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Neurology(R) Neuroimmunology &... May 2024Paraneoplastic neurologic syndromes (PNSs) are remote neurologic immune-related effects of tumors. The clinical characteristics of pediatric PNSs remain unclear. We...
BACKGROUND AND OBJECTIVES
Paraneoplastic neurologic syndromes (PNSs) are remote neurologic immune-related effects of tumors. The clinical characteristics of pediatric PNSs remain unclear. We retrospectively examined the clinical characteristics of cases of pediatric PNSs and assessed the performance of the 2021 diagnostic criteria in children.
METHODS
Patients hospitalized in the Beijing Children's Hospital between June 2015 and June 2023 and fulfilling the description of by 2004 diagnostic criteria of PNSs were included. A retrospective analysis of clinical characteristics was conducted, and the 2021 diagnostic criteria were applied to rediagnostic stratification.
RESULTS
Among the 42 patients included, the most common neurologic syndrome was opsoclonus-myoclonus syndrome (OMS) (62%), followed by rapidly progressive cerebellar syndrome (26%). Most tumors were neuroblastomas (88%), with few being ovarian teratomas (10%). Approximately 71% (30/42) of patients were classified as definite and 24% (10/42) as according to the 2021 criteria. All cases judged as probable exhibited rapidly progressive cerebellar ataxia with neuroblastoma. For OMS, chemotherapy was administered based on the tumor's risk stage, accompanied by regular infusion of IV gamma globulin and oral steroids following tumor diagnosis. Twenty-one patients underwent regular follow-ups over 4.92 (0.58-7.58) years. The initial hospitalization recorded a median score of 12 (7-14) on the Mitchell and Pike OMS rating scale, decreasing to 0 (0-5) at the final follow-up. In cases of rapidly progressive cerebellar syndrome, a similar therapeutic regimen was used. Nine patients underwent regular follow-ups over 4.42 (1.17-7.50) years. The mean modified Rankin scale score at first hospitalization was 4 (3-4), reducing to 1 (0-4) at the final follow-up. Only 17% (5/30) of patients across both groups exhibited poor response to this regimen. Among these 5 patients, 4 belonged to the low-risk group (without chemotherapy).
DISCUSSION
OMS followed by rapidly progressive cerebellar ataxia are the most common forms of PNSs in children and are associated with neuroblastoma. An aggressive approach with multiple immunotherapies may improve the prognosis of neuroblastoma-associated PNSs. The 2021 criteria perform well in pediatric PNSs. However, we propose upgrading the classification of antibody-negative rapidly progressive cerebellar ataxia with neuroblastoma to definite diagnosis. This adjustment aims to further improve the diagnostic efficacy of this diagnostic criterion in childhood.
Topics: Humans; Female; Male; Retrospective Studies; Child, Preschool; Child; Paraneoplastic Syndromes, Nervous System; Infant; Opsoclonus-Myoclonus Syndrome; Adolescent; Neuroblastoma
PubMed: 38657195
DOI: 10.1212/NXI.0000000000200242 -
Surgical Case Reports Apr 2024Colorectal cancer (CRC) is one of the most common cancers worldwide, and screening colonoscopy has led to a decreasing incidence rate. However, the incidence of CRC is...
BACKGROUND
Colorectal cancer (CRC) is one of the most common cancers worldwide, and screening colonoscopy has led to a decreasing incidence rate. However, the incidence of CRC is increasing among young people, especially adolescents and young adults (AYAs) who are not routinely screened. Although CRC is the fourth most common cancer among AYAs, it is extremely rare. In younger patients, CRC is often diagnosed later, and the proportion of patients with advanced CRC is higher than that in older patients. We herein present a case of poorly differentiated mucinous carcinoma of the ascending colon complicated by bilateral ovarian mature cystic teratomas (MCTs) in an AYA.
CASE PRESENTATION
A 17-year-old female patient presented with a chief complaint of abdominal pain and diarrhea that had persisted for more than 3 years. Colonoscopy revealed circumferential wall thickening of the ascending colon, and colonic biopsy revealed a mucous mass and findings of adenocarcinoma, predominantly signet ring cell carcinoma. Abdominal computed tomography (CT) and pelvic magnetic resonance imaging (MRI) showed bilateral ovarian tumors. Laparoscopic right hemicolectomy and enucleation of bilateral ovarian tumors were performed. Although the ascending colon cancer formed a large mass, there were no signs of peritoneal dissemination or direct invasion to the surrounding organs. Microscopically, the ascending colon was a poorly differentiated mucinous carcinoma with signet ring cell carcinoma and lymph node metastasis (9/42). The ovarian tumors were diagnosed as MCTs without any malignant components. The pathological diagnosis was ascending colon cancer (pT4aN2bM0, pStage IIIC) and bilateral ovarian MCTs. Microsatellite instability (MSI) testing was negative, and there were no gene mutations in either RAS or BRAF. Postoperative adjuvant chemotherapy with oxaliplatin and 5-FU was started.
