Raine's syndrome: rare disease from neurosurgical perspective.

Raine's syndrome (RS) is a rare genetic disorder. Only 25 cases are in literature. Occurs due to genetic mutation resulting in deranged bone metabolism. Few cases are reported discussing the neurosurgical ramifications of the disease. We report a child diagnosed with RS. He was presented with multisutural synostosis requiring craniofacial intervention with two vault expansions. Additionally, required VP shunt due to hydrocephalus. We consider our case unique among reports of RS, as our patient has survived for 10. He died due to valve obstruction of the VP shunt. We also present a review of relevant medical literature.

Scoliosis and rare diseases: our experience with the Prader-Willi syndrome.

INTRODUCTION: Prader-Willi syndrome (PWS) represents a difficult challenge for spine surgeons, due to the association of a structural scoliosis, with a prevalence between 15 and 86%. Conservative therapy is a viable option, but surgery is increasingly becoming the treatment of choice. METHODS: The authors reviewed a series of 15 patients affected by PWS treated at their institution between 2008 and 2023. The mean age at index treatment was 9 years and 3 months (range 1-15 years) with a prevalence of female subjects. Primary scoliotic curve ranged from 14 to 102°, and mean thoracic kyphosis was 56° (range 20-75°). Eleven patients underwent conservative treatment, while four were treated surgically. RESULTS: Mean follow-up was 5 years and 3 months (range 2-12 years). Among the 11 patients treated conservatively, only two showed improvements of the coronal curve, while the remaining nine displayed a worsening of the deformity during follow-up. Complication rate after surgery was 75%. One patient developed paraplegia after pedicle screw positioning. One patient displayed rod breakage and PJK that required revision surgery proximally. Hardware deep infection was seen in one case where it was necessary to proceed with instrumentation removal after 10 years. DISCUSSION AND CONCLUSIONS: Spine surgery represents a convincing option in patients affected by PWS, but the risks of complications are high. Correct patient selection must be the main objective, and multilevel pedicle screw fixation should be the procedure of choice. Traditional growing rod should be prudently evaluated in every single case.

Simultaneous bilateral fallopian tubal pregnancy of a laparoscopic definite spontaneous unilateral ovulation: a case report.

BACKGROUND: Bilateral simultaneous fallopian tubal pregnancy is one of the rarest forms of ectopic pregnancy. Due to the lack of unique features and clinical presentation to distinguish bilateral from unilateral ectopic pregnancy, challenges the diagnosis. CASE REPORT: A 27-year-old Asian woman presented with pelvic pain and vaginal bleeding. Pelvic transvaginal ultrasound showed fluid in Douglas Pouch and posterior fornix puncture revealed unclotted blood. Laparoscopic examination unveiled bilateral ectopic pregnancy with two corpus luteum visible in the right ovary, suggesting a double spontaneous unilateral ovulation. Bilateral fallopian tube fenestration and embryo extraction were performed to preserve fertility. CONCLUSION: Diagnosis of bilateral tubal pregnancy is difficult during preoperative ultrasound examination and careful examination during laparoscopic inspection of the whole pelvic cavity to avoid missed diagnosis.

Long anterior lens zonules with retinal stripes: a case report.

BACKGROUND: Long anterior lens zonules (LAZs) is a rare disease that was mostly conducted among African Americans. Through the observation of a Chinese patient, we discoverd that the disease may show different characteristics in Asians. CASE PRESENTATION: A patient with vision loss due to a macular hole was found to have several special clinical signs during vitrectomy combined with phacoemulsification and intraocular lens implantation surgery in our hospital, including radially oriented lines on the anterior capsule with pigment, a shallow anterior chamber, slightly high intraocular pressure, and radial retinal stripes in the peripheral retina. Finally, he was diagnosed with long anterior lens zonule syndrome. CONCLUSION: Clinicians need to pay more attention to the rare disease LAZs. It is important to tear the appropriate size of the anterior capsule so as to avoid radial capsular tearing and intraocular lens dislocation.

A Rare Case of Immature Sacrococcygeal Teratoma With Lymph Node Metastasis in a Neonate.

