A Neonate with Mucopolysaccharidosis Type VII with Intractable Ascites

AJP Reports · 9 authors, 5 centres

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TL;DR

This is a case report of a neonate with severe Mucopolysaccharidosis Type VII (MPS VII) diagnosed after presenting with fetal hydrops and refractory ascites. The key result is the patient survived to be discharged at 5 months of age after intensive care management, including whole-exome sequencing for diagnosis.

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Despite the ascites persisting for over 5 months, lung-protective respiratory management and early enteral nutrition were employed. The patient was discharged at 5 months of age on home oxygen and gastric tube feeding, with enzyme replacement therapy initiated at 7 months leading to resolution of ascites and scrotal edema. The report highlights the survival of a severe case, which is rare, and underscores the importance of careful intensive care and early genetic diagnosis for refractory ascites in non-immune fetal hydrops.

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case_report

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pediatrics

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ORIGINAL PAPER

PMC10019997

A Neonate with Mucopolysaccharidosis Type VII with Intractable Ascites

AJP Reports

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ABSTRACT

Abstract We report a case of a patient with severe fetal hydrops and refractory ascites, diagnosed as mucopolysaccharidosis type VII (MPS VII) by whole-exome sequencing, and discharged at 5 months of age after long-term ventilatory management. A male neonate was born by emergency cesarean section due to fetal distress at 30 1/7 weeks' gestation. Physical examination and X-rays revealed pleural effusion, ascites, and generalized edema, indicating severe fetal hydrops. He underwent tracheal intubation because of respiratory distress that was attributed to massive ascites, pulmonary hypoplasia, and pulmonary hypertension. He received mechanical ventilation and inhaled nitric oxide therapy. Prednisone, octreotide, and a factor XIII preparation were used as the treatment for ascites, and the ascites gradually decreased. He was extubated within 2 months of age. At 4 months of age, the results of whole-exome sequencing of the cord blood showed a compound heterozygous mutation in the GUSB gene, the gene responsible for MPS VII. Enzyme replacement therapy was initiated, and the ascites was resolved. Careful systemic management, including lung-protective respiratory management and the early establishment of nutrition, is important for the long-term survival of infants with fetal hydrops, and early aggressive workup, including whole-genome sequencing for the cause, should be performed in the case of refractory ascites. Keywords: MPS VII, GUSB gene , fetal hydrops, refractory ascites

CITATION EXPORT

Kana Fukui, Shoichiro Amari, Nobuyuki Yotani et al.. A Neonate with Mucopolysaccharidosis Type VII with Intractable Ascites. AJP Reports. (2023). https://doi.org/10.1055/a-2028-7784

AUTHORS

9 · 5 CENTRES

Kana Fukui, Shoichiro Amari, Nobuyuki Yotani, Rika Kosaki, Kenichiro Hata, Motomichi Kosuga, Haruhiko Sago, Tetsuya Isayama, Yushi Ito

1Division of Neonatology, National Center for Child Health and Development, Tokyo, Japan
2Division of Palliative Medicine, National Center for Child Health and Development, Tokyo, Japan
3Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan
4Department of Maternal-Fetal Biology, National Center for Child Health and Development, Tokyo, Japan
5Center for Maternal-Fetal, Neonatal, and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan