A neonate with a prenatal diagnosis of left renal agenesis was born at 33 weeks gestation. A postnatal abdominal ultrasound confirmed the absence of the left kidney and revealed two non-divergent hemiuteri, consistent with the diagnosis of Herlyn-Werner-Wunderlich syndrome. During admission, significant axial hypotonia was noted, warranting additional investigations. Brain ultrasounds and MRI were normal, as were a preliminary metabolic study and comparative genomic hybridisation array. DNA methylation testing confirmed the diagnosis of Prader-Willi syndrome. The baby was discharged after 70 days, breast feeding and with modest hypotonia improvement.
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http://dx.doi.org/10.1136/bcr-2015-212597 | DOI Listing |
Endocrinol Diabetes Nutr (Engl Ed)
April 2024
Endocrinology and Nutrition Department, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT-CERCA-ISCIII, Department of Medicine, Universitat Autònoma de Barcelona, Sabadell, Barcelona, Spain.
Herlyn-Werner-Wunderlich syndrome is an uncommon urogenital anomaly defined by uterus didelphys, obstructed hemi-vagina and unilateral renal anomalies. The most common clinical presentation is dysmenorrhoea following menarche, but it can also present as pain and an abdominal mass. Prader-Willi syndrome is a rare neuroendocrine genetic syndrome.
View Article and Find Full Text PDFBMJ Case Rep
October 2015
Department of Pediatrics, Hospital Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal.
A neonate with a prenatal diagnosis of left renal agenesis was born at 33 weeks gestation. A postnatal abdominal ultrasound confirmed the absence of the left kidney and revealed two non-divergent hemiuteri, consistent with the diagnosis of Herlyn-Werner-Wunderlich syndrome. During admission, significant axial hypotonia was noted, warranting additional investigations.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!