PHACE syndrome: a case report and a comprehensive review.

Introduction and importance: PHACE syndrome is a rare neurocutaneous disorder characterized by large segmental hemangiomas on the face and is associated with multiple developmental defects. PHACE stands for posterior fossa malformations, hemangiomas, arterial abnormalities, cardiac defects, and eye anomalies, with the most common manifestation being hemangioma in the cervico-facial region in early childhood. Case presentation: The authors report a case of a 15-year-female with complaints of facial hemangioma which on multisystemic imaging showed features of central nervous system (CNS) anomalies that led to the diagnosis of PHACE syndrome. The patient was started on propanolol which decreased the size of hemangioma in follow-up visits. Clinical discussion: The hemangioma in the frontotemporal and frontonasal area of the face are associated more with CNS and cardiovascular anomalies needing a detailed multisystem approach. CNS anomalies include posterior cerebral fossa enlargement, cystic dilation of the fourth ventricle, arachnoid cyst, and cerebellar hypoplasia which were present in our case. Propanolol is considered the first-line drug for facial hemangioma with reported evidence of remarkable improvement and good tolerance. However, regular follow-up of the patient is needed to rule out any recurrence. Conclusion: PHACE syndrome, although being a rare occurrence, must be kept as a differential diagnosis in infants and children with facial hemangioma. Imaging modalities like MRI/magnetic resonance arteriography must be used to rule out possible associations related to PHACE syndrome and focus on early treatment to prevent possible complications.

Cerebrofacial arteriovenous metameric syndrome type I + II + III: An unusual case.

Cerebrofacial arteriovenous Metameric syndrome (CAMS) typically manifests as types I, II, or III, occasionally presenting as dual types. Our unique case underscores the coexistence of all three CAMS types in one patient. Furthermore, the concurrent acute cerebellar infarct underscores the need to consider CAMS in the differential diagnosis of adolescents experiencing neurological events.

Moyamoya disease in an adolescent with subarachnoid hemorrhage: a case report.

PURPOSE/AIM OF THE STUDY: This study aims to present a case of Moyamoya disease (MMD) in an adolescent who experienced a subarachnoid hemorrhage (SAH). The purpose is to underscore the importance of considering MMD as a potential cause of SAH in adolescents, particularly in the absence of common causes such as trauma or aneurysmal rupture. The case further highlights the significance of early identification and appropriate management to prevent further complications and improve patient outcomes. MATERIALS AND METHODS: The diagnosis was initially based on findings from a CT angiography and later confirmed through magnetic resonance angiography (MRA) and magnetic resonance imaging (MRI). RESULTS: The case study demonstrates the effectiveness of utilizing MRA and MRI in diagnosing MMD in adolescents. It emphasizes the challenges in areas with limited resources where advanced imaging techniques like digital subtraction angiography (DSA) may not be readily accessible or affordable. The gold standard for MMD diagnosis, DSA, is acknowledged, but the study underscores the importance of alternative imaging methods in resource-constrained settings. CONCLUSION: In conclusion, this case underscores the importance of considering Moyamoya disease as a potential etiology for subarachnoid hemorrhage in adolescents, particularly when common causes are absent. The study highlights the crucial role of MRA and MRI in the diagnosis of MMD, emphasizing their significance in areas with limited resources. Early identification and appropriate management are essential for preventing complications and improving patient outcomes, acknowledging the challenges associated with the accessibility of gold standard diagnostic techniques in certain settings.

Carbon monoxide poisoning with an atypical presentation on MRI: Case report and literature review.

Introduction: Acute carbon monoxide poisoning can present with altered mentation, loss of consciousness, and other symptoms. Accurate diagnosis is based on a detailed history, clinical examination, and laboratory evidence. MRI is also crucial in detecting hypoxic-ischemic encephalopathy due to CO poisoning and has established superiority over CT scans. We report an atypical MR imaging pattern seen in a patient post-CO exposure. Case presentation: We report a case of a 35-year-old South Asian man who presented to the emergency department with loss of consciousness for an undetermined time. GCS on arrival was 4/15. Detailed history, physical examination, and radiological investigations confirmed the diagnosis of carbon monoxide poisoning. He was treated with 100% oxygen. Conclusion: MRI should be included as a diagnostic workup for suspected CO poisoning patients to evaluate hypoxic-ischemic encephalopathy. This will not only aid in the correct diagnosis but will also help in guiding the correct management of the patients.

A Rare Case of Diffuse Neurofibroma of the Scalp With Destructive Lesions Involving the Base of the Skull in a Patient With Neurofibromatosis Type 1.

Diffuse neurofibroma is a benign tumor of peripheral nerves. Ten percent of neurofibromatosis type 1 (NF-1) patients can develop diffuse neurofibroma. Here, we report a case of diffuse neurofibroma involving the base of the skull in a 50-years-old patient with NF-1. The patient presented with diffuse involvement of the scalp with soft and mobile masses. Radiological investigations revealed skull bone lesions. Aggressive osteolytic lesions involving the base of the skull were present. Surgical excision with the repairing of the defects was suggested but the patient refused the treatment. The diagnosis of calvarial defects in diffuse neurofibroma is challenging. Early diagnosis can help in better management of the patients.

A Rare Case of Non-Gestational Metastatic Ovarian Choriocarcinoma: Case Report and Literature Review With a Special Emphasis on Imaging.

Non-gestational choriocarcinoma of the ovary is a very rare neoplasm. It carries a worse prognosis as compared to gestational choriocarcinoma (GCC). Here, we report a case of non-gestational ovarian choriocarcinoma. The patient initially presented in a medical emergency with abdominal pain, a feeling of heaviness in the lower abdomen, cough, and dyspnea. The patient had four healthy children, and the last childbirth was five years ago. There was no history of any abortion or stillbirth in the past four years. A highly vascular left adnexal mass was observed on ultrasound abdomen and pelvis. Compute CT chest, abdomen, and pelvis were performed, which revealed metastatic left ovarian choriocarcinoma features. It also showed vascular metastases of the carcinoma in the kidneys, liver, and lungs. We report this case specifically emphasizing ultrasound, multidetector computed tomography (MDCT), and CT angiography findings.