Spectrum of MRI findings of foetal alcohol syndrome disorders-what we know and what we need to know!

The exposure to alcohol in utero has been known to damage the developing foetus. Foetal alcohol spectrum disorders is an umbrella term that highlights a range of adverse effects linked to alcohol exposure in utero. Multiple studies have shown specific brain abnormalities, including a reduction in brain size, specifically in the deep nuclei and cerebellum, and parietal and temporal lobe white matter changes. While studies ascertained that other prenatal risk factors, such as maternal use of illicit drugs or lack of pre-natal care, and post-natal risk factors, such as physical or sexual abuse and low socioeconomic status, may be involved in the pathology of variances in foetal neurological abnormalities, prenatal alcohol exposure remained the strongest factor for effects on brain structure and function. Particularly, the number of days of alcohol consumption per week and drinking during all three trimesters of the pregnancy indicating the strongest relationship with brain abnormalities. Further studies are needed to explain pre-natal risk factors in isolation as well as in combination for neurodevelopmental outcomes. The diverse phenotypic presentations described indicate that the diagnostic criteria of foetal alcohol spectrum disorder must be refined to better represent the range of neurologic anomalies.

Spontaneous remission of pendulum swinging thyroid disease in Down syndrome.

Summary: Rare patients who have both thyroid-stimulating hormone (TSH) receptor-stimulating and -blocking antibodies can develop 'pendulum swinging' thyroid dysfunction. A 9-year-old girl with Down syndrome was treated with carbimazole for Graves' disease. After 2 years of treatment, she became profoundly biochemically hypothyroid, and this persisted after carbimazole was discontinued. Low-dose L-thyroxine was commenced. This was subsequently also discontinued as biochemical hyperthyroidism developed. TSH receptor antibody bioassay identified both TSH receptor-stimulating and -blocking antibodies. Mild hyperthyroidism persisted and while consultations regarding definitive treatment were ongoing, medication was not recommenced. Thyroid function normalised spontaneously and she has remained euthyroid for the past 3 years. Previous reports have advised definitive treatment; however, our patient developed spontaneous remission which has been prolonged and definitive therapies have been avoided. It is not yet known how commonly this particular phenomenon occurs. Learning points: Rare patients who have both TSH receptor-stimulating and -blocking antibodies can switch between hyperthyroidism and hypothyroidism or vice versa during treatment with antithyroid drugs or thyroxine. Metamorphic thyroid autoimmunity is more common in Down syndrome. Switching between hyperthyroidism and hypothyroidism and back again is less commonly reported. Definitive treatment such as radioactive iodine or thyroidectomy are usually recommended. Prolonged remission was achieved off all medication, without recourse to definitive treatments.

Primary and secondary care approach to paediatric mental health conditions: a novel model of care.

The enforced isolation caused by the COVID-19 pandemic has led to an increase in mental health issues and severity of presentations to emergency departments in Ireland. Long waiting lists for both Psychology and Psychiatry are further impacting on children's mental well-being. We proposed the creation of a 'Happiness Toolkit' that can be given to children on presentation to their primary or secondary care provider with a mental health issue. The toolkit is comprised of six evidence-based techniques that are proven to boost self-esteem, develop resilience and promote positive mental health. A leaflet detailing the practices along with a physical 'box' that the children must make were created. This resource may therefore provide immediate support to those children that may endure long waiting periods, sometimes greater than a year and a half, for referral to tertiary services. Our toolkit allows children and their families to engage in positive mental health practices that may prevent regression during this waiting period and lead to improved mental health or cessation of symptoms.

Infantile onset ascending hereditary spastic paralysis.

