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Adrenoleukodystrophy
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Symptoms in the female heterozygote may resemble those of adrenomyeloneuropathy. In a few, there is severe disability with paraparesis [29, 30]. These women may be thought to have multiple sclerosis, if there is no family history of involved males [31]. One patient had intermittent paresthesia from the age of 40 years [31]. Some asymptomatic patients have had hyperreflexia and impaired vibration sensation in the legs. Some have been diagnosed only after they had an affected son [31]. Adrenal insufficiency is rare in most heterozygotes [32]. Some have had dementia. Others have had an adolescent onset of the kind of progressive cerebral disease seen in the male, even with adrenal insufficiency [30, 33].
Post-viral syndromes
Published in Avindra Nath, Joseph R. Berger, Clinical Neurovirology, 2020
Anusha K. Yeshokumar, Eliza Gordon-Lipkin, Brenda Banwell
Clinical features of TM are dependent on the level and cross-sectional area of the spinal cord lesion [25]. Sensory symptoms may include paresthesias (in 80%–95% of patients), numbness, and/or back pain (in 30%–50% of patients). A transverse sensory level can be seen in up to 80% of patients, most commonly in the thoracic region, though cervical and lumbar sensory levels are not infrequently seen. Paraparesis can be seen as well (in 50% of patients). Urinary retention (seen in almost 100% of patients) often necessitating bladder catheterization and constipation requiring aggressive bowel regimens are common as well. Deep tendon reflexes below the level of the lesion may be decreased or absent very early, however, typically become increased later on.
Mitochondrial and peroxisomal disorders
Published in Steve Hannigan, Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
Adrenomyeloneuropathy (AMN) is a milder adult-onset form that tends to primarily afect the spinal nerves. It typically begins in the third or fourth decades of life. Symptoms may include leg stifness, progressive spastic paraparesis (stifness, weakness and/or paralysis) of the lower limbs and ataxia (unsteadiness). Although it is more slowly progressive than the childhood form, AMN can also result in deterioration of brain function.
Depressed skull fracture compressing eloquent cortex causing focal neurologic deficits
Published in Brain Injury, 2023
Alexander In, Brittany M. Stopa, Joshua A. Cuoco, Adeolu L. Olasunkanmi, John J. Entwistle
Diffusion tensor imaging of patients with traumatic brain injuries suggests that motor weakness is most often caused by diffuse axonal injury in addition to intracerebral hemorrhage, transtentorial herniation, and focal cortical contusions (8). However, a depressed fracture fragment can rarely cause focal neurologic deficit(s) due to direct compression of the eloquent cortex (4–7). There are a few reports in the literature that have documented such phenomena (4–7). Mathew et al. (4) reported a case of a 26-year-old male who presented with acute onset isolated quadriplegia after an assault. Imaging demonstrated a midline biparietal depressed fracture with bilateral frontoparietal mixed-density lesions and surrounding edema suggesting venous infarction (4). CT venogram confirmed the injury of the superior sagittal sinus with a lack of filling within the middle one-third of the sinus (4). The patient underwent a biparietal parasagittal craniotomy, elevation of the depressed fracture, and repair of the superior sagittal sinus (4). At 6-month follow-up, the patient demonstrated marked improvement in neurologic function with MRC grade 4/5 power in all four extremities (4). Similarly, Syed et al. (5) described a case of a 55-year-old male who presented initially without neurologic deficits after an assault with imaging demonstrating a biparietal depressed skull fracture overlying the precentral gyri. One day later, progressive paraparesis was observed on examination; however, surgical intervention was not pursued (reason undisclosed) (5).
Experienced consequences of spasticity and effects of botulinum toxin injections: a qualitative study amongst patients with disabling spasticity after stroke
Published in Disability and Rehabilitation, 2021
Hans C. J. W. Kerstens, Ton Satink, Maarten J. Nijkrake, Bert J. M. De Swart, Maria W. G. Nijhuis-van der Sanden, Philip J. Van der Wees, Alexander C. H. Geurts
This study has a number of strengths. First, we used the COREQ criteria for reporting qualitative research [18]. Second, we drew on the experiences of our previous study amongst persons with hereditary spastic paraparesis (HSP) [21] to acquire richer data in the interviews with the stroke participants. In the HSP study we started with a self-constructed interview guide. For the current study, this interview guide was adjusted and enriched with issues reported by persons with HSP in whom spasticity is the most cardinal feature and for which they are often treated with botulinum toxin. For example, persons with HSP mentioned the botulinum toxin dependent fluctuations of spasticity they experienced and this issue was, therefore, added to the interview guide for the current study. Third, the procedures for data collection and analysis were reviewed with the second and third authors, and ultimately with all of the co-authors. Fourth, we collected our data during interviews in the participants’ homes, which created a comfortable and safe context within which the patients could share their experiences.
Genetic diseases mimicking multiple sclerosis
Published in Postgraduate Medicine, 2021
Chueh Lin Hsu, Piotr Iwanowski, Chueh Hsuan Hsu, Wojciech Kozubski
Common clinical presentations that AOKD shares with MS are spasticity, vision problems, numbness, weakness in extremities [76,77]. Spasticity affects approximately eighty percent of MS patients, making it the most disabling and frequent symptoms encountered in MS [78,79]. The most striking manifestations of transverse myelitis in MS are muscle stiffness, urinary dysfunction, sleep disturbances, and worsening mobility restrictions [79]. Wherein AOKD, musculoskeletal complications such as gait and weakness are often the first presenting symptoms. Paralysis ranging from paraparesis to tetraparesis is observed in the majority of affected individuals reported. Spasticity in AOKD results from damage to the cerebral cortex, and is mostly slowly progressive without a remitting period [80-83].