Case Report: Five Adult Cases of H3K27-Altered Diffuse Midline Glioma in the Spinal Cord

BackgroundDiffuse midline glioma with H3K27-altered (DMG-H3K27a) is a novel tumor entity of the pediatric-type diffuse high-grade tumor in the latest WHO CNS 5. It mostly affects children and is only rarely found in adults. The tumor has a high level of aggressiveness, with a rapid progression and bad prognosis. In adults, the spinal cord is the most common site of DMG-H3K27a. Rare adult cases of primary DMG-H3K27a in the spinal cord were reported in this study, together with clinico-histopathologico-radiographic data.MethodsFrom January 2016 to December 2020, we conducted a retrospective study of five adults with primary DMG-H3K27a in the spinal cord, analyzing their clinical, pathohistological, and radiographic datasets from the first diagnosis to follow-up.ResultsAll five patients were diagnosed for the first time and were given full treatment. In three of the five patients, post-operative follow-up revealed tumor recurrence. The longest survival of the five patients was 45 months at the time of report submission, while the longest progression-free survival (PFS) following surgery was 20 months. Immunohistochemical studies showed the tumors featured aggressive behavior (grade 4) and were positive for the H3K27M mutation. The radiographic appearances were varied, but they were all initially mistaken as benign. DMG-H3K27a in the spinal cord was characterized by isointense/hyperintense on T1WI and isointense/hyperintense on T2WI, as well as cystic necrosis and peripheral spinal cord edema, as well as central canal enlargement and other types of enhancement.ConclusionThis is the first case report focusing on adult DMG-H3K27a of the pediatric-type diffuses high-grade gliomas in the spinal cord. In our cases, we discovered the following: 1) adults had a better prognosis with a longer PFS compared with prior pediatric reports; 2) despite aggressive behavior under the microscope, radiographic appearances of the tumors were less aggressive; and 3) adjuvant treatment, including TCM, may have played a role in the prognosis.

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Pediatric spinal cord diffuse midline glioma, H3 K27-altered with intracranial and spinal leptomeningeal spread: A case report

The Neuroradiology Journal ◽

10.1177/19714009211067402 ◽

2022 ◽

pp. 197140092110674

Author(s):

Bettina L Serrallach ◽

Brandon H Tran ◽

David F Bauer ◽

Carrie A Mohila ◽

Adekunle M Adesina ◽

...

Keyword(s):

Spinal Cord ◽

Case Report ◽

Female Adolescent ◽

Rapid Progression ◽

Imaging Features ◽

High Grade ◽

Who Grade ◽

Leptomeningeal Seeding ◽

High Grade Gliomas ◽

Diffuse Midline Glioma

Primary spinal cord high-grade gliomas, including those histologically identified as glioblastoma (GBM), are a rare entity in the pediatric population but should be considered in the differential diagnosis of intramedullary lesions. Pediatric spinal cord high-grade gliomas have an aggressive course with poor prognosis. The aim of this case report is to present a 15-year-old female adolescent with histopathologically confirmed spinal cord GBM with H3F3A K27 M mutation consistent with a diffuse midline glioma (DMG), H3 K27-altered, CNS WHO grade 4 with leptomeningeal seeding on initial presentation. As imaging features of H3 K27-altered DMGs are non-specific and may mimic more frequently encountered neoplastic diseases as well as demyelinating disorders, severe neurological deficits at presentation with short duration, rapid progression, and early leptomeningeal seeding should however raise the suspicion for a pediatric-type diffuse high-grade glioma like DMG, H3 K27-altered.

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LGG-16. PILOMYXOID ASTROCYTOMA OF THE CERVICAL SPINAL CORD IN A 7-YEAR-OLD ARMENIAN BOY: A CASE REPORT

Neuro-Oncology ◽

10.1093/neuonc/noaa222.398 ◽

2020 ◽

Vol 22 (Supplement_3) ◽

pp. iii369-iii369

Author(s):

Anna Avagyan ◽

Lilit Sargsyan ◽

Julia Hoveyan ◽

Samvel Iskanyan ◽

Samvel Bardakhchyan ◽

...

