A Female Infant with Rectovestibular Fistula and Imperforate Hymen.

In a female neonate with anorectal malformation (ARM), the diagnosis is usually simple. But when there are two openings in the introitus and absent anal opening at the normal site, the scenario poses a diagnostic challenge. Careful and detailed evaluation of anomaly is therefore necessary before planning definitive correction. Imperforate hymen, although is not commonly associated with ARM should always be kept in mind as a differential diagnosis and other vaginal anomalies like Mayer-Rokitansky-Küster-Hauser syndrome should be ruled out before definitive surgical correction.

Identification of a novel homozygous intron 3 splice site (A>T) mutation in the ARG1 gene in cerebral palsy pediatric cases from Odisha, India.

BACKGROUND: Arginase enzyme is essential for the catalysis of the last step of the urea cycle, resulting in the conversion of L-arginine to L-ornithine and urea. Arginase deficiency could lead to hyperarginemia, an autosomal recessive disorder of the urea cycle that could result in developmental manifestations after the first year of life, followed by gradually progressive atonic cerebral palsy, spastic quadriplegia, and mental decline. ARG1 mutations have been reported in hyperarginemia patients of Western countries because they exhibited reduced arginase activity. Hence, it is important to assess ARG1 mutations in cerebral palsy cases with hyperarginemia in different populations. METHODS AND RESULTS: This study involved two unrelated pediatric patients from two non-consanguineous East Indian families, exhibiting a range of manifestations, including hypotonia of all limbs, mental retardation, and multiple episodes of seizure. The onset of the disease ranged from 1 to 3 years of age. Hyperammonemia (> 250 micromoles) and serum hyperarginemia (> 350 micromoles) were observed in both the patients. Whole-genome sequencing, followed by Sanger sequencing of both the patients confirmed the presence of a homozygous 3' splice site variation in intron 3 of the ARG1 gene (chr6: g.131902357A>T) that affects the invariant AG acceptor splice site of exon 4 (c.330-2A>T; ENST00000356962.2). CONCLUSION: The study reported the identification of a novel ARG1 mutation in two different unrelated pediatric cases from Odisha, India associated with hyperarginemia. The pathogenicity of the mutation was robustly supported by the clinical phenotype, complete co-segregation with the disease, and biochemical observations.

Vagus nerve stimulation for super-refractory status epilepticus in febrile infection-related epilepsy syndrome: a pediatric case report and literature review.

Febrile infection-related epilepsy syndrome (FIRES) is a devastating epileptic encephalopathy with limited treatment options and unclear etiology. Vagus nerve stimulation (VNS) is an FDA-approved therapy for refractory epilepsy that has been shown to decrease the frequency and severity of seizures. There is a growing interest in alternate non-pharmaceutical therapies for managing super-refractory status epilepticus (SRSE). We present a 29-month-old case, diagnosed with FIRES, whose seizures were successfully controlled by utilization of VNS after ineffective response to intensive pharmacotherapy and ketogenic diet treatment. The VNS was planted after 14 days of refractory seizure activity with a following rapid parameter titration for 42 days without evident side effect, which finally controlled the seizure in the acute phase. VNS may be a potential candidate for the treatment of SRSE in FIRES.

A pediatric case of completely thrombosed giant cavernous carotid aneurysm with ipsilateral ICA occlusion mimicking an intra-axial cystic lesion: a case report and review of the literature.

INTRODUCTION: There have been a few cases where completely thrombosed cavernous carotid artery (CCA) aneurysms have resembled neoplasms based on neuroimaging data, but no reports have been documented in children. CASE REPORT: We describe an unusual pediatric case of a huge cavernous sinus mass mimicking a cystic neoplasm with peripheral rim enhancement on magnetic resonance imaging (MRI), where the surgery and subsequent histopathological investigation revealed that this mass was a completely thrombosed giant aneurysm of the CCA. The patient showed postoperatively no new neurological deficits and discharged a week later after surgery. CONCLUSIONS: In this case report, we describe a pediatric case of a completely thrombosed giant CCA aneurysm with ipsilateral internal carotid artery (ICA) occlusion, which imitates an intra-axial cystic lesion on MRI.

