Spinal Dysraphism Presenting as Neuropathic Ulcers: A Case Report of a Delayed Diagnosis
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SUBMITTER: Al-Luhaibi R
PROVIDER: S-EPMC10601735 | biostudies-literature | 2023 Jan
REPOSITORIES: biostudies-literature
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Project description:Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic variants in the Yin Yang 1 (YY1) gene. Individuals with this syndrome present with multiple congenital anomalies, as well as a delay in development and intellectual disability. Herein, we report the case of a newborn male patient with a novel de novo pathogenic variant in the Guanine Nucleotide-Binding Protein, Alpha Stimulating (GNAS) gene, which was identified by whole-exome sequencing. Our patient suffered from a large open spinal dysraphism which was treated surgically immediately after birth. During the follow-up, facial dysmorphism, bladder and bowel incontinence, and mildly delayed motor and speech development were observed. Congenital central nervous system disorders were also confirmed radiologically. In this case report, we present our diagnostic and treatment approaches to this patient. To our knowledge, this is the first reported case of Gabriele-de Vries syndrome presenting with spinal dysraphism. Extensive genetic evaluation is the cornerstone in treatment of patients with suspected Gabriele-de Vries syndrome. However, in cases with potentially life-threatening conditions, surgery should be strongly considered.
| S-EPMC10136706 | biostudies-literature
Project description:IntroductionNeuropathic pain is a common complication of spinal cord injury (SCI), and is notoriously difficult to adequately treat. Gunshot wounds (GSW) near the spinal cord may cause intractable chronic pain through spinal/nerve root transection, or reactive tissue formation resulting in nerve root compression from retained bullet fragments (RBF).Case presentationThis case report describes a 30-year-old man with a T12 AIS B incomplete spinal cord injury with paraplegia secondary to multiple GSW who presented with severe bilateral lower extremity dysesthesias and muscle spasms. Symptoms failed to improve with oral antispasmodic medications. After being diagnosed with Complex regional pain syndrome (CRPS) type I secondary to an SCI via GSW, he underwent a spinal cord stimulator (SCS) trial, which improved his symptoms by greater than 80%.DiscussionNeuropathic pain refractory to conservative treatment may benefit from SCS. Effects of therapy go beyond gate-theory in SCI patients, and may benefit patients at the cellular and molecular level. Our case demonstrates the effectiveness of SCS treatment in a patient who developed CRPS type 1 after GSW resulting in SCI.
| S-EPMC9478097 | biostudies-literature
Project description:More than 230 years after the characteristic clinical features of tuberculosis spondylitis were first described, this serious infection can still present diagnostic dilemmas in clinical practice. Atypical presentations of spinal tuberculosis mimicking malignancy have been described. We report a 50-year-old woman with abdominal pain as a presenting symptom of lumbar spinal tuberculosis. She presented with chronic intermittent abdominal pain of 6 months' duration, without low-grade fever and weight loss. There were no bowel/bladder complaints, vomiting, or worm infestation. Magnetic resonance imaging of the lumbar spine showed the L3, L4, and L5 vertebrae bodies had been destroyed and disease had invaded the lumbar spinal canal. There was a giant abscess in the right musculus psoas major. The C-reactive protein level was 130 g/L, and the erythrocyte sedimentation rate was 165 mm/h. A diagnosis of lumbar spinal tuberculosis with abdominal pain was made. After 3 weeks of antituberculosis treatment, an operation was performed to debride the necrotic tissues and reconstruct the L3 vertebrae through an anterior approach combined with a posterior approach to establish the spine stability. On 6-month follow-up, the patient had recovered from the operation and had no focal neurologic deficit.
