ESPE2015 Poster Presentations Poster Category 1 Perinatal (11 abstracts)
Atypical Features in Patients with Leprechaunism Suggesting a Wide Clinical Spectrum of Disease
Harshini Katugampola a , Nicola Improda a , Pratik Shah a, , Hannah Gordon a , Rakesh Amin a, , Catherine J Peters a, , Robert K Semple c & Mehul T Dattani a,
aLondon Centre for Paediatric Endocrinology, Great Ormond Street Hospital for Children NHS Trust, London, UK; bInstitute of Child Health, London, UK; cDepartment of Clinical Biochemistry, Institute of Metabolic Science, Addenbrooke’s Hospital, University of Cambridge, Cambridge, UK
Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. Typical features include pre-/postnatal growth impairment, hyperinsulinaemic hyperglycaemia with fasting hypoglycaemia, nephrocalcinosis, recurrent sepsis, little adipose tissue, soft tissue overgrowth, hirsutism, acanthosis nigricans and facial dysmorphism. However, additional comorbidities may be present, affecting prognosis.
Case series: We describe four males with DS, treated with bolus rhIGF-1. Patients 1 and 3 were treated for three months, but manifested severe comorbidities (liver and respiratory failure) and sudden death. Patient 1 received a 3-year rhIGF-1 trial until age 5 years, and was referred at age 11.5 years with diabetes mellitus and recurrent ketoacidosis. Patient 2 received rhIGF-1/IGFBP3 until age 8 years and was then started on rhIGF-1. Table 1 summarizes the clinical picture of our cohort.
| Patient | 1 | 2 | 3 | 4 |
| Mutation | Homozygous p.R1092Q | Paternal c.576C>G, p.l119M and maternal c.334C>T, p.R1039X | Homozygous p.G84Q | Homozygous c.1924T>C, p.W642R |
| Age rhIGF-1 start (years) | 13.3 (second course) | 1.6 | 0.1 | 0.1 |
| RhIGF-1 duration (years) | 0.3 | 10 | 0.3 | 0.5 |
| Age (years)/cause of death | 14.7/unknown (recurrent sepsis and ketoacidosis) | 1.3/liver dysfunction: respiratory infection | ||
| Thyroid | Secondary hypothyroidism | Secondary hypothyroidism | ||
| Skin | Diffuse psoriatic skin rashes | Hyperkeratosis | Hyperkeratosis | |
| Liver | Progressive cirrhosis | Mild cholestasis/hypoalbuminaemia | ||
| Clotting abnormalities | Low factor IX | Prolonged coagulation, deficits in factors II, IX, XI, fibrinogen, ATIII, Prot C | Prolonged coagulation, deficits in factors II, IX, XI, fibrinogen | |
| Eyes | Bilateral cataract probably secondary to hyperglycaemia | Divergent squint astigmatic myopia | ||
| Heart | Mild bi-ventricular hypertrophy | Biventricular hypertrophy | Mild pulmonary valvar stenosis, patent foramen ovale and ductus arteriosus, left ventricular hypertrophy | |
| Gut | Protein losing inflammatory enteropathy | |||
| Electrolyte disturbancies | Hypokalaemia | Hypokalaemia and hyponatreamia |
Conclusion: We report for the first time the presence of clotting abnormalities, diffuse psoriatic skin rashes and protein-losing inflammatory enteropathy in patients with DS. The relationship between additional comorbidities and genotype needs to be defined.
Volume 84
Article tools
My recent searches
My recently viewed abstracts
Authors
ESPE Abstracts
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more