Ophthalmoplegia as the presenting muscle-related manifestation of myotonic dystrophy

Introduction

Myotonic dystrophy type 1 (DM1) is a genetic disorder caused by expanded CTG repeats within the 3’ untranslated region of the dystrophia myotonia protein kinase (DMPK) gene on chromosome 19. Diplopia is rare in this disease and has only been reported in patients with diffuse neuromuscular disorders.

Observation

We report here on the case of a 58-year-old woman in whom ophthalmoplegia was the first neuromuscular manifestation of DM1 and led to the diagnosis. Among the multisystem abnormalities associated with DM1, muscle-related symptoms are prominent, and usually involve the facial and neck muscles early on in the disease. This case provides additional evidence of oculomotor muscle involvement in DM1.

Conclusion

DM1 should, therefore, be considered during the diagnostic workup of any unexplained ophthalmoplegia of muscle origin, especially if there has been a previous history of cataract, even in the absence of typical muscle-related features.     

Papilledema as the presenting manifestation of spinal schwannoma.

A 63-year-old woman with headache, blurred vision, bilateral optic disc edema, and normal cranial magnetic resonance imaging scan underwent lumbar puncture that revealed an elevated opening pressure (290 mm water), a protein level of 114 mg/dl, and mild pleocytosis. Spinal magnetic resonance imaging later demonstrated a sacral tumor, which proved to be a schwannoma with sarcoid-like features. After surgical removal of the tumor, the patient's manifestations resolved. This case emphasizes that low spinal cord tumors can cause elevated intracranial pressure without causing markedly elevated cerebrospinal fluid protein or cells, or any myelopathic manifestations, perhaps by obstructing sacral cerebrospinal drainage. Comprehensive spine imaging should be a part of the evaluation of a patient with papilledema who has normal brain imaging but abnormal spinal fluid constituents.     

Late-onset OCD as presenting manifestation of semantic dementia

Semantic dementia (SD) is a neurodegenerative disease belonging to the spectrum of frontotemporal dementia that presents with loss of memory for words and prevalent left temporal pole atrophy. Behavioral disorders, particularly obsessive-compulsive symptoms, are frequent during the course of the disease. We describe a patient presenting with late-onset typical obsessive-compulsive disorder (OCD) that lasted for 10 years as an isolated condition before developing clinical and neuroimaging features of SD. This case alerts clinicians that late-onset OCD may be a psychiatric presentation of a neurodegenerative disorder such as frontotemporal dementia and requires an accurate diagnostic work-up.     

Third nerve palsy as the presenting manifestation of esthesioneuroblastoma.

A 52-year-old patient experienced unilateral third nerve palsy because of cavernous sinus involvement of biopsy-proven esthesioneuroblastoma. The patient experienced resolution of diplopia after surgical debulking of the tumor. Clinicians should be aware of the neuro-ophthalmologic manifestations of esthesioneuroblastoma.     

Respiratory failure as the presenting manifestation of amyotrophic lateral sclerosis

Although amyotrophic lateral sclerosis (ALS) does not directly affect the lung parenchyma, it can jeopardize the mechanical function of the respiratory system. About one-quarter of ALS patients have had at least one prior misdiagnosis. Therefore, a high clinical suspicion, and careful correlation of physical examination and electromyography (EMG) are needed to reach the correct diagnosis. We report a 65-year-old man who presented with a progressive exertional dyspnea. He was subsequently found to have a diaphragmatic paralysis that was felt to be secondary to spinal cord stenosis. However, his subsequent EMG showed evidence of muscle fasciculation and he was ultimately diagnosed with ALS.     

Orbital apex lesion as the presenting manifestation of sarcoidosis.

A 32-year-old black woman presented with progressive proptosis, diplopia, and optic disc edema of the right eye. A computed tomography scan of the orbit showed a right retroorbital mass. A gallium scan showed increased radiotracer activity in the right retroorbital region. Biopsy of the mass showed non-caseating granulomas that were compatible with sarcoidosis. The patient was treated with systemic steroids, and the proptosis and diplopia resolved. Seven months later, the patient presented with contralateral optic neuropathy. Neuroimaging showed enlargement of the left optic nerve. The patient again responded to systemic steroid treatment and experienced complete restoration of vision. An orbital apex lesion may be the presenting manifestation of sarcoidosis.     

