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2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(12): 1237-1240, 2021 Dec 10.
Artigo em Chinês | MEDLINE | ID: mdl-34839515

RESUMO

OBJECTIVE: To analyze the clinical features and molecular genetic etiology of a patient with 3-M (Miller McKusick Malvaux) syndrome from a consanguineous parentage family, and to explore the relationship between genotype and phenotype. METHODS: After the consent of the proband's guardian and the informed consent form was signed, DNA was extracted from peripheral blood samples of the proband and her parents for chromosome microarray analysis, medical exome sequencing and parental verification. RESULTS: A total of 247.1 Mb loss of heterozygosity was found in the proband with a CytoScan 750K array. Furthermore, a homozygous variant (c.458dupG) of the OBSL1 gene was found using high-throughput sequencing, which was inherited from her parents. Based on the criteria and guidelines of genetic variation of American College of Medical Genetics and Genomics, the variant is predicted to be pathogenic (PVS1+PM2+PP4), and only one case was reported previously. CONCLUSION: Spina bifida occulta and lower eyelid fat pad may be a special phenotype of c.458dupG variant of the OBSL1 gene. Our study may provide a useful reference for evaluating the relationship between genotype and phenotype of 3-M syndrome type 2.


Assuntos
Genômica , Biologia Molecular , Proteínas do Citoesqueleto , Nanismo , Feminino , Humanos , Hipotonia Muscular , Mutação , Linhagem , Coluna Vertebral/anormalidades , Sequenciamento Completo do Exoma
3.
Zhongguo Dang Dai Er Ke Za Zhi ; 23(10): 1058-1063, 2021 Oct 15.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-34719423

RESUMO

A 15-day-old boy was admitted to the hospital due to repeated convulsions for 14 days. The main clinical manifestations were uncontrolled seizures, hypoergia, feeding difficulties, limb hypotonia, and bilateral hearing impairment. Clinical neurophysiology showed reduced brainstem auditory evoked potential on both sides and burst-suppression pattern on electroencephalogram. Measurement of very-long-chain fatty acids in serum showed that C26:0 was significantly increased. Genetic testing showed a pathogenic compound heterozygous mutation, c.101C>T(p.Ala34Val) and c.1448_1460del(p.Ala483Aspfs*37), in the HSD17B4 gene. This article reports a case of D-bifunctional protein deficiency caused by HSD17B4 gene mutation and summarizes the epidemiological and clinical features, diagnosis, and treatment of this disease, with a focus on the differential diagnosis of this disease from Ohtahara syndrome.


Assuntos
Hipotonia Muscular , Deficiência de Proteína , Testes Genéticos , Humanos , Recém-Nascido , Masculino , Mutação , Proteína Multifuncional do Peroxissomo-2/genética , Deficiência de Proteína/genética
4.
Anesth Prog ; 68(3): 178-179, 2021 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-34606568

RESUMO

Ring 18 syndrome or ring chromosome 18 is an extremely rare genetic disorder involving the fusion of the 18th chromosomal ends to form a ring, often with genetic material loss of varying degrees. Although clinical presentation can be extremely variable, characteristic features usually include craniofacial malformations, delayed development, hypotonia, and other skeletal and congenital heart defects. We report the management of a 20-year-old male with ring chromosome 18 who underwent general anesthesia for dental treatment. Clinical manifestations for this patient included intellectual disability, short stature, hypertelorism, flat nasal bridge, micrognathia, a "carp-shaped" mouth, and aortic and pulmonary valve regurgitation. Although mask ventilation and oral intubation were easily performed, nasal intubation was difficult because of rhinostenosis. When providing general anesthesia for a patient with ring chromosome 18, anesthesiologists should evaluate the patient preoperatively for congenital heart defects and prepare for a potential difficult airway.


