Search Results (11)

Introduction: Inlet patch (IP) is a congenital anomaly characterized by gastric heterotopia in the cervical esophagus. While extensively described in adults, it remains poorl characterized in pediatric populations. Material and Methods: This retrospective, single-center study included all pediatric patients (0–14 years) diagnosed with IP between 2018 and 2025. Sociodemographic and clinical data were collected. A blinded pathologist assessed the presence and severity of inflammation within the IP. Results: Nine patients (median age, 12 years; range, 6–14 years) were included, with 78% beingmale. Cervical esophageal symptoms were identified in 67%, primarily dysphagia and gastroesophageal reflux disease-related complaints, although concomitant conditions such as eosinophilic esophagitis were frequently present. Three patients had symptoms potentially attributable to IP (33%). Endoscopic examination revealed characteristic well-demarcated salmon-red plaques in all patients, with multiple lesions observed in three cases. Histology confirmed gastric heterotopia with varying degrees of chronic inflammation in all cases. A potential association was observed between the severity of gastritis in the stomach, the severity of inflammation in the IP, and the presence of H. pylori, with 75% of patients with moderate-to-severe IP inflammation also exhibiting gastric H. pylori-associated gastritis. All patients except one received proton pump inhibitors, and symptoms improved in all cases. Conclusions: A thorough and targeted examination of the cervical esophagus significantly increased IP detection at our center, with most cases (89%) being diagnosed in the last 12 months. While mostly asymptomatic and incidental, IP can be symptomatic. In this case, series, we found a possible association between the severity of inflammation in the IP, the severity of gastritis, and the presence of H. pylori. Further studies are needed to define the clinical significance of pediatric IP and optimal management. Full article

Background/Objectives: Intracranial arachnoid cysts (ACs) may be congenital, primary, or secondary due to trauma. These cysts are benign, contain cerebrospinal fluid (CSF), and are classified based on location, size, and their clinical symptomatology. They are uncommon lesions in children, rarely leading to severe mass-effect neurological symptomatology. Methods: The present report describes a 30-month-old female presenting with quadriparesis. An emergency magnetic resonance imaging (MRI) study revealed the presence of a primary intracranial arachnoid cyst of the posterior cranial fossa, exerting significant pressure on the medulla oblongata and the cervical portion of the spinal cord, displacing them dorsally, with a remnant diameter of 2.5 mm. Results: This benign malformation located in a crucial area might have been complicated by severe neurological deterioration and required prompt intervention, so the patient underwent a suboccipital craniectomy in a sitting position, along with a neurosurgical procedure, which established a lasting communication channel between the cyst and the basal cisterns. This led to a favorable outcome. Conclusions: Up to the present report, postoperative complete resolution of quadriparesis secondary to a posterior cranial fossa arachnoid cyst has not been reported. At present, no therapeutic modality has been established as the definitive standard of care for pediatric ACs, and their management raises a great deal of controversy among neurosurgeons. The narrative literature review of the present study integrates the various perspectives regarding ACs and their possible treatment approaches that are currently available. Full article

Precancerous and cancerous lesions of the uterine cervix are known to be associated with Human Papillomavirus (HPV) infection. The screening of high-risk (HR)-HPV infection in the female population has led to the discovery of several cases of a double cervix, a congenital malformation that is very rare. The purpose of this study was to evaluate HR-HPV infections in women with a double cervix within the National Cervical Cancer Screening program of the Lazio region (Italy). From June 2021 to March 2024, a total of 142,437 samples were analyzed by Seegene’s Anyplex TM II HR-HPV method, which identifies 14 HR-HPV genotypes. For each woman identified with a double cervix, two separate samples were taken from both cervices and analyzed separately. Twenty-seven women with a double cervix were identified (0.019%): 23 women were tested as negative for both cervices, while the remaining four (namely A, B, C, and D) resulted positive. By genotyping, the following results were obtained: (A) Both samples showed genotype 31; (B) one cervix was negative while the other showed genotype 58; (C) one cervix was positive for HPV 18 and 31 while for 18, 31, and 33 in the other; and (D) one cervix showed genotype 66 while the other carried the 66 and 68 genotypes. Double cervix is a very rare condition where the presence of HR-HPV genotypes is not homogeneous. As already described, our study confirms that different genotypes can be detected in double cervix malformation, suggesting the need to perform HPV screening on brushing samples from both cervices. Full article