Vertebral Artery Dissection in a Bouncy Castle Injury: Case Report and Literature Review.

There is an increased rate of injuries associated with activities on bouncy castles. The purpose of this article was to describe the case of a 6-year-old boy who sustained a brain infarct as a consequence of a left posterior inferior cerebellar artery dissection due to improper landing in a bouncy castle and who required a suboccipital craniotomy. The second goal was to outline the literature review regarding cervical trauma related to trampoline or bouncy castle accidents in pediatric populations. Based on the described case and reviewed studies, bouncy castle or any other activity resulting in hyperflexion or hyperextension of the neck should be carefully evaluated for cervical spine fractures and vascular injuries.

Molecular Identification of Diphyllobothrium latum from a Pediatric Case in Taiwan.

Human diphyllobothriasis is a parasitic disease caused by ingestion of larvae (plerocercoids) in raw or undercooked fish and commonly found in temperate areas. Rare cases were reported in tropical or subtropical areas especially in children. The first documented case of pediatric diphyllobothriasis in Taiwan had been reported 11 years ago. Here, we report another 8-year-old girl case who presented with a live noodle-like worm hanging down from her anus, with no other detectable symptoms. We pulled the worm out and found the strobila being 260 cm in length. Examination of gravid proglottids showed that they were wider than their lengths, containing an ovoid cirrus sac in the anterior side and the rosette-shaped uterus. Eggs extracted from the uterus were ovoid and operculated. Diphyllobothrium latum was confirmed by molecular analysis of the mitochondrial DNA cytochrome c oxidase subunit 1 (cox1) gene. The girl was treated with a single oral dose of praziquantel, and no eggs or proglottids were observed from her stool in the subsequent 3 months. The reemergence of human diphyllobothriasis in non-endemic countries is probably due to prevalent habit of eating imported raw fish from endemic areas. This pediatric case raised our concern that human diphyllobothriasis is likely underestimated because of unremarkable symptoms.

Excessive pediatric fasciitis necrotisans due to Pseudomonas aeruginosa infection successfully treated with negative pressure wound therapy.

The case of a 10-year old female child is described with a history of myeloproliferative disorder having skin, bone and visceral involvement. Bone marrow biopsy revealed histiocytosis X. During chemotherapy necrotizing fasciitis of the lower abdominal wall was diagnosed. Multiple microbiological cultures taken from the wound base revealed Pseudomonas aeruginosa infection. Surgical necrectomy and application of negative pressure wound therapy (NPWT) was started together with intensive care treatment for sepsis. As both wound and general condition of the patient improved, autologous split thickness skin grafting was carried out in two sitting under continuing NPWT application. The applied skin grafts showed excellent take, the perilesional subcutaneous recesses resolved and complete healing was achieved after 28 days of NPWT treatment. Proper dermatological diagnosis and immediate escharectomy complemented with application of NPWT can be life-saving in the treatment of necrotizing fasciitis.

Snake Envenomation to the Face of a Child--Rare Case.

Snakebites are seen in summer season in the southern part of Turkey, including Hatay province. In average of 40 patients with snakebites are admitted to our hospital every year. Viper is the most common venomous snakes in our region. Their hemotoxins and necrotoxins lead to local or systemic tissue damage and is responsible for the mortality and morbidity. In this report, we described a rare pediatric case, a six-year-old boy having been bitten on the left side of his face when he was looking around from their home's balcony. The patient was orotracheally intubated and mechanically ventilated because of airway obstruction due to severe edema. 12 flacon of anti-snake venom, mannitol infusion, fresh frozen plasma, erythrocytes suspension and antibiotherapy were administered to the patient. Seven days after the admission, clinical and laboratory findings were improved and the patient was discharged in a good condition. Snakebites inflicted on face and neck areas may cause rapidly progressive edema in respiratory tract and lead to life-threatening conditions. Therefore early orotracheal intubation is very important to prevent mortality.

Closure of the initial surgical wound resulting in successful treatment of a pediatric case of Fournier's gangrene: A case report.

