Missed tuberous sclerosis complex with multi-system complications in a single patient.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by widespread clinical manifestations. Early diagnosis is usually possible when typical TSC related skin lesions and neurologic presentations are detected in young patients. Undiagnosed TSC patients are at increased risk of morbidity and mortality as disease progression will inevitably lead to complications. While case reports of single complications in pediatric patients have been documented, to the best of our knowledge, multi-system complications of TSC in adults have yet to be reported in the literature. We present a case of tuberous sclerosis diagnosed in adulthood with complications involving the central nervous, renal and respiratory systems. This case highlights the need for a multidisciplinary approach in the management of TSC as well as the role of imaging in both diagnosis and intervention.

Case Report: Unusual High-Grade Diffuse Leptomeningeal Glioneuronal Tumor Mimicking Tuberculous Meningitis in a Child From an Endemic Region.

Background: Diffuse leptomeningeal glioneuronal tumor (DL-GNT) is a new entity described in the 2016 World Health Organization (WHO) classification of brain tumors. While DL-GNT is predominantly an indolent tumor that affects young boys, high-grade DL-GNT is unusual and seldom reported in children. Case Presentation: In this report, we describe the challenges and pitfalls associated with diagnosing this high-grade variant in a tuberculosis-endemic region. We highlight the importance of identifying non-typical imaging findings, i.e., non-enhancing cystic lesions with high T2 signal along the leptomeningeal surface, that may expedite the diagnosis of this condition. Histopathologic correlations with MR spectroscopy findings are also discussed. Conclusion: We provide the first clinical imaging report of utilizing MR spectroscopy to distinguish DL-GNT from tuberculosis with histopathologic correlation.

Congenital colorectal tubular duplication in an infant: A tale of radiological diagnostic challenges.

Enteric duplications (EDs) are rare congenital anomalies that result from defect during embryonic development of the gut. Although EDs can literally occur at any part of the gastrointestinal tract, ileocecal duplication is the commonest type followed by colorectal type. Morphologically, EDs are mostly cystic in nature; tubular duplications are uncommon. We report radiological diagnostic challenges encountered in dealing with a 10 month-old infant who presented with chronic constipation, progressive abdominal distension, and voiding difficulty for several weeks followed by colicky abdominal pain for three days. After a series of radiological procedures, a diagnosis of tubular colorectal duplication was made. The duplicated segment was loaded with impacted feces which exerted pressure effect on the rectum and urinary bladder. The case was treated surgically through laparoscopic procedure that included fenestration and stapling of the duplicated bowel followed by irrigation. Postoperatively, the child was followed up half-yearly for three years and was found to remain symptom-free. This case exemplifies the challenges a radiologist may experience while dealing with a case presenting with features of as acute-on-chronic intestinal obstruction and voiding difficulty.

MR imaging of hypothalamic hamartoma in a patient with gelastic seizures.

Hypothalamic hamartomas (HHs) are non-neoplastic malformations that occur in the region of the hypothalamus. HH is the leading cause of gelastic seizures in children and adolescents, where laughing is characteristically manifested. However, these patients can also experience different forms of complex or generalized tonic-clonic seizures that can obscure the diagnosis of HHs. We present a case of a 10 year-old boy that experienced several seizure types, but was subsequently diagnosed with HH after MR imaging was performed. This case highlights the complementary role of MR imaging in ascertaining seizure etiololgy when the clinical history and EEG findings are non-specific. The importance of early diagnosis with MR imaging is further underscored by the fact that patients diagnosed with HH usually develop drug resistance towards antiepileptic drugs, mandating neurosurgical assessment and intervention.

Wilms tumor presenting as small bowel obstruction in a neonate: A diagnostic challenge.

Wilms tumor is the most common primary malignant renal tumor of childhood which usually presents between 2 and 6 years of age. Its presentation in the neonatal period is extremely rare and presenting with intestinal obstruction is perhaps unknown. We report a 2-day-old baby girl who manifested features of acute upper gastrointestinal obstruction with frequent post-feeding vomiting and abdominal distension. The initial abdominal radiograph showed abnormally displayed small bowel loops to the right hemiabdomen. Subsequent ultrasound and computed tomography scan of the abdomen detected a massive left renal mass. Left-sided nephrectomy was performed, and histopathology demonstrated left-sided Wilms tumor with favorable histology. Post-treatment yearly follow-up for 5 years recorded a disease-free, normally thriving child.