Brown tumors, an exceptional bone complication of severe primary (PHP) or renal (secondary) hyperparathyroidism (RHP), are caused by long-standing, elevated parathormone (PTH)-induced osteoclast activation causing multinucleated giant cell conglomerates with hemosiderin deposits in addition to the local production of cytokines and growth factors. We aim to present an adult case series including two females displaying this complication as part of a multidisciplinary complex panel in high PTH-related ailments. The approach was different since they had distinct medical backgrounds and posed a wide area of challenges amid real-life settings, namely, a 38-year-old lady with PHP and long-term uncontrolled hypercalcemia (with a history of pregnancy-associated PHP, the removal of a cystic jaw tumor, as well as a family and personal positive diagnosis of polycystic kidney disease, probably a PHP-jaw tumor syndrome), as well as, a 26-year-old woman with congenital single kidney and chronic renal disease-associated RHP who was poorly controlled under dialysis and developed severe anemia and episodes of metabolic acidosis (including one presentation that required emergency hemodialysis and was complicated with convulsive seizures, followed by resuscitated respiratory arrest). Both subjects displayed a severe picture of PHP/RHP with PTH levels of >1000 pg/mL and >2000 pg/mL and elevated serum bone turnover markers. Additionally, they had multiple brown tumors at the level of the ribs and pelvis (asymptomatically) and the spine, skull, and pelvis (complicated with a spontaneous cervical fracture). As an endocrine approach, the control of the underlying parathyroid disease was provided via surgery in PHP (for the postparathyroidectomy hungry bone syndrome) via medical intervention (with vitamin D analogs) in RHP. Additionally, in this case, since the diagnosis was not clear, a multidisciplinary decision to perform a biopsy was taken (which proved inconclusive), and the resection of the skull tumor to confirm the histological traits. This series highlights the importance of addressing the entire multidisciplinary panel of co-morbidities for a better outcome in patients with PHP/RHP-related brown tumors. However, in the instance of real-life medicine, poor compliance and reduced adherence to recommendations might impair the overall health status. Thus, sometimes, a direct approach at the level of cystic lesion is taken into consideration; this stands for a narrow frame of decision, and it is a matter of personalized decision. As seen here, brown tumors represent the hidden face of PHP/RHP, primarily the complex and severe forms, and awareness is essential even in the modern era. Full article

Introduction: Congenital muscular torticollis (CMT) is an asymmetrical head position resulting from structural changes in the sternocleidomastoid (SCM) muscle that occurs early during a child’s development or due to perinatal trauma. Children with CMT exhibit a marked imbalance in tension between the SCMs. In a typical clinical picture, an ultrasound scan is performed to reveal characteristic lesions, such as tissue fibrosis or post-traumatic changes. An early diagnosis of CMT in newborns and the implementation of treatment offer the chance of a complete resolution. Torticollis treatment aims to restore the SCM’s normal function. Surgical treatment is performed when conservative methods fail to improve the patient’s condition. The indications that surgery is needed include a marked shortening of the SCM, persistent fibrosis in the muscle, constant head and facial asymmetry, and rotation or lateral flexion in the cervical spine restricted by >15°. Of all the newborn and infant anomalies, congenital torticollis is the third most common after hip dysplasia and equinovarus deformities. Some authors demonstrate that torticollis coexists with hip dysplasia. Aim: The aim of this study was to collect data on infants referred to paediatric rehabilitation and to identify the risk factors associated with CMT in this group of patients, as well as to assess demographic and clinical characteristics concerning risk factors. Materials and methods: The target population for this retrospective study consisted of 111 infants aged 0 to 5 months born in Poland and diagnosed with and undergoing treatment due to CMT. The following were determined: the relationship between the side of the CMT location and the type of delivery (caesarean section vs. vaginal), the relationship between the body weight at birth and the side of the CMT location, the relationship between the extent of SCM thickening and the type of delivery, and the incidence of CMT depending on the order of delivery. Results and conclusions: The data revealed that CMT is less common in female infants (n = 51, 46%) compared to male (n = 61, 54%) infants, in whom a greater birth weight was reported (p < 005). Seventy-six percent (76%) of the paediatric patients with CMT were the offspring of primipara mothers. More often, children born via vaginal delivery had left-sided torticollis with a more significant broadening of the SCM, as shown on ultrasound scans, than right-sided torticollis. Theories of torticollis development pathophysiology should be deepened and systematised, and further research is needed. Full article