Fournier's gangrene is a severe type of necrotizing fasciitis that affects the perineal and genital regions. Because of its rapid progression, Fournier's gangrene is associated with high mortality and morbidity rates. Surgical treatment of Fournier's gangrene requires leaving the wound open and performing multiple debridement procedures. We report a case of Fournier's gangrene caused by Streptococcus anginosus in a 9-year-old boy with severe autism. Because of the patient's condition, surgical treatment included thorough debridement and closure of the initial wound under general anesthesia. This case was successfully treated and the patient was discharged without infection recurrence.

Visual guidelines and tutoring in pediatric urological surgery.

Background: The aim of this prospective randomized study was to evaluate the impact of visual guidelines (picture book) and parents tutoring on pediatric urological surgery on parent's stress and anxiety, the number of postoperative contacts, and complications. Materials and methods: Following institutional ethical committee approval, a special picture book reflecting different stages of the convalescent period following multiple types of pediatric urological surgery was developed. Parents were randomly divided into 2 groups in which 33 parents in Group 1 received the picture book in addition to routine instructions prior to the surgery and 31 in Group 2 received only routine postoperative instructions. The parents were asked to answer a questionnaire (Amsterdam Preoperative Anxiety and Information Scale) regarding the level of anxiety before surgery and immediately after surgery in the recovery room. The number of postoperative parent's calls, nonplaned emergency room visits, and complications were recorded. Results: No statistically significant difference in perioperative parental anxiety was found (p = 0.88). The visual tutoring group had a significantly lower rate of emergency room admissions (6.6% vs. 18.6%, p = 0.0433), however parents from this group made a higher number of postoperative calls (9.9% vs. 3.1%, p = 0.38). Two (6.6%) from the tutoring group expressed their desire to omit visual counseling in future surgical preparation and 4 (13.2%) did not have an opinion. Overall satisfaction with regards to the preoperative counseling and information and the number of postoperative complications was similar in both groups. Conclusions: Visual tutoring does not add any value to parental anxiety but seems helpful in reducing postoperative emergency room visits. Some parents preferred to exclude visual information from future preoperative counseling.

Laparoscopic Warshaw procedure in pediatric solid pseudopapillary neoplasm of the pancreas: Technical feasibility and oncological outcomes.

Achieving margin-negative resection is crucial in treatment of solid pseudopapillary neoplasm (SPN) of the pancreas, while preserving the spleen during distal pancreatectomy is highly desirable in pediatric cases. Laparoscopic Warshaw procedure (Lap-WT) is invaluable when tumor involvement in splenic vessels complicates preservation. However, the feasibility of Lap-WT in pediatric patients remains contentious. This study presents the clinical outcomes of three pediatric SPN cases who underwent Lap-WT. The median age was 10 years, with a median tumor size of 50 mm. Lap-WT demonstrated successful outcomes with a median operation time of 311 min and blood loss of 12 mL. No postoperative complications occurred, with a median length of hospital stay of 8 days. Long-term follow-up showed mild thrombocytopenia and increased spleen volume in two cases, perigastric varices in one, with no bleeding complications. No instances of tumor recurrence were observed. Lap-WT emerges as a feasible approach for pediatric SPN, ensuring spleen preservation without compromising oncological outcomes.

Dural involvement in central nervous system langerhans cells histiocytosis (LCH) on FDG PET/CT: Case report and review of CNS manifestations of LCH on PET/CT.

We report a case of multisystem Langerhans cell histiocytosis in a pediatric patient with central nervous system involvement, highlighting F-18(FDG) uptake characteristics of dural sites of disease. We also highlight the advantages of functional data offered by FDG-PET as a useful follow-up tool to assess viability and, therefore, treatment response of previously known central nervous system lesions. The utility of recognizing characteristic patterns of FDG uptake in dural disease is also applicable in cases of diagnostic uncertainty, such as when evaluating isolated dural lesions or when distinguishing between Langerhans cell histiocytosis and similar appearing lesions such as meningiomas.

Uncommon Organisms in Neonatal Meningitis: Two Case Reports.

