Many neurologic disorders manifest as psychiatric symptoms. Anti-N-Methyl-D-Aspartate (NMDA) receptor encephalitis is an autoimmune disease of the brain characterized by numerous neurological and psychiatric features. Despite being rare, its prevalence is rapidly increasing and early management is critical in ensuring successful and sustainable recovery. Therefore, the illness should be considered as a differential diagnosis when clinically assessing patients. This report presents a case of a female child who was hospitalized for acute psychiatric manifestations, which was later confirmed as anti-NMDA receptor encephalitis. She recovered relatively successfully after combined neurological and psychiatric treatment. This report provides information on the clinical course of early onset anti-NMDA receptor encephalitis, including treatment strategy and prognosis.
Anti-N-Methyl-D-Aspartate Receptor Encephalitis ; Autoimmune Diseases ; Brain ; Child ; Diagnosis, Differential ; Encephalitis ; Female ; Humans ; Nervous System Diseases ; Prevalence ; Prognosis ; Psychotic Disorders ; Receptors, N-Methyl-D-Aspartate ; Rituximab ; Teratoma

Primary ovarian melanoma arising on a mature ovarian cystic teratoma is extremely rare. As best of our knowledge, to date, 49 cases have been reported in literature. Few information was reported about best management and therapy. We present a case occurred in a 69-year-old woman, without symptoms, who come to our unit for stress incontinence. A pelvic mass was detected and, after imaging evaluation, surgery was performed. The diagnosis was ovarian melanoma arose on a mature teratoma. No other adjuvant treatment was proposed after surgery. She died 9 months after the first diagnosis. Primary ovarian melanoma is a definite entity associated with a variable natural history and poor prognosis. Differential diagnosis is a challenge for the pathologist, because it must be differentiated by metastatic melanoma. The corner stone treatment of this disease is surgery; however, chemotherapy, immunotherapy, and target therapy seem to have a role.
Aged ; Diagnosis ; Diagnosis, Differential ; Drug Therapy ; Female ; Humans ; Immunotherapy ; Melanoma* ; Natural History ; Ovarian Cysts ; Ovarian Neoplasms ; Prognosis ; Teratoma

Mature cystic teratoma (MCT) is the most common ovarian tumor. Secondary malignant tumors rarely arise in MCTs, and squamous cell carcinoma (SCC) is the most common form of such tumors. MCT-derived SCC in situ (CIS) is mostly found together with invasive SCC; it is seldom detected alone. A 44-year-old woman with breast cancer was found to have a left ovarian cyst (size > 8 cm) before treatment. She underwent bilateral salpingo-oophorectomy, and frozen biopsy showed MCT with focal proliferation of squamous epithelium and mild atypism. However, definitive pathologic diagnosis confirmed CIS arising in MCT. In addition, germline BRCA 1/2 test and human papillomavirus test of tumor tissue yielded negative results. This report is the first case of its kind in Korea. Our report can aid in clinical decision making and serve as a basis for follow-up studies on this rare type of CIS arising in MCT.
Adult ; Biopsy ; Breast Neoplasms ; Carcinoma in Situ ; Carcinoma, Squamous Cell* ; Clinical Decision-Making ; Diagnosis ; Epithelial Cells* ; Epithelium ; Female ; Follow-Up Studies ; Humans ; Korea ; Neoplasms, Germ Cell and Embryonal ; Ovarian Cysts ; Teratoma*

Teratomas can occur in almost any region of the body and are the most common extragonadal germ cell childhood tumors. However, craniofacial teratomas are rare. Craniofacial teratomas can present unique features and cause significant functional and aesthetic concerns. There are complex lesions that can have components intra-cranially and extra-cranially. Therefore, their management requires significant multi-stage multidisciplinary surgical procedures. Herein, we present a case of craniofacial teratoma in a child with the phenotype of proboscis lateralis that highlights some of the pertinent point of the diagnosis and management of congenital neonatal teratomas.
Child ; Diagnosis ; Germ Cells ; Humans ; Infant* ; Phenotype ; Skull ; Teratoma*