A 3½-year-old girl, presented with delayed motor development and increased tone in lower limbs along with tight tendoachilles, toe walking and bilateral clonus. There were normal antenatal and perinatal period, however, after birth there was twitching of her lower limbs. Examination showed lower limb spasticity.Brain and spinal MRI along with EEG were normal. Serum amino acids revealed hyperprolinemia type 1. Hereditary spastic paraplegia gene panel confirmed a homozygous pathogenic variant in ALS2 gene, confirming a diagnosis of infantile onset ascending hereditary spastic paraparesis. She was fitted with ankle-foot orthotics, uses a Kaye walker and is on baclofen and diazepam as she can experience spasticity and painful muscle cramps. She is being managed by a multidisciplinary team involving paediatrician, paediatric neurologist, physiotherapist, occupational therapist, speech and language therapist, dietitian and social worker. Infantile onset ascending hereditary spastic paraplegia represents a rare cause of early onset spasticity with a progressive prognosis.

Sirenomelia (mermaid syndrome): a rare congenital disorder.

Sirenomelia, also known as mermaid syndrome, is an extremely rare congenital disorder involving the lower spine and lower limbs. We present a case of a grand multiparous with poorly controlled gestational diabetes who delivered a live baby weighing 2.43 kg at 38 weeks' gestation. The baby was noted to have significant respiratory distress, and resuscitation was promptly commenced. Severe congenital abnormalities indicative of sirenomelia were obvious and after availability of antenatal records which indicated an extremely poor prognosis, resuscitative efforts were aborted. The baby was handed over to the mother for comfort care and died 18 min postdelivery.

Semi Lobar Holoprosencephaly with Vertebral Segmentation Defects.

Holoprosencephaly is the most common embryonic brain defect. Foetuses who survive during intrauterine life are born with varying grades of brain and facial deformities. Extra craniofacial manifestations are common. Vertebral segmentation defects are rarely seen with holoprosencephaly, mainly in association with holoprosencephaly diencephalic hamartoblastoma (HDH) association. A female infant was born at term by normal delivery. Birth head circumference was below the 3rd percentile. Antenatal scan had showed microcephaly as the only abnormality. Physical examination revealed microcephaly, ocular hypotelorism, left ear skin tag and short neck. MRI of the brain showed semilobar holoprosencephaly. Neck radiograph revealed gross vertebral segmentation defect involving cervical and upper thoracic vertebrae. She had initial feeding difficulties. She showed severe global developmental delay and had underlying central diabetes insipidus. Vertebral segmentation defect is rare in holoprosencephaly.

Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance.

Haploinsufficiency of the insulin-like growth factor-1 receptor (IGF1R) gene on chromosome 15q26.3 is associated with impaired prenatal and postnatal growth, developmental delay, dysmorphic features and skeletal abnormalities. Terminal deletions of chromosome 15q26 arising more proximally may also be associated with congenital heart disease, epilepsy, diaphragmatic hernia and renal anomalies. We report three additional cases of 15q26 terminal deletions with novel features which may further expand the spectrum of this rarely reported contiguous gene syndrome. Phenotypic features including neonatal lymphedema, aplasia cutis congenita and aortic root dilatation have not been reported previously. Similarly, laboratory features of insulin-like growth factor 1 (IGF-1) resistance are described, including markedly elevated IGF-1 of up to +4.7 SDS. In one patient, the elevated IGF-1 declined over time and this coincided with a period of spontaneous growth acceleration. CONCLUSION: Deletions of 15q26 are a potential risk factor for aortic root dilatation, neonatal lymphedema and aplasia cutis in addition to causing growth restriction. What is Known: • Terminal deletions of chromosome 15q26 are associated with impaired prenatal and postnatal growth, developmental delay, dysmorphic features and skeletal abnormalities. What is New: • Neonatal lymphedema, aplasia cutis congenita and aortic root dilatation have not been previously described in 15q26 terminal deletions and may represent novel features. • IGF-1 levels may be increased up to 4.7 SDS.

A national physician survey of diagnostic error in paediatrics.