Background and Objectives: Cervical spondylotic myelopathy (CSM) is a degenerative disease and occurs more frequently with age. In fact, the development of non-herniated CSM under age 30 is uncommon. Therefore, a retrospective case series was designed to clarify clinical and radiological characteristics of young adult patients with CSM under age 30. Materials and Methods: A total of seven patients, all men, with non-herniated, degenerative CSM under age 30 were retrieved from the medical records of 2598 hospitalized CSM patients (0.27%). Patient demographics and backgrounds were assessed. The sagittal alignment, congenital canal stenosis, dynamic canal stenosis, and vertebral slips in the cervical spine were radiographically evaluated. The presence of degenerative discs, intramedullary high-signal intensity lesions, and sagittal spinal cord compression on T2-weighted magnetic resonance images (MRIs) and axial spinal cord deformity on T1-weighted MRIs was identified. Results: All patients (100.0%) had relatively high daily sports activities and/or jobs requiring frequent neck extension. Cervical spine radiographs revealed the sagittal alignment as the “reverse-sigmoid” type in 57.1% of patients and “straight” type in 28.6%. All patients (100.0%) presented congenital cervical stenosis with the canal diameter ≤12 mm and/or Torg–Pavlov ratio <0.80. Furthermore, all patients (100.0%) developed dynamic stenosis with the canal diameter ≤12 mm and/or posterior vertebral slip ≥2 mm at the neurologically responsible segment in full-extension position. In MRI examination, all discs at the neurologically responsible level (100.0%) were degenerative. Intramedullary abnormal intensity lesions were detected in 85.7% of patients, which were all at the neurologically responsible disc level. Conclusions: Patients with non-herniated, degenerative CSM under age 30 are rare but more common in men with mild sagittal “reverse-sigmoid” or “straight” deformity and congenital canal stenosis. Relatively high daily activities, accumulating neck stress, can cause an early development of intervertebral disc degeneration and dynamic canal stenosis, leading to CSM in young adults. Full article

Horner’s syndrome (HS), caused by lesions of the 3-neuron oculosympathetic nerve pathway (ONP), includes the triad: blepharoptosis, miosis and anhidrosis (ipsilateral with ONP damage). Thyroid–related HS represents an unusual entity underling thyroid nodules/goiter/cancer–HS (T-HS), and post-thyroidectomy HS (Tx-HS). We aim to overview Tx-HS. This is a narrative review. We revised PubMed published, full-length, English papers from inception to November 2022. Additionally, we introduced data on post-thyroidectomy lymphocele/chylous leakage (Tx-L), and introduced a new pediatric case with both Tx-HS and Tx-L. Tx-HS: the level of statistical evidence varies from isolated case reports, studies analyzing the large panel of post-thyroidectomy complications reporting HS among the rarest side effects (as opposite to hypocalcemia), or different series of patients with HS due to various disorders, including T-HS/Tx-HS. Tx-HS is related to benign or malignant thyroid conditions, regardless the type of surgery. A pre-operatory rate of T-HS of 0.14%; a post-operatory rate of Tx-HS between 0.03% and 5% (mostly, 0.2%) are identified; a possible higher risk on endoscopic rather than open procedure is described. Incomplete HS forms, and pediatric onset are identified, too; the earliest identification is after 2 h since intervention. A progressive remission is expected in most cases within the first 2–6 months to one year. The management is mostly conservative; some used glucocorticoids and neurotrophic agents. One major pitfall is an additional contributor factor like a local compression due to post-operatory collections (hematoma, cysts, fistula, Tx-L) and their correction improves the outcome. The prognostic probably depends on the severity of cervical sympathetic chain (CSC) lesions: indirect, mild injury due to local compressive masses, intra-operatory damage of CSC like ischemia and stretching of CSC by the retractor associate HS recovery, while CSC section is irreversible. Other iatrogenic contributors to HS are: intra-operatory manipulation of parathyroid glands, thyroid microwave/radiofrequency ablation, and high-intensity focused ultrasound, and percutaneous ethanol injection into thyroid nodules. Tx-L, rarely reported (mostly <0.5%, except for a ratio of 8.3% in one study), correlates with extended surgery, especially lateral/central neck dissection, and the presence of congenitally—aberrant lymphatic duct; it is, also, described after endoscopic procedures and chest-breast approach; it starts within days after surgery. Typically low-fat diet (even fasting and parental nutrition) and tube drainage are useful (as part of conservative management); some used octreotide, local sealing solutions like hypertonic glucose, Viscum album extract, n-Butyl-2-cyanoacrylate. Re-intervention is required in severe cases due to the risk of lymphorrhoea and chylothorax. Early identification of Tx-HS and Tx-L improves the outcome. Some iatrogenic complications are inevitable and a multifactorial model of prediction is still required, also taking into consideration standardized operatory procedures, skillful intra-operatory manipulation, and close post-operatory follow-up of the patients, especially during modern era when thyroid surgery registered a massive progress allowing an early discharge of the patients. Full article