A case of sensory ataxia as the presenting manifestation of neurosarcoidosis

Sarcoidosis rarely selectively affects the cauda equina with characteristic motor and sensory impairments.Using imaging, we report a case of cauda equina polyradiculopathy presenting with progressive sensory ataxia without clinical or electrophysiological evidence of motor involvement. Neurosarcoidosis was diagnosed pathologically by proximal dorsal root biopsy after systemic investigations for inflammatory, infectious, and neoplastic etiologies were found to be negative. There was clinical and radiographic improvement with corticosteroids. In addition, we review previously reported cases of cauda equina sarcoidosis.     

Leptomeningeal infiltration as the presenting manifestation of a malignant glioma.

Infiltration of the leptomeninges by a malignant glioma typically occurs with recurrent supratentorial tumors, but patients may present with leptomeningeal gliomatosis before the primary tumor is diagnosed. This report describes two patients who presented with headache and signs of multifocal neurological disease. One of the patients had neurofibromatosis type I. In both patients the cerebrospinal fluid examination showed a mild pleocytosis, but malignant cells were not detected. The diagnosis of leptomeningeal gliomatosis was not confirmed until autopsy, but in retrospect imaging showed a small, asymptomatic primary tumor in both patients. Leptomeningeal gliomatosis should be considered in the differential diagnosis of chronic meningitis, if the patient is afebrile and if there are multifocal neurological signs, even when a primary tumor is not obvious.     

Camptocormia as presenting manifestation of a spectrum of myopathic disorders

Introduction: Camptocormia is the involuntary flexion of the thoracolumbar spine leading to an abnormal posture. Methods: We retrospectively identified patients with myopathy who manifested with camptocormia and were seen in our neuromuscular clinic. The diagnosis of myopathy was based on myopathic electromyographic changes, often accompanied by 1 or more of the following: elevated creatine kinase (CK); myopathic histopathological findings; and genetic confirmation. Results: Fifty‐two patients were identified; 35 had symptoms limited to camptocormia, but were found to have additional weakness of facial (8 patients), neck (11 patients), and limb muscles (17 patients). CK values were normal or mildly to moderately elevated. MRI/CT of the spine showed paraspinal muscle atrophy and fat replacement. Facioscapulohumeral muscular dystrophy and sporadic inclusion body myositis were the most commonly identified myopathies in this cohort. Conclusions: Despite the difficulty in characterizing the myopathy in patients with camptocormia, a definitive diagnosis was possible in 54% of cases. The pattern of associated extra‐axial weakness may provide clues to the diagnosis. Muscle Nerve 52 : 1008–1012, 2015     

Irreversible papillitis and ophthalmoparesis as a presenting manifestation of neurobrucellosis

A 35-year-old man presented with a meningeal syndrome and acute onset of visual blurring. Clinical investigations revealed bacterial meningitis with bilateral papillitis and ophthalmoparesis. Serum and cerebrospinal fluid serology confirmed the diagnosis of chronic active neurobrucellosis. Following therapy there was no improvement and he developed optic atrophy. Extensive literature review revealed, one case of bilateral irreversible papillitis resulting from neurobrucellosis. However no cases of neurobrucellosis have been reported with meningitis, irreversible papillitis and ophthalmoparesis. This case demonstrates that in endemic areas, acute meningitis is a potential manifestation of neurobrucellosis and that bilateral irreversible papillitis with ophthalmoparesis can be a potential serious complication.     

Brachial plexopathy as a rare presenting manifestation of scorpion envenomation

We report a patient who experienced a rare manifestation of an acute, severe brachial plexopathy as the initial complication of scorpion (presumed Hemiscorpius lepturus species) envenomation. Features suggesting conduction block, due to either proximal demyelination or ion channel dysfunction, along with axonal loss were seen on serial electrophysiological studies. Possible mechanisms of the brachial plexopathy include direct compression from tissue edema or a toxic effect on the membrane channels along the nerve.     

Psychoses as the presenting manifestation of Creutzfeldt-Jakob disease in an elderly male

The differential diagnosis of acute psychosis includes delirium, dementia and primary psychiatric disorders. A comprehensive medical evaluation is crucial to make the proper diagnosis. We report the case of a healthy elderly man who presents with acute psychosis. We describe our diagnostic evaluation based on the patient's history and physical examination, which identified Creutzfeldt-Jakob disease. Avoiding diagnostic error in patients who face such a rapidly progressive and catastrophic illness is paramount.