CONCLUSIONS
We presented a case of locally advanced ascending colon cancer in a 17-year-old female patient. CRC rarely occurs in AYAs. However, the incidence has gradually increased in recent years. It should be considered as a differential diagnosis for young patients with long-term abdominal symptoms of unknown cause.
PubMed: 38652340
DOI: 10.1186/s40792-024-01892-z -
International Journal of Gynecological... Apr 2024
PubMed: 38641366
DOI: 10.1136/ijgc-2023-005118 -
Journal of Surgical Case Reports Apr 2024Hirschprung's disease is a congenital disorder characterized by aganglionic bowel, usually diagnosed in infancy. Here, we present a unique case of Hirschprung's disease...
Hirschprung's disease is a congenital disorder characterized by aganglionic bowel, usually diagnosed in infancy. Here, we present a unique case of Hirschprung's disease diagnosed in a 29-year-old female with acute on chronic constipation. As part of her work up, a computerized tomography of her abdomen and pelvis revealed large, bilateral dermoid cysts. A diagnostic and therapeutic colonoscopy allowed manual disimpaction and decompression of her bowel, as well as biopsy attainment. Histopathology revealed absence of ganglionic cells on haematoxylin and eosin stain and calretinin immunostaining. This case underscores the diagnostic challenges of Adult Hirschprung's disease and how this impacts patient quality of life, as well as the work up and management of concurrent causes abdominopelvic conditions.
PubMed: 38638925
DOI: 10.1093/jscr/rjae227 -
BMJ Case Reports Apr 2024Gliomatosis peritonei (GP) and Growing Teratoma Syndrome (GTS) are rare and clinically significant conditions often associated with ovarian teratomas. GP involves the...
Gliomatosis peritonei (GP) and Growing Teratoma Syndrome (GTS) are rare and clinically significant conditions often associated with ovarian teratomas. GP involves the development of benign glial implants on the peritoneal surface, while GTS is characterised by the growth of benign, yet enlarging peritoneal implants following chemotherapy for malignant germ cell tumours. These implants are typically histologically mature teratomas devoid of malignancy. Our report documents a unique case where both GP and GTS manifested in a patient undergoing treatment for an immature ovarian teratoma. This dual occurrence is scarcely reported in the existing literature. The patient, a nulliparous woman in her 20s, developed a tumour indicative of GTS immediately after completing three cycles of bleomycin, etoposide and cisplatin therapy. This chemotherapy regimen followed fertility-sparing surgery for a stage IIIb ovarian immature teratoma. Given that total tumour resection is pivotal in positively influencing the prognosis of GTS, early minimally invasive surgical intervention before significant tumour growth is essential. This approach is particularly crucial considering that ovarian germ cell tumours are commonly present in younger patients, necessitating a focus on fertility preservation in most cases.
Topics: Female; Humans; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms; Prognosis; Teratoma; Young Adult
PubMed: 38627058
DOI: 10.1136/bcr-2023-257326 -
Clinical Case Reports Apr 2024Struma ovarii (SO), is a rare and specialized ovarian teratoma. The treatment is controversial depending on the risk of recurrence and metastasis. Here a SO with...
KEY CLINICAL MESSAGE
Struma ovarii (SO), is a rare and specialized ovarian teratoma. The treatment is controversial depending on the risk of recurrence and metastasis. Here a SO with papillary thyroid carcinoma is reported and the approach is thoroughly discussed.
ABSTRACT
Struma ovarii (SO) is a highly specialized ovarian teratoma primarily composed of thyroid tissue. Clinical features associated with SO include lower abdominal discomfort, unusual vaginal bleeding, ascites, and hyperthyroidism. While SO rarely transforms into malignancy, the optimal degree of treatment remains controversial due to the varying risks of recurrence and metastasis. In this report, we present the case of a 64-year-old woman experiencing abdominal pain and diagnosed with SO, accompanied by papillary thyroid carcinoma. We thoroughly discuss the evaluation and management of this rare condition.
