A Rare Case of Hypomyelinating Leukodystrophy and Its Management: A Case Report and Literature Review.

A subset of hereditary white matter disorders called hypomyelinating leukodystrophies (HLD) is characterized primarily by the absence of myelin deposition. Although the clinical presentation can be mild and the development of symptoms can occur in adolescence or adulthood, the majority of severe cases present during infancy and early childhood with significant neurological impairments. The clinical features vary from muscle stiffness to seizures and developmental delay. The detailed myelination process can be seen with magnetic resonance imaging (MRI), and many patients are diagnosed using MRI pattern recognition and next-generation sequencing (NGS) in most cases. Here, we report a case of an infant suffering from the hypomyelinating leukodystrophy-13 (HLD-13) variant, whose next-generation sequencing revealed a pathogenic homozygous variant.

An Infected Intrahepatic Pancreatic Pseudocyst and Calcified Pancreas: A Rare Complication of Chronic Pancreatitis.

Pancreatic pseudocyst is a common complication of pancreatitis and is usually located in the peripancreatic space, spleen, and retroperitoneum. An infected intrahepatic pseudocyst following acute on chronic pancreatitis is extremely rare. Here, we report a case of intrahepatic pancreatic pseudocyst with superimposed infection following chronic pancreatitis in a 42-year-old female who presented with severe abdominal pain, vomiting, and bloating sensation. Her labs showed elevated pancreatic enzymes (amylase and lipase), and a provisional diagnosis of acute pancreatitis was made. Imaging revealed a cystic lesion in the left lobe and a calcified pancreas. Endoscopic aspiration of the cystic lesion and pathologic examination confirmed infected intrahepatic pancreatic pseudocyst due to the high serum amylase level and positive Enterococci on culture in aspirated cystic fluid, complicated by chronic pancreatitis.

Cysticercal Encephalitis in a Young Female: A Rare Presentation of Neurocysticercosis.

One of the most frequent parasite infections of the central nervous system is neurocysticercosis. This neurologic condition is caused by Taenia solium (T. solium) larval infestation. Infected pork intake, poor hygiene practices, water tainted with T. solium, or asymptomatic carriers are the main ways of spread. We describe a case of neurocysticercosis in a young woman who presented with low-grade fever, headache, altered sensorium, and recurrent seizures. Computed tomography of the head revealed an inflammatory granuloma and a ring-increased attenuating lesion in the left temporal region. Additionally, a well-defined rounded discrete lesion was identified in the left parietal region on magnetic resonance imaging of the brain. Even if the symptoms do not initially suggest neurocysticercosis or if the patient lives in a region where the condition is uncommon, our case depicts adding neurocysticercosis to the differential diagnosis for encephalitis.