Assuntos
Anestésicos , Deficiência Intelectual , Adulto , Anestesia Geral/efeitos adversos , Humanos , Intubação Intratraqueal/efeitos adversos , Masculino , Hipotonia Muscular , Adulto Jovem
5.
Artigo em Inglês | MEDLINE | ID: mdl-34699703

RESUMO

Potocki-Lupski syndrome (PTLS) is a contiguous gene syndrome caused by duplication of chromosome 17p11.2. PTLS is characterized by hypotonia, failure to thrive, congenital anomalies (particularly of the cardiovascular system), intellectual disability, and behavioural disturbances. The patient was a full-term baby girl, 2,750 grams at birth, delivered via an uncomplicated vaginal delivery with pronounced hypotonia at birth. Nevertheless, there was failure to thrive (weight 7.6 kg; 2.8 SD). Micrognathia, epicanthal skin folds, and megalocornea were noticeable. There was a harsh continuous systolic murmur, and the ultrasound of the heart revealed a persistent arteriosus duct which was surgically closed. At the age of 18 months, the girl could not sit without support, and she could not utter simple words. The girl is often moody, angry, and aggressive. She is hyperactive and unable to establish contacts with family members. A 17p12-p11.2 microduplication was identified via MLPA. Muscle hypotonia, congenital heart malformation, failure to thrive, developmental delay, behavioural disturbances (or autism spectrum disorder), and intellectual disability are early signs of PTLS. The presence of PTLS was proven by an MLPA analysis.


Assuntos
Transtorno do Espectro Autista , Transtornos Cromossômicos , Síndrome de Smith-Magenis , Anormalidades Múltiplas , Duplicação Cromossômica , Hibridização Genômica Comparativa , Feminino , Humanos , Lactente , Recém-Nascido , Hipotonia Muscular/genética
6.
Zhongguo Dang Dai Er Ke Za Zhi ; 23(9): 965-968, 2021.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-34535214

RESUMO

A one-year and two-month old girl indicated large head circumference, widely spaced eyes, narrow palpebral fissures, strabismus on the right eye, broad and low nasal bridge and low-set ears. She had knee over extension and foot eversion on both sides while standing with help. She also had hypotonia and was not able to stand or walk independently. She can say "ma ma" unconsciously. In the neuropsychological developmental assessment, delayed development was shown on gross motor function, fine movement, adaptive capacity, speech and social behavior function. A de novo heterozygous mutation, c.3872G>A(p.G1291D), likely pathogenic, was detected in the CHD3 gene via the next generation sequencing. Snijders Blok-Campeau syndrome was confirmed. It is an extremely rare disease with only 60 cases reported globally. This case expands the CHD3 gene mutation sites and suggests that rare diseases need to be considered and genetic tests should be performed in children with intellectual developmental delay and abnormal facial features, so as to help early diagnosis. Citation.


Assuntos
DNA Helicases/genética , Complexo Mi-2 de Remodelação de Nucleossomo e Desacetilase/genética , Hipotonia Muscular , Comportamento Social , Feminino , Heterozigoto , Humanos , Lactente , Hipotonia Muscular/genética , Mutação
7.
BMC Neurol ; 21(1): 358, 2021 Sep 16.
Artigo em Inglês | MEDLINE | ID: mdl-34530748

RESUMO

BACKGROUND: Pathogenic variants in KDM5C are a cause of X-linked intellectual disability in males. Other features in males include short stature, dysmorphic features, seizures and spasticity. In some instances, female relatives were noted to have learning difficulties and mild intellectual disabilities, but full phenotypic descriptions were often incomplete. Recently, detailed phenotypic features of five affected females with de novo variants were described. (Clin Genet 98:43-55, 2020) Four individuals had a protein truncating variant and 1 individual had a missense variant. All five individuals had developmental delay/intellectual disability and three neurological features. CASE PRESENTATION: Here we report a three-year-old female with global developmental delay, hypotonia and ataxia. Through whole exome sequencing, a de novo c.1516A > G (p.Met506Val) variant in KDM5C was identified. This missense variant is in the jumonji-C domain of this multi domain protein where other missense variants have been previously reported in KDM5C related disorder. The KDM5C gene is highly intolerant to functional variation which suggests its pathogenicity. The probands motor delays and language impairment is consistent with other reported female patients with de novo variants in KDM5C. However, other features reported in females (distinctive facial features, skeletal abnormalities, short stature and endocrine features) were absent. To the best of our knowledge, our proband is the first female patient reported with a diagnosis of ataxia. CONCLUSIONS: This case report provides evidence for an emerging and phenotypic variability that adds to the literature of the role of KDM5C in females with neurodevelopmental disorders as well as movement disorders.