UNLABELLED: This cross-sectional survey explored paediatric physician perspectives regarding diagnostic errors. All paediatric consultants and specialist registrars in Ireland were invited to participate in this anonymous online survey. The response rate for the study was 54 % (n = 127). Respondents had a median of 9-year clinical experience (interquartile range (IQR) 4-20 years). A diagnostic error was reported at least monthly by 19 (15.0 %) respondents. Consultants reported significantly less diagnostic errors compared to trainees (p value = 0.01). Cognitive error was the top-ranked contributing factor to diagnostic error, with incomplete history and examination considered to be the principal cognitive error. Seeking a second opinion and close follow-up of patients to ensure that the diagnosis is correct were the highest-ranked, clinician-based solutions to diagnostic error. Inadequate staffing levels and excessive workload were the most highly ranked system-related and situational factors. Increased access to and availability of consultants and experts was the most highly ranked system-based solution to diagnostic error. CONCLUSION: We found a low level of self-perceived diagnostic error in an experienced group of paediatricians, at variance with the literature and warranting further clarification. The results identify perceptions on the major cognitive, system-related and situational factors contributing to diagnostic error and also key preventative strategies. WHAT IS KNOWN: • Diagnostic errors are an important source of preventable patient harm and have an estimated incidence of 10-15 %. • They are multifactorial in origin and include cognitive, system-related and situational factors. What is New: • We identified a low rate of self-perceived diagnostic error in contrast to the existing literature. • Incomplete history and examination, inadequate staffing levels and excessive workload are cited as the principal contributing factors to diagnostic error in this study.

MEDICAL PRACTICE IN CHILDREN PRESENTING FEVER WITH PETECHIAL RASH TO AN EMERGENCY DEPARTMENT.

INTRODUCTION: The association of fever and petechiae in children is one of the most alarming findings for a paediatrician. To quickly distinguish between benign and life-threatening conditions is challenging in many cases. We aimed to evaluate the clinical practice of children presenting with fever and petechiae as initial symptoms. METHODS: 41 patients (age 3 months-11 years) presenting with fever and petechiae were identified in an Emergency Paediatric Assessment Unit over a period of 9 months. General data, symptoms and signs were assessed for each patient. The work-up consisted in: complete blood count, inflammatory tests, coagulation tests, Monospot test, nasopharyngeal rapid tests, blood culture, and cerebrospinal fluid culture where appropriate. RESULTS: Most children were <5 years of age (70.7%). Female to male ratio was 1:2.4. The most common clinical diagnoses were: viral respiratory illness (48.8%, 20/41) and upper respiratory tract infection (17.1%, 7/41). Meningococcal disease was found in one case. CRP>6 mg/l was poorly correlated with serious illness. The following variables were strongly associated with serious illness: ill appearance, shivering, lethargy, back rigidity, ESR>50 mm/h and prolonged capillary refill time. 59% (24/41) of children were treated with antibiotics, however, at discharge 42%(10/24) of them, did not have a work-up suggestive for a bacterial illness. CONCLUSIONS: Screening for low prevalence but high morbidity conditions, as the meningococcal disease, with an extensive work-up is time and resource consuming and may lead to unmotivated antibiotic use. Larger studies are needed to change the emergency practice for management of fever and rash.

Respiratory Syncytial Virus Preterm (32-36 Completed Weeks of Gestation) Risk Estimation Measure for RSV Hospitalization in Ireland: A Prospective Study.

