Hyperferritinemia with iron deposition in the basal ganglia and tremor as the initial manifestation of follicular lymphoma.

Iron is an essential element for brain cells that is required for the transport of oxygen, energy generation, myelin synthesis, and production of neurotransmitters. Disturbances in the homeostatic mechanisms of iron metabolism may cause iron accumulation with subsequent oxidative stress and cellular damage. It is important to consider the possibility of both a genetic and acquired iron overload syndrome in patients with neurological symptoms and hyperferritinemia. In this article, we are reporting a unique case characterized by hyperferritinemia with widespread deposition of iron in more than one bodily organ, movement disorder, and hidden malignancy. We stress on the importance of early diagnosis using a systematic approach since early treatment with iron chelators is warranted to prevent the progression of neurological symptoms. Even those patients who have no neurological symptoms with high iron should be monitored closely and treated early to avoid the deposition of iron in the brain. Whether brain damage and MRI changes are reversible completely or partially is a subject for further research.

Transformation of Grade I Follicular Lymphoma to Anaplastic Large Cell Lymphoma CD30+ ALK1- with Complete Response to Brentuximab Vedotin and High-Dose Methotrexate.

Lymphomas are a heterogeneous group of diseases that encompass malignant disorders of B-cells, T-cells, or natural killer cells. B-cell lymphomas represent approximately 80-85% of cases. Transformation of B-cell lymphomas from a low grade to a higher grade within the same lineage is a well-described phenomenon. The most common and well-known transformation is from follicular lymphoma to diffuse large B-cell lymphoma. However, the transformation of B-cell lymphomas to T-cell lymphomas is extremely rare. In this article, we report a case of grade I follicular lymphoma (B-cell lymphoma) that transformed into anaplastic large cell lymphoma CD30+ ALK1- (T-cell lymphoma). This article reported a case with a unique particular combination of morphology and immunophenotype in the same patient. In addition, we report a remarkable response with complete remission following treatment with Brentuximab vedotin (anti-CD30 antibody-drug conjugate) and high-dose methotrexate. The patient achieved this durable response despite the aggressive presentation.

Clinicoradiological Discrepancy in Multisystem Langerhans Cell Histiocytosis with Central Nervous System Involvement.

Langerhans cell histiocytosis (LCH) is a rare neoplasm that is caused by an uncontrolled proliferation of Langerhans cells. The clinical presentation of LCH is heterogeneous and can manifest as single or multiple osteolytic lesions, skin ulcerations, and involvement of single or multiple systems. Central nervous system (CNS) involvement is reported in 3.4-57% of patients with multisystem disease. In this article, we present the case of a young man with single system involvement (bone) of LCH who presented with seizures, headache, papilledema, and tinnitus. His magnetic resonance imaging (MRI) of the brain findings were reported as a normal study. The subtle signs of CNS involvement were missed by the radiologist. However, the high index of suspicion resulted in early diagnosis and treatment. The presence of empty sella turcica in neuroimaging could be the first sign of intracranial disease with chronic intracranial hypertension associated with LCH. This is especially correct if previous computed tomography (CT) scan of the brain was normal with normal appearance of the pituitary gland and the sella. Neuroimaging films should be reviewed by an expert neuroradiologist. In patients with new neurological symptoms who were diagnosed previously with LCH, intracranial disease has to be excluded. The workup in such case should include an MRI of the brain, CT of the brain and temporal bones, bone scan, cerebrospinal fluid analysis, ophthalmological assessment, and measurement of intracranial pressure. In patients with LCH who present with symptoms and signs of raised intracranial pressure, the term idiopathic intracranial hypertension should not be applied until an intracranial disease has been excluded totally. Keywords: Langerhans Cell Histiocytosis; Central Nervous System Involvement; Neuroimaging; Intracranial Hypertension.

Hemorrhagic Brain Metastasis as the Initial Manifestation of Esophageal Adenocarcinoma.

Esophageal carcinoma metastasis to the brain is very rare with less than 300 cases published worldwide. The reported incidence rates of esophageal carcinoma metastases to the brain range from 0.3% to 13%. It is associated with a worse prognosis than brain metastases from other solid tumors. The most common form of metastasis is cystic lesions while hemorrhagic metastasis represents a rare subset of an infrequent entity. It is extremely rare for esophageal carcinoma to present as an isolated brain metastasis with only three cases reported worldwide. These cases were misdiagnosed as meningitis, a pituitary tumor, and glioma. This paper reports the first case of hemorrhagic brain metastasis as the initial and only manifestation of esophageal adenocarcinoma worldwide. Although extensive work up to search for malignancy is a routine procedure in patients with metastatic brain disease, upper gastrointestinal endoscopy, which is rarely done as part of the work up should be included. Esophageal cancer continues to be challenging to manage with very limited therapeutic options. To date, the clinical outcome after treatment is unsatisfactory, and prognosis is poor. Further research is required to identify better treatment approaches and improve the survival of patients. This paper is an urgent call for action to design chemotherapeutic agents that target tumor cells in the blood and different body organs and has the ability to cross the blood-brain barrier with an acceptable side effect profile. This is mainly because metastatic brain disease has become more common in young age group.

Subsequent Development of Desmoid Tumor after a Resected Gastrointestinal Stromal Tumor.

Desmoid tumors (deep fibromatosis) of the mesentery are rare mesenchymal tumors. They are often misdiagnosed, especially with a previous history of resection for gastrointestinal stromal tumor (GIST). Immunohistochemistry can help differentiate between these two tumors. In this article, we present a case we had encountered: a Desmoid tumor developing in a patient with a history of GIST 3 years ago. It is the first case of GIST with subsequent development of Desmoid tumor to be reported in Saudi Arabia. We discuss the two entities of Desmoid tumor and GIST by comparing their definitions, clinical presentations, histological features, immunohistochemistry stains, molecular pathogenesis, prognosis, and treatment. We also discuss the relationship between GIST and the subsequent development of Desmoid tumors and compare our case with case reports in literature.

Anaplastic Sarcoma of the Kidney: A Rare Unique Renal Neoplasm.

Anaplastic sarcoma of the kidney (ASK) is an extremely rare tumor, which usually presents as a large renal mass. Microscopically, the tumor is composed of pleomorphic mesenchymal spindle cells with marked atypia, associated with chondroid differentiation and focal round primitive mesenchymal cells. Herein, we present a case of anaplastic sarcoma of the kidney in a 3-year-old female, who presented with a large abdominal mass. To the best of our knowledge, less than 25 cases are reported in the literature. In addition, this is the first case reported from the Middle East.