Keyword(s):

Spinal Cord ◽

Case Report ◽

Aggressive Behavior ◽

Treatment Guidelines ◽

Standard Dose ◽

Braf V600e ◽

Intramedullary Tumor ◽

Rapid Progression ◽

Efficient Treatment ◽

Pilomyxoid Astrocytoma

Abstract BACKGROUND Pilomyxoid astrocytoma (PMA) is a glial tumor that occurs predominantly in the hypothalamic-chiasmatic region and rarely in spinal cord. It has similar features as pilocytic astrocytomas, with some distinct histological characteristics and worse prognosis. The 2007 WHO recognized PMA as a Grade II glioma due to its aggressive behavior and dissemination tendency, but according to 2016 version grading of the pilomyxoid variant is under research. Here we report a case with a rare location, aggressive behavior and rapid progression. CASE PRESENTATION: A 7-year-old boy presented with headache, nausea, vomiting. Imaging revealed an intramedullary tumor extending from C2 to C6 with hydrocephalus. A ventriculo-peritoneal shunt and complete surgical resection were performed with significant improvement in the patient’s condition. Histopathological findings were consistent with pilomyxoid variant of pilocytic astrocytoma, with negative BRAF V600E and MGMT. Three months later, the follow-up imaging revealed disease recurrence with leptomeningeal metastases, for which the patient received standard-dose craniospinal irradiation 35.2 Gy with boosts to tumor bed and metastatic sites 49.6 Gy and 54 Gy respectively. 11 months later tumor progression was revealed with new metastatic lesions in the bones. Patient received 6 cycles of chemotherapy with TMZ and Avastin, but continued to suffer disease progression on therapy and he succumbed to his disease at 24 months from diagnosis. CONCLUSION Given the rarity of documented patients with spinal pilomyxoid astrocytoma with rapid progression, as well as the lack of certain WHO classification and treatment guidelines, this case report might be useful for development of more efficient treatment strategies.

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Rapid deterioration of an asymptomatic lumbosacral lipoma due to formation of an extracanalicular syrinx: case report

Journal of Neurosurgery Pediatrics ◽

10.3171/2020.7.peds20512 ◽

2020 ◽

pp. 1-6

Author(s):

Yumiko Komori ◽

Masahiro Nonaka ◽

Takamasa Kamei ◽

Junichi Takeda ◽

Tetsuo Hashiba ◽

...

Keyword(s):

Spinal Cord ◽

Case Report ◽

Motor Function ◽

Central Canal ◽

Spinal Lipoma ◽

Lumbosacral Lipoma ◽

Rapid Deterioration ◽

Postoperative Mri ◽

Mri Study

The authors present the case of a 1-month-old girl with a lumbosacral lipoma who then developed an extracanalicular syrinx and experienced rapid deterioration. The patient’s initial MRI study, obtained before she became symptomatic, revealed a spinal lipoma with a syrinx in contact with the lipoma-cord interface. She was initially asymptomatic but developed loss of motor function in the left leg 14 days after MRI. Emergency surgery was performed. Intraoperative findings revealed a swollen spinal cord. Lipomatous tissue on the caudal side of the conus was removed subtotally, and the central canal was opened. Expansion of the syrinx was observed intraoperatively. Postoperatively, the patient’s left leg paresis remained. Postoperative MRI revealed rostral and extracanalicular expansion of the syrinx. This is the first report on the rapid deterioration of a conus lipoma due to extracanalicular expansion of a syrinx. Careful follow-up and repeat MRI should be considered for patients with spinal lipomas with syringomyelia, especially when the syrinx is attached to the lipoma-cord interface.

