Year-old Child Research Articles

Developmental delay and autism with hypertrichosis cubiti: a clue to the diagnosis of Wiedemann-Steiner syndrome

Wiedemann-Steiner syndrome (WSS) is a rare disorder with dysmorphic features, developmental delay, autism, and hypertrichosis. We report a case of a seven and half year-old female child born to a non-consanguineous couple with developmental delay, autism, behavioral abnormality and hypertrichosis cubiti diagnosed to have KMT2A gene associated WSS. It is important for the treating clinician to be aware of the characteristic signs and symptoms of the disorder and the necessity of genetic testing to be able to confirm the diagnosis and manage by multidisciplinary team in any child with developmental delay and autism.

Unusual Variant of Ameloblastoma with Calcifying Epithelial Odontogenic Tumor-like Areas in a Three-Year Old Child

The Calcifying Epithelial Odontogenic Tumor (CEOT) is a benign odontogenic tumor, comprising approximately 1% of all odontogenic tumors. It presents as a slow-growing tumor in posterior mandibular region. A three year-old female child from Multan, reported a swelling in right lower jaw progressively increasing in size eventually causing facial asymmetry. On intraoral examination, a protuberance was seen arising from posterior mandibular region and causing displacement of overlying teeth. The swelling was cystic on palpation and mildly tender. The patient underwent complete excision of lesion at a tertiary care center in her locality. The excision biopsy specimen was received at our lab which was intact and well preserved. A diagnosis of ameloblastoma with Calcifying epithelial odontogenic tumor-like areas was made. The patient was followed up after six months however no complaint of any recurrent swelling in the area of was recorded.

Efeito da remediação fonológica em criança com altas habilidades/superdotação e dislexia do desenvolvimento

ABSTRACT Twice-exceptionality is characterized as the presence of high performance concomitantly with deficiencies or incompatible conditions. An example is when giftedness manifest associated with neurodevelopmental disorders. This study is a clinical case report referring to the evaluative and interventional process of a 9- year-old child with the paradoxical combination of giftedness associated with dyslexia. It aims to compare the performance in phonological processing, reading and writing before and after phonological remediation. In the first assessment, the child demonstrated alphabetic level in reading, a transition phase between syllabic-alphabetic and alphabetical writing levels, and below-expected performance in phonological processing skills. After intervention, the results showed consistent improvements in phonological processing, the consolidation of alphabetical writing and orthographic reading level. In general, children with isolated dyslexia have persistent difficulties in several skills after intervention. The evolution shown after phonological remediation, especially at reading level, shows different characteristics than expected. Thus, it can be concluded that twice-exceptionality may have favored the overcoming of some of the shown difficulties more successfully. Studies on these combined conditions can contribute to a better understanding of this framework during the development of learning and to formulate specialized interventions.

Management of Functional Status of a Floppy Child with Ayurveda and Panchakarma: A Case Report

ABSTRACT The floppy (hypotonic) condition often presents with abnormally lower muscle tone, resulting in the limpness of the body. Antigravity muscle movements are difficult to perform. This case had a brain lesion due to hypoxic–ischemic encephalopathy inside the cerebrum. Hypotonic cases in Ayurveda are close to Vata Vayadhi (~Diseases due to Vata dosha alleviation) with Avarana (~occlusion) due to Shiromarmaghata (~damage to the brain). This state is with symptoms such as Chestanasha (~loss of movement), Gatra vikshep sanga (~restricted body movements), and Sarveshu Skhalitam Cha Gatau Bhrusham (~fall during the walk) close to hypotonic status. In this article, a 2 and a ½-year-old male child with diagnosed hypotonic status and delayed milestones attended Kaumarbhritya outpatient department. He was not able to balance or stand with support and would lie down while sitting. He was managed according to Ayurveda guidelines for 180 days. The case was provided oral Ayurveda medications, Panchakarma therapy, and some basic exercises. The case was assessed after 60 days for the outcome of the treatment. After 180 days, a multifaceted improvement is seen. The patient started standing and walking without support, and his power grade of muscle and joints also improved. His advanced daily living activities that scored 10, before treatment improved to 70, after treatment (AT). With all-around improvement, his Gross Motor Functional Classification System score also improved from 3 to 1, AT. Magnetic resonance imaging changes were seen after a period of treatment, showing gliotic changes AT reflecting healing and neuroplastic changes. Conclusively, early intervention with Ayurveda can change the functional status in hypotonic conditions.