This is the first report of an immature sacrococcygeal teratoma with inguinal lymph node metastasis, providing the histologic transformation of an immature teratoma in association with chemotherapy. Incomplete tumor resection with coccygectomy was performed, and the histopathologic diagnosis was a grade 3 immature teratoma. Following the initial surgery, the residual tumors enlarged and the tumors metastasized to the inguinal lymph node, demonstrating immature teratoma without yolk sac tumor components. Although the tumor markers normalized after chemotherapy, the residual tumors had enlarged significantly. Therefore, a complete resection of the residual tumors was performed, and they were found to be mature teratomas.

Imaging features and radiologic-pathologic correlations of inflammatory pseudotumor-like follicular dendritic cell sarcoma.

BACKGROUND: Inflammatory pseudotumor-like follicular dendritic cell sarcoma (IPT-like FDCS) is a rare tumor. This study aimed to reveal the radiological characteristics of IPT-like FDCS by radiologic-pathologic correlation. RESULTS: We analyzed two cases of IPT-like FDCS in the liver, nine in the spleen, and two in both the liver and spleen concomitantly. IPT-like FDCS presented as well-defined iso- or hypodense masses on unenhanced computed tomography (CT) images in both the liver and spleen. Hyperintensities on T1-weighted images and hypointensities on T2-weighted images with hypointense rings were characteristic features in splenic cases. "Halo signs" were observed in two out of three liver tumors. Hepatic lesions showed significant enhancement, whereas splenic lesions showed only mild enhancement. Delayed annular enhancement was observed in both liver and spleen cases. On ultrasonographic examination, IPT-like FDCS presented as hypoechoic lesions with enhancement similar to that observed on CT. Hyaline fibrous pseudocapsules, which correlated with the hypointensities on T2-weighted images, were microscopically observed at the tumor edge. IPT-like FDCS was characterized by an abundance of small blood vessels and capillaries. Capillaries were also found in the fibrous capsule of some IPT-like FDCSs, which may explain the delayed annular enhancement. CONCLUSIONS: The manifestations of IPT-like FDCS in the liver and spleen showed differences that warrant them to be approached differently during diagnosis. Characteristic radiological findings of IPT-like FDCS included different enhancement patterns between liver and spleen tumors and rim-like hypointensities on T2-weighted images, as well as annular enhancement on CT and magnetic resonance images. These imaging features correlated with tumor pathology.

Fertility and prognosis of borderline ovarian tumor after conservative management: Results of the multicentric OPTIBOT study by the GINECO & TMRG group.

OBJECTIVES: Description of fertility and prognosis of patients with borderline ovarian tumor (BOT) treated by fertility-sparing surgery through a longitudinal study from the French national cancer network. METHODS: All consecutive patients diagnosed with BOT from the French National Network dedicated to Ovarian Malignant Rare Tumors from 2010 and 2017 were selected. In 2018, an update was made by sending a questionnaire regarding recurrence and fertility to patients aged under 43 years at diagnosis and treated conservatively. We compared the characteristics of the patients with/without recurrence and with/without live birth. RESULTS: Fifty-two patients aged 18 to 42 years presented a desire of pregnancy. Thirty patients (58%) presented a FIGO IA tumor, and 20 patients were treated by bilateral cystectomies (38%). We observed at least one live birth for 33 patients (63%) and local recurrences in 20 patients (38%). Both recurrence and live birth in 17 patients (33%) were reported, with recurrence occurring before pregnancy, after a second fertility-sparing treatment, in half of the cases. No factors associated with recurrence or live birth in this study were identified. Moreover, in this population, both recurrence and live birth were independent of age, with a linear risk along time. Disease-free survival was worse for patients treated with bilateral cystectomy (n = 20, 38%), with no difference in terms of fertility. CONCLUSION: Two third of the patients experienced life birth after conservation surgery. We did not highlight an age/time from surgery for which the risk of recurrence outweighs the chance of pregnancy and to radicalize surgery. Moreover, almost a quarter of the live birth occurred after recurrence, with no more further event to date in these patients. The results encourage to consider a second fertility-sparing surgery after local borderline recurrence in the case of pregnancy desire. All these decisions must be discussed in specialized multidisciplinary boards.