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First reported case of penile prosthesis infection from brucellosis: case report

African Journal of Urology ◽

10.1186/s12301-020-00090-1 ◽

2020 ◽

Vol 26 (1) ◽

Author(s):

Nabil Nabil Moohialdin ◽

Ahmad Shamsodini ◽

Steven K. Wilson ◽

Osama Abdeljaleel ◽

Ibrahim Alnadhari ◽

...

Keyword(s):

Case Report ◽

Broad Spectrum ◽

Surgical Intervention ◽

Penile Prosthesis ◽

Raw Milk ◽

Prosthesis Infection ◽

Case Presentation ◽

First Case ◽

Milk Ingestion

Abstract Background Infection after the penile prosthesis can be devastating to both the patient and surgeon with various complications and consequences. After introduction of antibiotic-coated implants, the rate of infection has dramatically decreased, but still we see uncommon organisms causing infection. We present a first case report of penile prosthesis infection by brucellosis due to raw milk ingestion. To our knowledge, this is the first reported case of brucellosis penile prosthesis infection. Case presentation We present a first case report of penile prosthesis infection by brucellosis due to raw milk ingestion. A 75-year-old, diabetic male patient presented with penile prosthesis infection 5 months post-penile exchange surgery due to mechanical malfunctioning of 2-piece penile prosthesis which was inserted 11 years ago. The initial treatment with broad spectrum antibiotics did not subside the infection. After diagnosis of brucellosis, the antibiotic was changed to anti-brucellosis (Rifampicin + Tetracycline). The patient improved dramatically and was discharged home with smooth follow-up course. Conclusion Brucellosis can cause infection of penile prosthesis and can be treated with anti-brucellosis antibiotics without necessitating surgical intervention and removal of prosthesis.

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CONGENITAL MICROGASTRIA, A CASE REPORT WITH A 26-YEAR FOLLOW-UP

PEDIATRICS ◽

10.1542/peds.51.6.1037 ◽

1973 ◽

Vol 51 (6) ◽

pp. 1037-1041

Author(s):

Eugene Blank ◽

Alvin Chisolm

Keyword(s):

Case Report ◽

English Language ◽

Normal Adult ◽

Healthy Children ◽

Adult Size ◽

Persistent Vomiting ◽

First Case ◽

English Language Journal ◽

Roentgenographic Examination

A 27-year-old woman had congenital microgastria, which was apparent in roentgenographic examination when she was 1 year of age. Despite inability to eat anything but pureed foods for the first 13 years and despite persistent vomiting during that time, she has reached normal adult size and has three healthy children. This report represents two firsts: the first case of congenital microgastria in an English language journal of pediatrics and the first with a long follow-up.

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KAI-1 Expression in Pediatric High-Grade Osteosarcoma

Pediatric and Developmental Pathology ◽

10.2350/11-05-0137.1 ◽

2006 ◽

Vol 9 (3) ◽

pp. 219-224 ◽

Cited By ~ 2

Author(s):

Patrick J. Leavey ◽

Charles Timmons ◽

William Frawley ◽

Donald Lombardi ◽

Raheela Ashfaq

Keyword(s):

