Characteristic Radiological Appearance Research Articles

MENINGIOMA-06 CYSTIC MENINGIOMA CASE STUDY AND LITERATURE REVIEW

Abstract BACKGROUND Intracranial meningiomas are generally solid tumors with a characteristic radiological appearance. The incidence of cystic meningioma is very low. withe an estimated frequency of 1.6 to 11.7%. It is often misinterpreted on radiological only the anatomopathological exams study can confirm the diagnosis. We report an unusual case of cystic meningioma through which we discuss pathogenic, clinical, radiological and therapeutic characteristics. CASE The patient is a 46 years old woman, with left parieto-occipital headaches for three months with recent appearance of right hemiparesis. The brain scan showed a lesion occupying the left posterior cystic parietal space with a solid nodule and perilesional edema, and enhancement of the solid component and cystic wall. The patient was operated using a left posterioparietal approach.The intraoperative appearance was that of a well defined encapsulated lesion attached to the dura mater, whitish in colour with a cystic part containing xanthochromic liquid and a solid nodule. The tumor is completely extra-axial with a plane of cleavage relative to the peritumoral cortical surface having facilitated its complete excision. Histological examination of the resected confirmed the diagnosis of cystic meningioma. There was no recurrence after 20 months of follow up. CONCLUSION Cystic meningioma is a rare entity. The diagnosis is often difficult to make preoperatively. Dural tail is a specific radiological sign, but not enough to evoke the diagnosis of meningioma with total precision. The surgical excision must be complete especially before signs of contrast of the cystic wall, in order to avoid a possible recurrence or anaplastic transformation.

The Greater Superficial Petrosal Nerve Schwannoma: A Brief Report

AbstractSchwannoma of greater superficial petrosal nerve (GSPNS) is a rare tumor of middle cranial fossa. We report a case of GSPNS presenting with twitching of face and eyelid. We describe its characteristic radiological appearance. Total excision of the GSPNS was done through a subtemporal approach with complete relief of symptoms. GSPNS is a rare tumor of middle cranial fossa. Preoperative diagnosis may be misleading. A high index of suspicion is important to make a correct diagnosis and choose an appropriate approach for surgery as it is amenable to complete excision.

Bizarre parosteal osteochondromatous proliferation or Nora’s lesion affecting the extremities: A concise update

The bizarre parosteal osteochondromatous proliferation or Nora’s lesion is an unusual clinical entity that presents with localized swelling and pain. The characteristic radiological appearance includes a cluster of variably calcified lesions adjacent to a particular bone. However, it does not necessarily have direct continuity with its medullary region. The etiopathogenesis of this disorder is not yet fully understood. Various other lesions require careful exclusion and the use of advanced imaging modalities to supplement the diagnosis. The final diagnosis of the lesion, however, is based on the histopathological basis. However, these lesions are reported as sporadic reports or small series in the literature and are also discovered in areas other than the common locations in hands and feet. The recent research aims to throw more advanced knowledge into their causation, including genetic etiology. The symptomatic lesions may require excision for clinical relief, but recurrence is not uncommon. The future research, and preferably multi-center collaboration, is required for more insight into their comprehensive nature and clinical spectrum. A brief and crisp update of the articles published in the past 10 years describing bizarre parosteal oseochondromatous proliferation in the extremities is presented here for educational purposes for orthopedists and generalists alike.

Benign or Malignant lesion?

Chest radiology is an important investigation in the diagnosis of intrathoracic lesions. Benign and malignant lesions have characteristic radiological appearance. Awareness about these characteristics is essential for further evaluation and diagnosis. Keywords: Chest radiology feature of benign lesion, Chest radiology feature of malignant lesion, Posterior mediastinal tumor

