Skeletal alterations, developmental delay and new mutations in juvenile-onset Pompe disease

Guevara-Campos, José; González-Guevara, Lucía; Cauli, Omar

doi:10.1016/j.nmd.2018.11.013

Cited by 10 publications

(6 citation statements)

References 19 publications

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“…9,11,15 There have been reports of developmental delays in childhood. 26 This is also seen in this case presentation where the patient did not crawl until one and did not walk until two. Problems with growth can be seen in children with Pompe disease, as was evident in this case, where the paediatric endocrinologist placed him on growth hormones.…”

Section: Discussionsupporting

confidence: 69%

Oral Findings in a Patient with Pompe Disease: A Case Report

AKINDELE,

OSIBOGUN,

ABE

et al. 2024

J Paediatr Dent Res Pract

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Background: : Pompe disease, also called glycogen storage disease type II, is a rare metabolic disease due to deficiency of acid alpha-glucosidase enzyme leading to accumulation of lysosomal glycogen within the tissues. Pompe disease can be classified into infantile and late-onset according to the age of onset. Clinical features include cardiomegaly, muscle weakness, hepatomegaly, recurrent pneumonia and dysphagia. Orofacial features include facial hypotonia, midface hypoplasia and mandibular prognathism, macroglossia, gingival hyperplasia, taurodontism, fusion of primary incisors and delayed eruption. Case Presentation: A 7-year-old boy presented with complaints of several missing teeth. On general physical examination, the patient was hyperactive with an ataxic gait. Intraorally, oligodontia of the primary dentition, macroglossia and mild ankyloglossia were found. An orthopantomogram, however, revealed the presence of permanent tooth buds. The patient was counselled and extraction of a mobile, necrosed and retained primary tooth (71) was done. Conclusion: Effective diagnosis and treatment of patients with Pompe disease requires a multidisciplinary team approach.

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Section: Discussionsupporting

confidence: 69%

Oral Findings in a Patient with Pompe Disease: A Case Report

AKINDELE,

OSIBOGUN,

ABE

et al. 2024

J Paediatr Dent Res Pract

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“…We decided to include common sequence variants in response to the misreporting of these variants as the principal cause of disease in several patients. Examples of this are the c.547‐67C>G (rs8069491) and 547‐39T>G (rs12452721) variants, which were reported as the cause of disease while having an allele frequency of 67% in the global population (Bekircan‐Kurt et al, 2017; Guevara‐Campos et al, 2019). In total, the database now includes 148 variants with a MAF ≥ 1%.…”

Section: Resultsmentioning

confidence: 99%

“…in the global population (Bekircan-Kurt et al, 2017;Guevara-Campos et al, 2019). In total, the database now includes 148 variants with a MAF ≥ 1%.…”

Section: Methodsmentioning

confidence: 99%

Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening

et al. 2020

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Pompe disease is an inherited disorder caused by disease-associated variants in the acid α-glucosidase gene (GAA). The Pompe disease GAA variant database (http:// www.pompevariantdatabase.nl) is a curated, open-source, disease-specific database, and lists disease-associated GAA variants, in silico predictions, and clinical phenotypes reported until 2016. Here, we provide an update to include 226 diseaseassociated variants that were published until 2020. We also listed 148 common GAA sequence variants that do not cause Pompe disease. GAA variants with unknown severity that were identified only in newborn screening programs were listed as a new feature to indicate the reason why phenotypes were still unknown. Expression studies were performed for common missense variants to predict their severity. The updated Pompe disease GAA variant database now includes 648 disease-associated variants, 26 variants from newborn screening, and 237 variants with unknown severity. Regular updates of the Pompe disease GAA variant database will be required to improve genetic counseling and the study of genotype-phenotype relationships.

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“…Many diseases can be included in the differential diagnosis of Pompe disease such as idiopathic hypertrophic cardiomyopathy, myocarditis, spinal muscular atrophy type 1, and congenital muscular atrophy (10). A high level of clinical suspicion is necessary for a timely and accurate diagnosis (11). Chest X-ray and electrocardiogram are the screening tests for diagnosing Pompe disease in infants.…”

Section: Discussionmentioning

confidence: 99%

Infantile Pompe disease treatment with Myozyme in Chaharmahal and Bakhtiari: A case report

Asadpour

Bagheri-Kakolaki

2019

J Shahrekord Univ Med Sci

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Pompe disease is a lysosomal storage disorder that results from an inborn error of metabolism which involves abnormal glycogen storage. Infantile-onset Pompe disease is the most severe phenotype that manifests with the findings of hypotonia, generalized muscle weakness, feeding difficulties, a failure to thrive, hearing loss, hypertrophic cardiomyopathy with systolic dysfunction, and respiratory distress. There is no effective treatment for Pompe disease and clinical control includes primary support health care. However, recent studies have reported that enzyme replacement therapy (ERT) can effectively decrease the symptoms or severity of the disease. The present study is a case report of a 24-day patient with infantile-onset Pompe disease who presented coughing and respiratory distress. The infant experienced fatigue during breastfeeding from the birth and developed dry and nonproductive coughs and perioral cyanosis from two weeks after the birth. The echocardiogram demonstrated left and right ventricular enlargement, mitral and tricuspid regurgitation, and pulmonary hypertension. After definitive diagnosis, the patient was administered with 20 mg/kg of alglucosidase 50 mg vial once every two weeks. He experienced significant improvement in body weight and echocardiogram and symptoms such as fatigue during breastfeeding and perioral cyanosis disappeared completely while he was under Myozyme treatment. In general, the observations confirmed the efficacy of Myozyme in a patient with infantile Pompe disease. Therefore, early diagnosis and quick treatment of Pompe disease with Myozyme can lead to acceptable outcomes, improve conditions, and finally, increase the chance of survival in these patients.

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Skeletal alterations, developmental delay and new mutations in juvenile-onset Pompe disease

Cited by 10 publications

References 19 publications

Oral Findings in a Patient with Pompe Disease: A Case Report

Oral Findings in a Patient with Pompe Disease: A Case Report

Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening

Infantile Pompe disease treatment with Myozyme in Chaharmahal and Bakhtiari: A case report

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