Beckwith–Wiedemann syndrome and recurrent bilateral renal calculi
نویسندگان
چکیده
Physicians should be aware of the manifestations of medullary sponge kidney and nephrocalcinosis in patients with Beckwith–Wiedemann syndrome. In addition to nephrocalcinosis, renal cysts, recurrent pain associated with infundibular stenoses, nephroblastomatosis, and Wilms tumor have also been reported.[3] As shown in our case presentation, patients with medullary sponge kidney usually form calcium phosphate in their stones due to their increased urinary pH.[1,4] Although hypercalciuria was not found in our case, hypercalciuria has also been described in patients with Beckwith–Wiedemann syndrome.[5]
منابع مشابه
A case report of beckwith-wiedemann syndrome
beckwith and wiedemann for the first time described a syndrome characterised by macroglossia,macrosomia and omphalocele.nowadays inaddition to the above symptoms,visceromegaly,mild microcephaly,facial nevus flammeus,earlobe cerase,persistent neonatal hypoglycemia,and polycythemia are also considered various manifestations of Beckwith-Wiedemann syndrome. This study report a female neonate with ...
متن کاملSonographic Assessment of Renal Growth in Patients with Beckwith-Wiedemann Syndrome: The Beckwith-Wiedemann Syndrome Renal Nomogram
BACKGROUND Beckwith-Wiedemann syndrome is a disorder of somatic overgrowth. Evidence of kidney overgrowth is a diagnostic criterion that may be used to help identify those patients who are at the greatest risk of developing Wilms tumors. In such subjects, kidney size is typically larger than that of age-matched normal controls. OBJECTIVE The purpose of our study was to generate a nomogram tha...
متن کاملBilateral Renal Dysplasia, Nephroblastomatosis, and Bronchial Stenosis. A New Syndrome?
Bilateral nephroblastomatosis (NB) is an uncommon renal anomaly characterized by multiple confluent nephrogenic rests scattered through both kidneys, with only a limited number of cases reported in the medical literature. Some of these children may have associated either Perlman or Beckwith-Wiedemann syndrome and others do not demonstrate syndromic features. We report a full-term boy with antev...
متن کاملBilateral benign haemorrhagic adrenal cysts in Beckwith-Wiedemann syndrome: case report.
Beckwith-Wiedemann syndrome is the most common overgrowth malformation syndrome. The classical features include macrosomia, macroglossia, omphalocele and ear lobe anomalies. Among the associated adrenal anomalies, foetal cortical cytomegaly, outer cortical haemorrhage and unilateral benign cysts are well described. A term neonate was admitted with typical features of the syndrome. Radiological ...
متن کامل46,XX ovotesticular disorder in a Mexican patient with Beckwith–Wiedemann syndrome: a case report
INTRODUCTION Beckwith-Wiedemann syndrome is an overgrowth syndrome that is characterized by hypoglycemia at birth, coarse face, hemihypertrophy and an increased risk to develop embryonal tumors. In approximately 15% of patients, the inheritance is autosomal dominant with variable expressivity and incomplete penetrance, whereas the remainder of Beckwith-Wiedemann syndrome cases are sporadic. Bec...
متن کامل