First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations

Desbuquois dysplasia type 1 (DBQD1) is a very rare skeletal dysplasia characterized by growth retardation, short stature, distinct hand features, and a characteristic radiological monkey wrench appearance at the proximal femur. We report on 2unrelated Egyptian patients having the characteristic features of DBQD1 with different expressivity. Patient 1 presented at the age of 45 days with respiratory distress, short limbs, faltering growth, and distinctive facies while patient 2 presented at 5 years of age with short stature and hypospadias. The 2 patients shared radiological features suggestive of DBQD1. Whole-exome sequencing revealed a homozygous frameshift mutation in the CANT1 gene (NM_001159772.1:c.277_278delCT; p.Leu93ValfsTer89) in patient 1 and a homozygous missense mutation (NM_138793.4:c.898C>T; p.Arg300Cys) in patient 2. Phenotypic variability and variable expressivity of DBQD was evident in our patients. Hypoplastic scrotum and hypospadias were additional unreported associated findings, thus expanding the phenotypic spectrum of the disorder. We reviewed the main features of skeletal dysplasias exhibiting similar radiological manifestations for differential diagnosis. We suggest that the variable severity in both patients could be due to the nature of the CANT1 gene mutations which necessitates the molecular study of more cases for phenotype-genotype correlations.

EWSR1(22q12) Translocation Positive Pediatric Adrenal Tumor with Loss of 1p, 11q, and Unbalanced Gain of 17q: Neuroblastoma or Ewing Sarcoma?

Background Although neuroblastoma and Ewing sarcoma/Primitive neuroectodermal tumor are different clinical entities, they are both a member of small round blue cell tumors and can mimic each other’s behavior in clinical and molecular aspects. Case report: A 3 year-old girl with an abdominal mass was found to have a small round blue cell tumor originating from the right adrenal gland. High level of neuron specific enolase, initial genetic test results (N-Myc amplification: negative, loss of 1p, 11q, and unbalanced gain of 17q) and characteristic radiological appearance of the tumor suggested a preliminary diagnosis of neuroblastoma but further analysis showed CD99 expression and presence of EWSR1 rearrangement, which are mostly observed in Ewing sarcoma. Conclusion: Adrenal gland tumors of childhood with complex immunophenotypic features requires distinguishing two discrete tumors in the small round blue cell tumor group, neuroblastoma and Ewing sarcoma. Although no exact diagnosis of the tumor was made, we reached a good response with neuroblastoma treatment protocol.

Paediatric Embryonal Tumours in Multilayered Rosettes Presenting as a Low Grade Glioma- An Unusual Case Report

Paediatric Embryonal Tumours in Multilayered Rosettes (ETMR) are rare aggressive tumours with poor survival statistics, defined in 2016 by World Health Organisation (WHO) classification of brain tumours. The tumours have a characteristic radiological appearance on Magnetic Resonance Imaging (MRI) of the brain, which is easily decipherable. This combined with a clinical picture of raised intracranial pressure symptoms, seizures and rapidly progressive new onset neurological deficits make the diagnosis fairly obvious. The final confirmation of the diagnosis is done by immunohistochemical analysis of the C19Myc gene alteration. Rarely, certain radiological presentations are uncharacteristic and resemble other more benign pathologies with overlapping clinical presentations. This can be misleading, as ETMRs require aggressive surgery followed by adjuvant chemotherapy and radiation to ensure best possible survival. We present such a case report of what appeared to be a low-grade glioma in the frontal lobe. This tumour presented with one episode of generalised tonic clonic seizures not unusual as a presenting complaint in low-grade gliomas per se. Surgical debulking under ultrasonic guidance was done and the specimen was sent to histopathological analysis. The histopathological analysis showed a surprise ETMR diagnosis which was sent for confirmation to two other centers. This case report highlights the need to keep ETMRs as a rare differential diagnosis for even low-grade gliomas of the brain, thereby allowing accurate prognostication only after histopathological and immunohistochemical assessment. We present a brief literature review on unusual presentations of ETMRs reported in literature to further illustrate the chimeric nature of this rare disease.

Management of mature pineal region teratomas in pediatric age group.