These case reports describe two neonates, born at term, diagnosed with bacterial meningitis and septicemia caused by uncommon organisms. The clinical presentation, diagnostic reasoning, national guidelines, hospital course, and follow-up are discussed. Meningitis is among the differential diagnoses when there is a concern for neonatal sepsis. Concern for sepsis can arise from a variety of antepartum, intrapartum, and postpartum risk factors and present with a variety of symptoms. Neonatal sepsis is a significant cause of mortality, with 750,000 infant deaths annually. Effective treatment of neonatal sepsis requires timely diagnosis and tailored antimicrobial therapy that targets the causative pathogens.

From Misdiagnosis to Management: A Case Report of Ocular Inflammatory Disease.

Ocular inflammatory diseases encompass a spectrum of conditions characterized by inflammation within the eye, presenting diagnostic challenges and necessitating tailored management. Ocular toxoplasmosis (OT) poses a challenge in diagnosis and management due to its diverse clinical presentations. We present a case report of a 17-year-old female adolescent who presented with blurred vision and ocular pain, initially misdiagnosed as optic neuritis. Despite receiving methylprednisolone, her symptoms persisted, prompting further evaluation. Ophthalmoscopic examination revealed a whitish focus of chorioretinitis adjacent to an old scar, indicative of OT. Optical coherence tomography confirmed retinochoroiditis, and sulfamethoxazole-trimethoprim was added, resulting in improvement. This case underscores the importance of considering OT in the differential diagnosis of ocular manifestations, especially in individuals with relevant family history, despite atypical presentations. Timely recognition, accurate diagnosis, and prompt initiation of appropriate therapy are crucial to preserve patients' visual function.

Accidental Intravenous Administration of Simethicone in a 4-Year-Old Patient: A Case Report.

Simethicone is an antiflatulent medication exclusively administered orally, thus its systemic effects remain unknown. We present a case of an inadvertent intravenous administration of simethicone to a 4-year-old patient, precipitating respiratory difficulty, cyanosis, and altered mental status. The patient's condition improved rapidly with appropriate interventions, leading to discharge in a fully recovered state. To date, only one documented instance of intravenous simethicone administration exists in medical literature.

Pediatric Pterygopalatine Fossa Schwannoma Presenting as Vision Loss: A Case Report and Literature Review.

Neurosynovial tumors, originating from Schwann cells within nerve sheaths, are benign entities, with 25% to 45% manifesting in the head and neck region. However, occurrences in the pterygopalatine fossa (PPF) are exceptionally rare, and only a handful of cases have been documented. In this report, we present the unique case of a 6-year-old child exhibiting a sizable soft tissue mass in the left PPF, extending into the inferior orbital fissure. The patient underwent successful intranasal endoscopic removal of PPF schwannoma utilizing the prelacrimal recess approach, with postoperative pathology confirming the diagnosis of schwannoma. Schwannomas within the PPF are particularly uncommon, and instances of such tumors in pediatric patients are even more exceptional. This case highlights the diagnostic and therapeutic challenges associated with PPF schwannomas in children, emphasizing the significance of a multidisciplinary approach for optimal management. In addition, a comprehensive literature review is presented to provide insights into the existing knowledge on this rare entity, further contributing to the understanding of pediatric PPF schwannomas.

Something Seems Fishy: Hepatic Abscess Due to Foreign Body Ingestion in a Pediatric Patient.

Pediatric hepatic abscesses are uncommon in children. They are usually preceded by intra-abdominal infections or caused by acute or chronic biliary disease. Cases of hepatic abscesses secondary to foreign body ingestion are even rarer but are most reported in countries such as China, where ingestion of fish and chicken bones is common. We report a rare case of an adolescent patient who developed a hepatic abscess after ingestion of a fishbone foreign body. He presented to the emergency department with emesis, abdominal pain, and subjective fevers of unknown etiology. Initial imaging of the abdomen was pertinent for a heterogeneous hepatic mass with evidence of fluid collection, concerning for malignancy. Subsequent incision and drainage then confirmed fluid collection to be pus. However, his cryptogenic hepatic abscess was not responsive to broad-spectrum intravenous antibiotics. After imaging was re-reviewed and repeated, a 4.3 cm thin curvilinear hyperdensity was identified embedded in the liver parenchyma. Eventually, the patient underwent exploratory laparoscopy where a fishbone foreign body was removed. To our knowledge, this is one of the few reported pediatric cases of hepatic abscess formation caused by a foreign body ingestion. Hepatic abscesses that do not resolve with antibiotics and ultrasound-guided drainage via catheter should prompt reassessment of other uncommon etiologies, specifically migrated foreign bodies as a rare but important differential diagnosis. Compared to pyogenic hepatic abscesses, hepatic abscesses secondary to foreign bodies require expedited surgical intervention for source control; thus, timely recognition and prompt intervention are crucial to minimize morbidity and mortality.

