ESPE Abstracts

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease characterised by neonatal/earlier-onset non-immune insulin –requiring diabetes associated with skeletal dysplasia and growth retardation. WRS is caused by mutations in the gene encoding eukaryoutic translation initiation factor 2 a kinase (EIF2AK3), which plays a key role in translation control during the unfolded protein response. In the endocrinological department of Ternopil Childrens’ Hospital ...

Background: GAIA is a health service of Meyer Children Hospital composed of a multidisciplinary team specialized in the management of children victims of child abuse. Sexual abuse occurs when a child is engaged in sexual activities that cannot comprehend, for which the child is developmentally unprepared and cannot give consent, and/or that violate the law or social taboos of society. The sexual activities may include all forms of oral-genital, genital, or anal contact by or t...

Objective: This study was to measure quality of life (QOL) of the primary caregivers for young children with Prader-Willi syndrome (PWS).Methods: The children with PWS consisted of 32 children. The QOL of the caregiver for each patient was assessed using the Chinese version of the WHOQOL-BREF, and the Infants-Junior Middle School Students' Social-Life Abilities Scale was used to evaluate the social adaption capacity ...

Background: Fahr syndrome is a rare degenerative disease, characterized by the presence of calcification of the basal ganglia.Autosomal recessive or dominant, variable penetrance.Usually asymptomatic in the first 2 decades, the disease typically manifests itself either at 30 years of age by the appearance of neuropsychiatric disorders, or at age 60 by progressive dementia with extrapyramidal syndrome.Case p...

The approach to the management of a child presenting with Hypo or Hypercalcaemia requires an understanding of the physiological regulation of plasma calcium and the key hormones and receptors that are important components. These include Vitamin D, Parathyroid hormone (PTH), the Calcium sensing receptor and renal function. The differential diagnosis for both these conditions is wide and it is important that relevant investigations are undertaken at presentation prior to the ini...

Case report: Atypical presentation of adrenal insufficiency: 13 year old presented with vomiting (one day), lethargy two weeks. mild dehydration, vitals stable, generally healthy, examination unremarkable, medication nill, history of insect bite two weeks ago, no allergies, started on I. V maintenance fluids, investigations (blood) normal, the only abnormal was low soduim, normal glucose and potassium, soduim was 122 mol/l, repeated soduim was 119 after the maintain ace 0.9% n...

Differences of sex development (DSD) occur in about 1 in 3000 newborns in Switzerland. The indication and timing of genitoplasty in children with DSDs is a complex issue. In 2012 the Swiss National Advisory Commission on Biomedical Ethics published its position against early irreversible interventions in order to "normalize" the aspect of the external genitalia.We report the case of a child with a 46,XX DSD due to a classical form of congenital a...

A 13 months old infant, presented with failure to thrive, untreated congenital hypothyroidism and pseudo-hypertrophy of limb muscles (i.e. Kocher-Debre-Semelaigne syndrome). The child had delayed motor and mental development. Thyroxin replacement therapy, as well as nutritional support, was initiated.Two to three weeks after treatment introduction, the motor and cognitive developments were accelerated with striking improvement as if global growth was sto...

We have examined a female child patient aged about 3 years and 8months old to confirm the diagnosis of Schmid metaphyseal chondrodysplasia (SMCD) at the Genetics out-patient department, Children's Hospital Affiliated to Zhengzhou University. The child was diagnosed with the abnormal phenotypic characteristics who showed short-limbed dwarfism, bowed legs, waddling gait and genu varum. Based on the child's family history, during the early stages, the child was misdiagnos...

We have examined a male child patient aged about 15 years old to confirm the diagnosis of adrenal hypoplasia congenital (AHC) at the Genetics in-patient department, Children's Hospital Affiliated to Zhengzhou University.When the child was 5 years and 9 months,he was diagnosed as abmormal phenotypic characteristics who had skin hyperpigmentation, penis enlargement, rapid growth over the past 2 years, along with fatigue, drowsiness, and pubic hair appearing for 2 months.Base...