scholarly journals Down syndrome with congenital hydrocephalus: case report

2006 ◽  
Vol 64 (3b) ◽  
pp. 869-871 ◽  
Author(s):  
Cassiano Mateus Forcelini ◽  
Adroaldo Baseggio Mallmann ◽  
Paulo Sérgio Crusius ◽  
Cláudio Albano Seibert ◽  
Marcelo Ughini Crusius ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Mental Retardation ◽  
Case Report ◽  
Ventriculoperitoneal Shunt ◽  
Head Circumference ◽  
Genetic Disorder ◽  
Congenital Hydrocephalus ◽  
Dysmorphic Features ◽  
Abnormal Increase ◽  
Male Neonate

Down syndrome is the most frequent genetic cause of mental retardation. Although usually presenting dysmorphic features and organ malformations, it is rarely associated with congenital hydrocephalus. The case of male neonate whose hydrocephalus was detected since the pregnancy and was discovered to have the syndrome at birth is reported. Chromosomal analysis confirmed the genetic disorder, and hydrocephalus was treated with ventriculoperitoneal shunt because of abnormal increase of head circumference. The patient has been accompanied and his development is considered normal when compared to the expected for those affected by the syndrome.

scholarly journals Mind the Gap: Acetazolamide Prolonged Periods without Paralysis in a Girl with Andersen-Tawil Syndrome

2021 ◽  
pp. 515-520
Author(s):  
Nina Žakelj ◽  
Damjan Osredkar ◽  
Nataša Šuštar
Keyword(s):  
Case Report ◽  
Social Engagement ◽  
Social Life ◽  
Ventricular Arrhythmias ◽  
Genetic Disorder ◽  
Daily Activities ◽  
Muscle Paralysis ◽  
Off Label ◽  
Dysmorphic Features ◽  
Frequent Episodes

We present a case report of a 13-year-old girl with Andersen-Tawil Syndrome (ATS), a rare genetic disorder which is characterized by dysmorphic features, ventricular arrhythmias, and frequent episodes of muscle paralysis that interfere with daily activities and social engagement. After the introduction of off-label treatment with acetazolamide periods without paralysis lengthened, our patient became more independent of the help of her parents and required a wheelchair less frequently, thus improving her social life. Based on our experience, we recommend a trial of acetazolamide in patients with ATS.

scholarly journals Turkish cases of Mabry Syndrome with a novel homozygous mutation in PGAP2 gene

2021 ◽  
Author(s):  
Ayşe Kartal ◽  
Sandeep Jaiswar
Keyword(s):  
Alkaline Phosphatase ◽  
Mental Retardation ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Disorder ◽  
Missense Variant ◽  
Homozygous Mutation ◽  
Elevated Alkaline Phosphatase ◽  
Dysmorphic Features ◽  
Whole Exome

Abstract Hyperphosphatasia with mental retardation syndrome is a genetic disorder. We report two siblings aged three years and fourteen years who were investigated for global development delays, seizures and dysmorphic features. A novel missense variant, c.1003G>A (p. Ala335 Thr chr11.3,846,572 NM_001256236.1), in PGAP2 gene was identified using whole-exome sequencing. We highlight the significance of elevated alkaline phosphatase in patients with certain dysmorphic features, can lead to the diagnosis of hyperphosphatasia with mental retardation syndrome using exome sequencing.

scholarly journals Síndrome de down: facilidades, dificuldades e apoio encontrado pelos pais / Down syndrome: facilities, dificulties and support found by parents

2017 ◽  
Vol 7 (2) ◽  
pp. 23-29
Author(s):  
Mayra Cristina Martins dos Santos ◽  
Ana Camila Batista ◽  
Ivandira Anselmo Ribeiro Simões
Keyword(s):  
Down Syndrome ◽  
Mental Retardation ◽  
Exploratory Study ◽  
Social Representations ◽  
Genetic Disorder ◽  
Structured Interview ◽  
Chromosome 21 ◽  
Professional Characteristics ◽  
Qualitative Descriptive ◽  
Answering Questions

