Primary hepatic neuroendocrine tumors (PHNETs) are an utterly rare subtype of neuroendocrine tumors (NETs) that arise from cells of the neuroendocrine system. Due to the rarity and lack of distinctive radiological features, diagnosis and management of this tumor are challenging. Herein, we report a case of PHNET in a 19-year-old previously healthy female patient whose diagnosis was confirmed by histopathology and immunohistochemistry. This case emphasizes the importance of considering PHNETs in the differential diagnosis of a hepatic mass, management of patients with this disease, and post-operative follow-up.
Dyke-Davidoff-Masson syndrome (DDMS) is a rare disease affecting the brain with almost 100 cases previously reported, with only 21 cases among adults. Due to the intricacy of clinical manifestations and radiological findings, it is difficult to reach the diagnosis. It usually includes atrophy of the cerebral hemisphere, dilation of the lateral ventricle, hypertrophy of skull bones, and hyperpneumatization of air sinuses. Herein, we present a case of a 55-year-old female patient who presented with a new-onset seizure. This case emphasizes the importance of considering DDMS in the differential diagnosis of adult-onset seizures, especially in patients with a previous history of brain insult, and demonstrates the possibility of developing this condition despite the lack of childhood symptoms. To our knowledge, this is the first case reported in Jordan.
Joubert syndrome (JS) is a rare autosomal recessive disease affecting the cilium, an intracellular organelle. It has a wide spectrum of presentations with the involvement of multiple genes. JS has multiple subtypes that are either pure JS or JS with other organ involvement such as the kidneys, liver, and others. However, all subtypes share the involvement of the cerebellar peduncles and the brainstem, which presents as “a molar tooth sign” on magnetic resonance imaging, hypotonia, and intellectual disability. It has a higher prevalence among children with few able to survive to adulthood. Unfortunately, survivors live with debilitating comorbidities. Here, we present the case of a 20-year-old patient who presented with a new onset of dysphagia that led to a diagnosis of JS.
Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome. It is described by the presence of leptomeningeal angiomas, ocular involvement such as choroidal hemangioma and glaucoma, and port-wine stain over the face. Management of SWS-associated ocular complications is challenging and needs regular follow-ups. Herein, we present a case of a 28-year-old male patient who underwent glaucoma surgery but did not adhere to regular follow-ups and later presented with left-sided exophthalmos and eye pain. Management with medical treatment (latanoprost) was effective in the short term, but regular follow-ups are crucial to prevent further progression due to high failure rates.
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