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Project description:Study Design Case report. Objective Myeloid sarcoma (also known as chloroma) is a rare, extramedullary tumor composed of immature granulocytic cells. It may occur early in the course of acute or chronic leukemia or myeloproliferative disorders. Spinal cord invasion by myeloid sarcoma is rare. The authors report a rare case of spinal myeloid sarcoma presenting as cervical radiculopathy. Methods A previously healthy 43-year-old man presented with progressive neck, right shoulder, and arm pain. Cervical magnetic resonance imaging (MRI) revealed a very large enhancing extradural soft tissue mass extending from C7 through T1, with severe narrowing of the thecal sac at the T1 level. The patient underwent posterior cervical open biopsy, laminectomy, and decompression. Histologic examination of the surgical specimen confirmed the diagnosis of myeloid sarcoma. Postoperatively, a bone marrow biopsy was done, which showed myeloproliferative neoplasm with eosinophilia. The patient then received systemic chemotherapy and radiotherapy. Results At the 10-month follow-up, the patient reported complete relief of arm pain and neck pain. X-rays showed that the overall cervical alignment was intact and there was no evidence of a recurrent lesion. MRI showed no evidence of compressive or remnant lesion. Conclusions Spinal myeloid sarcoma presenting as cervical radiculopathy is rare, and it may be easily misdiagnosed. Knowledge of its clinical presentation, imaging, and histologic characterization can lead to early diagnosis and appropriate treatment.
| S-EPMC4472287 | biostudies-other
Project description:A 24-year-old woman who wished to become pregnant presented to our hospital with an enlarged ovarian endometrioma and developmental abnormality of the uterus. Robert's uterus complicated by hematosalpinx, ovarian endometrioma, and endometriosis were finally identified 1 year after previously being diagnosed with a cyst and uterine abnormality at a local hospital. The function of the salpinx and the pelvic environment were damaged because of the delayed diagnosis and operation. Gynecologists and sonologists should be aware of and alert to this rare entity while evaluating and managing cases of uterine abnormalities and endometriosis. Prompt early diagnosis and proper management of Robert's uterus are important for avoiding future morbidity because these are major factors in protecting fertility.
| S-EPMC7995457 | biostudies-literature
Project description:Accurate diagnoses are crucial in determining the most effective treatment across different cancers. In challenging cases, morphology-based traditional pathology methods have important limitations, while molecular profiling can provide valuable information to guide clinical decisions. We present a 35-year female with lung cancer with choriocarcinoma features. Her disease involved the right lower lung, brain, and thoracic lymph nodes. The pathology from brain metastasis was reported as “metastatic choriocarcinoma” (a germ cell tumor) by local pathologists. She initiated carboplatin and etoposide, a regimen for choriocarcinoma. Subsequently, her case was assessed by pathologists from an academic cancer center, who gave the diagnosis of “adenocarcinoma with aberrant expression of β-hCG” and finally pathologists at our hospital, who gave the diagnosis of “poorly differentiated carcinoma with choriocarcinoma features”. Genomic profiling detected a KRAS G13R mutation and transcriptomics profiling was suggestive of lung origin. The patient was treated with carboplatin/paclitaxel/ipilimumab/nivolumab followed by consolidation radiation therapy. She had no evidence of progression to date, 13 months after the initial presentation. The molecular profiling could facilitate diagnosing of challenging cancer cases. In addition, chemoimmunotherapy and local consolidation radiation therapy may provide promising therapeutic options for patients with lung cancer exhibiting choriocarcinoma features.
2024-03-14 | GSE261551 | GEO
Project description:IntroductionSpinal hemangiomas are benign vascular tumors that most commonly originate from the osseous structures of the spinal column. Epidural spinal hemangiomas without osseous involvement are uncommon and are classified as pure epidural spinal hemangiomas. Extraosseous spinal epidural cavernous hemangiomas are rarely described and among available reports; most patients present with slowly progressive neurological symptoms. Herein, we present a novel case of acute neurological dysfunction from a pure spinal epidural hemangioma that was managed through surgical resection with good neurological recovery at follow-up.Case presentationA 45-year-old previously healthy man presented to the emergency room with sudden inability to ambulate and was found to have bilateral lower extremity weakness. Magnetic resonance imaging of the spine demonstrated an epidural mass extending out of the right T5/6 neural foramen. The mass enhanced heterogeneously, and the preoperative diagnosis favored an atypical schwannoma. The lesion was surgically removed en-bloc through a midline posterior decompression with instrumentation. Histopathologic examination confirmed cavernous hemangioma pathology. Within 6 weeks of the surgical intervention, the patient had regained full sensorimotor function and these effects were durable through long term follow-up.DiscussionPure spinal epidural hemangiomas are rare and generally have an insidious clinical course. This case report highlights that these uncommon lesions may present with substantial and acute neurological dysfunction requiring urgent neurosurgical intervention. This should prompt clinicians to consider cavernous hemangioma in the differential diagnosis of patients presenting with acute neurological deterioration and an epidural spinal tumor.
