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1.
Ann Med Surg (Lond) ; 86(7): 4231-4235, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38989207

ABSTRACT

Introduction and importance: The primary clinical symptom in people with myasthenia gravis (MG) is muscle weakness that gets worse with activity and gets better with rest; often, the first symptoms are ocular ones, such as ptosis and double vision. On the other hand, individuals with anti-muscle-specific tyrosine kinase may present with unusual symptoms. Nonetheless, it is hypothesized that muscle-specific tyrosine kinase antibodies may be present when no antibodies are present, along with bulbar and respiratory symptoms. Case presentation: A 26-year-old pregnant patient was referred to the Neurology Department after experiencing tongue enlargement. A neuro-ophthalmic assessment revealed ptosis with lateral diplopia in the right eye, bulbar palsy, facial weakness, weakness in the palate and pharyngeal reflex, dizziness, and hearing loss in her right ear. The patient was given magnesium sulfate for 2 days since pre-eclampsia was suspected; however, this treatment exacerbated the development of symptoms and was discontinued. Her MG symptoms gradually improved after starting medication. Nonetheless, bilateral weakness in the neck and limb flexion persisted. Following a few days of therapy, there were no indications of diplopia, swallowing was normal, and the muscular weakness was somewhat improved. Clinical discussion: The patient was put on drug treatment for MG (predlon 60 mg daily, amioran 50 mg twice daily, and mistenon). Conclusion: Treating severe MG patients with a customized approach aims to manage their symptoms and improve their quality of life. Reduce muscle weakness, eradicate circulating antibodies, and suppress the abnormal immunological response. Minimizing side effects while attaining ideal symptom control is the ultimate objective.

2.
Urol Case Rep ; 54: 102705, 2024 May.
Article in English | MEDLINE | ID: mdl-38827532

ABSTRACT

Tuberous sclerosis complex (TSC) is a genetically inherited disorder distinguished by the development of numerous benign neoplasms across multiple organ systems. Renal angiomyolipoma represents 0.3% of all primary renal tumors and are classified as benign mixed mesenchymal neoplasms. In this report, we reported the clinical presentation of a 28-year-old individual who was received by the department of urology. The patient was admitted presenting with asymptomatic, macroscopic hematuria that had been ongoing for a period of 10 days. Subsequent diagnostic evaluations revealed an association between the presenting urinary condition and tuberous sclerosis complex with a concurrent renal angiomyolipom.

3.
Ann Med Surg (Lond) ; 86(5): 3139-3145, 2024 May.
Article in English | MEDLINE | ID: mdl-38694282

ABSTRACT

Introduction: Charcot-Marie-Tooth (CMT) is a group of inherited neuromuscular disorders that vary clinically and genetically. It is characterized by peripheral nerve damage, leading to muscle weakness and sensory loss. Case presentation: A 13-year-old male presented to the rheumatology department with bilateral hearing impairment since the age of 3 years, pes cavus, and difficulties walking. Some family members had Achilles tendon lengthening surgery. During physical examination, the patient had a shortened Achilles tendon, there are high arches in the feet, curled toes, loss of touch sensation in the feet, ankles, and legs, atrophy in the foot muscles. An eye examination revealed a discrepancy that needed glasses. Neurological findings included horizontal and vertical nystagmus, proprioception disorder, and demyelinating sensorimotor disorder diagnosed as CMT type 1. The audiogram showed bilateral sensorineural hearing impairment. MRI revealed spinal disc bulges. The treatment plan includes Achilles tendon lengthening surgery and physical therapy. Clinical discussion: CMT patients need to receive supportive treatment including physical therapy, hearing aids, and glasses, to help improve their quality of life. Conclusion: CMT disease is a genetic disorder that causes difficulties in movement, coordination, and daily activities due to muscle weakness and sensory impairments. In a few cases, patients have been documented to have bilateral hearing impairment as their first symptoms. It affects individuals in Syria and around the world, and requires proper diagnosis and treatment.

4.
Ann Med Surg (Lond) ; 86(3): 1687-1690, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38463122

ABSTRACT

Introduction and importance: Raghib syndrome is a rare congenital complication consisting of the termination of the left superior vena cava (LSVC) in the left atrium, an unroofed coronary sinus, and an atrial septal defect most often found in the posterior-inferior angle of the atrial septum. Both a right-to-left and a left-to-right intracardiac shunt exist. In most circumstances, they do not show any symptoms. Presentation of case: The patient presented with a persistent left superior vena cava draining into the left atrium, an unroofed coronary sinus, and a secondary atrial septal defect (ASD). Transthoracic echocardiography was used to diagnose the condition, and surgery was applied as the primary treatment. Clinical discussion: It was formerly believed that this complex was exclusive to Raghib syndrome; however, cases have been found in which the interatrial connection is the aperture of the unroofed coronary sinus in patients with a normal atrial septum. Conclusion: Extracardiac treatment for this illness reduces the load on the left atrial suture and may stop further arrhythmias. There is no possibility of pulmonary vein flow restriction when there are no atrial tunnels.

5.
Ann Med Surg (Lond) ; 86(1): 545-547, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38222745

ABSTRACT

Background: Ecthyma contagiosum, sometimes referred to as human orf, is a zoonotic disease caused by the orf virus that is mostly acquired by coming into contact with diseased animals such as sheep or goats. The orf virus, a DNA virus belonging to the Poxviridae family, infects epidermal keratinocytes via breaking down the skin barrier, which can be caused by burns or wounds. The accompanying characteristic skin lesions can take on a range of morphologies depending on the infection's stage; lesions that are crusted, papillomatous, maculopapular, targetoid, and nodular can occur before clearing up. In addition to the lips and corners of the mouth, infected animals may also have lesions on the neck, vulva, and teeth. Skin sores caused by Ecthyma contagiousum discharge the orf virus into the environment. Case presentation: A 4-month-old male infant with no medical history brought himself to the dermatology clinic with a minor fever and a skin lesion on his nose. An orf virus infection was discovered in the newborn through blood culture and PCR testing. For a subsequent infection, the patient received fusidic acid cream, an antibiotic, and an antipyretic. Following a follow-up of 3 months, the lesion vanished entirely. Conclusion: Rarely, as in our instance, are orf nodules seen somewhere else than the hands. In order to appropriately treat a patient without fear, clinicians should keep this in mind, especially if they come up with a history similar to that of our patient.

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