What is the annual risk of infection in congenital midline neck cysts in children? Thyroglossal duct cysts versus dermoid cysts.

INTRODUCTION: Midline neck lumps in children are mostly found to be thyroglossal duct cysts or dermoid cysts. Thyroglossal duct cysts often have an associated sinus tract which may connect all the way to the foramen caecum on the tongue, while dermoids have no such connection. This study aims to estimate the annual infection risk for midline neck cysts based on our patient series, and to see if this differs between thyroglossal duct cysts and dermoid cysts. METHODS: All children seen at the Royal Hospital for Children, Glasgow who underwent surgical excision of a midline neck cyst between 1st January 2017 and 31st December 2021 were identified. In those whose cyst had been infected prior to surgical excision, the age at which the first episode of infection occurred was recorded and used to calculate a survival curve. RESULTS: We identified 53 children (29 male, 24 female) aged 1-16 years (median 4) at the time of surgical excision. There were 26 thyroglossal and 24 dermoid cysts, plus 2 with indeterminate histology and 1 lymph node. Of the 24 dermoids, 4 suffered infection prior to surgery (17%), and 2 of these recurred after surgery (8%). Of the 26 thyroglossal cysts, 16 suffered infection prior to surgery (62%) and 5 of these recurred (19%). 78% of thyroglossal and dermoid cysts had at least 1 episode of infection by age 10 years. DISCUSSION: In a child with a congenital midline neck cyst that has never been infected, deferring surgery for a year comes with a 7.8% risk that the cyst will get infected.

Prevalence of thyroid gland tissue in midline neck dermoid cysts in children and a proposed new 'thyroglossal entrainment' hypothesis for their formation.

BACKGROUND: Thyroglossal duct cysts and dermoid cysts both commonly present as midline neck lumps in children. They are treated as separate entities with different embryological origins. There are isolated reports of thyroid gland tissue in a dermoid cyst, concurrent thyroglossal and dermoid cysts, and cysts with mixed histology. It is not known if these are rare or common. METHODS: All children undergoing excision of a congenital midline neck cyst between January 2017 and December 2022 were identified. Histopathology slides were reviewed in detail. RESULTS: In 53 children, there were 26 thyroglossal duct cysts, 24 dermoids, 1 lymph node and 2 with no diagnostic material identified. Five dermoids (28 per cent) had associated thyroid gland tissue, and 1 (4 per cent) had hybrid histology with keratinising and respiratory epithelium. Infection occurred in 17 per cent of dermoids prior to excision and 8 per cent of dermoids recurred after excision. CONCLUSION: Hybrid histology, infection and recurrence are all common in midline neck dermoids. A new theory for their embryological origin is proposed, with the suggestion that some may need more extensive surgery.

Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype.

This case report describes a girl who presented antenatal arthrogryposis and postnatal hypotonia, generalized and respiratory weakness, joint deformities particularly affecting the lower limbs and poor swallow. By 5 months, cataracts, abnormal electroretinograms, visual evoked potentials (VEPs) and global developmental impairments were recognized. No causative variants were identified on targeted gene panels. After her unexpected death at 11 months, gene-agnostic trio whole exome sequencing revealed a likely pathogenic de novo BICD2 missense variant, NM_001003800.1, c.593T>C, p.(Leu198Pro), confirming the diagnosis of spinal muscular atrophy lower extremity predominant type 2 (SMA-LED2). We propose that cataract, abnormal electroretinograms and VEPs are novel features of SMA-LED2.

Use of Cortisol and Adrenal Weight at Pediatric Postmortem.

We studied the relationship between adrenal weight and postmortem cortisol level in cases of infant death, and examined use of these measurements in adrenal insufficiency. We analyzed procurator-fiscal postmortem reports in the West of Scotland over a three year period. Combined adrenal weight was expressed as percentage of total body weight (%TBW). Of 106 cases, median (5th, 95th) %TBW was 0.056 (0.025, 0.23) and median plasma cortisol was 8.4 ug/dl (1.0, 47.1). There was no correlation between %TBW and plasma cortisol (r = 0.09, p = 0.4). The lowest and highest plasma cortisol quartile had medians of 1.9 ug/dl (1.0, 3.4) and 34.3 ug/dl (17.3, 71.5), respectively. Infection was present in 6 cases (23.1%) in the lowest quartile and in 16 cases (61.5%) in the highest quartile (p = 0.01). Our results highlight the difficulty in interpretation of cortisol at postmortem and suggest that adrenal weight measurement alone may be insufficient for diagnosis of adrenal insufficiency.

Multifocal multi-organ ischaemia and infarction in a preterm baby due to maternal intravenous cocaine use: a case report.

INTRODUCTION: Although the adverse effects of cocaine use in pregnancy are well recognised, we believe this case highlights the importance of considering the route of administration, and suggests the possibility of multifocal damage relating to intravenous use. CASE PRESENTATION: A Caucasian female baby of 29-weeks' gestation was spontaneously delivered and subsequently developed multi-organ failure considered unrelated to simple prematurity. Intensive care was re-orientated following the development of massive intraventricular haemorrhage. CONCLUSION: This case illustrates the need for regular cranial ultrasound in babies of pregnancies at risk due to intravenous cocaine use and also the necessity of counselling women who misuse cocaine in the antenatal period. As such, this article will be of most interest to paediatric and obstetric staff.

Multifocal multi-organ ischaemia and infarction in a preterm baby due to maternal intravenous cocaine use: a case report.

INTRODUCTION: Although the adverse effects of cocaine use in pregnancy are well recognised, we believe this case highlights the importance of considering the route of administration, and suggests the possibility of multifocal damage relating to intravenous use. CASE PRESENTATION: A Caucasian female baby of 29-weeks' gestation was spontaneously delivered and subsequently developed multi-organ failure considered unrelated to simple prematurity. Intensive care was re-orientated following the development of massive intraventricular haemorrhage. CONCLUSION: This case illustrates the need for regular cranial ultrasound in babies of pregnancies at risk due to intravenous cocaine use and also the necessity of counselling women who misuse cocaine in the antenatal period. As such, this article will be of most interest to paediatric and obstetric staff.