras/complicaciones , Enfermedades Raras/diagnóstico , Enfermedades Raras/orina , Trisomía/genéticaRESUMEN
Ebstein anomaly is a congenital heart defect with a low prevalence and high mortality in the early stages of life. In medical literature, there is no reported association between Ebstein anomaly and cri du chat syndrome. Here, we report the case of a full-term newborn with a low weight for his age and who had a prenatal diagnosis of Ebstein anomaly and a postnatal diagnosis of cri du chat syndrome and 20q duplication detected on array CGH. The patient required medical treatment with inotropic support, high-frequency ventilation and nitric oxide, with an adequate response. Surgical intervention was not needed.
Asunto(s)
Deleción Cromosómica , Duplicación Cromosómica , Cromosomas Humanos Par 20 , Síndrome del Maullido del Gato , Anomalía de Ebstein , Manejo de la Vía Aérea/métodos , Cardiotónicos/uso terapéutico , Cromosomas Humanos Par 20/genética , Síndrome del Maullido del Gato/complicaciones , Síndrome del Maullido del Gato/diagnóstico , Síndrome del Maullido del Gato/genética , Diagnóstico Diferencial , Anomalía de Ebstein/complicaciones , Anomalía de Ebstein/genética , Anomalía de Ebstein/fisiopatología , Anomalía de Ebstein/terapia , Pruebas Genéticas/métodos , Humanos , Recién Nacido , Masculino , Tamizaje Neonatal/métodos , Óxido Nítrico/uso terapéutico , Manejo de Atención al Paciente , Diagnóstico Prenatal/métodos , Enfermedades RarasRESUMEN
Isolated fetal ascites and cri-du-chat syndrome (CdCS; OMIM #123450) are two very rare conditions that, to our best knowledge, have never been reported together. Here, we describe a case of isolated fetal ascites detected in the first trimester ultrasound, with no other remarkable signs. After an extensive work-up (fetal ultrasound, serologies, Coombs test, and NIPT), an amniocentesis was performed and revealed an abnormal karyotype of 46,XX,del(5)(p15.2), characteristic of CdCS. We hypothesize that isolated fetal ascites has to be considered an antenatal ultrasonographic marker for CdCS, a finding that should be confirmed in further cases.
Asunto(s)
Ascitis/diagnóstico por imagen , Ascitis/embriología , Síndrome del Maullido del Gato/diagnóstico por imagen , Síndrome del Maullido del Gato/embriología , Ultrasonografía Prenatal/métodos , Aborto Eugénico , Adulto , Amniocentesis , Ascitis/complicaciones , Síndrome del Maullido del Gato/complicaciones , Femenino , Humanos , EmbarazoRESUMEN
The purpose of this study is to treat dysphagia in a newborn baby with cri du chat syndrome using an oral stimulation intervention and to examine its effects. The subject of this study was a baby born 2 weeks prematurely. Since birth, his oxygen saturation (SaO2) decreased while feeding, and he had difficulty with mouth feeding. Thus, an NG feeding tube was inserted, and dysphagia treatment was initiated on the sixth day after birth. A baseline phase and an intervention phase were performed using an AB design. The oral stimulation intervention was not performed in the baseline phase, as only nonnutritive sucking training using a rubber pacifier was used during the baseline phase. During the intervention phase, nonnutritive sucking training and oral stimulation intervention were simultaneously conducted. After the intervention period, daily oral milk intake and intake per feeding of the subject noticeably increased. The oxygen saturation while feeding rose over 90% on average, and the baby did not present with hypoxia. The oral stimulation intervention provided prior to feeding resulted in highly positive effects, including induced normal development of the baby, stimulation of his transition from the NG feeding tube to bottle feeding, increased oxygen saturation, and a shortened hospital stay.
