Unusual Cardiac “Masses” in a Newborn with Infantile Pompe Disease

Swarr, Daniel T.; Kaufman, Beth D.; Fogel, Mark A.; Finkel, Richard S.; Ganesh, Jaya

doi:10.1007/8904_2011_85

Cited by 6 publications

(6 citation statements)

References 12 publications

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“…One of the reviewed cases had been found to have cardiac hypertrophy by routine prenatal ultrasonography at 38 weeks. In 2011, Swarr et al reported a case who had an unusual cardiac 'mass' and biventricular hypertrophy identified by prenatal ultrasound at 30 weeks, which was consistent with the diagnosis of infantile Pompe disease by the detection of GAA activity from a blood spot (11). Following the diagnosis of a patient, it may be necessary for the family to undergo genotype testing and have a genetic consultation with professional geneticists.…”

Section: Discussionmentioning

confidence: 91%

Infantile Pompe disease: A case report and review of the Chinese literature

Liu

Yang

Wang

et al. 2015

Experimental and Therapeutic Medicine

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Pompe disease, also known as glycogen storage disease type II, is caused by acid maltase deficiency, and can lead to lysosomal glycogen storage. The primal manifestations may be observed in children and adults, and also in infants. In general, the clinical spectrum in infants is more progressive and lethal than that in older patients. This case report describes the case of a newborn who was found to have cardiac hypertrophy, hepatomegaly and elevated serum enzyme levels, which was characterized by an aspartate aminotransferase level of 95 U/l, lactate dehydrogenase level of 778 U/l and creatine kinase level of 1,299 U/l. On the basis of the clinical signs and laboratory results, dried blood spots from the baby were tested to determine the acid α-glucosidase (GAA) activity, and the result confirmed that the GAA activity was only 0.10 pmol/punch/h (normal reference range, 2.88-89.02 pmol/punch/h) at pH 3.8, which was clearly lower than the normal range, leading to a diagnosis of Pompe disease. Pompe disease is incurable, and before the introduction of enzyme replacement therapy (ERT), pain relief was the main treatment. Recognizing this disease earlier and starting ERT in infants prior to the development of clinical symptoms is likely to improve the quality of life of patients.

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Section: Discussionmentioning

confidence: 91%

Infantile Pompe disease: A case report and review of the Chinese literature

Liu

Yang

Wang

et al. 2015

Experimental and Therapeutic Medicine

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“…5 The present patient was fed via orogastric feeding tube until DOL 57 because of difficulty in sucking and swallowing. 5 In patients with PD during the neonatal period, CK values range from 478 to 4,158 IU/L (2 to 14 times the normal value) 10,[12][13][14][15][16] , AST values range from 93 to 341 IU/L (2 to 8 times the normal value) 10,[12][13][14][15] , ALT values range from 21 to 160 IU/L (from normal to 4 times the normal value) 10,12,13,17 , and LDH values range from 888 to 1,848 IU/L (2 to 4 times the normal value) 10,12,14,17 . In our case, CK value was higher than those reported in the literature.…”

Section: Discussionmentioning

confidence: 99%

A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report

Bor

İlhan

Gümüş

et al. 2020

J Pediatr Intensive Care

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Pompe disease (PD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of acid α-1,4-glucosidase enzyme (GAA). PD has two forms, namely the infantile-onset and the late-onset form. In untreated cases, infantile-onset form usually leads to cardio-respiratory failure and death in the first year of life. Herein, we report a newborn with infantile-onset PD characterized by muscular hypotonia, respiratory distress, hypertrophic cardiomyopathy, hepatomegaly, elevated serum enzyme levels of aspartate aminotransferase of 117 IU/L (three times the normal value), alanine aminotransferase of 66 IU/L (1.8 times the normal value), lactate dehydrogenase of 558 IU/L (1.2 times the normal value), and creatine kinase >5,000 IU/L (16 times the normal value). Dried blood spot testing was performed and revealed decreased GAA enzymatic activity (0.07 nmol/mL/h, normal 0.93–7.33 nmol/mL/h). GAA gene analysis performed for confirming the diagnosis showed homozygous mutation c.896T >C (p.Leu299Pro). Initiation of enzyme replacement therapy (ERT) (ERT; 20 mg/kg, once every week) at 28 days of age resulted in weaning off from respiratory support within 1 week after treatment, normalization of cardiac abnormalities, and normal neuromotor development in the 16th month of age. Early diagnosis and early treatment with ERT, especially in the neonatal period, is of great importance to improve cardiac function and motor development in infantile-onset PD.

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“…We use "prenatal diagnosis", "pompe disease", "glycogen storage disease type " and "acid maltase de ciency" as search terms to nd related articles up to february 2022 in Chinese databases (CNKI database, Wanfang database) and PubMed database (build database). A total of 3 English literatures were retrieved, and 5 children with intrauterine onset Pompe disease were reported [5,6,7]. So including the case we reported ,there was 6 cases (Table 1) in all.…”

Section: Literature Review Materialsmentioning

confidence: 99%

A case of infantile Pompe disease with intrauterine onset and literature review

et al. 2022

Preprint

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Background: Pompe disease is a rare autosomal recessive disease.Acid alpha-glucosidase deficiency leads to glycogen storage in lysosomes, causing skeletal muscle, cardiac muscle and smooth muscle lesions.Pompe disease is progressive and the severity of the disease depends on the age of onset.The most severe form, known as classic infantile Pompe disease (IOPD), characterized by onset before 12 months.However, few cases of intrauterine onset have been reported.Case presentation: The proband was born at 40 weeks+3 days of gestational age and admitted to our hospital due to cardiac hypertrophy found in the uterus, shortness of breath and cyanosis after birth for 13 minutes. Physical examination at admission time showed poor response, pale skin, shortness of breath, low limb muscle tone and edema of both lower extremities. The heart sounds were weak without heart murmur. Echocardiography showed: left ventricular hypertrophy (9mm),right ventricular hypertrophy (5mm); The patient was given non-invasive ventilator-assisted respiration, fluid restriction, diuresis and metoprolol treatment. The child was diagnosed as infantile Pompe disease at 16 days with the acid alpha-glucosidase 0.31umol/l/h and the full penetrance gene test showing homozygous gene mutation c. 1844G>T(p.Gly615Val).The literature search retrieved a total of 3 articles and reported 5 Pompe disease infants with intrauterine onset. So there was a total of 6 cases,among whom,4 cases showing hypertrophic cardiomyopathy, 1 case with dilated cardiomyopathy, and 1 case had myocardial "mass". All cases had creatine kinase(CK) elevation, GAA decrease and gene mutation.2 cases needed ventilator assisted support and 4 cases were treated with enzyme replacement therapy(ERT), one of whom died at 14months; 2 patients without ERT treatment progressed rapidly, and our patient died at 7 months of age.Conclusion: Infants with intrauterine-onset Pompe disease mostly have early manifestations of heart disease. GAA determination and molecular genetic testing as soon as possible are helpful for parents to make early decision and early treatment.

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Unusual Cardiac “Masses” in a Newborn with Infantile Pompe Disease

Cited by 6 publications

References 12 publications

Infantile Pompe disease: A case report and review of the Chinese literature

Infantile Pompe disease: A case report and review of the Chinese literature

A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report

A case of infantile Pompe disease with intrauterine onset and literature review

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