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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

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

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

Endocrine and Metabolic Disorders 2020 21 77 – 88 . ( https://doi.org/10.1007/s11154-019-09529-5 ) 5 Herath M Parameswaran V Thompson M Williams M Burgess J . Paediatric and young adult manifestations and outcomes of multiple endocrine

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:

Open access

Nami Mohammadian Khonsari, Benyamin Hakak-Zargar, Tessa Voth, and Shahab Noorian

Summary

Multiple sulfatase deficiency (MSD) is a lysosomal storage disorder (LSD) that results in the accumulation of sulfate esters which go on to cause neurological deterioration and mental delay, skin changes, and dysmorphism. The disease can be categorized into three subtypes based on the age of onset: neonatal, late infantile, or juvenile. Our patient is a 2.5-year-old girl, the only child of a healthy couple. Prior to the presentation of the disease, she had not been noted to have any previous health complications. The condition began at the age of 6 months with developmental regression and global hypotonia. Following thorough evaluation and testing, the patient was diagnosed with severe late infantile MSD, although some features, such as minimal mental deterioration, minimal dysmorphic facial features, and minimal organ enlargement, did not fully correlate with the diagnosis, since in cases of severe forms of the condition these features are almost always quite marked. The unexpected minimalism of some of the patient’s MSD signs in spite of the severity of her MSD condition made her case worth further studying.

Learning points:

  • Treating dermatologic signs and symptoms greatly eased our patient’s discomfort.
  • We would suggest the use of appropriate supportive treatment for symptom management regardless of the life expectancy of the patient.
  • As regards the diagnosis of MLD, given that in some cases the patient may present with irregular features of the condition, a genetic evaluation may be useful for accurate diagnosis.
  • If motor function impairment is followed by dermatologic involvement, as seen in our patient and in many cases in the literature, MSD must be considered, and additional tests should be done to rule it out.
Open access

Kah-Yin Loke, Andrew Sng Anjian, Yvonne Lim Yijuan, Cindy Ho Wei Li, Maria Güemes, and Khalid Hussain

. She was subsequently followed up at the paediatric endocrine specialist clinic. She experienced no hypoglycaemic episodes and was weaned off glucose polymers and cornstarch with a gradual reduction of diazoxide to a minimum dose of 9 mg/kg/day at 4

Open access

N Amin, N S Alvi, J H Barth, H P Field, E Finlay, K Tyerman, S Frazer, G Savill, N P Wright, T Makaya, and T Mushtaq

regional paediatric endocrinologists and nephrologists. The assays were performed in the SAS Service Steroid Centre, one of three national units performing aldosterone and renin assays for England. Aldosterone is analysed with an in-house RIA. Assays have

Open access

Jordan Yardain Amar, Kimberly Borden, Elizabeth Watson, and Talin Arslanian

Classical and non-classical causes of GH deficiency in the paediatric age . Best Practice and Research Clinical Endocrinology and Metabolism 30 705 – 736 . ( doi:10.1016/j.beem.2016.11.008 ) 3 Giordano M 2016 Genetic causes of isolated and