Prognostic Markers ◽

Clinical Phenotype ◽

Tumor Resection ◽

Progression Free Survival ◽

Surface Proteins ◽

High Grade ◽

Free Survival ◽

Treatment Groups ◽

High Grade Osteosarcoma

Recent evidence implicates cell surface proteins of the tetraspanin superfamily in the process of metastasis whereas the downregulation of KAI-1, a member of the tetraspanin family, is associated with an aggressive clinical phenotype in several types of human cancers. To determine if expression of KAI-1-1 is associated with any known prognostic marker or clinical outcome in high-grade osteosarcoma, we examined 91 nondecalcified archival samples from 47 patients for the expression of KAI-1. Archival, paraffin-embedded, and decalcified pathologic samples were examined by immunohistochemistry and results were correlated to clinical outcomes and known prognostic markers. There were 46 samples from diagnostic biopsies (1 diagnostic sample was not available), 32 tumor resection samples, and 13 metastasis samples. Thirty-three percent (n = 30) of the samples expressed KAI-1 (16 biopsies, 9 resections, and 5 metastasis). KAI-1 expression was not significantly related to known prognostic markers or to either tumor necrosis after neoadjuvant therapy or the incidence of metastasis at diagnosis. KAI-1 expression was not significantly different between paired diagnostic tumor samples and either resection or metastasis tumor samples. Twenty-five patients remain alive at a median follow-up of 95 months. The overall and progression-free survival percentages at 5 years were 62% and 47% for KAI-1-positive patients and 49% and 38% for KAI-1-negative patients, respectively. This difference was not statistically significant. We conclude that KAI-1 is expressed in a proportion of high-grade osteosarcoma but is not of clinical significance and cannot be used to stratify treatment groups for these patients.

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Spinal cord compression in b-thalassemia: follow-up after radiotherapy

Sao Paulo Medical Journal ◽

10.1590/s1516-31801998000600009 ◽

1998 ◽

Vol 116 (6) ◽

pp. 1879-1881 ◽

Cited By ~ 3

Author(s):

Silvana Fahel da Fonseca ◽

Maria Stella Figueiredo ◽

Rodolfo Delfini Cançado ◽

Fernando Nakandakare ◽

Roberto Segreto ◽

...

Keyword(s):

Spinal Cord ◽

Case Report ◽

Spinal Cord Compression ◽

Low Dose ◽

Extramedullary Hematopoiesis ◽

Cord Compression ◽

Hematologic Disorders ◽

Rare Syndrome ◽

Low Dose Radiotherapy

CONTEXT: Spinal cord compression due to extramedullary hematopoiesis is a well-described but rare syndrome encountered in several clinical hematologic disorders, including b-thalassemia. CASE REPORT: We report the case of a patient with intermediate b-thalassemia and crural paraparesis due to spinal cord compression by a paravertebral extramedullary mass. She was successfully treated with low-dose radiotherapy and transfusions. After splenectomy, she was regularly followed up for over four years without transfusion or recurrence of spinal cord compression. DISCUSSION: Extramedullary hematopoiesis should be investigated in patients with hematologic disorders and spinal cord symptoms. The rapid recognition and treatment with radiotherapy can dramatically alleviate symptoms.

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Myelopathy in sickle cell disease: a case-oriented review

10.5327/1516-3180.563 ◽

2021 ◽

Author(s):

Igor Vilela Brum ◽

Guilherme Diogo Silva ◽

Diego Sant'Ana Sodre ◽

Felipe Melo Nogueira ◽

Samira Luisa dos Apostolos Pereira ◽

...

Keyword(s):

Spinal Cord ◽

Case Report ◽

Sickle Cell Disease ◽

Sickle Cell ◽

Case Reports ◽

Spinal Cord Infarction ◽

Sensory Level ◽

Cell Disease ◽

Hematopoietic Tissue ◽

First Case

Background: Although neurological complications are well recognized in sickle cell disease (SCD), myelopathy has been rarely described. We present the first case report of longitudinally extensive myelitis (LETM) in SCD and review the differential diagnosis of myelopathy in these patients. Design and setting: case-oriented review. Methods: We report the case of a 29-year-old African-Brazilian man with SCD, who experienced a subacute flaccid paraparesis, with T2 sensory level and urinary retention. CSF analysis showed a lymphocytic pleocytosis and increased protein levels. MRI disclosed a longitudinally extensive spinal cord lesion, with a high T2/STIR signal extending from C2 to T12. Serum anti-aquaporin-4 antibody was negative. We searched Medline/ PubMed, Embase, Scopus, and Google Scholar databases for myelopathy in SCD patients. Results: Spinal cord compression by vertebral fractures, extramedullary hematopoietic tissue, and Salmonella epidural abscess have been reported in SCD. We found only three case reports of spinal cord infarction, which is unexpectedly infrequent compared to the prevalence of cerebral infarction in SCD. We found only one case report of varicella-zoster myelitis and no previous report of LETM in SCD patients. Conclusion: Specific and time-sensitive causes of myelopathy should be considered in SCD patients. In addition to compression and ischemia, LETM should be considered as a possible mechanism of spinal cord involvement in SCD.