Rare late-presentation congenital diaphragmatic hernia mimicking a tension pneumothorax.

Congenital Diaphragmatic Hernia (CDH) is due to a defect in the diaphragm and is usually detected soon after birth. However, in rare cases, asymptomatic CDHs can be missed and present later in life. Late-presentation CDH can be misdiagnosed as tension pneumothorax leading to iatrogenic complications. We report a case of a 10-year-old boy who presented with non-specific symptoms of vomiting and occasional breathlessness, but was subsequently diagnosed as late-presentation CDH. This case highlights the role of imaging in the diagnosis and management of late-presenting CDH. The role of CT imaging as an invaluable tool to further evaluate equivocal radiographic findings in CDH is discussed.

Asymptomatic complete distal abdominal aortic occlusion with initial presentation of ruptured intracranial aneurysm.

Aortoilliac occlusive disease is occlusive atherosclerosis disease involving the distal aorta and bifurcation of iliac arteries and it is a subtype of peripheral arterial disease. Total occlusion of the abdominal aorta is a rare occurrence with an incidence of 3% -8.5% among the aortoiliac occlusive disease patients. We present a case of a 53 years old patient with a background history of hypertension and ex intravenous drug abuser with negative retroviral screening status, with no previous complaints who was brought to the Emergency Department with sudden onset of altered sensorium and 1 episode of seizure. Computed tomography angiogram of the brain showed a ruptured anterior communicating artery aneurysm. Diagnostic conventional angiogram of the brain was planned; however, difficulty was encountered during bilateral femoral artery cannulation with the abrupt termination of bilateral common iliac arteries. Computed tomography angiogram of the abdomen showed incidental finding of total occlusion of the abdominal aorta. As a conclusion, total occlusion of abdominal aorta secondary to aortoiliac occlusive disease with an associated intracranial aneurysm is never reported in the literature to date. This case highlights the possibility of association in between these two conditions which may benefit from further research.

Skull Base Primary Ewing Sarcoma: A Radiological Experience of a Rare Disease in an Atypical Location.

BACKGROUND Ewing sarcoma and primitive neuroectodermal tumor are rare tumors grouped under the spectrum of the Ewing sarcoma family of tumors. These highly malignant tumors involve the bones and commonly occur in children. Ewing sarcoma of the skull bone accounts for only 1% of all Ewing sarcomas, with primary skull base Ewing sarcoma occurring in less than 1% of cases. We present a case of skull base Ewing sarcoma with complete symptom recovery and near-total radiological resolution. CASE REPORT A 4-year-old girl initially presented with a 2-month history of vomiting, poor oral intake, weight loss, and gradual visual deterioration followed by acute symptoms of fever, breathing difficulties, and seizure. Initial computed tomography and magnetic resonance imaging of the brain displayed a large sinonasal mass with extensive regional infiltration and bony destruction and no evidence of distant metastasis. A transnasal biopsy was taken. The histopathology result revealed features of skull base Ewing sarcoma. The child was given a combination of radiotherapy and chemotherapy, to which she responded well, with a minimal residual tumor. CONCLUSIONS Skull base Ewing sarcoma is a rare entity, presenting a challenge to the reporting radiologists. Differential diagnoses of esthesioneuroblastoma, olfactory neuroepithelioma, and, more commonly, sinonasal carcinoma can be misleading since they have similar radiological appearances to skull base Ewing sarcoma, which differs in treatment regimen and prognosis. Therefore, a combination of histopathological appearance, radiographic findings, and clinical correlation is important to determine the correct diagnosis, establish the appropriate treatment regime, and improve the patient's survival.

Empyema thoracis presented as giant back abscess.