PubMed: 38617068
DOI: 10.1002/ccr3.8610 -
Endocrinology, Diabetes & Metabolism... Apr 2024Struma ovarii is an ovarian teratoma that comprises 2-5% of all ovarian teratomas. Malignant transformation of struma ovarii occurs in less than 5% of all cases, and...
SUMMARY
Struma ovarii is an ovarian teratoma that comprises 2-5% of all ovarian teratomas. Malignant transformation of struma ovarii occurs in less than 5% of all cases, and metastatic disease is even rarer. We report two cases initially diagnosed with benign struma ovarii that presented malignant transformation, specifically highly differentiated follicular carcinoma of the ovary (HDFCO), some years after the first diagnosis. Case 1 concerns a 37-year-old female featuring HDFCO of the right ovary with multiple metastatic foci, who was diagnosed with benign struma ovarii 14 years ago. Case 2 concerns a 26-year-old female diagnosed with HDFCO of the left ovary. This patient was initially diagnosed with benign struma ovarii 6 years ago that recurred 4 years after the diagnosis. Both patients were treated with surgery, adjunctive total thyroidectomy, and radioactive iodine (131I) therapy.
LEARNING POINTS
Malignant transformation of struma ovarii is very rare (<5%). Diagnosis of HDFCO without extra ovarian dissemination is difficult due to the resemblance of its histological appearance with normal thyroid tissue. There is no consensus on the postoperative treatment of malignant struma ovarii (MSO). Clinical and histological features of MSO should be assessed for the postoperative treatment decisions. TSH suppression and thyroglobulin level measurements are necessary for patient follow-up.
PubMed: 38614119
DOI: 10.1530/EDM-23-0122 -
Diagnostic challenges in primary ovarian carcinoid: Insights from radiological imaging-A case study.Journal of Clinical Ultrasound : JCU Apr 2024Primary ovarian carcinoid (POC) is a very rare subset of ovarian tumors, presenting diagnostic challenges due to its inconclusive radiological imaging. In this case...
Primary ovarian carcinoid (POC) is a very rare subset of ovarian tumors, presenting diagnostic challenges due to its inconclusive radiological imaging. In this case study, we present a 30-year-old nulliparous female with subfertility complaints and irregular menstrual cycles, who was initially misdiagnosed with an ovarian cyst. Subsequent comprehensive imaging, including Color Doppler, revealed high vascularity, and prompting suspicion of malignancy. Surgical resection and histopathological evaluation ultimately confirmed the presence of a rare Carcinoid tumor, insular type. This case emphasizes a multidisciplinary approach to the early detection and accurate diagnosis of POCs.
PubMed: 38597286
DOI: 10.1002/jcu.23687 -
Gynecologic Oncology Reports Jun 2024•Chronic chemical peritonitis caused by spontaneous rupture of a mature cystic teratoma may result in prolonged hospitalization and respiratory decline and can mimic a...
•Chronic chemical peritonitis caused by spontaneous rupture of a mature cystic teratoma may result in prolonged hospitalization and respiratory decline and can mimic a gynecologic malignancy.•Earlier surgical intervention for mature teratoma may prevent morbidity.•Inclusion of a gynecologic oncologist is advised for management discussions and/or surgical back-up.•Complex benign gynecologic surgeries may have some benefit for gynecologic oncologic trainees, which can be used for later oncologic cases.
PubMed: 38596159
DOI: 10.1016/j.gore.2024.101386 -
World Journal of Clinical Cases Mar 2024Immature ovarian teratoma is a rare and aggressive neoplasm that affects young women. This report is the first to describe the development of immature teratoma after...
BACKGROUND
Immature ovarian teratoma is a rare and aggressive neoplasm that affects young women. This report is the first to describe the development of immature teratoma after ovarian cystectomy for mature teratoma of the ovary in an adolescent female with a family history of ovarian teratoma.
CASE SUMMARY
A 16-year-old girl who had undergone bilateral ovarian cystectomy for mature teratomas 3 years ago showed bilateral adnexal tumors during her regular ultrasonography follow-up every 6 months. She received laparoscopic bilateral ovarian cystectomy, and final histopathology showed grade-1 immature teratoma of the left ovary and mature teratoma of the right ovary. Laparoscopic left salpingo-oophorectomy and staging procedures were performed again. Her mother, maternal aunt, and maternal grandmother had also received surgeries for mature ovarian teratomas.
CONCLUSION
It is important to have guidance on management of patient and family members with familial ovarian teratomas.
PubMed: 38576805
DOI: 10.12998/wjcc.v12.i8.1442