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Ruben H Willemsen, Violeta Delgado-Carballar, Daniela Elleri, Ajay Thankamony, G A Amos Burke, James C Nicholson, and David B Dunger

paediatrics are scarce. Tolvaptan has been reported in a case series of 28 paediatric patients with heart failure ( 8 ), a patient with restrictive cardiomyopathy ( 9 ) and a patient with massive oedema due to nephrotic syndrome ( 10 ). In these paediatric

Open access

Vinaya Srirangam Nadhamuni, Donato Iacovazzo, Jane Evanson, Anju Sahdev, Jacqueline Trouillas, Lorraine McAndrew, Tom R Kurzawinski, David Bryant, Khalid Hussain, Satya Bhattacharya, and Márta Korbonits

with MEN1. This is the first case of paediatric-onset gigantism from ectopic GHRH in a MEN1 setting to be reported in the literature, to the best of our knowledge. Case presentation An 18-year-old Caucasian male was referred for evaluation of

Open access

Janani Devaraja, Sarah Sloan, Vicki Lee, and Paul Dimitri

well. Eight months prior to presentation, she developed polyuria, polydipsia and nocturia. Six months later, she developed frequent headaches. She then presented acutely to the paediatric team at a District General Hospital with generalised weakness and

Open access

A Chinoy, N B Wright, M Bone, and R Padidela

intracellularly ( 1 ). Central pontine myelinolysis (CPM) is a non-inflammatory demyelinating disorder of the pons, though extra-pontine sites can also be affected; it is very rarely seen in the paediatric population. Although the precise pathophysiology is

Open access

Elaine E Sanderson, Mark Shah, Amanda J Hooper, Damon A Bell, and Catherine S Choong

severe insulin resistance and hyperglycaemia meeting criteria for diabetes, associated with a heterozygous missense mutation, His1157Arg, in the INSR gene. Case presentation An 11-year-old Caucasian girl was referred to outpatient paediatric

Open access

Jaya Sujatha Gopal-Kothandapani, Veejay Bagga, Stephen B Wharton, Daniel J Connolly, Saurabh Sinha, and Paul J Dimitri

paediatric and adult patients reflects the functional impact of pituitary hormone deficiency. Our paediatric patient presented with growth failure and pubertal arrest, whereas our adult patients presented with variable symptoms and signs relating to anterior

Open access

Thien Vinh Luong, Lars Rejnmark, Anne Kirstine Arveschoug, Peter Iversen, and Lars Rolighed

Thompson M Williams M Burgess J . Paediatric and young adult manifestations and outcomes of multiple endocrine neoplasia type 1 . Clinical Endocrinology 2019 91 633 – 638 . ( https://doi.org/10.1111/cen.14067 ) 10.1111/cen.14067 6 Guerin C

Open access

Kara Alex-Ann Beliard, Srinidhi Shyamkumar, Preneet Cheema Brar, and Robert Rapaport

Summary

We describe a case of an infant who presented with clinical features of hyperthyroidism. The child was found to be tachycardic, hypertensive and diaphoretic, she was noted to have poor weight gain and difficulty in sleeping. The child was admitted to the pediatric intensive care unit for care. She was found to have biochemical evidence of hyperthyroidism with positive thyroid stimulating immunoglobulin. She responded well to methimazole and propranolol and had a remarkable recovery. She is the youngest patient to be diagnosed with Graves disease in the English literature, at 12 months of life.

Learning points

  • Hyperthyroidism must always be considered even at very young age, for patient presenting with poor weight gain and hyperdynamic state.

  • Autoimmune diseases are becoming more common in infancy.

  • Craniosynostosis and increased height for age are well-documented consequences of untreated hyperthyroidism in developing children.

Open access

Athanasios Gkirgkinoudis, Christina Tatsi, Stephanie J DeWard, Bethany Friedman, Fabio R Faucz, and Constantine A Stratakis

Summary

SOX5 plays an important role in chondrogenesis and chondrocyte differentiation. SOX5 defects in humans (often deletions) result in a Lamb-Shaffer syndrome (LSS), presenting with speech delay, behavioral problems and minor dysmorphic features. We present a patient with idiopathic short stature (ISS) who carried a heterozygous novel variant in SOX5. The patient had no dysmorphic features, but a skeletal survey revealed minor skeletal abnormalities. Laboratory and endocrine evaluation for known causes of growth disorders was negative. The missense variant in SOX5 gene (c.1783A>G, p.K595E) was de novo and was predicted to be deleterious by in silico programs. In summary, we present a patient whose presentation may provide evidence that gene defects in SOX5 may contribute to the etiology of short stature and/or mild skeletal defects beyond LSS.

Learning points:

  • We report a girl with idiopathic short stature and mild skeletal defects presenting with a de novo variant in SOX5 gene, predicted in silico to be deleterious.

  • Although SOX5 has not been previously specifically associated with short stature, several evidences support its contributing effect on dyschondrogenesis.

  • Missense variants in SOX5 gene may lead to mild phenotypes, differing from typical presentation of patients with Lamb-Shaffer syndrome.

Open access

Darija Tudor, Iva Kolombo, Ana Tot, Drasko Cikojevic, Marko Simunovic, and Veselin Skrabic

Summary

This is a case report of a child with chronic hyponatremia due to the syndrome of inappropriate antidiuretic hormone secretion (SIADH) as a paraneoplastic manifestation of olfactory neuroblastoma (OFN). We hereby report a clinical presentation as well as a pragmatic approach to one of the most common electrolytic disorders in the pediatric population and have emphasized the necessity of involving the sinonasal area in the diagnostic procedure while evaluating possible causes of SIADH. This report indicates that the chronicity of the process along with the gradual onset of hyponatremia occurrence is responsible for the lack of neurological symptoms at the moment of disease presentation.

Learning points

  • Hyponatremia is not infrequently attributed to SIADH.

  • Paraneoplastic syndromes are uncommon but they should be considered in the differential diagnosis of pediatric SIADH.

  • Chronic insidious hyponatremia may not be associated with clear neurological symptoms despite its severity.