The French national network dedicated to rare gynecological cancers diagnosis and management could improve the quality of surgery in daily practice of granulosa cell tumors. A TMRG and GINECO group Study.

OBJECTIVE: The French national rare gynecological tumor network has been established to improve the quality of care through offering expertise in double reading histological diagnosis, reviewing cases and guiding management of these tumors through specialized multidisciplinary tumor boards and online clinical guidelines (www.ovaire-rare.com). The aim of this study is to evaluate the impact of the development and implementation of this network by assessing the conformity of medical practice with the guidelines concerning the granulosa cell tumors (GCTs). METHODS: This is a French nationwide study, including 463 patients (out of the 639 identified patients) with a definitive diagnosis of GCT between 2011 and 2016. Surgical practices were analyzed for conformity with the current guidelines (www.ovaire-rare.org). Medical records, surgical and pathological reports were systematically analyzed. Total conformity was defined by a conservative (unilateral salpingo-oophorectomy) or radical surgery (hysterectomy and bilateral salpingo-oophorectomy) including surgical staging (omentectomy, peritoneal biopsies and peritoneal cytology) according to the FIGO stage. Partial conformity referred to a conservative or radical surgery without surgical staging and non-conformity was defined as a non-optimal surgery as recommended by the guidelines. RESULTS: Median age at diagnosis was 49 years old (range 10-89). The median size of tumor was 94 mm (range 5-400). Radical surgery was performed in 240 patients (52%); while a fertility-sparing surgery was performed in 98 cases (21%). A surgical staging was performed in 76 cases (16%) and an evaluation of the endometrium in 289 cases (62%). Surgery was fully compliant with the guidelines in 65 patients (14%), partially compliant in 213 patients (46%), non-compliant in 137 patients (30%) and not assessable in 48 cases (10%). A statistically significant difference for compliance was observed in restaging surgery (p < 0,001), radical surgery (p = 0,017) and the period (before or after) of the implementation of the network (p < 0,001). Survival analyses did not allow us to demonstrate a significant difference in overall survival nor in PFS although there was a trend in favor of optimal surgery compared to incomplete/non optimal surgery. CONCLUSION: Surgical management's conformity to the guidelines increases over time from 2011 to 2016. According to this study, the implementation of a national network dedicated to rare gynecologic tumors seems to significantly improve the surgical management of the patients with ovarian granulosa cell tumors.

Long-Term Outcomes of Parathyroidectomy in Hyperparathyroidism-Jaw Tumor Syndrome: Analysis of Five Families with CDC73 Mutations.

BACKGROUND: Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare disease caused by CDC73 germline mutations, with familial primary hyperparathyroidism (pHPT), ossifying jaw tumors, genito-urinary neoplasms. The present study was aimed at determining the long-term postoperative outcome of parathyroidectomy in HPT-JT. METHODS: A retrospective analysis of a single-center series of 20 patients from five unrelated HPT-JT families undergoing parathyroid surgery was performed. RESULTS: Pathology confirmed a single-gland involvement in 95% of cases at onset. Parathyroid carcinoma occurred in three patients undergoing en-bloc parathyroidectomy and thyroid lobectomy: parathyroid benign lesions in 17 patients undergoing subtotal parathyroidectomy for evident multiglandular involvement (n = 1) or selective parathyroidectomy for single-gland involvement (n = 16), during bilateral (n = 13) or targeted unilateral neck exploration (n = 7). At a median overall follow-up of 16 years (range 2.5-42), patients with parathyroid carcinoma had a persistent/recurrent disease in 66.6%; patients with benign lesions had recurrent pHPT in 23.5% after a prolonged disease-free period; recurrent benign pHPT occurred slightly more often in cases of discordant preoperative localization (60% vs 9%; p = 0.06). CONCLUSION: pHPT in HPT-JT is generally characterized by a benign and single-gland involvement, with a relatively increased risk of malignancy (15%). Parathyroid carcinoma needs extensive surgery because of high risk of permanent/recurrent disease (66.6%). In benign involvement, targeted unilateral exploration with selective parathyroidectomy may be effective in cases of concordant single-gland localization at preoperative localization imaging techniques. Bilateral neck exploration with subtotal parathyroidectomy might be preferred in cases of negative or discordant preoperative localization, because of the increased risk of multiglandular involvement and long-term recurrences (23.5%).

