A Systematic Approach to Evaluate Sudden Unexplained Death in Children.

OBJECTIVE: To evaluate in the Netherlands the national outcomes in providing cause of and insights into sudden and unexplained child deaths among children via the Postmortem Evaluation of Sudden Unexplained Death in Youth (PESUDY) procedure. STUDY DESIGN: Children aged 0-18 years in the Netherlands who died suddenly were included in the PESUDY procedure if their death was unexplained and their parents gave consent. The PESUDY procedure consists of pediatric and forensic examination, biochemical, and microbiological tests; radiologic imaging; autopsy; and multidisciplinary discussion. Data on history, modifiable factors, previous symptoms, performed diagnostics, and cause of death were collected between October 2016 and December 2021. RESULTS: In total, 212 cases (median age 11 months, 56% boys, 33% comorbidity) were included. Microbiological, toxicological, and metabolic testing was performed in 93%, 34%, and 32% of cases. In 95% a computed tomography scan or magnetic resonance imaging was done and in 62% an autopsy was performed. The cause of death was explained in 58% of cases and a plausible cause was identified in an additional 13%. Most children died from infectious diseases. Noninfectious cardiac causes were the second leading cause of death found. Modifiable factors were identified in 24% of non-sudden infant death syndrome/unclassified sudden infant death cases and mostly involved overlooked alarming symptoms. CONCLUSIONS: The PESUDY procedure is valuable and effective for determining the cause of death in children with sudden unexplained deaths and for providing answers to grieving parents and involved health care professionals.

Treatment of Progressive Cherubism during the Second Dental Transitional Phase with Calcitonin.

Cherubism is an autosomal dominant disease with variable expression. Aggressive forms of untreated cherubism may lead to severe malformation of the maxillofacial skeleton, developing tooth germs and teeth. Scarcely described and empirically applied interventional therapies during active stages of the disease try to limit the damage and deformation caused by progression of expanding intraosseous lesions. The final goal is to minimize the need for corrective surgeries once progressive growth has halted and disease enters its quiescent phase. New insights into the pathophysiology of cherubism hypothesize a potential role for dental development and jaw growth in the (hyper)activation of the disease. Theoretically, this could guide the ideal moment of pharmacological interventions. In this case report, the off-label use of systemic calcitonin treatment is described, stressing particularly the potential importance of its appropriate timing and duration of treatment.

Efficacy and Toxicity of Calcitonin Treatment in Children with Cherubism: A Single-Center Cohort Study.

Cherubism is a rare autosomal dominant disease characterized by expansile osteolytic jawbone lesions. The effect and safety of off-label calcitonin treatment during the progressive phase of the disease are not well described. In this retrospective study, we present data on the radiological response and adverse effects of subcutaneously administered calcitonin in a cohort of nine cherubism children (three female, six male). Two of the nine patients underwent two separate treatment courses with a significant off-treatment interval in between; therefore, a total of 11 treatment courses with a mean duration of 17.9 months (range <1 to 35, SD 10.8) were studied. To measure the response, the cumulative volume of cherubism lesions was calculated from available three-dimensional imaging. The primary outcome was the change in the volume of lesions during calcitonin treatment and only assessed for the eight treatment courses with a minimal duration of 6 months. A statistically significant reduction in the mean cumulative volume of lesions was seen regardless of treatment duration. Average volume reduction was highest in the first half year of treatment, with a gradual, ongoing reduction thereafter. For the secondary outcome, the change in the cumulative volume of lesions after treatment cessation was assessed for the seven treatment courses with follow-up imaging available. After six of these seven treatment courses, the cumulative volume increased again but remained undoubtedly smaller than the initial volume at the start of therapy. Adverse effects were assessed for all 11 treatment courses and occurred in 73% of them. Most adverse effects were mild and low grade, with the most severe being one grade 3 symptomatic hypocalcemia requiring hospitalization and early treatment termination. Calcitonin treatment seems effective and tolerable in treating actively progressing cherubism in children. However, further research is required to better understand the pharmacological treatment of cherubism, including also other drugs, dosing, and protocols. © 2023 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).

[Adhesive small bowel obstruction after surgery during infancy; a potentially fatal long term complication]. / Strengileus na een operatie op zuigelingenleeftijd.

BACKGROUND: Pyloromyotomy, the treatment for infants with hypertrophic pyloric stenosis, is a procedure with a low risk of complications and quick recovery. We describe a rare and fatal complication. CASE DESCRIPTION: A 12-year old boy presents with persistent abdominal pain and vomiting at his general practitioner. After he collapses, cardiopulmonary resuscitation is started and he is brought to the hospital where he died. His medical history mentioned pyloromyotomy, complicated by fascia dehiscence and recurrent abdominal pain since the age of six. No cause was ever found for his abdominal pain. Autopsy was performed and showed feces in the abdominal cavity caused by two perforations and an adhesive small bowel obstruction (ASBO) from the jejunum to the abdominal wall localized at the scar tissue of the pyloromyotomy with internal herniation. CONCLUSION: Complaints of abdominal pain in children with previous abdominal surgery may be caused by adhesions. If abdominal pain persists and no other cause can be found, diagnostic laparoscopy should be considered.