Diabetes mellitus type 1(DM-1) in a child with usher syndrome

Usher Syndrome is a rare genetic (autosomal recessive) disorder that characterized by partial or total hearing loss caused by defective inner ear and vision loss caused by retinitis pigmentosa which worsens by time. We report on a 9 year-old child who was diagnosed by genetic testing via whole exome sequencing (WES) with Usher Syndrome. At the age of two years and three months, the patient developed type 1 Diabetes Mellitus (DM-1). The aim of this article is to provide a comprehensive review of Usher Syndrome. The postulated association of Usher Syndrome and diabetes mellitus type 1 pathogenesis is also highlighted.

Endoscopic removal of multiple magnetic foreign bodies in the stomach of a 2-year-old child

Introduction. Foreign bodies in the gastrointestinal tract (GIT) is a serious problem in pediatric surgery. In recent years, the incidence of cases when children swallow magnets has increased significantly. Foreign bodies in the stomach, small and large intestines can cause their perforation.Purpose. To demonstrate a successful endoscopic removal of multiple magnetic foreign bodies which were in the stomach of a 2–yearold child for a long time.Description of clinical observation. Boy, 2 y.o., was admitted by the ambulance to the Clinical and Research Institute of Emergency Pediatric Surgery and Trauma in Moscow with suspected presence of multiple magnetic foreign bodies in the stomach and complaints of melena during the last 2 months, about which his parents repeatedly consulted their pediatrician. Two days before the admission, the parents found several magnetic balls in child's faeces and decided to visit the pediatrician for the second time. This time the child had X-ray examination and was transferred to the hospital. At the survey radiography and ultrasound examination of the abdominal cavity, the diagnosis of multiple foreign bodies in the stomach was confirmed. Esophagogastroduodenoscopy revealed a conglomerate of multiple magnetic foreign bodies that filled ½ of the stomach lumen. Under general anesthesia, 209 pieces of magnetic beans were endoscopically removed. Postoperative course was uneventful.Conclusion. If there is the slightest suspicion of a foreign body in the gastrointestinal tract and if there is a clinical picture of gastrointestinal bleeding, the child must be sent to surgical hospital for further examination and, if possible, for endoscopic management.

Custard apple seeds induced toxic keratoconjunctivitis

The patient developed severe symptoms of toxic keratoconjunctivitis within 6-12 h following accidental ocular exposure to custard apple seeds (Annona squamosa) which are used as a remedy for lice/dandruff in some parts of India. A 12 year-old female child was diagnosed with custard apple seed-induced toxic keratoconjunctivitis. A patient with informed consent was enrolled. She was advised to use topical antibiotics, lubricating agents and cycloplegic eyedrops. She responded well to treatment and keratoconjunctivitis resolved in 3 weeks with complete restoration of vision in both eyes. This case highlights the importance of prevailing traditional practices. Simple health education and more public awareness of harmful effects of custard apple seeds should be created to prevent such chemical injury.

A Tailorable Robotic Hand Orthosis to Support Children with Neurological Hand Impairments: a Case Study in a Child's Home.

Neurological disorders such as traumatic brain injuries (TBI) can lead to hand impairments in children, negatively impacting their quality of life. Fully wearable robotic hand orthoses (RHO) have been proposed to actively support children and promote the use of the impaired limb in daily life. Here we report a case study on the feasibility of using the pediatric RHO PEXO for assistance at home in a 13- year-old child with hand impairment after TBI. The size and functionalities of the RHO were first fully tailored to the child's needs. We trained the child and their parent on independently using the RHO before taking it home for a period of two weeks. The use of the RHO improved hand ability. Additionally, the tailoring and training benefited the unimanual capacity (Box and Block Test score +2 after tailoring) and bimanual performance (Assisting Hand Assessment score +4) of the child with PEXO. Further, it increased device acceptance by the child and the parent. The child used PEXO at home for 76 minutes distributed over three days during eating and drinking tasks. Personal and environmental factors caused the moderate use. No adverse events or safety-related issues occurred. This study highlights the value of tailoring an assistive RHO and, for the first time, demonstrates the feasibility of home use of a pediatric RHO by children with neurological hand impairments.