Ovarian ependymoma presenting in pregnancy: a case report and literature review.

BACKGROUND: Ovarian ependymoma is a rare malignancy. Because of the extreme rarity, certain features of the neoplasm, including its clinical behaviour and optimal therapy, are incompletely characterized. CASE PRESENTATION: A 32-year-old pregnant woman at term presented with a left ovarian neoplasm that occurred in the early stage of pregnancy. She underwent left adnexectomy during the caesarean section, and the neoplasm was histologically and immunohistochemically identified to be ovarian ependymoma. Immunohistochemical staining with oestrogen receptors and progesterone receptors showed strong positive staining. According to reports in the literature, the pathological type of ovarian ependymoma in our patient was the extra-axial type. Interestingly, the foetus was also found to have bilateral ependymal cysts during pregnancy. The patient received no further surgical treatment or adjuvant therapy. She and her 14-month-old baby both have no evidence of disease at present. The follow-up of both mother and child is still continuing. CONCLUSIONS: The case presented here illustrates high levels of oestrogen during pregnancy may stimulate viable malignant ependymal cells to proliferate. Hence, young women with extra-axial-type ependymomas may not be suitable for fertility preservation. Moreover, hormone-based therapies can be a potentially effective treatment for women with extra-axial ependymomas.

Mohs Surgery for SEER Registry-Captured Melanoma In Situ and Rare Cutaneous Tumors: Comparing National Utilization Patterns Before and After Implementation of the Affordable Care Act (2010) and Appropriate Use Criteria (2012).

BACKGROUND: The Affordable Care Act (ACA) and the appropriate use criteria (AUC) for Mohs micrographic surgery (MMS) had the potential to increase utilization rates of MMS for indicated skin cancers, but it is unknown whether this has occurred. OBJECTIVE: To determine whether rates of MMS utilization for head and neck melanoma in situ (MIS) and rare cutaneous tumors (RCTs) increased after the implementation of the ACA and AUC publication. MATERIALS AND METHODS: Retrospective review using data from the SEER database. Melanoma in situ and RCT tumor cases from before and after the ACA and AUC publication were compared. RESULTS: Twenty-four thousand six hundred seventy-eight cases were analyzed. Mohs micrographic surgery utilization for MIS decreased from 13.9% before the ACA to 12.3% after the ACA (odds ratio 0.87; p = .012). There was no significant change in MMS utilization for MIS after publication of the AUC. There was also no significant change in MMS utilization for treatment of RCT after the ACA or AUC publication. Stratification of patients into age groups younger or older than 65 years did not change utilization rates. CONCLUSION: Rates of MMS for treatment of MIS and RCT have not increased since the advent of the ACA or AUC. This finding highlights the need for continued efforts to improve access to MMS and to increase education of its utility in treating skin cancer.

TKA in the treatment of bilateral dysplasia epiphysealis hemimelica (Trevor's Disease) of the knee in a 50-year-old man: a case report.

BACKGROUND: Dysplasia epiphysealis hemimelica (DEH), also known as Trevor's disease, is a rare skeletal developmental disorder affecting the epiphyses in pediatric patients. DEH is characterized by an asymmetric osteochondral overgrowth arising from either the medial or lateral portion of an epiphysis and usually occurs in the joints of lower limbs, most commonly in the knees and ankles. However, bilateral involvement in an adult is extremely rare, and total knee arthroplasty (TKA) for a patient with DEH has been reported only once before. CASE PRESENTATION: Here, we present a case of bilateral DEH of the knees that caused varus deformity and dysfunction of the lower limbs in a 50-year-old man. TKA was performed for treatment, and the patient had satisfactory function with no angular knee deformity and a normal range of motion after 1 year of follow-up. CONCLUSIONS: The patient in this case exhibited its specific clinical and radiological features of late-term DEH and TKA was proved to be an appropriate procedure for treating the severe deformity caused by this rare disease.

