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The physical education and the Infantile Systemic Hyalinosis: A case report.

ABSTRACT: The purpose of this case report is to present the case study of a child with Systemic Infantile Hyalinosis in the educational attendance specialized in Physical Education and Art (dance). The collection took place through the Teachers' Field Diary and the interview with the child's mother. The pedagogical intervention lasted 15 months and took place at the swimming and dance workshops at the Catholic University of Brasilia, with two weekly classes in each workshop lasting 30 min each. The intervention was based on Henri Wallon's theory of emotions and sought freedom of expression, body experience, and the discovery of a body marked by disease and, in many moments, disrespected in its possibilities. At the end of the intervention, mobility, and range of motion gains were observed in motor terms, which were compromised due to the instability caused by the progressive disease. However, there were significant gains regarding self-esteem, which were relevant and significantly contributed to a better quality of life of the child.

SUBMITTER: Boato EM

PROVIDER: S-EPMC7355713 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature

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The physical education and the Infantile Systemic Hyalinosis: A case report.

Boato Elvio Marcos EM Albuquerque Augusto Parras AP Nascimento Edilson Francisco EF Rodrigues Grassiele Massoli GM Melo Geiziane Leite Rodrigues GLR Moita Márcia Correia MC

Heliyon 20200710 7

The purpose of this case report is to present the case study of a child with Systemic Infantile Hyalinosis in the educational attendance specialized in Physical Education and Art (dance). The collection took place through the Teachers' Field Diary and the interview with the child's mother. The pedagogical intervention lasted 15 months and took place at the swimming and dance workshops at the Catholic University of Brasilia, with two weekly classes in each workshop lasting 30 min each. The interv ...[more]

PMID: 32685732

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Project description:INTRODUCTION:Infantile Systemic Hyalinosis (ISH) is a rare and fatal genetic disorder with mutations in Capillary morphogenesis gene-2 CMG2 / Human anthrax toxin receptor gene-2 ANTXR2 resulting in spindle cell proliferation, altered collagen metabolism with extensive deposition of amorphous eosinophilic PAS positive hyaline material in the connective tissues of various organs. The common presenting features would be progressive stiffness of multiple joints, skin lesions, multiple episodes of protracted infections, prolonged diarrhoea and failure to thrive. ISH is a rapidly progressive painful disorder of infancy with a very short life expectancy. CASE PRESENTATION:3 months old identical twins born to a 5th degree consanguinous couple were brought with complaints of excessive cry, deformity of all four limbs, recurrent episodes of respiratory tract infections and diarrhoea since birth. Evaluation of both the probands revealed facial dysmorphism with perinasal nodules, gingival hypertrophy, fixed deformities of multiple joints bilaterally, umbilical hernia, fleshy perianal nodules and pigmented patches over knuckles and ankle. A clinical diagnosis of ISH was suspected and confirmed by detection of homozygous c.277_278insATTATTT (or p.L93Yfs*14) in exon 3 of the ANTXR2 gene. The probands were managed symptomatically and parents were counselled regarding prenatal diagnosis in future pregnancies. CONCLUSION:IHS is commonly misdiagnosed as Arthrogryposis Multiplex Congenita and is often mismanaged with manipulation of the stiff joints and invasive surgical procedures. Prenatal diagnosis by chorionic villus biopsy is possible once causative mutation in a family is identified. Invasive surgical interventions for histopathological analysis can be avoided as clinical features are most often classical and genetic analysis is confirmatory. Management is conservative and symptomatic. We report this case of identical twins with features of ISH in view of its rarity as timely clinical suspicion can avoid painful and invasive procedures for diagnosis and management.

Project description:Background: Non-febrile illness seizures may present in previously healthy children as afebrile seizures associated with minor infections, such as mild gastroenteritis or respiratory tract infections, and are linked to a genetic predisposition. For the novel human coronavirus SARS-CoV-2, causing COVID-19, fever, cough, and gastrointestinal complaints are the most common symptoms in children, and a hyperimmune response may be present. No detailed temporally associated neurological complications have been documented in pediatric case series so far. Case description: We present the case of a 3-months-old girl with non-febrile repeated seizures in a COVID-19 family setting. The infant started with a mild fever and cough that lasted for 2 days. At day 6 from onset, the girl presented with two focal motor seizures with impaired consciousness and awareness. All investigations ruled out signs of meningo-encephalitis or active epilepsy, including normal electroencephalogram and cerebral magnetic resonance imaging. PCR from nasal and throat swabs was positive for SARS-CoV-2. Remarkably, blood ferritin and D-dimer levels were increased. At day 9, the infant presented another afebrile motor seizure, and levetiracetam dose was modified there was a favorable response within 3 months of the follow-up. Much interest has been raised with regards to host genetic determinants to disease severity and susceptibility to COVID-19. We thus performed whole exome sequencing, revealing a pathogenic frameshift mutation in the PRRT2 gene in both the mother and the infant. The mother had presented two late infantile febrile convulsions with normal outcome afterwards. Discussion: The hyperimmune response described in adult cases with COVID-19 can be seen in infants, even in the absence of respiratory symptoms. Moreover, COVID-19 may present in infants as non-febrile seizures, triggering early onset seizures in infants with a genetic predisposition. In this pandemic situation, precision medicine using massive sequencing can shed light on underlying molecular mechanisms driving the host response to COVID-19.

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The physical education and the Infantile Systemic Hyalinosis: A case report.

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The physical education and the Infantile Systemic Hyalinosis: A case report.

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