BACKGROUND: In several countries, respiratory syncytial virus prophylaxis is offered to late preterm infants who are at escalated risk of respiratory syncytial virus hospitalization (RSVH). However, targeted prophylaxis should be informed by country-specific data. This study, which uniquely includes 36 weeks of gestational age (GA) infants, aims to establish the risk factors for RSVH in 32-36 weeks of GA infants in Ireland. METHODS: A prospective observational study at 13 hospitals of laboratory-confirmed RSVH in nonprophylaxed 32-36 weeks of GA infants was conducted from July 2011 to February 2014. Baseline and first-year clinical data were analyzed by using SPSS software Version 22 (IBM Corp, Armonk, NY). Significant (P < 0.05) variables were entered into multiple logistic regression to determine the independent risk factors for RSVH. RESULTS: Sixty-three percent of eligible infants (1825 of 2877) were recruited. The RSVH rate was 3.6% (65 of 1807 analyzed infant records). There was no RSV-attributable mortality. Twelve infants required intensive care. Of the 15 variables correlating to RSVH, 5 independent risk factors were identified: older siblings [odds ratio (OR): 3.8; 95% confidence interval (CI): 1.97-7.41], being Caucasian (OR: 2.3; 95% CI: 1.04-5.29), neonatal respiratory morbidity (OR: 2.2; 95% CI: 1.28-3.94); birth July 15 to December 15 (OR: 2.1; 95% CI: 1.09-3.92) and family history of asthma (OR: 1.9; 95% CI: 1.01-3.39). Birth from 36 weeks to 36 + 6 days mitigated RSVH risk (relative risk: 0.58; 95% CI: 0.34-0.99); however, risk factors were similar to the 32-35 weeks of GA cohort. CONCLUSION: Neonatal respiratory morbidity or being Caucasian were the population-specific independent risk factors for RSVH in 32-36 weeks of GA in Ireland, whereas the other identified independent risk factors mirrored those established in previous studies.

Assessment of parental awareness of the shaken baby syndrome in Ireland.

UNLABELLED: Shaken baby syndrome (SBS) results in cerebral trauma. Creating awareness through education may improve parental response to a distressed infant. We aim to assess current parental understanding of SBS and identify knowledge gaps. A prospective assessment was carried out in two independent maternity hospitals (National Maternity Hospital (NMH) and Midland Regional Hospital (MRH)) over a 4-month period. Multi-dimensional questionnaires were distributed to parents (n = 233) and results were assessed anonymously. Statistical analysis was performed using SPSS21 software. Two hundred thirty-three participants were included: n = 114 (NMH), n = 119 (MRH). Fifty-four percent (n = 62, NMH) and 50 % (n = 60, MRH) had never heard of SBS. Of those who had, media was the commonest source: 94 % (47/50) NMH; 86 % (47/59) MRH. Less than 1 % of participants obtained information through a health care provider. Nearly all respondents wanted further information, regardless of whether they had prior knowledge (100 % (NMH); 99.2 % (MRH)). Participants wanted information delivered via a midwife (51 % (58/114) NMH; 45 % (54/119) MRH), with reading material (61 % (69/114) NMH; 59 % (70/119) MRH), during pre-natal period (50 % (57/114) NMH; 65 % (77/119) MRH). Importantly, parents of Irish origin were more likely to have heard of SBS compared to those of non-Irish origin (p = 0.026 (NMH), p = 0.020 (MRH)). CONCLUSION: Half of all participants had no prior knowledge of SBS, with majority expressing interest in learning more. Therefore, a national "Don't Shake" campaign is evolving. WHAT IS KNOWN: • Studies have shown that educating parents regarding shaken baby syndrome (SBS) may result in a more safe and appropriate response to infant crying [ 3 ]. • In Ireland, there is no such education provided to parents in maternity hospitals. What is New: • Just over half of our participants had not heard of SBS, and we have identified parental perceptions of SBS, and parents preferred method of anti-SBS education delivery. • This research will act as a launching platform for an anti-SBS campaign in Ireland.

Cervicomedullary spinal stenosis and ventriculomegaly in a child with developmental delay due to chromosome 16p12.1 microdeletion syndrome.

We present a case of a 1-year-old female child who was referred to the Early Intervention Clinic for evaluation of developmental delay and progressively enlarging head size. Developmental assessment revealed significant motor delay with borderline cognitive impairment. MRI of the brain revealed generalized ventriculomegaly secondary to narrowing of the spinal canal at the cervicomedullary junction. Targeted array-based comparative genomic hybridization showed deletion of approximately 602 kbp from band p12.2 region of the short arm of chromosome 16, which encompasses 16p12.1 microdeletion syndrome. The 16p12.1 microdeletion syndrome has been recently recognized as an important contributor of developmental delay and other neuropsychiatric phenotypes in the child. To date, no case of cervicomedullary spinal canal stenosis with hydrocephalus has been reported with 16p12.1 microdeletion syndrome.