Mature pineal region teratomas differ from other pineal tumors in terms of their characteristic radiological appearance and their clinical outcome after gross total excision. Our aim is to share our clinical experience and treatment outcomes in pediatric patients with mature pineal region teratoma. In this retrospective study, we reviewed clinical, radiological, and surgical data of ten patients who had radiologically predicted diagnosis of pineal region teratoma and pathologically confirmed diagnosis of mature pineal region teratoma between years 2004 and 2017 in our clinic. Statistical analysis was performed with SPSS 20. All patients were male. Ages of patients ranged between 5 and 17 (median age was 9.5). All of them presented with headache. Magnetic resonance imaging showed characteristic appearance of teratomas with variable degree of hydrocephalus. All patients had negative results for AFP and b-HCG levels. All patients had gross total resection of pineal tumor through occipital transtentorial approach with no permanent neurological deficit. Pathological results of all tumor samples were consistent with mature teratoma. None of them had adjuvant chemotherapy or radiotherapy. Follow-up periods ranged between 3 and 170months (median follow-up period was 60.5months). All patients are alive with no tumor recurrence. Pediatric mature pineal region teratomas are benign tumors with characteristic MRI appearance and negative tumor markers. Their definitive treatment is gross total surgical excision. Occipital transtentorial approach is a safe procedure for treatment of pediatric mature pineal teratomas.

Spontaneous Orbital Hemorrhage Related to the Extraocular Muscles

The authors present the largest series of patients to date of spontaneous hemorrhage in relation to extraocular muscles (EOMs). Observational retrospective case series. Institutional review board approval was obtained. Eighteen patients with a mean age of 71 years presented with 20 episodes of spontaneous orbital hemorrhage closely related to an EOM. Most patients woke with unilateral proptosis, pain, and diplopia. Vision was impaired in 25%. Imaging identified a characteristic well-circumscribed hematoma arising within the muscle sheath or intermuscular septum. Three episodes required surgical drainage. All patients had good recovery of vision. The authors describe a distinct clinical entity of idiopathic hemorrhages related to EOMs. No patient had an underlying vascular malformation or other lesion. The authors demonstrate that a proportion of these patients have vascular risk factors, namely, hypertension, hyperlipidemia, and antiplatelet use. This study suggests that inferior rectus is the most commonly affected EOM and shows that it is the muscle sheath or intermuscular septum of inferior rectus that is involved, rather than the muscle belly. Most patients can be managed conservatively with good visual outcomes. However, there were 3 exceptional cases that required surgical intervention. The findings that spontaneous orbital hemorrhages related to EOMs have certain predisposing factors, a characteristic radiological appearance, and a typically benign course will be helpful for clinicians in the management of this condition.

A Diagnostic Challenge: Erdheim Chester Disorder

Erdheim-Chester disease (ECD) is a rare, multisystemic, idiopathic disease often associated with BRAF V600E mutation. Its diagnosis is typically delayed and challenging due to its variable manifestations. Although it has an indolent course, advanced stages can manifest fulminant behavior with multiple vital organ involvement. It is a class 2a, non-Langerhans cell histiocytosis with characteristic radiological appearance. Whole body imaging might be helpful, particularly, to assess skeletal lesions. Although widespread disease with typical skeletal involvement on imaging can prompt diagnosis, histopathology with immunohistochemistry is required for confirmation. The disease can also manifest itself with a large variety of central nervous system related or orbital symptoms. Cardiac involvement is quite common. We present an interesting image of a patient with ECD who underwent PET/CT. Informed consent of the subject described in this image is waived by the Institutional Review Board.

Classical Imaging in Callosal Agenesis.

Corpus callosal agenesis results in certain characteristic radiological appearances on magnetic resonance imaging. These classical named signs are revisited in this article.

Mesenteric Fibrosis in Midgut Neuroendocrine Tumors: Functionality and Radiological Features

