A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious puberty
-
Elif Ozsu
,
Askın Sen
Abstract
Background:
Bannayan Riley Ruvalcaba syndrome (BRRS) is exceedingly rare, with only about 50 reported cases to date.
Case presentation:
We report a patient with hypoglycemia, precocious puberty and diffuse testicular microlithiasis accompanying BRRS, and think that this case is important in the light of a newly identified mutation in the PTEN gene.
Conclusions:
Close attention must be paid in terms of PTEN mutations in cases of macrocephaly and accompanying neurological and dermatological findings.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2018 Walter de Gruyter GmbH, Berlin/Boston
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- Editorial
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- Review
- Allergic and non-allergic skin reactions associated with growth hormone therapy: elucidation of causative agents
- Original Articles
- Adherence to growth hormone therapy in children and its potential barriers
- Short-term adverse effects of testosterone used for priming in prepubertal boys before growth hormone stimulation test
- Growth response to growth hormone treatment in patients with SHOX deficiency can be predicted by the Cologne prediction model
- WHO 2006 Child Growth Standards overestimate short stature and underestimate overweight in Japanese children
- Identifying depressive symptoms among diabetes type and the impact on hemoglobin A1c
- Insulin resistance and lung function in obese asthmatic pre-pubertal children
- Obesity is associated with vitamin D deficiency in Danish children and adolescents
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- Molecular basis and clinical presentation of classic galactosemia in a Croatian population
- Clinical outcome in a series of pediatric patients with congenital generalized lipodystrophies treated with dietary therapy
- Letter to the Editor
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- Case Reports
- Sirolimus therapy for congenital hyperinsulinism in an infant with a novel homozygous KCNJ11 mutation
- Veganism as a cause of iodine deficient hypothyroidism
- A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious puberty
- Addison’s disease presenting with perimyocarditis
Articles in the same Issue
- Frontmatter
- Editorial
- Growth and growth hormone: recent papers on efficacy and adverse effects of growth hormone and World Health Organisation growth standards
- Review
- Allergic and non-allergic skin reactions associated with growth hormone therapy: elucidation of causative agents
- Original Articles
- Adherence to growth hormone therapy in children and its potential barriers
- Short-term adverse effects of testosterone used for priming in prepubertal boys before growth hormone stimulation test
- Growth response to growth hormone treatment in patients with SHOX deficiency can be predicted by the Cologne prediction model
- WHO 2006 Child Growth Standards overestimate short stature and underestimate overweight in Japanese children
- Identifying depressive symptoms among diabetes type and the impact on hemoglobin A1c
- Insulin resistance and lung function in obese asthmatic pre-pubertal children
- Obesity is associated with vitamin D deficiency in Danish children and adolescents
- Daily sitting time associated with the risk of metabolic syndrome in Korean adolescents
- Molecular basis and clinical presentation of classic galactosemia in a Croatian population
- Clinical outcome in a series of pediatric patients with congenital generalized lipodystrophies treated with dietary therapy
- Letter to the Editor
- Spondyloepiphyseal or spondylometaphyseal dysplasia in ancient Greek art
- Case Reports
- Sirolimus therapy for congenital hyperinsulinism in an infant with a novel homozygous KCNJ11 mutation
- Veganism as a cause of iodine deficient hypothyroidism
- A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious puberty
- Addison’s disease presenting with perimyocarditis