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Síndrome del Maullido del Gato/rehabilitación , Trastornos de Deglución/rehabilitación , Enfermedades del Prematuro/rehabilitación , Terapia Miofuncional/métodos , Síndrome del Maullido del Gato/complicaciones , Síndrome del Maullido del Gato/psicología , Trastornos de Deglución/etiología , Humanos , Recién Nacido , Recien Nacido Prematuro , Enfermedades del Prematuro/psicología , Masculino , Conducta en la LactanciaRESUMEN
BACKGROUND: Cri du Chat syndrome (CdCS) is a genetic syndrome caused by deletions in the short arm of chromosome 5. Although the main clinical features of CdCS are well known, the neurocognitive and behavioural characteristics of the phenotype are rarely described in detail in the literature. In this study, we analysed the main phenotypic features of CdCS from a parental perspective. METHOD: A questionnaire was sent to 700 Brazilian families that were registered in the Brazilian Association of CdCS. The questions involved specific domains of CdCS, such as pregnancy and birth conditions, recurrence of the disease in the family, current major health problems, and aspects of cognitive development. RESULTS: In total, 73 questionnaires were completed: 44 females and 29 males, ranging from 9.5 months old to 40 years old (mean = 13.8 years; median = 12 years). Most of the parents noticed the typical cat-like cry at birth (94.4%). The age at diagnosis of CdCS ranged from the time of birth to 180 months (mean = 14 months; median = 6 months), while one case was diagnosed during pregnancy. In all of the cases, the diagnosis of CdCS was made by G-banding karyotype analysis. In 66.2% of the cases, the parents underwent cytogenetic investigation. A total of 52.1% of the parents answered that they did not remember what the recurrence risk of CdCS was in their family. The main health problems that were reported were as follows: swallowing problems (80.3%), feeding problems (80.3%), congenital heart disease (31.5%), spine abnormalities (28.8%), and neurological symptoms (20.5%), including seizures (11%). The behavioural problems that were reported were as follows: aggressive behaviour, stereotypies, anxiety, phobias, and genital manipulation/masturbation. Neurodevelopmental delay was reported in all of the cases. Independent walking was achieved in 72.2% of the patients. Approximately 50% of the patients never presented expressive language, and most of the patients are dependent on others for their daily activities. CONCLUSIONS: The questionnaire was a pioneer initiative in the CdCS support group, and the answers used in this study can improve the health care assistance to these patients because they focus attention on the demands from a parental perspective. In addition, nearly half of the families stated that they did not remember information regarding recurrence risk, which reinforces the importance of genetic counselling follow-up and the need for the expansion of genetic services in Brazil.
Asunto(s)
Trastornos del Conocimiento/complicaciones , Síndrome del Maullido del Gato/complicaciones , Síndrome del Maullido del Gato/fisiopatología , Estado de Salud , Trastornos Mentales/complicaciones , Adolescente , Adulto , Brasil , Niño , Preescolar , Trastornos del Conocimiento/fisiopatología , Comorbilidad , Femenino , Humanos , Lactante , Masculino , Trastornos Mentales/fisiopatología , Padres , Fenotipo , Encuestas y Cuestionarios , Adulto JovenRESUMEN
El síndrome Cri du Chat tiene una incidencia de 1/15.0001/50.000 y es debido a una delección del cromosoma 5p. Los individuos afectos presentan un fenotipo especial, discapacidad intelectual, retraso del lenguaje junto con un llanto agudo característico en las primeras tapas de su vida, si bien, hay una variabilidad clínica según la extensión y localización de la delección. Es muy portante iniciar una terapia rehabilitadora precozmente ara mejorar sus capacidades de aprendizaje y comunicación y así mejorar su calidad de vida. Se presenta el caso 6 un lactante con sospecha clínica del síndrome al nacimiento confirmándose en el estudio genético. Se describen los aspectos clínicos y evolutivos más característicos del síndrome (AU)
The Cri du Chat syndrome has an incidence of 1/15,000 - 1/50,000 and is caused by a deletion of the chromosome 5p. Affected individuals have a special phenotype, intellectual disability, language delay and a characteristic acute cry in the early stages of their life, although there is a clinical variability according to the extent and location of the deletion. It is very important to begin rehabilitation therapy early to improve learning and communication skills and thus improve quality of life. We report the case of an infant with clinical suspicion of the syndrome at birth that was confirmed by genetic testing. We describe the most characteristic clinical and evolutionary aspects of the syndrome (AU)
Asunto(s)
Humanos , Masculino , Recién Nacido , Cromosomas Humanos Par 5/genética , Trastornos de los Cromosomas/complicaciones , Trastornos de los Cromosomas/genética , Síndrome del Maullido del Gato/complicaciones , Síndrome del Maullido del Gato/genética , Diagnóstico Precoz , Deleción Cromosómica , Calidad de Vida , Foramen Oval/anomalías , Anomalías Craneofaciales/genética , Hipotonía Muscular/complicacionesAsunto(s)
Aberraciones Cromosómicas , Cromosomas Humanos Par 5 , Síndrome del Maullido del Gato/complicaciones , Enfermedad de Hirschsprung/complicaciones , Colectomía/métodos , Síndrome del Maullido del Gato/genética , Pruebas Genéticas/métodos , Enfermedad de Hirschsprung/diagnóstico , Enfermedad de Hirschsprung/fisiopatología , Enfermedad de Hirschsprung/cirugía , Humanos , Recién Nacido , MasculinoRESUMEN
OBJECTIVES: To determine whether a canal wall down mastoidectomy can provide long-term benefit for children with aural stenosis. METHODS: Retrospective case series of children with congenital aural stenosis having undergone a canal wall down mastoidectomy over a twelve-year period at a tertiary children's hospital. RESULTS: Data from thirteen children who underwent a total of twenty canal wall down mastoidectomies for aural stenosis were reviewed. The mean age at surgery was 7.1 years (range, 3.3-12.3 years). All patients had genetic syndromes including Trisomy 21 (n = 7), Trisomy 21 and Pierre Robin sequence (n = 1), Angelmann (n = 1), Cri-du-chat (n = 1), Branchio-oto-renal syndrome (n = 1), Spina bifida (n = 1) and Nager syndrome (n = 1). Seven (54%) children underwent bilateral canal wall down mastoidectomies. All thirteen ears that could not be visualized preoperatively had improved ease of office examination following surgery. Only one patient required revision surgery and all canals were patent at the last clinic visit. The mean follow-up was 4.9 years. There were no cases of facial nerve injury or cerebrospinal fluid leak. CONCLUSION: Syndromic children with congenital aural stenosis with poorly pneumatized mastoids may benefit from canal wall down mastoidectomy to improve ease of office examinations.