| S-EPMC9247050 | biostudies-literature
Project description:BackgroundVenous thrombo-embolic events have been described in hospitalized patients with coronavirus disease 2019 (COVID-19), suggesting the presence of coagulopathy induced by the viral infection. To date, only rare cases of arterial thrombosis related to COVID-19 have been reported.Case summaryA 54-year-old patient with an influenza-like illness 15 days earlier, which resolved, and no known cardiovascular risk factor presented with acute right lower limb ischaemia. A computed tomography angiogram of the abdominal aorta and lower extremities showed, in the absence of vascular disease, a subocclusive thrombosis of the right common iliac artery and an occlusion of the right internal iliac, profunda femoral, and popliteal arteries. On the left side, the computed tomography angiogram demonstrated a non-occlusive thrombosis of the common femoral artery. The patient underwent emergency surgical thrombectomy as well as endovascular revascularization on the right side followed by therapeutic anticoagulation, with normalization of the limb perfusion. A nasopharyngeal swab for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) by real-time reverse transcription-PCR (rRT-PCR) was negative three times. Haemostasis analysis showed a mild hyperfibrinogenaemia and a shortening of the activated partial thromboplastin time. An extensive screening for cardio-embolism was negative. As the thrombotic event was unexplained, antibody testing for SARS-CoV-2 was performed and the result was positive.DiscussionVenous thrombosis and pulmonary embolisms have been observed in COVID-19. As in our case, the first reports on COVID-19-associated arterial thrombotic events have emerged. A better understanding of the coagulopathy in COVID-19 is essential to guide prevention and treatment of venous as well as arterial thrombo-embolic events.
| S-EPMC7717202 | biostudies-literature
Project description:Although spinal cord injuries are frequent causes of myelopathy in young patients, stab wounds of the spinal cord rarely occur and are typically maximal symptomatic immediately after the trauma.A 31-year-old male developed delayed onset of symptoms 4 years after a stab wound to the cervical spinal cord attributed to a plant needle (plant called Mandacaru). Following removal of the foreign body and decompression/excision of scarring at the C34 level, the patient's symptoms resolved.Surgical excision should be encouraged to remove chronic penetrating foreign bodies to both decompress and untether the spinal cord.
| S-EPMC5523475 | biostudies-other
Project description:IntroductionMalignant lymphoma (ML) can involve the central nervous system either primarily or by secondary spread, which tends to occur late in the disease as part of widespread dissemination. Lymphoma presenting as primary tumors of the spinal cord is extremely uncommon. Primary spinal lymphoma if detected early can have a good prognosis with no relapse after effective treatment.Case presentationA 32 years old male patient presented with the symptoms of impending cauda equina syndrome which was managed with surgery and chemotherapy. The patient was successfully treated without the relapse of his condition at his 6 months follow-up scan.Discussion: Primary spinal non-Hodgkin lymphoma is a rare entity among extranodal non-Hodgkin lymphoma. MRI is usually non-confirmatory and needs immunohistochemistry for the correct diagnosis. R-CHOP regimen is the standard chemotherapy regimen. Surgical decompression is required in cases of impending neurological injury along with radiotherapy.ConclusionPrimary spinal epidural diffuse large B-cell lymphoma should be considered as a differential diagnosis in patients presenting with back pain and symptoms of impending cauda equina syndrome. It is important to early detect and treat the disease to prevent permanent neurological injury and metastasis.
| S-EPMC9661642 | biostudies-literature