Background: Mesenteric fibrosis (MF) surrounding a lymph node metastasis is a known phenomenon in midgut neuroendocrine tumors (NETs) with characteristic radiological appearance. Its etiology is poorly understood as it affects some but not all midgut NET patients with lymphatic involvement. This study assessed a potential relationship of MF with carcinoid syndrome, urinary 5-hydroxyindoleacetic acid (5-HIAA), and carcinoid heart disease (CHD). Methods: A cohort of 81 patients with pathologically proven NETs with the primary site in the midgut and mesenteric lymphatic metastases on imaging were retrospectively included. Imaging characteristics of lymphatic and hepatic metastases at diagnosis (size, number, burden, and morphologic features, including presence of MF), Ki67 grading, 5-HIAA, functionality, and development of CHD were analyzed. Results: Overall, 54% of patients had MF. The presence of MF was more frequently associated with mesenteric vessel encasement (100 vs. 46% without MF; p < 0.001), presence of hepatic metastases (91 vs. 62%; p = 0.002), larger hepatic tumor burden (15 vs. 5%; p = 0.001), and functionality (86 vs. 43%; p < 0.001). Multivariate analysis revealed 5-HIAA ≥395 µmol/day (p = 0.020), age (p = 0.013), and largest lymphatic metastasis ≥24 mm (p = 0.009) as independent predictors of MF, while functionality (p = 0.098) and CHD (p = 0.070) showed a tendency towards significance. MF was associated with decreased time to development of CHD in functional midgut NETs (p = 0.043). Conclusions: We found a significant association of MF with metastatic patterns and with criteria of functionality. The association of MF with elevated 5-HIAA, and consecutively with carcinoid syndrome and potential development of CHD, suggests a linked pathophysiological mechanism, which might be similar to that of endocardial fibrosis.

Extramedullary hematopoiesis: A report of two cases

Extramedullary hematopoiesis (EMH) is defined as hematopoiesis occurring in organs outside of the bone marrow. The present report describes two cases of thalassemic patients with paraspinal medullary hematopoiesis and analyzes the clinical manifestations, imaging, pathology, diagnosis and treatment of EMH. In addition, a supplementary review of previously published cases is provided along with a review of the related literature. Computed tomography (CT) of the first case revealed multiple paraspinal masses, and the largest was 6.2×8.0 cm in diameter. Likewise, CT of the second patient revealed multiple paraspinal masses in the bottom of the left thoracic cavity, and the largest was measured 10.1×10.5 cm. The two cases underwent surgical biopsy and the findings were compatible with a diagnosis of EMH. In conclusion, EMH is a compatible and rare disease, and should be distinguished from other neoplasms. EMH must considered when masses with characteristic radiologic appearance are detected in patients with thalassemia intermedia.

Hysterosalpingography and ultrasonography findings of female genital tuberculosis.

Genital tuberculosis (TB) is an important cause of female infertility in the world, especially in developing countries. Majority of infertility cases are due to involvement of the fallopian tubes (92%-100%), endometrial cavity (50%), and ovaries (10%-30%); cervical and vulvovaginal TB are uncommon. Genital TB has characteristic radiological appearances based on the stage of the disease process (acute inflammatory or chronic fibrotic) and the organ of involvement. Hysterosalpingography (HSG) and ultrasonography (US) remain the main imaging modalities used in the diagnosis of genital TB. HSG is the primary modality for evaluating uterine, fallopian tube, and peritubal involvement and also helps in evaluating tubal patency. US, on the other hand, allows simultaneous evaluation of ovarian and extrapelvic involvement.

Partial diaphragmatic eventration and liver herniation

This case reports a 54-year-old lady with a chest X-ray showing a lung mass that was later identified to be eventration or abnormal elevation of a part of the diaphragm. This article discusses eventration of the right diaphragm and liver herniation, that although relatively rare, has characteristic radiological appearances.

Idiopathic spinal cord herniation

Idiopathic spinal cord herniation (ISCH) is a rare cause of progressive myelopathy. This condition has recently seen an increased frequency of diagnosis, possibly due to increased awareness and the use of magnetic resonance (MR) imaging. ISCH is characterised by herniation of the thoracic spinal cord through an anterior or anterolateral dural defect. Patients usually present with a Brown-Séquard-like syndrome, which is gradually progressive and may evolve into severe paraparesis. This disease has a characteristic radiological appearance, and in most cases, excellent postsurgical outcome. We report ISCH and its imaging appearance in a 31-year-old woman with classical presentation, and discuss the current concepts regarding the aetiopathogenesis, radiological features and management of the disease.

Cerebral metastasis masquerading as cerebritis: A case of misguiding history and radiological surprise!

