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1.
Radiol Case Rep ; 17(4): 1251-1255, 2022 Apr.
Article in English | MEDLINE | ID: mdl-35198087

ABSTRACT

Lumbar radiculopathy is a clinical condition defined by symptoms of pain, weakness, numbness, or tingling due to lumbar nerve root compression in levels L1-L4. Typically, it is characterized by a narrowing near the nerve root possibly caused by stenosis, bone osteophytes, disc herniation, and similar conditions. Reports of lumbar radiculopathy brought about by the presence of a radicular schwannoma are exceedingly rare. In this paper, we discuss the case of a 67-year-old female patient, presenting with complaints of low back pain, numbness, and antalgic gait for the past eight months. Her physical examination revealed motor and sensor neurological deficits affecting the left lower limb. The electromyoneurography evaluation showed neurogenic atrophy of the left radicular area, while the MRI revealed the presence of a giant, radicular schwannoma at L4-L5 level. This case report aims to underscore the clinical course and management of lumbar radiculopathy caused by a rare L4-L5 radicular schwannoma. Our patient had no significant risk factors or previous spinal pathology.

2.
Cureus ; 13(1): e12547, 2021 Jan 07.
Article in English | MEDLINE | ID: mdl-33564541

ABSTRACT

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder that causes muscle weakness, disability, and eventually, death. Respiratory failure is the leading cause of death in ALS. It is common in the advanced stages of the disease. However, acute respiratory failure is a presenting symptom in only a small number of patients, such as in our case. Here, we present the case of a 54-year-old woman with ALS presenting with respiratory failure due to unilateral diaphragm paralysis as the first manifestation. Although rare, respiratory muscle function failure can be the first symptom of motor neuron disease. Therefore, a motor neuron disease such as ALS, which leads to respiratory muscle weakness and diaphragm paralysis, should be considered in cases of unexplained acute respiratory failure.

3.
Cureus ; 12(11): e11464, 2020 Nov 12.
Article in English | MEDLINE | ID: mdl-33329961

ABSTRACT

Spinal muscular atrophy (SMA) is a rare, inherited autosomal recessive disease. Histopathological shreds of evidence related to the condition have suggested degenerative changes at the level of the spinal cord and brain stem. Deletions or mutations in the survival motor neuron 1 (SMN1) gene are the underlying cause of this disease. It is characterized by hypotonia, muscular atrophy, areflexia, fasciculations, and flaccid paralysis. It is further classified into five variants, depending upon the patient's age and clinical features. In this report, we present a rare case of SMA type 2 in a one-year-old female infant who presented with generalized hypotonia and axial body weakness. Besides clinical evaluation, her genetic analysis confirmed that she had a deletion of one of the SMN1 genes. Hence, the diagnosis of SMA type 2 was confirmed. Our study aims to emphasize that clinicians must consider this rare entity whenever a patient presents with the signs and symptoms mentioned above. As the most common cause of death in this disease is respiratory depression, an early diagnosis would prevent complications and help in the parents' genetic counseling.

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