Ebstein's anomaly of tricuspid valve with aortic stenosis and coarctation of aorta: Successful single-stage repair of a rare adult congenital heart disease.

Ebstein's anomaly of the tricuspid valve is infrequently associated with left heart anomalies. The association of aortic stenosis in Ebstein's anomaly has been reported to be extremely rare and the association of coarctation of aorta is even rarer especially in adults. The combination of all three of these lesions is virtually unknown without any references in literature. We report here an unusual case of Ebstein's anomaly of the tricuspid valve and severe aortic stenosis with coarctation of aorta in an adult who presented to us with exertional dyspnoea in the third decade and underwent a successful single-stage intracardiac repair.

From Sacrum to Spine: A Complex Case of Sacrococcygeal Teratoma.

Neonatal tumors occur infrequently; sacrococcygeal teratoma (SCT) is a rare and abnormal mass often diagnosed on antenatal ultrasound. An SCT may cause serious antenatal complications, requires surgery in the neonatal period, and can lead to various long-term sequelae including fecal incontinence or constipation, urinary incontinence, and lower extremity mobility impairment. Even rarer are SCTs that include intraspinal extension necessitating complex neurosurgical intervention to relieve possible spinal cord compression or tumor tissue resection. A comprehensive understanding of the natural history of SCT provides frontline neonatal nurses and nurse practitioners with the expertise and language to support families during an infant's NICU admission. A glossary of key terms accompanied by a case review of a premature infant born with a large external SCT with intrapelvic and intraspinal components aids in enhancing knowledge related to the potential impact of an SCT on the central nervous system.

Pre-operative ultrasound diagnosis and successful surgery of a stomach incarcerated in epigastric hernia: a rare case report.

An incarcerated epigastric hernia (localized in linea alba) is a very rare observation. Here, we present a case of a 66-year-old white male who was admitted to the emergency department due to vomiting and epigastric pain. On physical examination, the only observed abnormality was a painless soft epigastric tumor located in the upper midline, measuring about 12 cm in diameter. The patient claimed that he had the tumor for more than 30 years and it never changed in diameter nor caused him any discomfort. A lipoma was initially suspected. However, an ultrasound of the abdomen revealed an incarcerated stomach, trapped due to the defect in the epigastric abdominal wall. The patient was sent for surgery and the presence of an incarcerated epigastric hernia of the linea alba, which contained the anterior wall of the stomach was confirmed. The presented case confirms that the use of ultrasonography may be an effective method to recognize unusual types of hernias, and that ultrasonography should be routinely used in emergency departments.

[Laparoscopy in emergency surgery of rare atypical diseases]. / Videolaparoskopiya v ekstrennoi khirurgii redko vstrechayushchikhsya, atipichnykh zabolevanii.

OBJECTIVE: To analyze the capabilities of laparoscopy in the diagnosis and treatment of atypical diseases. MATERIAL AND METHODS: Laparoscopy was performed in 5188 patients with established, suspected and unclear diagnosis of acute surgical diseases for the period from 2008 to 2018. Rare atypical diseases were diagnosed in 114 (2.2%) patients. These diseases simulated established and suspected clinical diagnoses in 100 (87.7%) cases, and the diagnosis was unclear in 5 (4.4%) cases. In 9 (7.9%) patients, atypical diseases were concomitant. In 7 cases, atypical diseases competed with the underlying disease and required emergency surgery. Conservative treatment was required in 2 cases. Seventy (61.4%) patients with atypical diseases needed emergency surgery, and 44 (38.6%) patients required conservative treatment. Laparoscopic operations were performed in 61 (87.1%) patients including simultaneous procedures in 8 cases and video-assisted interventions in 2 (2.9%) patients. Laparotomy was applied in 7 (10.0%) patients. RESULTS: Histological examination confirmed laparoscopic diagnosis in 66 out of 68 specimens. Cells of mucus-forming adenocarcinoma were detected in one resected epiploic appendix, carcinomatosis - in one segment of resected omentum. CONCLUSION: Video-assisted laparoscopy was valuable to establish a diagnosis and determine surgical strategy, detect competing and concomitant diseases, perform operations including simultaneous procedures.