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Teratoma of larynx: case report

International Journal of Otorhinolaryngology and Head and Neck Surgery ◽

10.18203/issn.2454-5929.ijohns20213909 ◽

2021 ◽

Vol 7 (10) ◽

pp. 1700

Author(s):

Rakesh Srivastava ◽

Vini Tandon

Keyword(s):

Carbon Dioxide ◽

Case Report ◽

Germ Cells ◽

Carbon Dioxide Laser ◽

Rare Case ◽

Histopathological Examination ◽

Flexible Laryngoscopy ◽

First Case ◽

Congenital Teratoma

Teratomas are embryonal neoplasm arises from totipotent germ cells. They are having tissues from all the three blastodermic layers. There are various locations of congenital teratoma. Naso-oropharyngeal site teratoma are either sessile or pedunculated. We describe a rare case of laryngeal teratoma in a five years old patient presented with change in voice and breathing difficulty. On flexible laryngoscopy, it appeared like supraglottic cyst but on CT scan it was confirmed as teratoma. Pre-operative tracheostomy and transoral carbon dioxide laser assisted excision done. Histopathological examination showed osteoid trabeculae, chondroid tissue with loose myxoid islands and adipose tissue. No recurrence of tumor on 18 months follow-up. This is the first case report of pediatric larynx teratoma reported in present century.

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Repeat decompression surgery for recurrent spinal metastases

Journal of Neurosurgery Spine ◽

10.3171/2010.3.spine08670 ◽

2010 ◽

Vol 13 (1) ◽

pp. 109-115 ◽

Cited By ~ 23

Author(s):

Ilya Laufer ◽

Andrew Hanover ◽

Eric Lis ◽

Yoshiya Yamada ◽

Mark Bilsky

Keyword(s):

Spinal Cord ◽

Survival Time ◽

Median Survival ◽

Spinal Cord Compression ◽

Median Survival Time ◽

Eastern Cooperative Oncology Group ◽

Cord Compression ◽

Decompression Surgery ◽

High Grade

Object In this paper, the authors' goal was to determine the outcome of reoperation for recurrent epidural spinal cord compression in patients with metastatic spine disease. Methods A retrospective chart review was conducted of all patients who underwent spine surgery at the Memorial Sloan-Kettering Cancer Center between 1996 and 2007. Thirty-nine patients who underwent reoperation of the spine at the level previously treated with surgery were identified. Only patients whose reoperation was performed because of tumor recurrence leading to high-grade epidural spinal cord compression or recurrence with no further radiation options were included in the study. Patients who underwent reoperations exclusively for instrumentation failure were excluded. All patients underwent additional decompression via a posterolateral approach without removal of the spinal instrumentation. Results Patients underwent 1–4 reoperations at the same level. A median survival time of 12.4 months was noted after the first reoperation, and a median survival time of 9.1 months was noted after the last reoperation. At last follow-up 22 (65%) of 34 patients were ambulatory at the time of last follow-up or death, and the median time between loss-of-ambulation and death was 1 month. Functional status was maintained or improved by one Eastern Cooperative Oncology Group grade in 97% of patients. A major surgical complication rate of 5% was noted. Conclusions Reoperation represents a viable option in patients with high-grade epidural spinal cord compression who have recurrent metastatic tumors at previously operated spinal levels. In carefully selected patients, reoperation can prolong ambulation and result in good functional and neurological outcomes.

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