Abstract
Myhre syndrome is a rare condition caused by a mutation in the SMAD4 gene, which leads to a defective TGF-β/BMP signaling, resulting in the proliferation of abnormal fibrous tissues. Clinically, patients with Myhre syndrome manifest with defects of connective tissue (skin, muscles, joints), and cardiovascular and neurological impairment. In our report, we present a case of a 16-year-old female with skeletal abnormalities, reduced articular mobility, skin, and muscular hypertrophy and cardiovascular defects characteristic of Myhre syndrome. Long-term pulmonary hypertension and arterial hypertension were persistent in spite of antihypertensive treatment. Our patient was also diagnosed with chronic kidney disease and Dunbar syndrome, which is an external compression of the coeliac trunk or coeliac artery by the surrounding tissues. Until now, only a few cases of renal complications in Myhre syndrome have been published. We describe for the first time a female patient with genetically confirmed Myhre syndrome caused by the p.Ile500Val SMAD4 mutation presenting with an unusual occurrence of congenital vesicoureteral reflux, proteinuria with a decreased renal function, and a condition recognized as Dunbar syndrome.
Highlights
Specialty section: This article was submitted to Pediatric Nephrology, a section of the journalFrontiers in PediatricsReceived: 10 September 2019Accepted: 13 February 2020Published: 27 February 2020Citation: Varenyiova Z, Hrckova G, Ilencikova D and Podracka L (2020) MyhreSyndrome Associated With DunbarSyndrome and Urinary TractAbnormalities: A Case Report.Front
We present the case of a newly diagnosed 16-year-old female patient with a typical clinical picture of Myhre syndrome combined with rarely seen renal abnormalities and a distinct vascular condition: Dunbar syndrome
We propose that both vesicoureteral reflux and systemic arterial hypertension contributed to the progression of chronic kidney disease in our patient
Summary
Specialty section: This article was submitted to Pediatric Nephrology, a section of the journal. We present the case of a newly diagnosed 16-year-old female patient with a typical clinical picture of Myhre syndrome combined with rarely seen renal abnormalities and a distinct vascular condition: Dunbar syndrome. MmHg (>99th percentile based on the patient’s height and age) without nocturnal dipping, despite the fact that the patient was regularly administered a combination of antihypertensive drugs We propose that both vesicoureteral reflux and systemic arterial hypertension contributed to the progression of chronic kidney disease in our patient. On an X-ray, thickened calvarium, scoliosis, fusion of two cervical vertebrae, spina bifida occulta, and the shortened epiphysis of both femoral bones were present The anthropometry at her decimal age of 16.7 years showed a borderline-low head circumference −1.4 SD (52.7 cm, 25–10th percentile), short stature −4.4 SD (140 cm, below 3rd percentile), excessive body weight compared to her height +3.0 SD (60 kg, above 98th percentile). The SMAD4 causative variant (p.Ile500Val) was confirmed in the patient and excluded in her parents by Sanger sequencing
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