Pediatric Rectosigmoid Atypical Juvenile Polyps Presenting With Rectal Prolapse and Acute Bleeding: A Case Report and a Comprehensive Literature Review.

Rectosigmoid solitary juvenile polyps are benign lesions, relatively frequent in childhood. The clinical debut of a pediatric polyp with bleeding is relatively frequent, but there are very few reports of rectal prolapse of polyps. We present the case of a 7-year-old female patient with no previous history who presented with rectal prolapse of a polyp with acute bleeding. An urgent endoscopic examination was performed and 2 rectosigmoid polypoid lesions were found and resected. The anatomopathological study showed that these were 2 hamartomatous polyps with mild dysplasia. The patient is asymptomatic and is being followed up. The literature concerning rectal prolapse of polyps in the pediatric population is scarce. In a pediatric patient with a rectal prolapse, this entity should be considered in the differential diagnosis.

Sea-blue histiocytosis.

A 78-year-old woman with hypertrophic cardiomyopathy underwent a septal myomectomy and valve replacement. In the immediate postoperative period she developed shock of mixed etiology and died. At autopsy, hepatomegaly and splenomegaly were identified, with PAS and Giemsa positive intracellular ceroid granular deposits. Sea-blue histiocytosis is an extremely rare, chronic and benign deposit disease. It is characterized by hepatosplenomegaly, thrombocytopenia and lymphadenopathy. The presence of ceroid substance in granules in PAS and Giemsa stains should establish the diagnosis of suspicion.

Glans Penis Ischemia after Circumcision in a 15-Year-Old Patient Managed with Intravenous Pentoxifylline: A Case Report and a Diagnostic-Therapeutic Guideline Proposal.

Glans ischemia is an extremely infrequent complication characterized by a total or partial compromise in the penile arterial perfusion. A 15-year-old male patient suffered an episode of ischemia in the glans penis post-circumcision 24 h after surgery. Intravenous treatment with continuous perfusion of pentoxifylline was started for 4 days, with favorable evolution. Complete resolution was observed with no sequelae. There is no consensus on the best therapeutic management. The favorable evolution reported in most of the cases despite different therapeutic approaches leads us to think that the role of the treatments proposed so far is probably less than we believe. Additionally, we present a proposal for a diagnostic and therapeutic guide for this entity. Although the evidence in the literature is scarce and this guideline should be interpreted with caution, we believe that it can constitute a support resource for cases similar to ours.

Giant Perineal Plexiform Neurofibroma in an 8-Year-Old African Male.

The perineal presentation of plexiform neurofibroma is exceptional, with only two cases reported to date.We present an 8-year-old African male with a large perineal tumor of years of evolution. He had no associated symptoms. Café au lait stains were observed on examination, without other findings of relevance. The patient had no preoperative radiological studies. Partial excision of the lesion was performed. Histopathological study of the specimen revealed a plexiform neurofibroma.The lack of diagnostic suspicion due to the atypical nature of the location, the anatomical complexity of surgical resection and the potential urological and rectal involvement make this lesion a diagnostic-therapeutic challenge. Among the differential diagnoses, schwannoma, congenital lipoma, hamartoma and lipoblastoma should be considered.

Extensive Keloid and Hypertrophic Mixed Scarring Pattern in Ear Lobes of a 14-Year-Old African Female: A Case Report.

Background Massive earlobe scarring/keloid formation can occur after ear piercing in individuals of African descent. Case report: A 14-year-old African girl with pierced ears in childhood presented with two progressively growing and disfiguring tumors on both earlobes. The maximum diameter of each lesion was 5.5 centimeters, and the weight of each lesion was approximately 20 grams. Histologically, there was a mixed pattern of keloid and hypertrophic scarring. Discussion: Massive keloids can occur after ear piercing in childhood. It is unclear why some individuals develop these massive keloids.

Unilateral Anophthalmia and Congenital Frontal Cranioschisis Associated with Extradural Neuroglial Heterotopia: new Insights into a Possible New Malformative Spectrum.

Background: Neuroglial heterotopia, characterized by mature -neuroglial tissue outside the central nervous system, has not been previously associated with cranioschisis. Case Report: A 4-year-old female patient, with left congenital anophthalmia, had a nasofrontal neuroglial heterotopia protruding through an ossification defect. Discussion: Nasofrontal cranioschisis may be associated with neuroglial heterotopias. The combination of anophthalmia and neuroglial heterotopia, previously described only once in the literature, may be part of a broader malformation spectrum that has not been properly characterized to date.

Diaphanospondylodysostosis: Full Case Report with Novel Pathogenic BMPER Mutation.