Rapunzel Syndrome in a Boy

Background: Trichobezoar is a rare phenomenon where a ball of swallowed hair collects in the stomach. When its tail extends beyond the pylorus in to the small intestine, it is termed Rapunzel syndrome. The condition is most commonly seen in females with psychological disturbances, many of whom have trichotillomania and or trichophagia. We report Rapunzel syndrome condition in a young boy having no overt mental disturbances. Clinical Description: A 5½-year-old male child presented with complaints of vomiting for 20 days, associated with dull aching epigastric pain over 1 year. A lump had been noticed in the abdomen which was increasing in size for the past 5 months and decreased appetite for past 1 month. Besides pica, the child had no other significant medical or surgical illness. On examination, the child was underweight with pallor, with dry, lusterless, easily pluckable hair. His abdomen revealed a palpable lump in epigastrium, with ultrasonography showing a large gastric mass with air foci. Contrast-enhanced computed tomography abdomen revealed a large, well-circumscribed, nonhomogeneous lesion in the lumen of the stomach suggestive of bezoar. The patient underwent exploratory laparotomy, which confirmed trichobezoar with a long tail of hair extending through the pylorus into the small bowel. After successful removal of the trichobezoar, the patient was discharged with no postoperative complication and advised follow up in surgery, pediatrics, and psychiatry department. Conclusion: This case creates awareness of the possibility of the rare, bizarre entity of trichobezoar in a toddler presenting with nothing more than the usual common symptoms as seen in this age group. After ruling out common causes, when there is persistence of symptoms, with some clinical clues like pica, anemia, and behavior abnormalities, pediatricians may suspect an underlying atypical diagnosis like trichobezoar, even in a male child.

Alveolar Rhabdomyosarcoma of the Nasal Dorsum of a Pediatric Patient: A Case Report.

Alveolar rhabdomyosarcoma is a rare pediatric malignant tumor with a poor prognosis, and it is exceedingly rare for this tumor to manifest on the skin of the nasal dorsum. Therefore, timely and accurate treatment can improve the survival rate of patients. We reported a case of a 4 year-old child with acinar rhabdomyosarcoma of the nasal dorsum, and the patient was cured by surgery and postoperative chemotherapy without recurrence. This case report contributes to the understanding of this rare tumor.

SHIGELLEMIA IN A CHILD WITH GASTROENTERITIS: A CASE REPORT AND REVIEW OF MICROBIOLOGY AND MANAGEMENT

Shigellemia is a rare entity of sepsis encountered in individuals having gastroenteritis caused by shigella spp. It is reported to be common in infants, immunocompromised, those having chronic illnesses and post-transplant patients on immunosuppressants. We present a case of a two and half year-old child who developed sepsis like illness during recovery from gastroenteritis. Shigella spp was isolated from blood culture and he responded well to oral antibiotics. This case illustrates the importance of blood and stool cultures that need to be sent in every febrile gastroenteritis case irrespective of immune status. Early detection and prompt treatment will likely improve outcome. Keywords: Shigellemia, Gastroenteritis, Child

Restricting child-directed ads is effective, but adding a time-based ban is better: evaluating a multi-phase regulation to protect children from unhealthy food marketing on television

