Unusual Presentation of Atypical Infantile Pompe Disease in the Newborn Period with Left Ventricular Hypertrophy
Pompe disease, also known as glycogen storage disease Type II, is a lysosomal storage disorder caused by α-glucosidase deficiency. In general, the clinical spectrum varies with respect to the age of onset, residual enzyme activity and organ involvement. Infantile onset disease has two subtypes: cl...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2017-05-01
|
| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/9849/20756_CE[Ra1]_F(DK)_PF1(RB_RK)_PFA(RB_SS).pdf |
| _version_ | 1818901797388943360 |
|---|---|
| author | Sanjay Kumar Amit Kumar |
| author_facet | Sanjay Kumar Amit Kumar |
| author_sort | Sanjay Kumar |
| collection | DOAJ |
| description | Pompe disease, also known as glycogen storage disease Type II, is a lysosomal storage disorder caused by α-glucosidase deficiency.
In general, the clinical spectrum varies with respect to the age of onset, residual enzyme activity and organ involvement. Infantile onset
disease has two subtypes: classical and non-classical (atypical). This case report describes the case of a newborn who presented with
generalized hypotonia and elevated serum enzyme levels of aspartate aminotransferase 93 IU/L, lactate dehydrogenase 888 IU/L and
creatine kinase 670 µg/L. The electrocardiogram showed short PR interval with large QRS complexes with echocardiography suggesting
evidence of left ventricular hypertrophy with infiltration in its walls. 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 1.42 units, normal range 5.5 to 29.6 units, leading to a diagnosis of Pompe disease (atypical infantile). Recognizing this disease and
initiating enzyme replacement therapy in infants at the earliest can improve the quality of life of patients. |
| first_indexed | 2024-12-19T20:25:28Z |
| format | Article |
| id | doaj.art-586d6ddc76f946f7a5d557461fd7c792 |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-12-19T20:25:28Z |
| publishDate | 2017-05-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-586d6ddc76f946f7a5d557461fd7c7922022-12-21T20:06:50ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2017-05-01115SD01SD0210.7860/JCDR/2017/20756.9849Unusual Presentation of Atypical Infantile Pompe Disease in the Newborn Period with Left Ventricular HypertrophySanjay Kumar0Amit Kumar1Senior Resident, Department of Paediatrics, AIIMS, New Delhi, India.Senior Resident, Department of Paediatrics, VMMC and Safdarjung Hospital, New Delhi, India.Pompe disease, also known as glycogen storage disease Type II, is a lysosomal storage disorder caused by α-glucosidase deficiency. In general, the clinical spectrum varies with respect to the age of onset, residual enzyme activity and organ involvement. Infantile onset disease has two subtypes: classical and non-classical (atypical). This case report describes the case of a newborn who presented with generalized hypotonia and elevated serum enzyme levels of aspartate aminotransferase 93 IU/L, lactate dehydrogenase 888 IU/L and creatine kinase 670 µg/L. The electrocardiogram showed short PR interval with large QRS complexes with echocardiography suggesting evidence of left ventricular hypertrophy with infiltration in its walls. 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 1.42 units, normal range 5.5 to 29.6 units, leading to a diagnosis of Pompe disease (atypical infantile). Recognizing this disease and initiating enzyme replacement therapy in infants at the earliest can improve the quality of life of patients.https://jcdr.net/articles/PDF/9849/20756_CE[Ra1]_F(DK)_PF1(RB_RK)_PFA(RB_SS).pdfenzyme replacement therapylysosomesnon-classical (atypical) |
| spellingShingle | Sanjay Kumar Amit Kumar Unusual Presentation of Atypical Infantile Pompe Disease in the Newborn Period with Left Ventricular Hypertrophy Journal of Clinical and Diagnostic Research enzyme replacement therapy lysosomes non-classical (atypical) |
| title | Unusual Presentation of Atypical Infantile Pompe Disease in the Newborn Period with Left Ventricular Hypertrophy |
| title_full | Unusual Presentation of Atypical Infantile Pompe Disease in the Newborn Period with Left Ventricular Hypertrophy |
| title_fullStr | Unusual Presentation of Atypical Infantile Pompe Disease in the Newborn Period with Left Ventricular Hypertrophy |
| title_full_unstemmed | Unusual Presentation of Atypical Infantile Pompe Disease in the Newborn Period with Left Ventricular Hypertrophy |
| title_short | Unusual Presentation of Atypical Infantile Pompe Disease in the Newborn Period with Left Ventricular Hypertrophy |
| title_sort | unusual presentation of atypical infantile pompe disease in the newborn period with left ventricular hypertrophy |
| topic | enzyme replacement therapy lysosomes non-classical (atypical) |
| url | https://jcdr.net/articles/PDF/9849/20756_CE[Ra1]_F(DK)_PF1(RB_RK)_PFA(RB_SS).pdf |
| work_keys_str_mv | AT sanjaykumar unusualpresentationofatypicalinfantilepompediseaseinthenewbornperiodwithleftventricularhypertrophy AT amitkumar unusualpresentationofatypicalinfantilepompediseaseinthenewbornperiodwithleftventricularhypertrophy |