Herlyn-Werner-Wunderlich and Prader-Willi syndromes: more than a coincidence?
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.
Department of Pediatrics, Hospital do Divino Espírito Santo, Ponta Delgada, Portugal.
Beatriz
B
Fraga
Department of Pediatrics, Hospital Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal.
Catarina
http://orcid.org/0000-0003-2132-7451
C
Gomes
Department of Pediatrics, Hospital Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal.
Raquel
R
Gouveia
Department of Pediatrics, Hospital Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal.
Graça
G
Oliveira
D000015:Abnormalities, Multiple / Q000175:diagnosis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D011218:Prader-Willi Syndrome / Q000175:diagnosis*; D013577:Syndrome; D014599:Uterus / Q000002:abnormalities*; D014621:Vagina / Q000002:abnormalities*