ECE2015 Eposter Presentations Steroids, development and paediatric endocrinology (36 abstracts)
The beast behind the dwarf
Cosmina Rimbu 1 , Lisandra Damian 1, , Letitia Leustean 1, , Ingrith Miron 2, , Alexandru Florescu 2 , Carmen Vulpoi 1, & Maria Christina Ungureanu 1,
1Endocrinology Clinic, ‘St. Spiridon’ Emergency Clinical Hospital, Iasi, Romania; 2‘Grigore T. Popa’ University of Medicine and Pharmacy, Iasi, Romania; 3Forth Pediatric Clinic, ‘St. Maria’ Hospital, Iasi, Romania.
Abnormalities of growth are one of the most common reasons for the paediatric–endocrinology consults. It’s an obvious manifestation with countless possible causes behind, and sometimes we can have unexpected diagnosis.
Case presentation: we investigated the case of a 4 years old girl, born at term, naturally, SGA: birth weight=1950 g, who presented in the Endocrinology Department for short stature. Clinical evaluation: 89.5 cm (−4 DS), 11 kg (−2.5 DS), discreet ocular asymmetry. Blood test: anaemia, decreased IGF-1, normal adrenal and thyroid function, normal karyotype, normal thoracic X-ray and abdominal ultrasound. Moreover, the first day of admission we noted polyuria and polydipsia not reported by mother: ingestion 3750 ml/24 h excretion 3950 ml/24 h. Afterwards, biochemical tests confirmed the suspicion of diabetes insipidus. Ophthalmologic exam – important papillary oedema. MRI revealed an expansive mass with contrast enhancement located in posterior fossa. An angio MRI and a biopsy were performed and established the final diagnosis: histiocytosis. Even if in our patient’s case, the short stature and diabetes insipidus, were considered initially easy to manage and benign, the histiocytosis was found to be an unexpected and unpleasant diagnosis which involves more aggressive treatment and complications.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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