Benign teratomas of the thyroid are very rare in adolescence and adults. In this review, we report a case of 14-year-old Korean girl with huge neck mass. She presented with anterior neck enlargement and compression symptom which was rapidly aggravated in 2 months. In physical examination, enlarged and firm right thyroid lobe was palpated and laboratory test of thyroid function was normal. In ultrasonography, right lobe was mainly occupied with a solid nodule size of 44×23×25 mm, showing markedly inhomogeneous hypoechogenicity. As fine needle aspiration cytology was non-diagnostic, lobectomy was done. Histological examination demonstrated that the tumor is benign thyroid teratoma composed of tissue from all three germ layers. When large thyroid nodule is detected in adolescence and malignancy could not be ruled out, final diagnosis should be made with surgical resection. And we should at least attentive for possibility of teratomas when ultrasonographic findings are suspicious.
Adolescent* ; Adult ; Biopsy, Fine-Needle ; Diagnosis ; Female ; Germ Layers ; Humans ; Neck ; Physical Examination ; Teratoma* ; Thyroid Gland* ; Thyroid Nodule ; Ultrasonography

BACKGROUND: Immature teratoma (IT) is a tumor containing immature neuroectodermal tissue, primarily in the form of neuroepithelial tubules. However, the diagnosis of tumors containing only cellular neuroglial tissue (CNT) without distinct neuroepithelial tubules is often difficult, since the histological characteristics of immature neuroectodermal tissues remain unclear. Here, we examined the significance of CNT and tried to define immature neuroectodermal tissues by comparing the histological features of neuroglial tissues between mature teratoma (MT) and IT. METHODS: The histological features of neuroglial tissue, including the cellularity, border between the neuroglial and adjacent tissues, cellular composition, mitotic index, Ki-67 proliferation rate, presence or absence of tissue necrosis, vascularity, and endothelial hyperplasia, were compared between 91 MT and 35 IT cases. RESULTS: CNTs with a cellularity grade of ≥ 2 were observed in 96% of IT cases and 4% of MT cases (p < .001); however, CNT with a cellularity grade of 3 in MT cases was confined to the histologically distinct granular layer of mature cerebellar tissue. Moreover, CNT in IT exhibited significantly higher rates of Ki-67 proliferation, mitoses, and necrosis than those in MT (p < .001). Furthermore, an infiltrative border of neuroglial tissue and glomeruloid endothelial hyperplasia were significantly more frequent in IT cases than in MT cases (p < .001). CONCLUSIONS: Our results suggest that if CNT with a cellularity grade of ≥ 2 is not a component of cerebellar tissue, such cases should be diagnosed as IT containing immature neuroectodermal tissue, particularly if they exhibit an infiltrative border, mitoses, necrosis, and increased Ki-67 proliferation.
Diagnosis ; Female ; Hyperplasia ; Mitosis ; Mitotic Index ; Necrosis ; Neural Plate ; Neuroglia ; Ovary ; Teratoma*

Neonatal hydrocolpos is a rare condition that involves fluid accumulation in the vagina. On diagnostic imaging, the dilated vagina, along with the compressed uterus, can simulate a mature cystic teratoma with a mural nodule. Herein, we report the case of a newborn girl with congenital hydrocolpos that was caused by an imperforate hymen; the hydrocolpos mimicking a mature cystic teratoma on abdominal ultrasonography and magnetic resonance imaging. Any newborn girl with a pelvic cystic mass should be suspected as having a congenital vaginal obstruction manifesting as hydrocolpos or hydrometrocolpos. Thorough examination of the external genitalia, as well as imaging of the uterus and vagina, enables correct diagnosis and optimal treatment.
Diagnosis ; Diagnostic Imaging ; Female ; Genitalia ; Humans ; Hydrocolpos* ; Hymen ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Pelvis* ; Teratoma* ; Ultrasonography ; Uterus ; Vagina

Post-therapeutic whole body scan (RxWBS) after radioactive iodine (RAI) remnant ablation (RRA) is useful for detect recurrent or metastatic foci of differentiated thyroid carcinoma (DTC) after total thyroidectomy. However, there is rare possibility of false positive iodine uptake in WBS. Here, we report a case of a 72-year-old woman, who underwent RRA after total thyroidectomy due to follicular variant papillary thyroid carcinoma. There is an abnormal iodine uptake in RxWBS in pelvic cavity. Additional single photon emission computed tomography (SPECT)-computed tomography (CT) imaging showed an intensive I-131 avid mass in left ovary. There was a multiple calcified mass in left ovary and enhancing wall thickening in left ureter with hydronephrosis in contrast enhanced CT. She underwent hysterectomy, oophorectomy, left ureterectomy and nephrectomy and diagnosed as mature cystic teratoma with thyroid tissues and ureter cancer. Struma ovarii should be considered if there was abnormal RAI uptake in pelvic cavity. I-131 SPECT-CT is useful for differential diagnosis of abnormal iodine uptakes in WBS.
Aged ; Diagnosis, Differential ; Female ; Humans ; Hydronephrosis ; Hysterectomy ; Iodine ; Nephrectomy ; Ovariectomy ; Ovary ; Struma Ovarii* ; Teratoma ; Thyroid Gland* ; Thyroid Neoplasms* ; Thyroidectomy ; Tomography, Emission-Computed, Single-Photon ; Ureter ; Ureteral Neoplasms ; Whole Body Imaging*