BackgroundAs childhood obesity rates continue to rise, health organizations have called for regulations that protect children from exposure to unhealthy food marketing. In this study, we evaluate the impact of child-based versus time-based restrictions of “high-in” food and beverage advertising in Chile, which first restricted the placement of “high-in” advertisements (ads) in television attracting children and the use of child-directed content in high-in ads and, second, banned high-in ads from 6am-10pm. “High-in” refers to products above regulation-defined thresholds in energy, saturated fats, sugars, and/or sodium. High-in advertising prevalence and children’s exposure to high-in advertising are assessed.MethodsWe analyzed a random stratified sample of advertising from two constructed weeks of television at pre-regulation (2016), after Phase 1 child-based advertising restrictions (2017, 2018), and after the Phase 2 addition of a 6am-10pm high-in advertising ban (2019). High-in ad prevalence in post-regulation years were compared to prior years to assess changes in prevalence. We also analyzed television ratings data for the 4–12 year-old child audience to estimate children’s ad exposure.ResultsCompared to pre-regulation, high-in ads decreased after Phase 1 (2017) by 42% across television (41% between 6am-10pm, 44% from 10pm-12am) and 29% in programs attracting children (P < 0.01). High-in ads further decreased after Phase 2, reaching a 64% drop from pre-regulation across television (66% between 6am-10pm, 56% from 10pm-12am) and a 77% drop in programs attracting children (P < 0.01). High-in ads with child-directed ad content also dropped across television in Phase 1 (by 41%) and Phase 2 (by 67%), compared to pre-regulation (P < 0.01). Except for high-in ads from 10pm-12am, decreases in high-in ads between Phase 1 (2018) and Phase 2 were significant (P < 0.01). Children’s high-in ad exposure decreased by 57% after Phase 1 and by 73% after Phase 2 (P < 0.001), compared to pre-regulation.ConclusionsChile’s regulation most effectively reduced children’s exposure to unhealthy food marketing with combined child-based and time-based restrictions. Challenges remain with compliance and limits in the regulation, as high-in ads were not eliminated from television. Yet, having a 6am-10pm ban is clearly critical for maximizing the design and implementation of policies that protect children from unhealthy food marketing.

New cases of childhood leprosy in two male siblings in low endemic province: an iceberg phenomenon?

Children are the leprosy population most at risk; multibacillary infections are common. We reported pediatric cases with WHO-multibacillary lepromatous type morbus Hansen. We discovered several hypopigmented patches on the right upper arm, anesthesia-filled claw hands, and infiltrates in the ears in one 17- year-old child. In the other case (13-year-old), we discovered reduced sensory sensitivity in nearly every area of the body, infiltrates on the ear, and numerous irregular hypopigmented plaques on the belly, lumbar, and gluteus. Both patients had positive acidfast bacteria. After three months of treatment, multibacillary leprosy patients began to show improvement. Low socioeconomic and environmental conditions, as well as a history of intimate contact with leprosy patients, have been identified as risk factors.

Mycosis fungoides in an 11 year-old child: a case report

Primary cutaneous lymphomas are quite rare in children. Clinical and histopathological manifestations of these diseases in children differ significantly from those in adults. Due to their rarity and complex clinical presentation, diagnosis may take long time. Mycosis fungoides (MF) is the most commonly diagnosed form of primary cutaneous lymphomas in childhood. There are no clinical guidelines for the treatment of children. Literature data on MF variants in children are scarce; the largest study includes 34 patients who were diagnosed on average 4 years after the onset of the first symptoms. In the present article we describe a clinical case of MF in an 11-year-old child with an 8-year history of multiple lesions of the skin and scalp. The patient's parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications. The aim of our article is to demonstrate the problems in the diagnosis of the disease, especially at an early stage, because its symptoms may be similar to those of many common pediatric inflammatory skin conditions.

Peripheral ameloblastic fibroma: a rare case report.

Ameloblastic fibroma is a rare mixed odontogenic tumour which involves mostly the posterior mandible. Its peripheral variant is very rare. Only eight cases have been reported worldwide. In this report, we described a case of peripheral ameloblastic fibroma occurring in the maxillary gingiva in a 10 year-old child. The lesion was excised with a conservative surgical approach and no recurrence has occurred. Peripheral ameloblastic fibroma should be considered in the differential diagnosis of a slow growing lesion involving the gingiva.