Introdução: A síndrome de Down (SD) é um distúrbio genético, devido à presença adicional de um cromossomo 21 nas células de seu portador e que causa um retardo mental de vários graus. Objetivos: Identificar quais as dificuldades e facilidades que os pais tiveram na criação de seus filhos com a SD e conhecer que tipos de apoio os pais dos portadores da SD receberam. Métodos: Pesquisa do tipo qualitativa, descritiva e exploratória. Para a análise e interpretação dos dados utilizou-se a técnica do Discurso do Sujeito Coletivo, que tem como base as Teorias das Representações Sociais. O local do estudo foi na APAE de Itajubá. A amostragem foi por conveniência; a amostra foi inicialmente constituída por 30 participantes que possuem filhos com a SD. No entanto, responderam à pergunta semiestruturada 14 participantes, os demais alegaram não ter interesse e estarem cansados em responder perguntas relacionadas ao tema; assim a amostra constou de 14 participantes. Os instrumentos utilizados na coleta de dados foram dois: um roteiro de entrevista semiestruturada e outro que contempla informações relacionadas à caracterização pessoal e profissional dos participantes do estudo. Resultados: As Ideias Centrais (IC) quanto à questão relacionada às facilidades foram: APAE, amigos, nenhuma e psicóloga. Quanto às dificuldades, foram: não teve, muitas dificuldades, não poder estudar em outra escola e saber até onde iria chegar. Já quanto ao apoio, foram as seguintes: APAE e comunidade. Conclusão: Observou-se que o desenvolvimento da pessoa portadora de SD está fortemente relacionado com a APAE, pois foi a própria APAE que os acolheu e os ajudou a conseguirem o que almejaram.Palavras-chave: Síndrome de down; Pais; EnfermagemABSTRACTIntroduction: The Down Syndrome (DS) is a genetic disorder characterized by the additional presence of the chromosome 21 in the patients´ cells and that causes a spectrum of mental retardation. Aims: To identify which difficulties and facilities parents have in raising their children with DS and know what kind of support the parents of DS patients received. Methods: It is a qualitative, descriptive, and exploratory study. For analysis and interpretation of the data it was used the Collective subject discourse technique, which is based on the Theory of Social Representations. The study site was the APAE of Itajubá. Sampling was purposeful; the sample was initially composed of 30 participants who have children with DS. However, only 14 participants answered the semi-structured questions, for the others claimed to have no interest and were tired of answering questions related to the topic; therefore the sample consisted of 14 participants. The instruments used in data collection were two: one set of semi-structured interview questions and another that included information related to the personal and professional characteristics of the participants. Results: The Central Ideas (CI) regarding the question related to the facilities were: APAE, friends, none, and psychologist. As for the difficulties, they were as following: none, many difficulties, not to study in another school and how far they would go. As for the support, they were: APAE and community. Conclusion: It was observed that the development of the DS carrier person is strongly related to APAE because it is the institution that welcomed them and helped them get what they longed for.Keywords: Down syndrome; Parents; Nursing

scholarly journals Laurence-Moon-Bardet-Biedl Syndrome: A case report

2019 ◽  
Vol 59 (6) ◽  
pp. 349-52
Author(s):  
Md. Mozammel Haque ◽  
Kamrunnaher Shultana ◽  
Tahmina Binte Matin ◽  
Md. Shohidul Islam Khan ◽  
Abdullah Al Baki
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Retinal Pigment ◽  
Clinical Signs ◽  
Mental Deficiency ◽  
Cone Dystrophy ◽  
Anal Atresia ◽  
Bardet Biedl Syndrome

Laurence-Moon-Bardet-Beidl syndrome is a rare ciliopathic and pleiotropic human autosomal recessive genetic disorder.1 In 1886, Laurence and Moon explained a case of a 7-year-old female with rod-cone dystrophy, hypogenitalism, mental retardation, obesity, and polydactyly. In 1920, Bardet described a 4-year-old female patient presented with rod-cone dystrophy, obesity, polydactyly (11 toes), and mental retardation.1 Two years after Bardet’s report, Biedl highlighted the complete scenario of clinical signs which includes skull abnormalities, anal atresia, mental deficiency, and gastrointestinal conflicts.1 Since these discoveries, symptoms such as obesity, hypogonadism, retinal pigment defects, psychological hindrance, and polydactylismin in several conditions as combinations, frequently in children with normal parents (cousin marriages) has been termed as Laurence-Moon-Bardet-Biedl syndrome (LMBBS).1

scholarly journals Idiopathic Gingival Hyperplasia: A Case Report with a 17-Year Followup