Molecular genetic characterization reveals linear tumor evolution in a pulmonary sarcomatoid carcinomas patient with a novel PHF20-NTRK1 fusion: a case report.

BACKGROUND: Pulmonary sarcomatoid carcinoma (SC) consists of both carcinomatous and sarcomatous tumors with high degree of malignancy, rapid progression, and poor prognosis. However, little is known regarding how pulmonary SC develops and progresses. CASE PRESENTATION: A 66-year-old male was initially diagnosed with stage IIIa lung cancer containing both adenocarcinoma (ADC) and SC. Adjuvant chemotherapy was administrated post-surgery, however, recurrence with SC only soon followed. Mutation profiling of the patient's microdissected ADC and SC components of the primary lesion and recurrent tumor was performed by targeted next-generation sequencing (NGS) of 416 cancer-relevant genes. Our data showed that primary SC/ADC and the recurrent SC shared multiple gene mutations including EGFR, NF1, TP53, CDKN2B, and SMARCA4, while both primary and recurrent SCs had a unique TP53 exon 4 splicing mutation frequently observed in sarcoma. Interestingly, a novel PHF20-NTRK1 fusion was acquired in the recurrent SC, which may be a potential driver for SC recurrence. CONCLUSIONS: The molecular genetic characteristics of tumor tissues at different stages reveals a linear tumor evolution model in this case, and support that the primary SC derived from the original lung ADC during the evolution of the tumor. We also identified a novel PHF20-NTRK1 fusion, which may contribute to the disease recurrence, and that can be potentially targeted with NTRK1 inhibitors for treatment.

Multiple intraneural glomus tumors in different digital nerve fascicles.

BACKGROUND: Glomus tumors in the digital nerve are extremely rare. Multiple intraneural glomus tumors in different digital nerve fascicles have not been previously reported. CASE PRESENTATION: We report the case of a 54-year-old male with a 1-year history of progressive numbness of the middle finger with point tenderness at the level of the middle phalanx. Surgical incision revealed the presence of two glomus tumors within different fascicles of the ulnar digital nerve of the middle finger. One tumor was excised along with surrounding fascicle, the other was removed leaving the fascicle intact. Subsequently, the patient regained function of the finger and no tumors have recurred. CONCLUSIONS: Patients and physicians should be aware of the properties of intraneural glomus tumors so that early diagnosis and treatment can be sought.

Orbital and intracranial Nocardia farcinica infection caused by trauma to the orbit: a case report.

BACKGROUND: Localized `and disseminated Nocardia farcinica infection is frequently reported in immunocompromised patients. However, orbital nocardiosis is rare, and, to our knowledge, traumatic orbital nocardiosis that affects the brain has never been described. Here, we report a case of traumatic orbital and intracranial N. farcinica infection in an immunocompetent patient. CASE PRESENTATION: A 35-year-old man, who was immunocompetent, to the best of our knowledge and as per the absence of immunodeficiency symptoms, with orbital trauma caused by the penetration of a rotten bamboo branch developed lesions in the orbit and brain. Subsequently, he underwent debridement and received broad-spectrum antibiotic therapy, but orbital infection occurred, with drainage of pus through the sinus tract. The patient then underwent endoscope-assisted local debridement. Bacterial culture of the sinusal pus was positive for N. farcinica, and a combined intracranial infection had developed. The disease was treated effectively by trimethoprim-sulfamethoxazole and ceftriaxone sodium therapy. The patient remained infection free and without complications at the 14-month follow-up. CONCLUSIONS: Traumatic orbital and intracranial infection caused by N. farcinica is a rare infectious disease, and atypical presentations easily lead to misdiagnosis. When a patient presents with an atypical orbital infection that is unresponsive to empirical broad-spectrum antibiotics, along with suspicious neurologic symptoms, Nocardia infection should be considered. Identification by bacterial culture is the gold standard. Complete local debridement and appropriate antibiotic treatment are keys to the treatment of the disease.