Masses of the head and neck are often diagnosed prenatally and require special care due to the risk of airway obstruction. The EXIT procedure is a preferable mode of delivery. A congenital cystic lymphatic malformation is one of the most common lesions of the cervical region described in neonates. The treatment consists of different strategies and involves the cooperation of multiple specialists. Up to now, no guidelines or protocols are available. We report a case of a congenital cystic lymphatic malformation of the head and neck delivered during the EXIT procedure by a mother who was SARS-CoV-2 positive. We analyzed clinical characteristics, radiologic features, and treatment with injections of sclerotic agents and orally administrated sirolimus. Sirolimus seems a valuable and safe therapeutic option for treating lymphatic malformations, especially with adjunct therapies. Full article

Introduction: The occurrence of ectopic prostate tissue in the female genital tract is rare and has only been described sporadically. The origin of these lesions is unclear, but their appearance seems to be associated with various forms of androgen excess, including androgen therapy for transgender treatment or disorders of sex development, such as classic congenital adrenal hyperplasia (CAH). This is the first described case of ectopic prostate tissue in the cervix uteri of a 46,XX patient with a confirmed diagnosis of non-classic CAH due to 21-OHD and a history of mild adrenal androgen excess. Case presentation: We describe a 34-year-old patient with a genetic diagnosis of non-classic CAH due to 21-hydroxylase deficiency (21-OHD) with a female karyo- and phenotype and a history of mild adrenal androgen excess. Due to dysplasia in the cervical smear, conization had to be performed, revealing ectopic prostate tissue in the cervix uteri of the patient. Conclusions: An association between androgen excess and the occurrence of prostate tissue is likely and should therefore be considered as a differential diagnosis for atypical tissue in the female genital tract. Full article

SEC62 oncogene located at chromosomal region 3q26 encodes for a transmembrane protein of the endoplasmic reticulum (ER) and is expressed at high levels in numerous human malignancies. SEC62 overexpression has been associated with worse prognosis and high risk for lymphatic and distant metastases in head and neck cancer, cervical cancer, hepatocellular cancer, and lung cancer. However, its role in the development and tumor biology of melanocytic lesions has not been investigated so far. An immunohistochemical study including 209 patients with melanocytic lesions (malignant melanoma (MM), n = 93; melanoma metastases (MET), n = 28; Spitz nevi (SN), n = 29; blue nevi (BN), n = 21; congenital nevi (CN), n = 38) was conducted and SEC62 expression was correlated with clinical data including patient survival and histopathological characteristics. SN showed the highest SEC62 expression levels followed by MET, MM, CN, and BN. High SEC62 expression correlated with a shorter overall and progression-free survival in MM patients. Additionally, high Sec62 levels correlated significantly with higher tumor size (T stage), the presence of tumor ulceration, and the presence of lymph node as well as distant metastases. Strikingly, SEC62 expression showed a strong correlation with Clark level. Taken together, these data demonstrate that SEC62 is a promising prognostic marker in MM and has the potential to predict biological behavior and clinical aggressiveness of melanocytic lesions. Full article

We present a case demonstrating the performance of different radiographical imaging modalities in the diagnostic work-up of a patient with neurofibromatosis type 1 (NF1) and plexiform neurofibroma (PN). The newborn boy showed an expansive-infiltrative cervical and facial mass presented with macrocrania, craniofacial disfigurement, exophthalmos and glaucoma. A computer tomography (CT) and a magnetic resonance imaging (MRI) were performed. The CT was fundamental to evaluate the bone dysmorphisms and the MRI was crucial to estimate the mass extension. The biopsy of the lesion confirmed the suspicion of PN, thus allowing the diagnosis of NF1. PN is a variant of neurofibromas, a peripheral nerves sheath tumor typically associated with NF1. Even through currently available improved detection techniques, NF1 diagnosis at birth remains a challenge due to a lack of pathognomonic signs; therefore congenital PN are recognized in 20% of cases. This case highlights the importance of using different radiological methods both for the correct diagnosis and the follow-up of the patient with PN. Thanks to MRI evaluation, it was possible to identify earlier the progressive increasing size of the PN and the possible life threatening evolution in order to perform a tracheostomy to avoid airways compression. Full article