2011 ◽  
Vol 2011 ◽  
pp. 1-5 ◽  
Author(s):  
Bien Lai ◽  
Joseph Muenzer ◽  
Michael W. Roberts
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Developmental Delay ◽  
Genetic Disorder ◽  
Genetic Diagnosis ◽  
Gingival Hyperplasia ◽  
Dental Management ◽  
Gingival Hypertrophy ◽  
Static Encephalopathy

This is a case report of a patient with idiopathic gingival hyperplasia and an undiagnosed genetic disorder that demonstrated static encephalopathy, mental retardation, developmental delay, seizures, hypotonia, and severe gingival hypertrophy. The clinical dental management and attempts to obtain a genetic diagnosis are described.

scholarly journals Multiple superficial mucoceles on the lower lip of a patient with phenylketonuria: A case report

2021 ◽  
Author(s):  
Mahsa Alavi Namvar ◽  
Sona Rafieyan ◽  
Behzad Fathi Afkari
Keyword(s):  
Amino Acids ◽  
Mental Retardation ◽  
Case Report ◽  
Soft Tissue ◽  
Normal Population ◽  
Genetic Disorder ◽  
The Body ◽  
Mental Function ◽  
Lower Lip ◽  
Local Trauma

This article reports a 13-year-old boy with phenylketonuria and multiple superficial mucoceles on his lower lip. Phenylketonuria (PKU) is a serious and rare genetic disorder that affects the levels of amino acids such as phenylalanine in the body. If left untreated, PKU can negatively affect mental function and cause retardation. Patients with PKU receive less oral examination compared to the normal population. Mucoceles are lesions formed by the accumulation of mucous of salivary glands in soft tissue by blockage or extravasation. Local trauma has been identified as the main cause of mucoceles development. Superficial mucoceles are rare in the lower lip. These patients need close oral and maxillofacial examination to find problems, which may be related to their systemic problem. Micro-marsupialization is a conservative therapeutic approach for management of pediatric oral mucoceles. Management of trauma in patients with mental retardation is an important issue.

scholarly journals Turkish cases of Mabry Syndrome with a novel homozygous mutation in PGAP2 gene

2021 ◽  
Author(s):  
Sandeep Jaiswar ◽  
Ayşe Kartal
Keyword(s):  
Alkaline Phosphatase ◽  
Mental Retardation ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Disorder ◽  
Missense Variant ◽  
Homozygous Mutation ◽  
Elevated Alkaline Phosphatase ◽  
Dysmorphic Features ◽  
Whole Exome

Abstract Hyperphosphatasia with mental retardation syndrome is a genetic disorder. We report two siblings aged three years and fourteen years who were investigated for global development delays, seizures and dysmorphic features. A novel missense variant, c.1003G>A (p. Ala335 Thr chr11.3,846,572 NM_001256236.1), in PGAP2 gene was identified using whole-exome sequencing. We highlight the significance of elevated alkaline phosphatase in patients with certain dysmorphic features, can lead to the diagnosis of hyperphosphatasia with mental retardation syndrome using exome sequencing.

scholarly journals Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Madan Gopal Choudhary ◽  
Prashant Babaji ◽  
Nitin Sharma ◽  
Dilip Dhamankar ◽  
Gururaj Naregal ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Facial Dysmorphism ◽  
Severe Mental Retardation ◽  
Renal Anomalies ◽  
Cardiac Defects ◽  
Congenital Cardiac Defects ◽  
Male Neonate ◽  
Emanuel Syndrome ◽  
Distinctive Phenotype

Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Here, we report a male neonate, with the classical features of Emanuel syndrome.

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