Post-therapeutic whole body scan (RxWBS) after radioactive iodine (RAI) remnant ablation (RRA) is useful for detect recurrent or metastatic foci of differentiated thyroid carcinoma (DTC) after total thyroidectomy. However, there is rare possibility of false positive iodine uptake in WBS. Here, we report a case of a 72-year-old woman, who underwent RRA after total thyroidectomy due to follicular variant papillary thyroid carcinoma. There is an abnormal iodine uptake in RxWBS in pelvic cavity. Additional single photon emission computed tomography (SPECT)-computed tomography (CT) imaging showed an intensive I-131 avid mass in left ovary. There was a multiple calcified mass in left ovary and enhancing wall thickening in left ureter with hydronephrosis in contrast enhanced CT. She underwent hysterectomy, oophorectomy, left ureterectomy and nephrectomy and diagnosed as mature cystic teratoma with thyroid tissues and ureter cancer. Struma ovarii should be considered if there was abnormal RAI uptake in pelvic cavity. I-131 SPECT-CT is useful for differential diagnosis of abnormal iodine uptakes in WBS.
Aged ; Diagnosis, Differential ; Female ; Humans ; Hydronephrosis ; Hysterectomy ; Iodine ; Nephrectomy ; Ovariectomy ; Ovary ; Struma Ovarii* ; Teratoma ; Thyroid Gland* ; Thyroid Neoplasms* ; Thyroidectomy ; Tomography, Emission-Computed, Single-Photon ; Ureter ; Ureteral Neoplasms ; Whole Body Imaging*

ObjectiveTo study the pathological morphology, immunohistochemical characteristics, and molecular changes of type Ⅱ testicular germ cell tumors (TGCT) and investigate the possible value of immunohistochemistry and fluorescence in situ hybridization (FISH) in the diagnosis of TGCT.

METHODSWe collected for this study 97 cases of TGCT, including 75 cases of seminoma, 17 cases of embryonal carcinoma, 11 cases of yolk sac tumor, 16 cases of mature teratoma, 3 cases of immature teratoma, and 1 case of epidermoid cyst, in which normal testicular tissue was found in 20 and non-TGCT in 6. We detected the expressions of different antibodies in various subtypes of TGCT by immunohistochemistry and determined the rate of chromosome 12p abnormality using FISH.

RESULTSThe immunophenotypes varied with different subtypes of TGCT. SALL4 and PLAP exhibited high sensitivity in all histological subtypes. CD117 and OCT4 showed strongly positive expressions in invasive seminoma and germ cell neoplasia in situ (GCNIS) but not in normal seminiferous tubules. GPC3 was significantly expressed in the yolk sac tumor, superior to GATA3 and AFP in both range and intensity. CKpan, OCT4, and CD30 were extensively expressed in embryonal carcinoma, while HCG expressed in choriocarcinoma. The positivity rate of isochromosome 12p and 12p amplification in TGCT was 96.7% (29/30).

CONCLUSIONSThe majority of TGCT can be diagnosed by histological observation, but immunohistochemical staining is crucial for more accurate subtypes and valuable for selection of individualized treatment options and evaluation of prognosis. Chromosome 12p abnormality is a specific molecular alteration in type Ⅱ TGCT, which is useful for ruling out other lesions.

Biomarkers, Tumor ; metabolism ; Carcinoma, Embryonal ; diagnosis ; genetics ; metabolism ; pathology ; Chromosome Aberrations ; Chromosomes, Human, Pair 12 ; Endodermal Sinus Tumor ; diagnosis ; genetics ; metabolism ; pathology ; Genetic Markers ; Humans ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; Male ; Neoplasms, Germ Cell and Embryonal ; diagnosis ; genetics ; metabolism ; pathology ; Prognosis ; Seminiferous Tubules ; metabolism ; Seminoma ; diagnosis ; genetics ; metabolism ; pathology ; Teratoma ; diagnosis ; genetics ; metabolism ; pathology ; Testicular Neoplasms ; diagnosis ; genetics ; metabolism ; pathology