Supranuclear Palsy as an Initial Presentation of the Adult-Onset Niemann-Pick Type C.

(1) Background: Niemann-Pick type C1 (NP-C1) is a lysosomal storage disorder that results in the defective trafficking of cholesterol and other cellular lipids in the endosomal-lysosomal pathway. This rare autosomal recessive disorder presents in three forms based on the age of onset. The adult form presents in patients greater than 15 years of age but is rarely seen after the age of 30. Common symptoms of the late adult-onset category of NP-C1 include progressive cognitive impairment and ataxia, with psychiatric and movement disorders presenting less frequently than in other forms of NP-C1. Dystonic movement disorders present most frequently, along with chorea, myoclonus, and parkinsonism. Herein, we present a rare case of NP-C1, diagnosed at age 35 with an initial symptom of supranuclear palsy. The goal of the presented case is to highlight the importance of the neurological examination and an inclusive differential diagnosis in patients with new-onset supranuclear palsy. (2) Methods: A single case report. (3) Results: A 46-year-old male with a past medical history of NP-C1 was admitted to the hospital for respiratory distress. He was noted to have a supranuclear gaze palsy with partially preserved voluntary saccades to the right. His mother revealed that he first had difficulty moving his eyes at the age of 34. After multiple consultations and genetic testing one year later, he was diagnosed with NP-C1. (4) Conclusions: Because NP-C1 affects many regions of the brain responsible for eye movements, neurological eye assessments can be a useful tool in diagnoses. Furthermore, eye movement abnormalities may be the initial presenting symptom of NP-C1, predisposing patients to misdiagnosis with progressive supranuclear palsy and other conditions that may mimic early-stage NP-C1. Definitive diagnosis is achieved through genetic testing. Filipin staining test was the gold standard in the past. The NP-C Suspicion Index was developed to assist in diagnoses, but its efficacy is unclear with late adult-onset NP-C1. Although no cure exists, early identification can facilitate an improved symptom management course for patients. Miglustat, a glucosylceramide synthase (GCS) inhibitor, is the approved therapy in Europe specific to NP-C1 for slowing and preventing the neurological manifestations of NP-C1. Delays between symptom onset and treatment initiation are likely to result in poorer outcomes and a progression of neurological symptoms. High doses may present tolerance concerns, especially in cases of delayed treatment and advanced neurological deficit.

Rare Case of Primary Adenoid Cystic Carcinoma of the Lung With Bilateral Kidney and Liver Metastasis.

Adenoid cystic carcinoma (ACC) is a rare epithelial tumor that is found in the salivary glands. It is typically slow-growing and follows an indolent course. While it can hematogenously spread to the lungs, distant metastases are rarely reported. Primary ACC in the lung is not common and makes up only 0.04-0.2% of all primary lung tumors. In addition, metastasis of the ACC to liver and bilateral kidneys is not common frequently documented. In this case report, we present a patient with unusual metastases of ACC, as well as non-specific symptoms that warrant discussion for ACC as potential differentials in the appropriate clinical setting.

Rare Case of 6 cm Right Atrial Myxoma in Patient with Synchronous Endometrial Adenocarcinoma.

Primary cardiac tumors are extremely rare. Cardiac myxomas most frequently appear in the left atrium. In this article, we present a case of an asymptomatic 6 cm right atrial mass in a patient undergoing staging for endometrial cancer. The mass was resected, and final pathology was consistent with cardiac myxoma.