Microbiology diagnostic approach in identifying Streptococcus pneumoniae: Case report of Streptococcal meningitis

Introduction: Bacterial meningitis remains a serious global health problem. Streptococcus pneumoniae as the causative organism, is fastidious. Microbiology diagnostic approach is needed to identify S.pneumoniae and antimicrobial susceptibility tests (AST). This study aims to report S. pneumoniae meningitis has been successfully cured strongly related to diagnostic stewardship. Case: A 1 year old child who fell, suffering from vomiting, fever and seizures was brought to the Emergency Department. Multi-slice Computerized Tomography shows cerebral edema and intracerebral hemorrhage. Laboratory blood tests and cerebrospinal fluid analysis strongly indicate bacterial meningitis. Presumptive Gram microscopy of Cerebrospinal Fluid (CSF) and initial identification of CSF cultures on lysed blood agar under microaerophilic conditions, consistently showed lancet-shaped and encapsulated Gram-positive diplococci. Our Clinical Microbiology Laboratory finally identified the growth of S.pneumoniae from blood and CSF cultures. Patients were treated with cefepime 50 mg/kg body weight/8 hours in the first 10 days as empirical and switched later definitively to ciprofloxacin 10 mg/kg body weight/12 hours according to the AST result on day 11 to day 26. On the 31ˢᵗ day, the patient recovered and was discharged. Conclusion: The case of a 1 year-old child with S. pneumoniae meningitis has been successfully cured strongly related to diagnostic stewardship by the Clinical Microbiology Laboratory. Supplementation media with sodium bicarbonate can improve S. pneumoniae recovery as a basis for identification and AST. Proper inoculation and AST need to be accelerated because S.pneumoniae easily undergoes autolysis.

A high-resolution pediatric female whole-body numerical model with comparison to a male model

Objective. Numerical models are central in designing and testing novel medical devices and in studying how different anatomical changes may affect physiology. Despite the numerous adult models available, there are only a few whole-body pediatric numerical models with significant limitations. In addition, there is a limited representation of both male and female biological sexes in the available pediatric models despite the fact that sex significantly affects body development, especially in a highly dynamic population. As a result, we developed Athena, a realistic female whole-body pediatric numerical model with high-resolution and anatomical detail. Approach. We segmented different body tissues through Magnetic Resonance Imaging (MRI) and Computed Tomography (CT) images of a healthy 3.5 year-old female child using 3D Slicer. We validated the high anatomical accuracy segmentation through two experienced sub-specialty-certified neuro-radiologists and the inter and intra-operator variability of the segmentation results comparing sex differences in organ metrics with physiologic values. Finally, we compared Athena with Martin, a similar male model, showing differences in anatomy, organ metrics, and MRI dosimetric exposure. Main results. We segmented 267 tissue compartments, which included 50 brain tissue labels. The tissue metrics of Athena displayed no deviation from the literature value of healthy children. We show the variability of brain metrics in the male and female models. Finally, we offer an example of computing Specific Absorption Rate and Joule heating in a toddler/preschooler at 7 T MRI. Significance. This study introduces a female realistic high-resolution numerical model using MRI and CT scans of a 3.5 year-old female child, the use of which includes but is not limited to radiofrequency safety studies for medical devices (e.g. an implantable medical device safety in MRI), neurostimulation studies, and radiation dosimetry studies. This model will be open source and available on the Athinoula A. Martinos Center for Biomedical Imaging website.

A very challenging scenario of 52 ingested toy magnets causing multiple entero-enteric fistulas in a 5 year-old child

Foreign body ingestion is commonly seen in paediatrics. Magnets, button batteries and sharp objects can cause life threatening complications. Intestinal obstruction, peritonitis and fistula formation between bowel loops are reported complications to multiple magnets ingestion. We report a case of a 5-year-old who swallowed 52 toy magnets. He presented with peritonitic abdomen which required abdominal exploration, resection of necrotic bowel segments and 6 bowel anastomosis. The postoperative course was uneventful. The earliest report of multiple magnets ingestion was reported from Japan in 1995, which was complicated by bowel perforation.If the magnetic foreign bodies remain in a fixed position on repeated abdominal x-rays, surgical treatment should be considered even if the patient is asymptomatic, because, in such patients, entero-enteric intestinal fistulas are likely to have formed. The ingestion of multiple magnets can lead to life-threatening complications in children. One must have a low threshold for performing diagnostic imaging in children presenting with vague abdominal symptoms if there is a history of potentially ingesting a foreign body, even if unwitnessed.