Asunto(s)
Conducto Auditivo Externo/cirugía , Apófisis Mastoides/cirugía , Síndrome de Angelman/complicaciones , Síndrome Branquio Oto Renal/complicaciones , Niño , Preescolar , Constricción Patológica/complicaciones , Constricción Patológica/congénito , Constricción Patológica/cirugía , Síndrome del Maullido del Gato/complicaciones , Síndrome de Down/complicaciones , Conducto Auditivo Externo/anomalías , Femenino , Humanos , Masculino , Disostosis Mandibulofacial/complicaciones , Síndrome de Pierre Robin/complicaciones , Reoperación , Estudios Retrospectivos , Disrafia Espinal/complicaciones , Resultado del Tratamiento , Membrana Timpánica/cirugíaRESUMEN
BACKGROUND: Rare diseases (RD) are those that present a lower prevalence than 5 cases per 10.000 population. The main objective of this review was to study the effect on oral health in rare diseases, while the secondary objective of the study is theme upgrade. MATERIAL AND METHODS: Comparative observational case-control studies were analysed and a systematic review was conducted in PubMed. Each rare disease listed on the statistical data record of the Health Portal of the Ministry of Equality, Health and Social Policies Board of Andalusia was associated with 'oral health'. The variables studied included dental, oral mucosa and occlusion alterations, oral pathologies (caries, periodontal disease) and other alterations (mouth breathing, parafunctional habits, etc). A bias analysis of the variable caries was conducted. RESULTS: Six RD were selected through our inclusion and exclusion criteria (hypogammaglobulinemia, Rett syndrome, Marfan syndrome, Prader-Willi syndrome, cystic fibrosis and Cri du chat syndrome) in a total of 8 publications, of which four trials were classified as high risk of bias and one of them as medium risk. There were not trials with low risk of bias. CONCLUSIONS: The main statistically significant differences found by Syndrome compared to a control group were in Hypogammaglobulinemia with a greater tendency to enamel hypoplasia and dry mouth. The Rett syndrome had, as well, a greater tendency to an anterior open bite, ogival palate, bruxism, mouth breathing and tongue thrusting. Prader-Willi syndrome had a tendency of dental erosion, and Cri du chat syndrome showed a higher association to Tannerella forsythia
Asunto(s)
Humanos , Enfermedades Raras/complicaciones , Enfermedades de la Boca/epidemiología , Agammaglobulinemia/complicaciones , Hipoplasia del Esmalte Dental/epidemiología , Síndrome del Maullido del Gato/complicacionesRESUMEN
AIM: To describe temporal and spatial gait characteristics in individuals with Cri du Chat syndrome (CdCS) and to explore the effects of performing concurrent manual tasks while walking. METHODS: The gait parameters of 14 participants with CdCS (mean age 10.3, range 3-20 years) and 14 age-matched controls (mean age 10.1, range 3-20 years) were collected using the GAITRite® instrumented walkway. All participants first walked without any concurrent tasks and then performed 2 motor dual task walking conditions (pitcher and tray). RESULTS: Individuals with CdCS took more frequent, smaller steps than controls, but, on average, had a comparable gait speed. In addition, there was a significant task by group interaction. Participants decreased gait speed, decreased cadence, decreased step length, and increased% time in double limb support under dual task conditions compared to single task conditions. However, the age-matched controls altered their gait for both manual tasks, and the participants with CdCS only altered their gait for the tray task. INTERPRETATION: Although individuals with CdCS ambulate with a comparable gait speed to age-matched controls under single task conditions, they did not significantly alter their gait when carrying a pitcher with a cup of water inside, like controls. It is not clear whether or not individuals with CdCS had difficulty attending to task demands or had difficulty modifying their gait.
