Elevated alpha-fetoprotein in a 3-month-old infant: the significance in a patient with beckwith-wiedemann syndrome
A 3-month-old female infant with omphalocele, posterior cleft palate and bilateral hydronephrosis was inadvertently discovered to have macroglossia, hepatomegaly, and facial nevus flammeus during hospitalisation for community-acquired pneumonia. A clinical diagnosis of Beckwith-Wiedemann syndrome (B...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Universiti Putra Malaysia
2023
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| Online Access: | http://psasir.upm.edu.my/id/eprint/107647/1/2023122608303112_2023-0283.pdf |
| _version_ | 1811137806349631488 |
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| author | Wong, Suet Yin Samsudin, Intan Nureslyna Abdul Hamid, Hanisah C. Thambiah, Subashini Lai, Yin Ye Zahari Sham, Siti Yazmin |
| author_facet | Wong, Suet Yin Samsudin, Intan Nureslyna Abdul Hamid, Hanisah C. Thambiah, Subashini Lai, Yin Ye Zahari Sham, Siti Yazmin |
| author_sort | Wong, Suet Yin |
| collection | UPM |
| description | A 3-month-old female infant with omphalocele, posterior cleft palate and bilateral hydronephrosis was inadvertently discovered to have macroglossia, hepatomegaly, and facial nevus flammeus during hospitalisation for community-acquired pneumonia. A clinical diagnosis of Beckwith-Wiedemann syndrome (BWS), a disease with a higher predisposition to developing embryonal tumours was made. A liver ultrasound revealed a haemangioma at section VIII with the absence of hepatoblastoma. A serum alpha-fetoprotein (AFP) of 413 IU/mL was initially a concern given it was 60 times higher than the stated reference interval but was noted to be age-appropriate and related to the patient’s underlying disease. This case report highlights the importance of reporting an AFP age-specific reference interval as well as the necessity of monitoring AFP in a child with BWS due to the higher risk of hepatoblastoma. |
| first_indexed | 2024-09-25T03:40:09Z |
| format | Article |
| id | upm.eprints-107647 |
| institution | Universiti Putra Malaysia |
| language | English |
| last_indexed | 2024-09-25T03:40:09Z |
| publishDate | 2023 |
| publisher | Universiti Putra Malaysia |
| record_format | dspace |
| spelling | upm.eprints-1076472024-09-12T03:57:16Z http://psasir.upm.edu.my/id/eprint/107647/ Elevated alpha-fetoprotein in a 3-month-old infant: the significance in a patient with beckwith-wiedemann syndrome Wong, Suet Yin Samsudin, Intan Nureslyna Abdul Hamid, Hanisah C. Thambiah, Subashini Lai, Yin Ye Zahari Sham, Siti Yazmin A 3-month-old female infant with omphalocele, posterior cleft palate and bilateral hydronephrosis was inadvertently discovered to have macroglossia, hepatomegaly, and facial nevus flammeus during hospitalisation for community-acquired pneumonia. A clinical diagnosis of Beckwith-Wiedemann syndrome (BWS), a disease with a higher predisposition to developing embryonal tumours was made. A liver ultrasound revealed a haemangioma at section VIII with the absence of hepatoblastoma. A serum alpha-fetoprotein (AFP) of 413 IU/mL was initially a concern given it was 60 times higher than the stated reference interval but was noted to be age-appropriate and related to the patient’s underlying disease. This case report highlights the importance of reporting an AFP age-specific reference interval as well as the necessity of monitoring AFP in a child with BWS due to the higher risk of hepatoblastoma. Universiti Putra Malaysia 2023-12 Article PeerReviewed text en http://psasir.upm.edu.my/id/eprint/107647/1/2023122608303112_2023-0283.pdf Wong, Suet Yin and Samsudin, Intan Nureslyna and Abdul Hamid, Hanisah and C. Thambiah, Subashini and Lai, Yin Ye and Zahari Sham, Siti Yazmin (2023) Elevated alpha-fetoprotein in a 3-month-old infant: the significance in a patient with beckwith-wiedemann syndrome. Lab Medicine And Research In Pathology, 19 (supp.16). pp. 68-70. ISSN 2636-9346; ESSN: 1675-8544 https://medic.upm.edu.my/jurnal_kami/volume_19_2023/mjmhs_vol19_supp_16_december_2023-77004 10.47836/mjmhs.19.s16.13 |
| spellingShingle | Wong, Suet Yin Samsudin, Intan Nureslyna Abdul Hamid, Hanisah C. Thambiah, Subashini Lai, Yin Ye Zahari Sham, Siti Yazmin Elevated alpha-fetoprotein in a 3-month-old infant: the significance in a patient with beckwith-wiedemann syndrome |
| title | Elevated alpha-fetoprotein in a 3-month-old infant: the significance in a patient with beckwith-wiedemann syndrome |
| title_full | Elevated alpha-fetoprotein in a 3-month-old infant: the significance in a patient with beckwith-wiedemann syndrome |
| title_fullStr | Elevated alpha-fetoprotein in a 3-month-old infant: the significance in a patient with beckwith-wiedemann syndrome |
| title_full_unstemmed | Elevated alpha-fetoprotein in a 3-month-old infant: the significance in a patient with beckwith-wiedemann syndrome |
| title_short | Elevated alpha-fetoprotein in a 3-month-old infant: the significance in a patient with beckwith-wiedemann syndrome |
| title_sort | elevated alpha fetoprotein in a 3 month old infant the significance in a patient with beckwith wiedemann syndrome |
| url | http://psasir.upm.edu.my/id/eprint/107647/1/2023122608303112_2023-0283.pdf |
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