498 PERSISTENT FIFTH AORTIC ARCH IN A PATIENT WITH CHARGE SYNDROME: A CASE REPORT AND SYSTEMATIC REVIEW OF LITERATURE

Abstract Background CHARGE syndrome (CS) is a rare genetic disease characterized by a constellation of clinical findings including Coloboma, Heart defects, choanal Atresia, Retardation of growth and/or development, Genitourinary malformation and Ear abnormalities. We present a case of persistent fifth aortic arch (PFAA), an extremely rare congenital anomaly of aortic arch (AA), in a child with genetically confirmed CS and perform a systematic review of published studied, in an effort to examinate the distribution of congenital heart diseases (CHDs) and their impact in CHARGE patients. Case presentations and results A 12 years-old child was referred to our echocardiography laboratory for atypical chest pain. He had bilateral ocular coloboma, left hypoacusis, scoliosis, mild motor impairments, nocturnal enuresis, micropenis and facial dysmorphisms. Molecular diagnostic testing identified a de novo mutation (variant c.5290_5300+10del) in the CHD7 gene and CS was diagnosed. Echocardiography showed a single posterolateral papillary muscle and a cleft of anterior mitral leaflet. Interestingly, AA had a double-lumen appearance without Doppler signs of coarctation. A PFFA was hypothesized and then confirmed at angioCT. A systematic review of the literature was performed according to PRISMA guidelines. All published articles reporting the association CS and CHDs were chosen. A total of 975 records were identified. After the screening of title and abstract, assessed for eligibility were 219 papers. Finally, inclusion and full-text analysis was made in 60 studies, of which 37 case reports and 23 case series. We found that ventricular septal defects emerged as the most prevalent heart defect (32%), followed by atrial septal defects reported in 23% of cases. Complex CHDs were also described. Interestingly, AA abnormalities were reported in a high percentage (27%) of patients, right AA in 20% in association or not with aberrant subclavian artery and vascular ring, interrupted AA in 5% of cases, as well as aortic coarctation in 10%. Of note, almost half of the cases (49%) required cardiac surgery, mostly performed within 1 year from birth and, although outcome was available in a minority of patients, the death was reported in almost 30%. Conclusions Our case is the first that reports PFFA in CS and may be mistaken for AA dissection. In comparison with other syndromic diseases, a high prevalence of AA abnormalities was found in patients with mutations in the CHD7 gene.

Perceptions and experiences of Latinx parents with language barriers in a pediatric emergency department: a qualitative study

BackgroundPrior research has shown disparities exist among Latinx children who require treatment for respiratory illnesses within the pediatric emergency department (PED). Limited data exist regarding Latinx families’ experiences on the care they received at PEDs within non-traditional destination areas (NDA). Their experiences can identify areas of improvement to potentially reduce healthcare disparities among pediatric patients within this population. The purpose of this qualitative study was to explore the lived experiences of Latinx families with low English proficiency in the PED with a NDA. The broader purpose was to identify areas of improvement for reducing health care disparities among Latinx families.MethodsWe used qualitative methods to analyze semi-structured interviews among Latinx families who presented to the PED with their 0–2 year-old child for a respiratory illness from May 2019 through January 2020. All participants had low English proficiency and requested a Spanish interpreter during registration. All interviews were transcribed and reviewed using thematic analysis based on a phenomenology framework.ResultsInterviews were conducted with 16 Latinx parents. Thematic analysis revealed four major themes: (1) Uncertainty - Families expressed uncertainty regarding how to care for a child with distressing symptoms, (2) Communication – Families favored in-person interpreters which enhanced communication and allowed families to feel more informed, (3) System Burden – Families reported that the unfamiliarity with the US health system and lack of resources are additional burdens, and (4) Emotional Support – The emergency department visits garnered confidence and reassurance for families.ConclusionsOur study identified four major themes among Latinx families within a PED of a NDA. Potential areas of interventions should focus on supporting access to an interpreter, improving information delivery, and enhancing education on community resources for families with low English proficiency.