Assuntos
Deficiências do Desenvolvimento , Deficiência Intelectual , Ataxia , Criança , Pré-Escolar , Deficiências do Desenvolvimento/genética , Feminino , Histona Desmetilases , Humanos , Deficiência Intelectual/genética , Masculino , Hipotonia Muscular , Fenótipo , Sequenciamento Completo do Exoma
9.
Sci Rep ; 11(1): 16412, 2021 08 12.
Artigo em Inglês | MEDLINE | ID: mdl-34385517

RESUMO

Cohen syndrome (CS) is a rare syndromic form of rod-cone dystrophy. Recent case reports have suggested that cystoid maculopathy (CM) could affect CS patients with an early onset and high prevalence. Our study aims at improving our understanding and management of CM in CS patients through a retrospective case series of ten CS patients with identified pathogenic variants in VPS13B. Longitudinal optical coherence tomography (OCT) imaging was performed and treatment with carbonic anhydrase inhibitors (CAI) was provided to reduce the volume of cystoid spaces. CM affected eight out of ten patients in our cohort. The youngest patient showed a strong progression of macular cysts from the age of 4.5 to 5 years despite oral CAI medication. Other teenage and young adult patients showed stable macular cysts with and without treatment. One patient showed a moderate decrease of cystoid spaces in the absence of treatment at 22 years of age. Through a correlative analysis we found that the volume of cystoid spaces was positively correlated to the thickness of peripheral and macular photoreceptor-related layers. This study suggests that CAI treatments may not suffice to improve CM in CS patients, and that CM may resolve spontaneously during adulthood as photoreceptor dystrophy progresses.


Assuntos
Dedos/anormalidades , Deficiência Intelectual/patologia , Degeneração Macular/patologia , Edema Macular/patologia , Microcefalia/patologia , Hipotonia Muscular/patologia , Miopia/patologia , Obesidade/patologia , Degeneração Retiniana/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Deficiências do Desenvolvimento/patologia , Feminino , Dedos/patologia , Humanos , Masculino , Estudos Retrospectivos , Tomografia de Coerência Óptica/métodos , Adulto Jovem
10.
Int J Mol Sci ; 22(15)2021 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-34360727

RESUMO

Hereditary leiomyomatosis and renal cell carcinoma (HL (RCC)) entails cutaneous and uterine leiomyomatosis with aggressive type 2 papillary RCC-like histology. HLRCC is caused by pathogenic variants in the FH gene, which encodes fumarate hydratase (FH). Here, we describe an episode of young-onset RCC caused by a genomic FH deletion that was diagnosed via clinical sequencing. A 35-year-old woman was diagnosed with RCC and multiple metastases: histopathological analyses supported a diagnosis of FH-deficient RCC. Although the patient had neither skin tumors nor a family history of HLRCC, an aggressive clinical course at her age and pathological diagnosis of FH-deficient RCC suggested a germline FH variant. After counseling, the patient provided written informed consent for germline genetic testing. She was simultaneously subjected to paired tumor profiling tests targeting the exome to identify a therapeutic target. Although conventional germline sequencing did not detect FH variants, exome sequencing revealed a heterozygous germline FH deletion. As such, paired tumor profiling, not conventional sequencing, was required to identify this genetic deletion. RCC caused by a germline FH deletion has hitherto not been described in Japan, and the FH deletion detected in this patient was presumed to be of maternal European origin. Although the genotype-phenotype correlation in HLRCC-related tumors is unclear, the patient's family was advised to undergo genetic counseling to consider additional RCC screening.