A 15-year-old Girl with a Lateral Neck Mass Turning Out to Be Papillary Thyroid Carcinoma-Lateral Ectopic Papillary Thyroid Carcinoma or Lymph Node Metastasis?

Lateral neck lesions in children are common and involve various infectious or inflammatory etiologies as well as embryological remnants such as branchial cleft cysts. Although unusual, ectopic thyroid tissue can also present as a lateral neck mass. Here, we present an unusual case of a 15-year-old girl treated for an asymptomatic lateral neck mass that after surgical removal was found to be papillary thyroid carcinoma (PTC). However, after removal of the thyroid gland, no primary thyroid tumor was found. The question arose whether the lateral neck lesion was a lymph node metastasis without identifiable primary tumor (at histological evaluation) or rather malignant degeneration of ectopic thyroid tissue. Total thyroidectomy was performed with postoperative adjuvant radioactive iodine ablation. Even though PTC in a lateral neck mass without a primary thyroid tumor has been described previously, pediatric cases have not been reported. In this report we share our experience on diagnosis, treatment and follow-up, and review the existing literature.

RANKL inhibition for giant cell lesions of the jaw: A retrospective cohort analysis.

BACKGROUND: In all giant-cell-rich lesions (GCRL) occurring in bone, a common underlying excessive RANKL expression is held responsible for the osteolytic activity. Apart from giant cell tumour of bone (GCTB), systematic outcome analysis of RANKL inhibition in other GCRL is unavailable. The aim of this study is to assess the efficacy and safety of a 1-year denosumab protocol in giant cell lesions of the jaw (GCLJ). METHODS: A retrospective cohort study was conducted compromising patients treated with a 1-year protocol of monthly subcutaneously administered 120 mg denosumab. Objective tumour response based on histology and imaging was used to calculate objective tumour response rate, progression-free survival (PFS) and time to progression. Type, severity and frequency of adverse events were recorded in a standardised way to assess safety. RESULTS: Twenty patients, predominantly female (90%), were included. Fifty-five per cent of lesions were located in the mandible; most classified as aggressive lesions (90%). Thirty-five per cent (7/20) of cases were either recurrent after prior treatment or progressive, while on other drug treatment. Objective tumour response rate was 100% after 12 months of treatment. Median PFS was 50.4 months (95% CI 38.0-62.8) with a cumulative PFS rate of 22.6% (95% CI 1.8-43.4) at 5 years follow-up. Median time to progression was 38.4 months (95% CI 26.0-50.8). Treatment was well tolerated, and none of the patients had to interrupt therapy for toxicity. CONCLUSION: High-dose denosumab is effective and safe in achieving a complete response in GCLJ within 12 months. The high long-term relapse rate after treatment cessation is the main obstacle for denosumab to become standard treatment for GCLJ.

[Increase in reporting of child deaths; analysis of recent forensic services data]. / Dood minderjarige steeds vaker gemeld.

OBJECTIVE: We investigated the degree of reporting of child deaths in 2017 and compared this with data from 2012. Furthermore, we assessed the characteristics of these deaths and in how many cases the forensic doctor performed a post-mortem examination. DESIGN: Observational research. METHOD: We requested data from 25 public health services (GGDs in Dutch) and the private organization Forensisch Artsen Rotterdam-Rijnmond (FARR) concerning child deaths that occurred in 2017. We distinguished between stillbirths, live births with death occurring ≤28 days post-partum and live births with death occurring > 28 days post-partum. Using mortality figures for 2017 obtained from Statistics Netherlands (CBS), the percentage of child death cases where discussions took place between the treating physician and a forensic doctor was determined both at regional and national level. RESULTS: In 2017, a total of 928 out of 1303 child death cases known to CBS was reported to the regional forensic doctor; this means a reporting rate of over 70%. For stillbirths the national reporting rate was 46.0% (200/435), for live births who died ≤ 28 days post-partum 84.0% (300/357) and for live births where death occurred > 28 days post-partum 83.8% (428/511). The reporting rate differed per province, Zuid-Holland having the highest reporting rate (93.1%) and Gelderland the lowest (74.1%). The reporting rate increased compared to 2012 in relation to stillbirths as well as live births. The forensic doctor was most likely to perform a post-mortem examination in cases where the death occurred outside the hospital and where it involved the death of minors older than 28 days. CONCLUSION: Treating physicians are increasingly fulfilling their legal obligation to report deceased minors to a forensic doctor, but the reporting rate is still not 100%. We therefore advise continued investment in order to improve the reporting rate, especially in regions where figures lag behind the national average.

Persistent Hiccups Because of Water Intoxication by Colonic Irrigation With Tap Water.

Hyponatremia by colonic irrigation with water is a rare complication, especially in children. We describe a child with chronic constipation who was admitted because of persistent hiccups provoked by severe hyponatremia by water intoxication due to colonic irrigation with tap water. Awareness of complications of colonic irrigation may be crucial for health care providers and parents to rapidly recognize a serious underlying problem.