Cerebral metastases usually have a characteristic radiological appearance. They can be differentiated rather easily from any infective etiology. Similarly, positive medical history also guides the neurosurgeon towards the possible diagnosis and adds to the diagnostic armamentarium. However, occasionally, similarities on imaging may be encountered where even history could lead us in the wrong direction and tends to bias the clinician. We report a case of a 40-year-old female with a history of mastoidectomy for otitis media presenting to us with a space occupying lesion in the right parietal region, which was thought pre-operatively as an abscess along with the cerebritis. Surprisingly, the histopathology proved it to be a metastatic adenocarcinoma. Hence, a ring enhancing lesion may be a high grade neoplasm/metastasis/abscess, significant gyral enhancement; a feature of cerebritis is not linked with a neoplastic etiology more often. This may lead to delayed diagnosis, incorrect prognostication and treatment in patients having coincidental suggestive history of infection. We review the literature and highlight the key points helping to differentiate an infective from a neoplastic pathology which may look similar at times.

Classical imaging triad in a very young child with swyer-james syndrome.

Swyer-James syndrome (SJS) or Swyer-James-MacLeod syndrome is a rare disorder characterized by roentgenographical hyperlucency of one lung, lobe, or part of a lobe. As originally described, it shows a unilateral small lung with hyperlucency and air trapping on radiographs. It is postinfectious obliterative bronchiolitis due to childhood respiratory infection. In SJS, the involved lung or portion of the lung does not grow normally. The characteristic radiologic appearance is that of pulmonary hyperlucency on chest X-ray/CT caused by over-distention of the alveoli in conjunction with diminished arterial flow detected on Tc-99m MAA pulmonary perfusion scan. Radionuclide pulmonary ventilation studies are considered difficult to perform in very young children as patient co-operation is crucial to achieve adequate tracer entry into the lungs. We present here the case of a female child aged 2years, who presented with chronic productive cough and fever off and on for 1.5years. She had classical features on imaging and markedly diminished ventilation on Tc-99m DTPA aerosol study. Our case highlights the typical findings on ventilation-perfusion scan (V/Q scan) and suggests that it is possible to conduct a satisfactory ventilation study with Tc-99m DTPA aerosol even in very young children.

Mycotic thoracoabdominal aneurysms.

Mycotic thoracoabdominal aneurysms.

Hypertrophic osteoarthropathy in a child due to thoracic Hodgkin’s disease

Keywords Hodgkins disease.Osteoartropathy.Radiographs.CTThere is periosteal reaction along the shaft of the longbones of the hand and foot, leading to the diagnosis ofhypertrophic osteoarthropathy (HPOA), associated withintrathoracic Hodgkin’s disease.DiscussionHypertrophic osteoarthropathy in children is rare and istypically considered to be a sign of pulmonary disease [1–3]. However, it may be related to a variety of inflammatoryor neoplastic disorders, including congenital heart diseases,pulmonary or cystic fibrosis, infectious airway disease,chronic liver and inflammatory bowel disease as well asvarious intrathoracic and gastrointestinal tumours [1–3].While up to 90% of HPOA cases are associated withprimary or metastatic pulmonary neoplasms in adults,intrathoracic malignant disease accounts for only 12% ofHPOA cases in children [1–3]. The presence of HPOA hasbeen regarded as a poor prognostic sign, since most of thepatients with malignancy and HPOA have showed exten-sive metastases [2]. Therefore, although HPOA is rare inchildhood cancers, its occurrence should alert physiciansfor the recurrence of disease or intrathoracic involvementduring follow-up [2–4].HPOA has a characteristic radiological appearance [1–4]. Initially, there is periosteal new bone formation forminga thin radiopaque line around the cortex and separated fromit by a radiolucent band. In our patient, this pattern isevident at both the X-rays, and the CT. Subsequently, thetwo layers gradually fuse and lead to poorly demarcated orlamellar periosteal reaction. This appearance may be easilydifferentiated from bone involvement from the Hodgkin’sdisease itself, as periosteal infiltration by lymphoma usuallyaffects the anterior surfaces of the vertebral bodies ratherthan the long bones and is always associated with corticalbone destruction [1–4].In pediatric Hodgkin’s lymphoma,