Diaphanospondylodysostosis is an extremely rare, recessively inherited, perinatal lethal skeletal disorder associated with BMPER gene mutations. Clinically it is characterized by defects in costovertebral ossification, absent ribs, hypertelorism, short nose with depressed nasal bridge, low-set ears, and short neck. At the extraosseous level, the most frequent pathologic finding is nephroblastomatosis with multicystic kidneys. We present the case of a child of non-consanguineous parents who died at 2 months of age in our center. Autopsy showed a marked costovertebral ossification defect, perilobar nephrogenic rests and loss of white matter with periventricular leukomalacia. After genetic study, the diagnosis of diaphanospondylodysostosis was confirmed. A previously undescribed germinal mutation in the BMPER gene (c.576 + 2dupT) was found.

Alterations and diagnostic performance of capillary ketonemia in pediatric acute appendicitis: a pilot study.

INTRODUCTION: The diagnostic performance of capillary ketonemia (CK) has been previously evaluated in context of pediatric acute gastroenteritis. To our knowledge, there is no literature on its performance in the setting of pediatric acute appendicitis (PAA). MATERIALS AND METHODS: In this study, 151 patients were prospectively included and divided into two groups: (1) patients with non-surgical abdominal pain in whom the diagnosis of PAA was excluded (n = 53) and (2) patients with a confirmed diagnosis of PAA (n = 98). In 80 patients (Group 1, n = 23 and group 2, n = 57) a CK was measured at the time of diagnosis. The PAA group was further classified into complicated (n = 18) and uncomplicated PAA (n = 39). Quantitative variables were compared between groups using the Mann-Whitney U test. Diagnostic performance of CK was evaluated with ROC curves. RESULTS: CK values were 0.3 [0.1-0.9] mmol/L in group 1 and 0.7 [0.4-1.4] mmol/L in group 2 (p = 0.01). Regarding the type of PAA, CK values were 0.6 [0.4-0.9] mmol/L in uncomplicated PAA and 1.2 [0.8-1.4] mmol/L in complicated PAA (p = 0.02). The AUC for the discrimination between groups 1 and 2 was 0.68 (95% IC 0.53-0.82) (p = 0.24) and the AUC for the discrimination between uncomplicated PAA and complicated PAA was 0.69 (95% IC 0.54-0.85) (p = 0.04). The best cut-off point (group 1 vs group 2) resulted in 0.4 mmol/L, with a sensitivity of 80.7% and a specificity of 52.2%. The best cut-off point (non-complicated vs complicated PAA) resulted in 1.1 mmol/L, with a sensitivity of 61.1% and a specificity of 76.9%. CONCLUSIONS: This study found significantly higher levels of CK in patients with PAA than in those with NSAP. Similarly, significantly higher levels were observed in patients with complicated than in those with uncomplicated PAA. Nevertheless, the diagnostic performance of CK was only moderate in the two settings analyzed. The potential usefulness of CK determination as a tool to guide the preoperative rehydration regimen of patients with PAA to prevent postoperative hyporexia and vomiting is a promising line of research and should be evaluated in future studies.

Serum neutrophil gelatinase-associated lipocalin (NGAL) as a diagnostic tool in pediatric acute appendicitis: a prospective validation study.

INTRODUCTION: NGAL has recently been studied as a biomarker in the diagnostic context of pediatric acute appendicitis (PAA), although existing series are scarce and have limited sample sizes. MATERIALS AND METHODS: A prospective observational study was designed to validate serum NGAL as a diagnostic tool in PAA. This study included 215 patients, divided into 3 groups: (1) patients undergoing major outpatient surgery (n = 63), (2) patients with non-surgical abdominal pain in whom a diagnosis of PAA was excluded (n = 53) and (3) patients with a confirmed diagnosis of PAA (n = 99). Patients in group 3 were divided into complicated or uncomplicated appendicitis. In 201 patients, a serum sample was obtained at the time of diagnosis and NGAL concentration was determined by ELISA. The Kolmogorov-Smirnov test was used to assess normality. Comparative statistical analyses were performed using the Mann-Whitney U test, the Kruskal-Wallis test and the Fisher's exact test. To calculate the discriminative ability of the molecule, the area under the receiver-operating characteristic curves (AUC) was calculated. A p value < 0.05 established statistical significance. RESULTS: Median (interquartile range) of serum NGAL values were 38.88 (27.15-48.04) ng/mL (group 1), 51.84 (37.33-69.80) ng/mL (group 2) and 65.06 (50.50-86.60) ng/mL (group 3). The AUC (group 2 vs 3) was 0.642 (95% CI 0.542-0.741) (p < 0.001) and the best cutoff point was found to be at 40.97 ng/mL, with a sensitivity of 89% and a specificity of 34.6%. No statistically significant differences in serum NGAL values were found between patients with uncomplicated PAA and those with complicated PAA. CONCLUSIONS: This prospective validation study with a large sample size confirms that the diagnostic yield of NGAL in the context of PAA is only moderate, and therefore, it should not be used as a unique diagnostic tool. Furthermore, NGAL is not a valid biomarker to discern between uncomplicated and complicated PAA.

