Two cases of Pompe's disease: case report and review of literature

Jegadeeswari, A.; Amuthan, V; Janarthanan, R.A.; Murugan, Subramanian Jothi; Balasubramanian, Sowmya

doi:10.1016/s0019-4832(12)60067-4

Cited by 9 publications

(5 citation statements)

References 8 publications

(14 reference statements)

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“…The GAA variant c.1828G-A p. (Ala610 Thr) causes an amino acid change from Ala to Thr at position 610. This disease usually presents as progressive muscle weakness, reduced muscular tone, cardiomyopathy, and respiratory deficiency within the first three months of life [ 6 ]. Our patient presented with bradycardia, poor suckling, respiratory distress, respiratory failure requiring assisted ventilation, subglottic stenosis, and tachypnea.…”

Section: Discussionmentioning

confidence: 99%

Co-occurrence of Glycogen Storage Disease Type 2 and Congenital Myasthenic Syndrome Type 5 in a Pediatric Patient: A Case Report

Al-Sharif¹,

Alamer²,

Taher³

et al. 2022

Cureus

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Glycogen storage disease type 2 (also known as Pompe disease) is a metabolic disorder characterized by an accumulation of glycogen within lysosomes. Pathophysiologically, this condition is caused by an autosomal recessive deficiency of the lysosomal acid alpha-glucosidase enzyme, resulting in defects in lysosomal metabolism. Glycogen accumulation causes advanced muscle weakness (myopathy) throughout the body, including the heart, skeletal muscles, liver, and the neurological system. Currently, there is no definitive treatment for Pompe disease. However, recent studies have indicated that enzyme replacement therapy (ERT) can be effective. Myasthenia gravis (MG) is an autoimmune illness that affects the postsynaptic acetylcholine receptors and causes fatigue that can be eased by rest. MG is frequently accompanied by a thymoma. Dyspnea and/or bulbar symptoms can indicate an imminent crisis requiring immediate intervention. Here, we present a rare case of a four-year-old female patient who initially presented at the age of one month with the infantile form of Pompe disease and congenital myasthenia syndrome type 5. The patient presented with bradycardia, poor suckling, respiratory distress, and respiratory failure requiring assisted ventilation, subglottic stenosis, and tachypnea. Whole exome sequencing was used for definitive diagnosis. ERT (Myozyme) was administered with good results. We propose that early identification and management of Pompe disease with Myozyme can improve patients’ condition and ultimately increase the possibility of survival.

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Section: Discussionmentioning

confidence: 99%

Co-occurrence of Glycogen Storage Disease Type 2 and Congenital Myasthenic Syndrome Type 5 in a Pediatric Patient: A Case Report

Al-Sharif¹,

Alamer²,

Taher³

et al. 2022

Cureus

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“…1 In the study done by Jegdeeswari et al two cases presented early in infancy with decompensated cardiac failure and hypertrophic cardiomyopathy was diagnosed as infantile Pompe disease. 2 The confirmatory step is enzyme assay demonstrating deficient acid α-glucosidase and gene sequencing. 3 Specific enzyme replacement therapy with recombinant human acid α-glucosidase (alglucosidase alfa) is available.…”

Section: Discussionmentioning

confidence: 99%

“…1 Incidence in India is unclear. 2 Pompe disease is broadly classified into infantile and late onset forms. Infantile Pompe disease is a rapidly progressive, often fatal disease characterised by significant cardiomegaly, hepatomegaly and hypotonia.…”

Section: Introductionmentioning

confidence: 99%

A rare case of infantile onset Pompe disease with genetic diagnosis

Phadke¹,

Kumble²,

Kumble³

et al. 2020

Int J Contemp Pediatr

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Glycogen storage disease type II, also called Pompe disease or acid maltase deficiency is a disorder of muscle glycogenoses with a wide range of clinical manifestations. It is one of the disorders of glycogen metabolism caused by a deficiency of lysosomal acid α-1, 4-glucosidase (acid maltase) resulting in lysosomal glycogen accumulation in cardiac, skeletal and smooth muscle cells. The pattern of inheritance is autosomal recessive with a gene for enzyme located on chromosome 17q25.2.It is the first recognized lysosomal storage disorder and the first neuromuscular disorder for which enzyme replacement therapy has been approved. We report a case of four month old female child, born to primi gravida third degree consanguineous couple, who presented with history of respiratory illness, hypotonia and developmental delay. Baby was sick needing mechanical ventilation and inotropic support. Echocardiography showed concentric LV hypertrophy with no LV outflow tract obstruction. In view of consanguinity, developmental delay, hepatomegaly and cardiomegaly, provisional diagnosis of a storage disorder, probably infantile Pompe disease was considered. Dried blood spot for α-1, 4-glucosidase enzyme assay confirmed the same. Enzyme replacement therapy was considered, but child progressed to cardiac failure needing prolonged ventilation and expired on day 8 of admission. Whole genome exome sequencing revealed 2 mutations which confirmed the diagnosis. Infantile Pompe disease is fatal without treatment. High index of suspicion and early diagnosis may help in taking advantage of emerging therapeutics, such as ERT which is capable of changing the natural history of the disease.

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“…Generalized hypotonia was a universal feature and our 3 patients exhibited the pathognomonic frog like position. Heart involvement is frequent in IOPD and most infants developed massive and progressive cardiomegaly before age of 6 months [ 29 – 31 ]. Marked cardiomegaly and cardiomyopathy with progression to cardiac failure were observed in 2 of our 3 patients with EOPD.…”

Section: Discussionmentioning

confidence: 99%

Clinical Analysis of Algerian Patients with Pompe Disease

Sifi

Medjroubi

Froissart

et al. 2017

Journal of Neurodegenerative Diseases

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Pompe's disease is a metabolic myopathy caused by a deficiency of acid alpha-glucosidase (GAA), also called acid maltase, an enzyme that degrades lysosomal glycogen. The clinical presentation of Pompe's disease is variable with respect to the age of onset and rate of disease progression. Patients with onset of symptoms in early infancy (infantile-onset Pompe disease (IOPD)) typically exhibit rapidly progressive hypertrophic cardiomyopathy and marked muscle weakness. Most of them die within the first year of life from cardiac and/or respiratory failure. In the majority of cases of Pompe's disease, onset of symptoms occurs after infancy, ranging widely from the first to sixth decade of life (late-onset Pompe's disease or LOPD). Progression of the disease is relentless and patients eventually progress to loss of ambulation and death due to respiratory failure. The objective of this study was to characterize the clinical presentation of 6 patients (3 with EOPD and the other 3 with LOPD) of 5 families from the East of Algeria. All our patients were diagnosed as having Pompe's disease based on biochemical confirmations of GAA deficiency by dried blood spots (DBS) and GAA gene mutations were analyzed in all patients who consented (n = 4). Our results are similar to other ethnic groups.

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Two cases of Pompe's disease: case report and review of literature

Cited by 9 publications

References 8 publications

Co-occurrence of Glycogen Storage Disease Type 2 and Congenital Myasthenic Syndrome Type 5 in a Pediatric Patient: A Case Report

Co-occurrence of Glycogen Storage Disease Type 2 and Congenital Myasthenic Syndrome Type 5 in a Pediatric Patient: A Case Report

A rare case of infantile onset Pompe disease with genetic diagnosis

Clinical Analysis of Algerian Patients with Pompe Disease

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