Retraction: Fahr Disease: A Rare Cause of First-Time Seizure in the Emergency Department.

[This retracts the article DOI: 10.7759/cureus.19965.].

Co-occurrence of Glycogen Storage Disease Type 2 and Congenital Myasthenic Syndrome Type 5 in a Pediatric Patient: A Case Report.

Glycogen storage disease type 2 (also known as Pompe disease) is a metabolic disorder characterized by an accumulation of glycogen within lysosomes. Pathophysiologically, this condition is caused by an autosomal recessive deficiency of the lysosomal acid alpha-glucosidase enzyme, resulting in defects in lysosomal metabolism. Glycogen accumulation causes advanced muscle weakness (myopathy) throughout the body, including the heart, skeletal muscles, liver, and the neurological system. Currently, there is no definitive treatment for Pompe disease. However, recent studies have indicated that enzyme replacement therapy (ERT) can be effective. Myasthenia gravis (MG) is an autoimmune illness that affects the postsynaptic acetylcholine receptors and causes fatigue that can be eased by rest. MG is frequently accompanied by a thymoma. Dyspnea and/or bulbar symptoms can indicate an imminent crisis requiring immediate intervention. Here, we present a rare case of a four-year-old female patient who initially presented at the age of one month with the infantile form of Pompe disease and congenital myasthenia syndrome type 5. The patient presented with bradycardia, poor suckling, respiratory distress, and respiratory failure requiring assisted ventilation, subglottic stenosis, and tachypnea. Whole exome sequencing was used for definitive diagnosis. ERT (Myozyme) was administered with good results. We propose that early identification and management of Pompe disease with Myozyme can improve patients' condition and ultimately increase the possibility of survival.

Fahr Disease: A Rare Cause of First-Time Seizure in the Emergency Department.

Seizure is a common neurological problem in the emergency department. First-time seizure needs careful evaluation to exclude the underlying structural brain lesions. Neuroimaging studies, including magnetic resonance imaging and computed tomography scan, are strongly recommended for all adult patients with first-time seizures. We report the case of a 35-year-old woman who was brought to the emergency department because of the first-time loss of consciousness episode. She developed bilateral jerky movements in both her upper and lower limbs. It was associated with frothy secretions from the mouth and cyanosis. The episode lasted for two minutes and terminated spontaneously. The patient was tired after gaining consciousness. The past medical history of the patient was remarkable for anxiety, depression, and polycystic ovarian syndrome. She has undergone multiple cognitive behavioral therapy sessions, but she did not take any psychiatric medications. Neurological examination did not reveal any focal neurological deficit. The patient underwent a computed tomography scan to exclude any space-occupying lesion. The unenhanced scan demonstrated bilateral symmetrical calcification of the basal ganglia. No calcification was noted in the cerebellum or the cerebral cortex. Otherwise, no intracranial pathology was seen. Such findings conferred the diagnosis of Fahr disease. The patient was discharged on carbamazepine to prevent further seizure episodes. After six months of follow-up, the patient did not experience further convulsion episodes. Fahr disease is a rare disorder with a wide spectrum of manifestations. Despite its rarity, physicians should keep this condition as a possible differential diagnosis when they encounter an adult patient with a first-time seizure, particularly in a patient with a history of neuropsychiatric disorders.