Mandibular swelling in a 5-year-old child--mandibular myofibroma.

A 5-year-old girl of African descent presented with a history of progressive painless swelling on the right side of the jaw since the past 2-3 months. Orthopantomogram showed a radiolucent lesion near the angle of the mandible. Subsequent CT scan revealed a 2 cm×2 cm radiolucent lesion with intense periosteal reaction surrounding the lesion and destruction of the overlying cortex. Radiological perplexity aroused regarding the possibility of eosinophilic granuloma or some other malignant lesion. Incisional biopsy performed and microscopy showed spindle cell tumor. Immunohistochemistry confirmed it as myofibroma. Myofibroma is a rare benign tumour involving mesenchyme. Involvement of the mandible is rare. Radiological presentation with strong periosteal reaction is a rarity and has rarely been reported in the medical literature. We conclude that intraosseous myofibroma can sometimes have strong periosteal reaction and careful radiological evaluation is a prerequisite for accurate diagnosis and to avoid unnecessary aggressive therapy.

Paraesophageal hiatus hernia in an 8-month-old infant with organoaxial volvulus of the stomach.

Paraesophageal hiatus hernia is an extremely rare variety of hiatus hernia and it is rarely seen in the paediatric age group. We present an instance of this hernia in which an 8-month-old female infant was admitted with a history of ongoing vomiting and irritability since past 7 days. The subsequent imaging study showed paraesophageal hiatus hernia with twisting of the stomach along its longitudinal axis (organoaxial volvulus). Subsequent surgical repair led to the resolution of symptoms. This kind of volvulus is rare in hiatus hernia and once detected it requires prompt surgical management. Given the asymptomatic presentation of hiatus hernia clinicians need to realise that this can be associated with volvulus of stomach which, if left unrepaired, can lead to severe complications. Thus, prompt consideration is necessary with timely surgical referral to alleviate this rare but important variety of hiatus hernia.

Twelve-year-old boy with recurrent presentations of shortness of breath: an intraluminal tracheal tumour.

A 12-year-old boy was admitted with symptoms of recurrent shortness of breath since 12 months along with mild intermittent retrosternal chest pain that had developed 3 weeks ago prior to admission. He was previously treated for asthma with no improvement. Initial posteroanterior chest X-ray (CXR) revealed no abnormality on two occasions. Lateral CXR showed a mass lesion in the distal trachea which was subsequently confirmed by a CT scan of the chest.

Nocturnal lagophthalmos: never seen before in hypernatraemic dehydration.

We present two cases in which a 10-month-old male infant and another 15-month-old female child presented with symptoms of sleeping with their eyes wide open (lagophthalmos) with features of gastroenteritis (GE) and dehydration. The first child had been seen and discharged the previous day from the paediatric emergency department (ED) with a diagnosis of GE. He presented the following day with sleeping discomfort with his eyes wide open and ongoing symptoms of GE. The second child presented to the ED with features of GE. She was found to be sleeping in the ED with her eyes wide open. Investigations of both children revealed hypernatraemic dehydration. Correction of the electrolyte imbalance in both cases over a period of 48 h led to the resolution of symptoms.

A 'One in a million' case of pulsating thoracoabdominal mass.

Ectopia cordis is a rare congenital malformation in which the heart is located partially or totally outside the thoracic cavity. It comprises 0.1% of congenital heart diseases. The authors present a case of a male baby born at term by emergency caesarean section due to prolonged fetal bradycardia, who was noted to have a large pulsating mass in the thoracoabdominal area. In view of lower thoracolumbar abdominal defect, ectopic placement of the umbilicus, deficiency of the diaphragmatic pericardium, deficiency of anterior diaphragm and intracardiac abnormalities, a diagnosis of ectopia cordis-Pentalogy of Cantrell was made. He was transferred to a tertiary centre and required oxygen supplement initially. He was sent home after 1 week, on propanolol, with weekly oxygen saturation checks. He is awaiting further surgical intervention pending the required weight gain.