Assuntos
Fumarato Hidratase/deficiência , Deleção de Genes , Mutação em Linhagem Germinativa , Leiomiomatose/genética , Erros Inatos do Metabolismo/genética , Hipotonia Muscular/genética , Síndromes Neoplásicas Hereditárias/genética , Transtornos Psicomotores/genética , Neoplasias Cutâneas/genética , Neoplasias Uterinas/genética , Adulto , Feminino , Fumarato Hidratase/genética , Testes Genéticos , Humanos
11.
J Clin Pathol ; 74(10): 615-619, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34353877

RESUMO

Fumarate hydratase (FH), encoded by the FH gene, is an enzyme which catalyses the conversion of fumarate to L-malate as part of the tricarboxylic acid cycle. Biallelic germline mutations in FH result in fumaric aciduria, a metabolic disorder resulting in severe neurological and developmental abnormalities. Heterozygous germline mutations in FH result in hereditary leiomyomatosis and renal cell carcinoma, a cancer predisposition syndrome. FH deficiency has multiple oncogenic mechanisms including through promotion of aerobic glycolysis, induction of pseudohypoxia, post-translational protein modification and impairment of DNA damage repair by homologous recombination. FH-deficient neoplasms can present with characteristic morphological features that raise suspicion for FH alterations and also frequently demonstrate loss of FH immunoreactivity and intracellular accumulation of 2-succinocysteine, also detected by immunohistochemistry.


Assuntos
Fumarato Hidratase/deficiência , Fumarato Hidratase/metabolismo , Erros Inatos do Metabolismo/enzimologia , Hipotonia Muscular/enzimologia , Neoplasias/enzimologia , Transtornos Psicomotores/enzimologia , Animais , Fumarato Hidratase/genética , Regulação Enzimológica da Expressão Gênica , Predisposição Genética para Doença , Humanos , Leiomiomatose/enzimologia , Leiomiomatose/genética , Leiomiomatose/patologia , Erros Inatos do Metabolismo/genética , Hipotonia Muscular/genética , Mutação , Neoplasias/genética , Neoplasias/patologia , Síndromes Neoplásicas Hereditárias/enzimologia , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/patologia , Fenótipo , Transtornos Psicomotores/genética , Neoplasias Cutâneas/enzimologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Neoplasias Uterinas/enzimologia , Neoplasias Uterinas/genética , Neoplasias Uterinas/patologia
12.
Orphanet J Rare Dis ; 16(1): 360, 2021 08 11.
Artigo em Inglês | MEDLINE | ID: mdl-34380534

RESUMO

BACKGROUND: Amyotrophic Lateral Sclerosis (ALS) is a rare, progressive, and fatal neurodegenerative disease due to upper and lower motor neuron involvement with symptoms classically occurring in adulthood with an increasing recognition of juvenile presentations and childhood neurodegenerative disorders caused by genetic variants in genes related to Amyotrophic Lateral Sclerosis. The main objective of this study is detail clinical, radiological, neurophysiological, and genetic findings of a Brazilian cohort of patients with a recent described condition known as Spastic Tetraplegia and Axial Hypotonia (STAHP) due to SOD1 deficiency and compare with other cases described in the literature and discuss whether the clinical picture related to SOD1 protein deficiency is a new entity or may be represent a very early-onset form of Amyotrophic Lateral Sclerosis. METHODS: We conducted a case series report which included retrospective data from five Brazilian patients with SOD1 protein deficiency of a Brazilian reference center for Neuromuscular Disorders. Clinical data were obtained from a review of the medical records and descriptive statistics and variables were summarized using counts and percentages of the total population. RESULTS: All 5 patients presented with a childhood-onset neurodegenerative disorders characterized by spastic tetraplegia with axial hypotonia in all cases, with gestational history showing polyhydramnios in 4/5 and intrauterine growth restriction in 3/5 patients, with most patients initially presenting a normal motor development until the six month of life or during the first year followed by a rapidly progressive motor decline with severe dysphagia and respiratory insufficiency in all patients accompanied by cognitive impairment in 3/5 patients. All patients were homozygous for the c.335dupG (p.Cys112Trpfs*11) mutation in the SOD1 gene with completely decreased enzyme activity. CONCLUSIONS: This case series is the biggest data collection of the new recent clinical entity described as Spastic Tetraplegia and Axial Hypotonia (STAHP) due to SOD1 deficiency.