Asunto(s)
Síndrome del Maullido del Gato/fisiopatología , Trastornos Neurológicos de la Marcha/fisiopatología , Análisis y Desempeño de Tareas , Velocidad al Caminar , Adolescente , Niño , Preescolar , Síndrome del Maullido del Gato/complicaciones , Extremidades , Femenino , Trastornos Neurológicos de la Marcha/etiología , Humanos , Masculino , Análisis Espacio-Temporal , Adulto JovenRESUMEN
Protein-energy malnutrition (PEM) is poorly reported in cri du chat syndrome (CDCS) (OMIM #123450), a genetic disease that causes developmental delay and global growth retardation. The objective was to determine the nutritional status at different ages in children with CDCS and factors associated with PEM. A questionnaire focused on growth and nutritional care was sent to 190 families. Among 36 analyzable questionnaires, growth and nutritional indices compatible with PEM occurred in 47% of patients: 19% before 6 months of age, 24% between 6-12 months and 34% after 12 months. Eight patients received enteral feeding. Speech therapy for swallowing education was performed more often in malnourished children (63% vs. 22%, P < 0.02). PEM is frequent and occurs early in this disease, requiring closed nutritional monitoring.
Asunto(s)
Síndrome del Maullido del Gato/fisiopatología , Estado Nutricional , Desnutrición Proteico-Calórica/fisiopatología , Preescolar , Síndrome del Maullido del Gato/complicaciones , Síndrome del Maullido del Gato/genética , Femenino , Humanos , Lactante , Masculino , Desnutrición Proteico-Calórica/complicaciones , Desnutrición Proteico-Calórica/genética , Encuestas y CuestionariosRESUMEN
Cri du chat syndrome is an autosomal disorder. Because it affects few people in the population it is considered a rare disease, yet it is one of the most common autosomal chromosomal syndromes in humans. It entails pathognomonic alterations that affect the craniofacial and oral anatomy of patients. The aim of this study is to review these craniofacial and oral abnormalities in patients with Cri du chat syndrome. The PubMed Medline database was searched using two different strategies. First, we used "Dentistry" and "Cri du chat" as keywords; second, we used "Cri du chat" and "craniofacial." Seven articles in which the main orofacial and cranio-skeletal characteristics of patients with Cri du chat syndrome were described were selected according to the inclusion and exclusion criteria. Cri du Chat syndrome entails pathognomonic characteristics in the craniofacial area (epicanthus, short philtrum, and wide nasal bridge), the oral area (mandibular retrognathism and anterior open bite) and the cranial region (alterations at the cranial base angle and a small upper airway). However, more studies on larger samples are needed to specify the orofacial and craniofacial characteristics of patients with Cri du chat syndrome more accurately. Clin. Anat. 29:555-560, 2016. © 2015 Wiley Periodicals, Inc.
Asunto(s)
Síndrome del Maullido del Gato/patología , Boca/patología , Cráneo/patología , Anomalías Craneofaciales/etiología , Síndrome del Maullido del Gato/complicaciones , HumanosRESUMEN
Cri-du-chat syndrome (CdCs) is caused by deletion in the short arm of chromosome 5, occurring in 1:15,000 to 1:50,000 live births. Recent genotype-phenotype correlation studies show the importance of 5p15.2 for facial dysmorphism and intellectual disability, and 5p15.3 for cat-like cry. Numerous reports have shown the relative rarity of epilepsy in this syndrome. We identified two cases with epilepsy in CdCs, and described their electroclinical and cytogenetic features. The first case was a 25-year-old female who had axial tonic seizures with flexion of the neck and shoulders. Interictal EEG was characterized by generalized spike-and-slow-wave complexes. Her ictal EEG started with diffuse electrodecremental pattern, followed by alpha-range activities. High-resolution banding analysis of chromosomes revealed a terminal deletion of 5p14.1. The second case was a 30-year-old female who had startle epilepsy with falling. Interictal EEG demonstrated generalized spike and slow waves. High-resolution banding analysis revealed a terminal deletion of 5p13.3 with additional chromosomal material of unknown origin. Based on the cases presented here, as well as those previously reported, the relationship between epilepsy and CdCs is discussed. The data suggests that although CdCs patients rarely suffer from epileptic seizures, the seizures may vary in type.