Double Trouble: Metabolic Dysfunction-Associated Fatty Liver Disease in Fraternal Twins.

Pediatric cases of metabolic dysfunction-associated fatty liver disease (MASLD, formerly termed non-alcoholic fatty liver disease (NAFLD) are a troubling new outcome of the pediatric obesity epidemic. Advising patients and families with this condition is challenging considering the nutrition needed to sustain developmentally appropriate growth in youth. Describing risk factors, comorbidities, management, and referrals for MASLD could improve surveillance and outcomes for this condition. MASLD is commonly seen with other comorbidities such as dyslipidemia, obstructive sleep apnea, type 2 diabetes, hypothyroidism, anxiety, and depression. Considerations of epigenetics, diabetes, and adverse childhood experiences will be explored as additional underlying contributors to MASLD. Screening patients for this condition in conjunction with other comorbidities is essential to preventing the progression to non-alcoholic steatohepatitis (NASH) and cirrhosis, as well as lowering the risk for hepatocellular carcinoma. This fraternal twin case report describes pertinent diagnostics, recommendations for referrals, follow-up consultations, and red flags for more advanced liver disease.

A Fatal Case of Severe Leg Edema and Necrotic Ulcers in a 14-Year-Old Boy.

A 14-year-old boy presented with edema, ulcers, tenderness, and progressive functional limitation of both legs, first diagnosed as Henoch-Schonlein vasculitis. Then, he underwent one inguinal lymph node excision and two skin biopsies which reported an angiocentric lymphoproliferative process, EBER (Epstein-Barr virus-encoded small RNA) positive, consistent with hydroa vacciniforme-like lymphoproliferative disorder (HVLPD); after eight weeks, his face presented with edema and ulcers, characteristic of the original patients described with HVLPD. The patient's parents refused treatment and took him back home, and he died a few months later. Our case study highlights an atypical localization of the disease, as it initially presented in the lower extremities rather than the face, posing a diagnostic challenge that was ultimately resolved through biopsy.

A Twist in Perception: A Case of an Eight-Year-Old Female With Alice in Wonderland Syndrome.

The article aims to explore the challenges involved in diagnosing and managing Alice in Wonderland Syndrome (AIWS) in pediatric cases, focusing on an eight-year-old female with perceptual distortions affecting vision, hearing, and time perception. AIWS, a rare neurological phenomenon, manifests as distortions in the perception of the body and external stimuli. The lack of established diagnostic criteria, particularly in the pediatric population, complicates accurate identification. The presented case illustrates visual anomalies, auditory abnormalities, and tachysensia, emphasizing the multisensory nature of AIWS. The temporal association with underlying causes, such as migraines and viral infections, highlights the need for a comprehensive evaluation. The Acharya Vinoba Bhave Rural Hospital management approach involves a systematic assessment, identification of underlying chronic conditions, and targeted treatment. Migraine prophylaxis, utilizing prescription drugs and a low-tyramine diet, plays a central role. The limited use of antipsychotics underscores the neurological origin of AIWS. The article contributes valuable insights into pediatric AIWS, advocating for further research and awareness. The article also aims to highlight the lack of established diagnostic criteria for AIWS, particularly in the pediatric population, and to present a systematic management approach based on a specific case study. The multidisciplinary collaboration, regular follow-ups, and patient education constitute a comprehensive approach to enhance understanding and alleviate symptoms in AIWS cases.