Assuntos
Esclerose Amiotrófica Lateral , Hipotonia Muscular , Superóxido Dismutase-1 , Adulto , Esclerose Amiotrófica Lateral/genética , Criança , Humanos , Hipotonia Muscular/genética , Mutação/genética , Quadriplegia/genética , Estudos Retrospectivos , Superóxido Dismutase-1/genética
13.
Plast Surg Nurs ; 41(3): 159-162, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34463308

RESUMO

Current therapies that allow patients with bladder acontractility to void are limited. The standard therapy is clean intermittent catheterization. Latissimus dorsi detrusor myoplasty (LDDM) has been shown to provide functional contraction and allow patients with bladder acontractility to void voluntarily. Our goal was to summarize experimental studies of LDDM. We hypothesized that experimental studies would show that latissimus dorsi muscle (LDM) flaps for detrusor myoplasty have superior outcomes when compared with other types of flaps. On January 17, 2020, we conducted a systematic review of the PubMed/MEDLINE, Cochrane Clinical Answers, Cochrane Central Register of Controlled Trials, and EMBASE databases, without time frame limitations, to identify articles on the use of LDDM. We excluded studies that investigated other treatments. Of 54 articles identified by the search, three fulfilled the eligibility criteria. A total of 24 dogs underwent procedures and were evaluated with a maximum follow-up of 9 months. Three types of procedures were performed: LDM in situ reconfiguration, LDM myoplasty, and augmentation cystoplasty after supratrigonal cystectomy. Electrical stimulation, cystography, urodynamic and hydrodynamic measurements, and microscopic examinations were performed. Innervated LDM flaps transferred to the bladder were able to contract and promote voiding in response to electrical stimulation. Experimental studies have shown the feasibility of LDDM in canine models. Although no comparison groups were included, innervated LDM flap transferred to the bladder showed promising results regarding contraction capable of voiding.


Assuntos
Hipotonia Muscular/cirurgia , Músculos Superficiais do Dorso/cirurgia , Bexiga Urinária/cirurgia , Humanos , Hipotonia Muscular/fisiopatologia , Músculos Superficiais do Dorso/fisiopatologia , Retalhos Cirúrgicos/cirurgia , Bexiga Urinária/fisiopatologia , Urodinâmica/fisiologia
14.
Eur J Med Genet ; 64(9): 104280, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34229113

RESUMO

Xia-Gibbs syndrome (XGS) is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, obstructive sleep apnoea and mild facial dysmorphism. Heterozygosity for loss-of-function variants in AHDC1, encoding the AT-hook DNA binding motif containing protein 1, were discovered in 2014 as the likely genetic cause of Xia-Gibbs syndrome. We present five patients with Xia-Gibbs syndrome caused by previously unreported variants in AHDC1. Two of the patients share a frameshift variant: c.2849del (p.(Pro950Argfs*192)) in AHDC1. Despite sharing this variant, the two patients show remarkable phenotypic differences underscoring the clinical heterogeneity of Xia-Gibbs syndrome. In addition, we present a case of Xia-Gibbs syndrome caused by mosaicism for an AHDC1 variant.


