Infantile Pompe disease with intrauterine onset: a case report and literature review
Abstract Background Pompe disease is a rare autosomal recessive disease. Acid alpha−glucosidase (GAA) deficiency leads to glycogen storage in lysosomes, causing skeletal, cardiac, and smooth muscle lesions. Pompe disease is progressive, and its severity depends on the age of onset. Classic infantile...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-11-01
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| Series: | Italian Journal of Pediatrics |
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| Online Access: | https://doi.org/10.1186/s13052-022-01379-3 |
| _version_ | 1811304551730380800 |
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| author | Hongmin Xi Xianghong Li Lili Ma Xiangyun Yin Ping Yang Lulu Zhang |
| author_facet | Hongmin Xi Xianghong Li Lili Ma Xiangyun Yin Ping Yang Lulu Zhang |
| author_sort | Hongmin Xi |
| collection | DOAJ |
| description | Abstract Background Pompe disease is a rare autosomal recessive disease. Acid alpha−glucosidase (GAA) deficiency leads to glycogen storage in lysosomes, causing skeletal, cardiac, and smooth muscle lesions. Pompe disease is progressive, and its severity depends on the age of onset. Classic infantile Pompe disease, the most severe form, is characterized by an age of onset before 12 months. Pompe disease with intrauterine onset has rarely been reported. Case presentation The proband was born at a gestational age of 40 weeks and 3 days and admitted to our hospital because of intrauterine cardiac hypertrophy, shortness of breath, and cyanosis until 13 min postnatally. Physical examination at admission revealed poor responsiveness, pale skin, shortness of breath, reduced limb muscle tone, and bilateral pedal edema. The heart sounds were weak, and no heart murmur was heard. Echocardiography showed left (9 mm) and right (5 mm) ventricular hypertrophies. The patient was subjected to non−invasive ventilator−assisted respiration, fluid restriction, diuresis, and metoprolol treatment. Infantile Pompe disease was diagnosed on day 16 with a GAA enzymatic activity of 0.31 µmol/L/h and with the full−penetrance genetic test showing the homozygous gene mutation c.1844G>T(p.Gly615Val). Enzyme replacement therapy was refused by the patient’s parents, and the patient died at seven months of age from cardiopulmonary failure. Conclusion Infants with intrauterine−onset Pompe disease usually have early manifestations of heart disease. Prompt GAA enzymatic activity determination and molecular genetic testing are helpful in aiding the parents’ decision and planning the treatment. |
| first_indexed | 2024-04-13T08:09:07Z |
| format | Article |
| id | doaj.art-8d401999ef42405c9ec40fce94cd7f87 |
| institution | Directory Open Access Journal |
| issn | 1824-7288 |
| language | English |
| last_indexed | 2024-04-13T08:09:07Z |
| publishDate | 2022-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Italian Journal of Pediatrics |
| spelling | doaj.art-8d401999ef42405c9ec40fce94cd7f872022-12-22T02:55:03ZengBMCItalian Journal of Pediatrics1824-72882022-11-014811810.1186/s13052-022-01379-3Infantile Pompe disease with intrauterine onset: a case report and literature reviewHongmin Xi0Xianghong Li1Lili Ma2Xiangyun Yin3Ping Yang4Lulu Zhang5Neonatology Department, The Affiliated Hospital of Qingdao UniversityNeonatology Department, The Affiliated Hospital of Qingdao UniversityNeonatology Department, The Affiliated Hospital of Qingdao UniversityNeonatology Department, The Affiliated Hospital of Qingdao UniversityNeonatology Department, The Affiliated Hospital of Qingdao UniversityNeonatology Department, The Affiliated Hospital of Qingdao UniversityAbstract Background Pompe disease is a rare autosomal recessive disease. Acid alpha−glucosidase (GAA) deficiency leads to glycogen storage in lysosomes, causing skeletal, cardiac, and smooth muscle lesions. Pompe disease is progressive, and its severity depends on the age of onset. Classic infantile Pompe disease, the most severe form, is characterized by an age of onset before 12 months. Pompe disease with intrauterine onset has rarely been reported. Case presentation The proband was born at a gestational age of 40 weeks and 3 days and admitted to our hospital because of intrauterine cardiac hypertrophy, shortness of breath, and cyanosis until 13 min postnatally. Physical examination at admission revealed poor responsiveness, pale skin, shortness of breath, reduced limb muscle tone, and bilateral pedal edema. The heart sounds were weak, and no heart murmur was heard. Echocardiography showed left (9 mm) and right (5 mm) ventricular hypertrophies. The patient was subjected to non−invasive ventilator−assisted respiration, fluid restriction, diuresis, and metoprolol treatment. Infantile Pompe disease was diagnosed on day 16 with a GAA enzymatic activity of 0.31 µmol/L/h and with the full−penetrance genetic test showing the homozygous gene mutation c.1844G>T(p.Gly615Val). Enzyme replacement therapy was refused by the patient’s parents, and the patient died at seven months of age from cardiopulmonary failure. Conclusion Infants with intrauterine−onset Pompe disease usually have early manifestations of heart disease. Prompt GAA enzymatic activity determination and molecular genetic testing are helpful in aiding the parents’ decision and planning the treatment.https://doi.org/10.1186/s13052-022-01379-3Pompe diseaseGlycogen storage disease type IIAcid maltase deficiencyIntrauterine onset |
| spellingShingle | Hongmin Xi Xianghong Li Lili Ma Xiangyun Yin Ping Yang Lulu Zhang Infantile Pompe disease with intrauterine onset: a case report and literature review Italian Journal of Pediatrics Pompe disease Glycogen storage disease type II Acid maltase deficiency Intrauterine onset |
| title | Infantile Pompe disease with intrauterine onset: a case report and literature review |
| title_full | Infantile Pompe disease with intrauterine onset: a case report and literature review |
| title_fullStr | Infantile Pompe disease with intrauterine onset: a case report and literature review |
| title_full_unstemmed | Infantile Pompe disease with intrauterine onset: a case report and literature review |
| title_short | Infantile Pompe disease with intrauterine onset: a case report and literature review |
| title_sort | infantile pompe disease with intrauterine onset a case report and literature review |
| topic | Pompe disease Glycogen storage disease type II Acid maltase deficiency Intrauterine onset |
| url | https://doi.org/10.1186/s13052-022-01379-3 |
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