Diagnostic performance of serum pentraxin-3 in pediatric acute appendicitis: a prospective diagnostic validation study.

INTRODUCTION: Pediatric acute appendicitis (PAA) is a pathology with a high rate of diagnostic error. The search for new diagnostic tools is justified by the high morbidity and healthcare costs associated with diagnostic error. METHODS: We designed a prospective study to validate serum pentraxin-3 (PTX3) as a diagnostic tool in PAA. Participants were divided into three groups: (1) patients with no underlying pathology (2) patients with non-surgical abdominal pain and (3) patients with a confirmed diagnosis of PAA. For further analyses, patients in group 3 were divided into complicated or uncomplicated PAA. Quantitative variables were expressed as medians and interquartile ranges and categorical variables as percentages. Quantitative variables were compared using the Kruskal-Wallis test and the Mann-Whitney U test. Diagnostic performance was evaluated with ROC curves. RESULTS: This study included 215 patients divided into group 1 (n = 63), group 2 (n = 53) and group 3 (n = 99). Median serum PTX3 values were 2.54 (1.70-2.95) ng/mL, 3.29 (2.19-7.64) ng/mL and 8.94 (6.16-14.05) in groups 1, 2 and 3, respectively (p = 0.001). Patients with complicated PAA showed significantly higher values than patients with uncomplicated PAA (p = 0.04). The AUC (group 2 vs. 3) was 0.77 (95% CI 0.69-0.85) and the best cut-off point was at 7.28 ng/mL, with a sensitivity of 61.3% and a specificity of 73.1%. The AUC (complicated vs. uncomplicated PAA) was 0.65 (95% CI 0.54-0.77) and the best cut-off point was 12.33 ng/mL, with a sensitivity of 51.72% and a specificity of 72.73%. CONCLUSIONS: The diagnostic ability of serum PTX3 in PAA is only moderate and therefore it cannot be considered a definitive diagnostic test. The discriminatory ability of PTX3 between complicated and uncomplicated PAA is poor. These findings, which contrast with those reported to date, should be validated with future properly designed prospective studies.

Proteus Syndrome: Case Report with Anatomopathological Correlation.

Background: Proteus syndrome is characterized by a progressive segmental or patchy growth of bone, skin, adipose tissue, and central nervous system, associated with a wide range of neoplasms, pulmonary pathology, and thrombotic risk. The main histological findings are diffuse patchy overgrowth of skin and subcutaneous tissue, plantar cerebriform connective tissue nevus, and ossification defects. Case report: We present a patient that met the clinical and histological criteria necessary for the diagnosis of the disease. He required multiple surgical interventions, including amputation of the right foot. Genetic evaluation confirmed an AKT1 mutation. Discussion: CLOVES syndrome, neurofibromatosis 1 or PTEN hamartoma tumor syndrome are partially superimposable entities to Proteus syndrome and may generate diagnostic doubt. Although the clinical criteria and histologic findings are indicative, the diagnostic confirmation of this entity is genetic.

Novel germinal mutation in NF1: case report.

BACKGROUND: Neurofibromatosis 1 is a systemic pathology that predominantly affects the central and peripheral nervous system and the skin, although it can potentially affect any organ of the human body. The NF1 gene (Neurofibromatosis 1) is located on chromosome 17q11.2, a gene of great length that encodes neurofibromin, a protein with a tumor suppressor function with a functional mechanism that is not clearly known. METHODS: We reviewed the medical records, radiologic images, genetic studies, and clinical photographs of a patient with confirmed diagnosis of Neurofibromatosis 1 who was attended in our center between 2012 and 2021. The clinical course, the applied therapeutics and genetic findings were assessed. RESULTS: We present the case of a 10-year-old patient with a clinical diagnosis of neurofibromatosis type 1 (more than 6 coffee-with-milk spots, axillary ephelides, a cutaneous xanthogranuloma and hyperhidrosis) in whom a c.6255delG mutation (pMet2085IlefsTer2) in exon 42 of the NF1 gene was detected. There was no family history of diagnosed NF1. Neuroimaging studies showed myelin vacuolization in the posterior fossa, in dentate nucleus, midbrain and both globus pallidus. These findings showed stability over time. The patient is now asymptomatic and under evolutionary follow-up. CONCLUSIONS: The mutation shown here has not been previously described. Reports of previously unknown mutations are an important source of knowledge that can contribute to improved genetic diagnosis and a better understanding of the pathophysiological and genetic characteristics of diseases.