Assuntos
Anormalidades Craniofaciais/genética , Proteínas de Ligação a DNA/genética , Deficiências do Desenvolvimento/genética , Deformidades do Pé/genética , Hipotonia Muscular/genética , Fenótipo , Adolescente , Adulto , Anormalidades Craniofaciais/patologia , Deficiências do Desenvolvimento/patologia , Feminino , Deformidades do Pé/patologia , Mutação da Fase de Leitura , Humanos , Masculino , Hipotonia Muscular/patologia , Síndrome , Adulto Jovem
15.
BMC Pediatr ; 21(1): 254, 2021 05 31.
Artigo em Inglês | MEDLINE | ID: mdl-34059004

RESUMO

BACKGROUND: Interstitial deletions of chromosome band 10q11-q22 was a genomic disorder distinguished by developmental delay, congenital cleft palate and muscular hypotonia. The phenotypes involved were heterogeneous, hinge on the variable breakpoints and size. CASE PRESENTATION: Here, we presented a patient with soft palate cleft, growth and development delay. The patient was a 2 years and 5 months girl who was not able to walk unless using a children's crutches to support herself. Whole-exome sequencing (WES) and whole-genome mate-pair sequencing (WGMS) were both performed by next generation sequencing (NGS). A 20.76 Mb deletion at 10q11.23q22.1 (seq[GRCh37/hg19]del(10)(50,319,387-71,083,899) × 1) was revealed by the WGMS, which was verified as de novo by quantitative polymerase chain reaction (QPCR). CONCLUSION: Children with 10q11-q22 deletions greater than 20 MB have never been reported before, and we are the first to report and provide a detailed clinical phenotype, which brings further knowledge of 10q11-q22 deletions.


Assuntos
Fissura Palatina , Criança , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Hipotonia Muscular , Fenótipo , Sequenciamento Completo do Exoma
16.
Rev Chilena Infectol ; 38(2): 218-223, 2021 Apr.
Artigo em Espanhol | MEDLINE | ID: mdl-34184713

RESUMO

BACKGROUND: Hypotonic-hyporesponsive episodes (HHE) is one frequently reported neurologic adverse effect supposedly attributable to vaccination and immunization. Its long-term impact on neurodevelopment is not completely known. AIM: To characterize the post-pentavalent vaccine HHE events reported to the Uruguayan Ministry of Health (M of H) between 2014 and 2018. To perform neurodevelopment screening of those who were under 6 years of age at the time of evaluation. METHODS: Descriptive study of the reports made to the National Farmacosurveillance System of the M of H. Neurodevelopment screening was performed using the National Guidelines for Developmental Surveillance. RESULTS: 30 cases were studied. Most cases occurred after the first doses, were of short duration and during the first hours after vaccination, with spontaneous recovery. Median time between the event and this evaluation was 2 years and 2 months. Screening tests were normal in 15. Delay in the language area was detected in one case. CONCLUSIONS: HHE events had similar characteristics to those described in the literature, with no severe short-term complications. Despite the limitations of the present study, no delays nor deviations were found in the development of the children who were evaluated.


Assuntos
Hipotonia Muscular , Vacinação , Criança , Pré-Escolar , Humanos , Imunização , Lactente , Hipotonia Muscular/epidemiologia , Hipotonia Muscular/etiologia , Uruguai/epidemiologia , Vacinas Combinadas
17.
Zhonghua Er Ke Za Zhi ; 59(6): 466-470, 2021 Jun 02.
Artigo em Chinês | MEDLINE | ID: mdl-34102819