Empyema thoracis (ET) is defined as pus in the pleural space, either localized or involving the entire pleural cavity, due to diverse etiologies. In severe form, it may infiltrate the extrapulmonary region. Clinical guideline describes 3 stages of parapneumonic effusion before developing into an ET, namely the exudative stage, the fibrinopurulent stage, and the organizing/late stage. We highlight a 59-year-old gentleman who presented a back swelling masquerading as a deep-seated abscess, in which the diagnosis of ET had not been established early. The principles of treatment are treating the underlying condition such as pneumonia, pleural drainage and debridement, full re-expansion of the collapsed lung by performing chest physiotherapy, and improving nutrition. ET is a condition with a dynamic process due to diverse etiologies, either localized or involving the entire pleural cavity. The gold standard in diagnosing ET is the pleural aspiration of fluid from the pleural space, whereas the management of ET may include non-surgical and/or surgical treatments based on the basic principles of ET treatment.

Case report: Ballotable abdominal mass in a child - Definitely renal in origin?

INTRODUCTION AND IMPORTANCE: The differential diagnosis of a paediatric abdominal mass can be extensive, as it potentially involves multiple organs including gastrointestinal, genitourinary, endocrine, and gynaecological systems. Hence, a systematic approach to history taking and physical examination is needed to clinch the diagnosis. Specifically, the approach for assessing, investigating, and managing a ballotable left hypochondrial mass in a child can be challenging. CASE PRESENTATION: We report a 10-year-old Dusun girl presenting with left hypochondrial pain and noted a left hypochondrial mass on examination. This report highlights the role of clinical imaging during the pre-operative and post-operative phases. CLINICAL DISCUSSION: Ultrasound and CT imaging was useful in determining that the tumor originated from the tail of the pancreas. The presence of a definite capsule with internal solid-cystic components helped narrowed the differential diagnosis to solid pseudopapillary neoplasm (SPN) of the pancreas. MR liver was useful to rule out liver metastasis in this child. INTERVENTION AND OUTCOME: The patient was scheduled for laparotomy and tumour excision at a regional paediatric centre. Successful excision of the tumor en-mass was performed and the child's subsequent recovery was uneventful. CONCLUSION: Clinical imaging plays a critical role in the diagnosis and management of paediatric solid organ tumours. Other than renal origin, suspicion of pancreatic tail origin should be considered by clinicians when encountering a ballotable left abdominal mass.

Emphysematous gastritis after metastatic malignant melanoma: a radiological surprise.

Malignant melanoma is cancer of the skin which commonly metastasises to the stomach. There have been no reported cases of emphysematous gastritis secondary to metastasis of malignant melanomas, to date. However, a 61-year-old woman with metastatic malignant melanoma of the left great toe presented to us with symptoms of severe left hypochondrium pain associated with high-grade fever, gross abdominal distension and recurrent vomiting. Two months earlier, metastasis was observed to have spread to the stomach and inguinal lymph nodes. At this stage, the patient opted for traditional medication instead of definitive surgery and chemotherapy. Radiological imaging revealed an emphysematous change to the stomach which was radiologically consistent with gastric malignant melanoma. Unfortunately, the patient succumbed to this rare condition.

Giant submandibular sialolipoma masquerading as huge goitre: a case report.

BACKGROUND: Sialolipoma is a rare tumour which may arise from both major and minor salivary glands and has recently been described as a variant of salivary gland lipomatous lesions. CASE PRESENTATION: We report a 54-year-old male who presented with a 7-year history of large right anterior neck swelling. He was clinically euthyroid and had no compressive or infiltrative symptoms. He sought medical attention due to the discomfort exerted by the weight of the mass and was keen for excision. The swelling appeared like a goitre but physical examination proved otherwise. Imaging was suggestive of a benign tumour arising from the right parapharyngeal fossa. The mass was surgically excised and was noted to be adherent to part of the submandibular gland. Histopathological examination revealed a new variant of benign adipocytic tumour of salivary gland or sialolipoma arising from the submandibular gland. Besides being the largest sialolipoma to be reported, there are also no reports of giant submandibular sialolipomas masquerading as a huge goitre in appearance. CONCLUSION: Submandibular sialolipomas can present in really large sizes and appear as a giant goitre. It is important to differentiate between benign lipomas from liposarcomas and tailor the management accordingly. Surgical enucleation is the preferred choice of treatment for these benign tumours with low recurrence rates.