Eva Hoytema van Konijnenburg

University Medical Center Utrecht | UMC Utrecht · Pediatrics metabolic diseases

Mevalonate kinase (MK) deficiency is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the MVK gene with a broad phenotypic spectrum including autoinflammation, developmental delay and ataxia. Typically, neurological symptoms are considered to be part of the severe end of the phenotypical spectrum and are reported to be...

Er zijn veel verschillende oorzaken van ontwikkelingsachterstand, waaronder metabole oorzaken. Van die metabole oorzaken zijn er een paar behandelbaar. Metabool onderzoek heeft een lagere diagnostische opbrengst dan genetisch onderzoek, maar is wel belangrijk voor het snel opsporen van behandelbare aandoeningen. Daarnaast kan metabool onderzoek waa...

We describe a neonate and a 14-month-old child presenting with seizures that were not (completely) controlled with anti-epileptic medications. There were no signs of infection and electrolytes and neuro-imaging were normal. In the neonate, pyridoxine was administered followed by cessation of seizures and a diagnosis of pyridoxine-dependent epilepsy...

Background The Treatable ID App was created in 2012 as digital tool to improve early recognition and intervention for treatable inherited metabolic disorders (IMDs) presenting with global developmental delay and intellectual disability (collectively ‘treatable IDs’). Our aim is to update the 2012 review on treatable IDs and App to capture the advan...

Sexually abused young people often display few or no physical symptoms, and delay of verbal disclosure is common. Based on previous research, we assume that sexually abused children and adolescents may display nonverbal emotional signs, which can be assessed during an investigative interview for suspected child sexual abuse (CSA). We aim to present...

Samenvatting In de huidige richtlijnen wordt aanbevolen om kinderen met dreigende of milde dehydratie door acute gastro-enteritis (AGE) hypo-osmolaire rehydratievloeistof (oral rehydration solution, ORS) te geven. In de praktijk wordt ORS echter vaak geweigerd door kinderen, waarschijnlijk vanwege de zoute smaak. Het doel van dit artikel is te onde...

Claire Lutterman en Wes Onland Dr. E.M.M. Hoytema van Konijnenburg, AIOS kindergeneeskunde, Amsterdam UMC, Amsterdam Drs. C.A.M. Lutterman, kinderarts fellow neonatologie, Amsterdam UMC, Amsterdam Dr. W. Onland, kinderartsneonatoloog, Amsterdam UMC, Amsterdam Leerdoelen Na het lezen van dit artikel:-kent u het wetenschappelijk bewijs voor de effect...

When suspicions of physical abuse arise, children are referred for a child protection medical evaluation, which occurs in a variety of health settings by a variety of clinicians. This comparative vignette survey was performed among a cross‐section of medical professionals engaged in child protection in Sweden, Ireland, the UK and the Netherlands be...

Aim: This was a one-year follow up of families referred to support services after the parents visited the emergency department due to intimate partner violence, substance abuse or a suicide attempt. Its aim was to evaluate the wellbeing of any children. Methods: Data on families identified a year earlier by the Amsterdam Protocol were gathered f...

In de huidige richtlijnen wordt aanbevolen om kinderen met dreigende of milde dehydratie door acute gastro-enteritis hypo-osmolaire rehydratie vloeistof (oral rehydration solution, ORS) te geven. In de praktijk wordt ORS echter vaak geweigerd door kinderen, waarschijnlijk vanwege de zoute smaak. Het doel van dit artikel is om te onderzoeken of in N...

Background: High levels of maltreatment are found in children who are identified because their parents visit the emergency department due to partner violence, substance abuse or suicide attempt. However, it is unknown if these children experience psychosocial problems. This study aims to assess their levels of post-traumatic stress, anxiety, depre...

Leerdoelen Na het bestuderen van dit artikel: • kent u de belangrijkste aspecten van de huidige kennis over kindermishandeling in Nederland; • begrijpt u het belang van de relatie tussen een traumamechanisme en een fractuur; • kent u de relatie tussen femurfracturen en kindermishandeling; • weet u wat een correcte radiologische work-up bij een verm...

Objectives: Only a small proportion of all paediatric fractures is caused by child abuse or neglect, especially in highly prevalent long bone fractures. It can be difficult to differentiate abusive fractures from non-abusive fractures. This paper focuses on femoral fractures in young children. Based on 3 cases, this paper presents a forensic evide...

Conclusion: Altogether, we conclude that our approach fits within the Dutch legal framework and seems a reasonable solution in situations in which individual privacy rights are at odds with the public interest of child abuse and neglect research. We argue that, although, in principle, data research is only acceptable after informed consent is obta...

To improve identification of child maltreatment, a new policy ('Hague protocol') was implemented in hospitals in The Netherlands, stating that adults attending the hospital emergency department after intimate partner violence, substance abuse or a suicide attempt should be asked whether they care for children. If so, these children are referred to...

Methods: We used a questionnaire to assess parents' opinions about the TTI of their children when visiting the emergency department. During the study period, 1000 questionnaires were distributed by mail. Results: In total, 372 questionnaires were returned (37%). A TTI was performed for 194 children (52%). The overall attitude of parents whose ch...

In 2013, the Dutch Government mandated a new policy stating that all healthcare professionals caring for adults in difficult psychosocial situations should always investigate the safety of any children involved. We describe two cases of such 'child checks' in the accident and emergency department (A&E). Patient A, a 10-year-old girl, was referred t...

Although it is often performed in clinical practice, the diagnostic value of a screening physical examination to detect maltreatment in children without prior suspicion has not been reviewed. This article aims to evaluate the diagnostic value of a complete physical examination as a screening instrument to detect maltreatment in children without pri...

In the Netherlands, screening for child maltreatment is mandatory in all emergency departments but it is unclear which screening methods are being used. As a first step towards implementation of a universal screening method across all emergency departments, we assessed the currently used screening methods. To provide an overview of the screening me...

Background and objectives: A history of sexual abuse is to be found in approximately 40% of all adult patients with gastrointestinal complaints. Data on the prevalence of child sexual abuse (CSA) in children with chronic abdominal pain (CAP) are lacking. The objective of this systematic review is to determine the prevalence of CSA in pediatric pat...

Child maltreatment is a major social problem with many adverse consequences, and a substantial number of maltreated children are not identified by health care professionals. In 2010, in order to improve the identification of maltreated children in hospitals, a new hospital-based policy was developed in Amsterdam, The Netherlands. This policy was ad...

Undernourishment can be complicated with impaired kidney function and electrolyte disturbances. We hereby report the case of a 17-year-old girl with a history of brain surgery and epilepsy who was admitted to the hospital, because of generalized seizures. A hyponatraemia of 115 mmol/L, combined with a very low urine osmolality was present. In retro...