RESUMO

Objective: To enhance the early recognition of Prader-Willi syndrome by summarizing the clinical characteristics of Prader-Willi syndrome (PWS) during perinatal period. Methods: Through a nationwide cross-sectional study in the Department of Pediatrics, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences,226 children diagnosed as PWS by molecular genetics were recruited from September 2019 to March 2020. Clinical data including fetuses Age, birth weight, fetal movement, fetal position, amniotic fluid, mode of bith, crying, muscle tension, feeding, and cryptorchidism were collected to analyze the clinical characteristics of Chinese PWS patients in the perinatal period, and according to the mode of birty, birth weight and genotypes to perform subgroup analysis. The clinical manifestations of different subtypes were statistically analyzed by t test, χ2 test or Mann-Whitney U test. Results: Among the 226 PWS patients, 120 were males, and 106 were females. Among them, 100 (44.2%) patients were small for gestational age. Decreased fetal movement was the most common manifestation 202 cases (89.4%) during pregnancy, and other manifestations included polyhydramnios 71 cases (31.4%) and abnormal fetal position 58 cases (25.7%). One hundred and eighty-five (81.9%) patients were delivered by cesarean section and the frequency of abnormal fetal position was significantly higher (30.8%(57/185) vs. 2.4%(1/41),χ²=14.161,P<0.01). As for abnormal manifestations after birth included hypotonia 221 cases (97.8%),220 cases (97.3%) showing weak crying, 116 cases among the total 120 males patients (96.7%) wanifested with cryptordnildism and 206 feeding difficulties (91.2%). In terms of genetic subtype, most of them (184/226, 81.4%) had a paternal deletion, while maternal age (35±5 vs. 29±5, t=-6.591, P<0.01) and the frequency of polyhydramnios (47.6% (20/42) vs. 27.7% (51/185), χ²=6.286, P=0.012) were significantly higher in the non-deletion group. Conclusions: The main manifestations of PWS patients during the perinatal period are hypotonia, weak crying, feeding difficulties, decreased fetal movement, cryptorchidism and those patients are more likely to be born by cesarean section. In newborns with these characteristics, pediatricians should be aware of the possibility of PWS. In terms of the relationship between genotypes and phenotypes, polyhydramnios is more frequently observed in the non-deletion group.


Assuntos
Síndrome de Prader-Willi , Cesárea , Criança , China/epidemiologia , Estudos Transversais , Feminino , Humanos , Recém-Nascido , Masculino , Hipotonia Muscular , Síndrome de Prader-Willi/epidemiologia , Síndrome de Prader-Willi/genética , Gravidez
18.
Forensic Sci Int ; 325: 110858, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34091410

RESUMO

France is the country with the highest prevalence of cannabis use in Europe, despite the fact that cannabis has not been legalized. This prevalence is still increasing along with THC content in cannabis products. In the meantime, unintentional cannabis poisoning by ingestion in toddlers is constantly rising. The aim of this study was to document children's cannabis poisoning biologically and clinically. Plasma and urine samples were extracted by solid phase extraction and analyzed by liquid chromatography coupled to tandem mass spectrometry. Children under 4 years old admitted in pediatric emergency departments for cannabis intoxication between February 1st 2019 and January 31st 2020 were included in this study. Twenty-six children were included (14 female and 12 male), the mean age was 17 months (10-41 months). THC, 11-OH-THC and THC-COOH plasma concentrations ranged from 2.9 to 93 ng/mL, 2.6-65 ng/mL and 29-914 ng/mL, respectively. The most frequent symptoms were drowsiness and hypotonia. Six critical cases were observed: 5 coma and 1 respiratory depression. All children having THC plasma concentrations over 60 ng/mL were in coma. Cannabis poisoning in toddlers become more frequent, 9 cases/year were reported in Marseille in 2007 and 26 cases/year in this study. There is a rising in severe clinical cases, particularly coma. These observations could be explained by an increase in THC content in cannabis products, and a trivialization of cannabis consumption. The unintentional ingestion of cannabis by children is a serious public health concern, and cannabis legalization could worsen this problem.


Assuntos
Acidentes/estatística & dados numéricos , Cannabis/envenenamento , Canabinoides/sangue , Pré-Escolar , Coma/induzido quimicamente , Serviço Hospitalar de Emergência , Fadiga/induzido quimicamente , Feminino , França/epidemiologia , Humanos , Lactente , Masculino , Hipotonia Muscular/induzido quimicamente , Envenenamento/epidemiologia , Insuficiência Respiratória/induzido quimicamente
19.
Pan Afr Med J ; 38: 237, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34046142

RESUMO

Vitamin B12 deficiency in early childhood is an important cause of neurodevelopmental delay and regression. Most of these cases occur in exclusively breast-fed infants of deficient mothers. Symptoms and signs of vitamin B12 deficiency appear between the ages of 2 to 12 months and include vomiting, lethargy, failure to thrive, hypotonia, and arrest or regression of developmental skills. Approximately one half of this cases exhibit abnormal movements, variously described as tremors, twitches, chorea, or myoclonus. Urinary concentrations of methylmalonic acid and homocysteine are characteristically elevated in vitamin B12 deficiency. Hyperglycinuria is sometimes present. The early diagnosis and treatment of vitamin B12 deficiency is crucial for significant neurological impairment and long-term prognosis. Treatment with vitamin B12 corrects these metabolic abnormalities very rapidly (within a few days). Vitamin B12 supplementation of pregnant women may prevent neurological and neuroradiological findings of the infants. Because of the importance of vitamin B12 in the development of the foetal and neonatal brain, vegetarian and vegan mothers should be aware of the severe and not fully-reversible damages caused by insufficient nutritional intake of vitamin B12 during pregnancy and lactation. Therefore, efforts should be directed to prevent its deficiency in pregnant and breastfeeding women on vegan diets and their infants. It is also important to take the nutritional history of both infants and their mothers for the early prevention and treatment. Here an interesting case of vitamin B12 deficiency in a 10-month-old boy presented with psychomotor regression, hypotonia and lethargy.


Assuntos
Suplementos Nutricionais , Deficiência de Vitamina B 12/diagnóstico , Vitamina B 12/administração & dosagem , Aleitamento Materno , Feminino , Humanos , Lactente , Masculino , Hipotonia Muscular/etiologia , Gravidez , Cuidado Pré-Natal , Deficiência de Vitamina B 12/tratamento farmacológico
20.
Eur J Paediatr Neurol ; 33: 21-28, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34051595

RESUMO

OBJECTIVES: Autosomic recessive mutations in the PIGN gene have been described in less than 30 subjects to date, in whom multiple congenital anomalies combined with severe developmental delay, hypotonia, epileptic encephalopathy, and cerebellar atrophy have been described as crucial features. A clear-cut neuroradiological characterization of this entity, however, is still lacking. We aim to present three pediatric PIGN mutated cases with an in-depth evaluation of their brain abnormalities. METHODS: We present the neuroradiological, clinical, and genetic characterization of three Caucasian pediatric subjects with pathogenic/likely pathogenic variants in the PIGN gene revealed by Next Generation Sequencing analysis. RESULTS: We identified three subjects (two siblings, one unrelated case) presenting with encephalopathy with early-onset epilepsy, hypotonia, and severe global developmental delay. No additional severe multiple congenital anomalies were detected. Neuroradiological evaluation showed extensive quantitative reduction of white matter, severe and progressive cortical atrophy, with frontal predominance and an anteroposterior gradient, combined with cerebellar and brainstem atrophy. CONCLUSIONS: Our findings broaden and systematize the neuroradiological spectrum of abnormalities in PIGN related encephalopathy. Furthermore, our dataset confirms that mutations in PIGN gene appear to be pan-ethnic and represent an underestimated cause of early-onset encephalopathy.


Assuntos
Fosfotransferases/genética , Epilepsia/diagnóstico por imagem , Epilepsia/genética , Humanos , Hipotonia Muscular , Mutação/genética , Fenótipo
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