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Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis
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
The advent of molecular understanding of the disorders of peroxisomal biogenesis may ultimately render the earlier distinct clinical phenotypes obsolete. It is clear that there is a spectrum from the very severe Zellweger phenotype to the severe neonatal ALD to the more indolent infantile Refsum disease, and that mutations in the same gene can produce any of these phenotypes. The infantile Refsum phenotype may include some dysmorphic features, such as epicanthal folds, a flat nasal bridge, and low set ears [28]. Hypotonia is impressive in all of these diseases [29]. Retinitis pigmentosa and sensorineural hearing loss are characteristic [30]. These patients learn to walk but with an ataxic gait and they are severely impaired [29]. Some patients have had normal intelligence [13].
Hereditary Spastic Paraparesis and Other Hereditary Myelopathies
Published in Anand D. Pandyan, Hermie J. Hermens, Bernard A. Conway, Neurological Rehabilitation, 2018
Jon Marsden, Lisa Bunn, Amanda Denton, Krishnan Padmakumari Sivaraman Nair
Symptoms include progressive ataxic gait and balance and dysarthria. Associated with this are symptoms of spasticity, hyperreflexia, and nystagmus. In some cases, cerebellar-cognitive changes are also observed, namely deficits in memory, executive dysfunction, naming, and attention; visuo-spatial processing and calculation, however, appear spared.113 In later stages, there is opthalmoplegia and slowing of saccades, amyotrophy, and dystonic posturing. There can also be peripheral nerve involvement leading to a loss of distal sensation and areflexia that is more prominent in older people. Difficulty falling asleep and increased nocturnal wakening are more common in older people with brainstem involvement and can be associated with central apnoea and restless legs syndrome.107
Discussions (D)
Published in Terence R. Anthoney, Neuroanatomy and the Neurologic Exam, 2017
For example, Bickerstaff reserves the label “ataxic gait” for abnormalities caused by damage to cerebellar pathways, yet he describes the high-stepping gait resulting from loss of position sense as “irregular and ill-controlled, the legs move in all directions, with accompanying reeling from side to side on a broad base” (1980, p. 139–140). Most authors of recent textbooks in clinical neuroscience would probably agree that the gait just described is ataxic in appearance, so the fact that it is not normally considered to be an “ataxic gait” by Bickerstaff seems confusing. The gait is ataxic, but it’s not an “ataxic gait.”
Recurrent malignant ovarian adenocarcinoma with central nervous system metastasis successfully treated with paclitaxel, carboplatin, capecitabine, and gemcitabine
Published in Baylor University Medical Center Proceedings, 2023
Soroush Shahrokh, Soraya Salmanian, Mohadese Shahin
Approximately 18 months later, the patient presented with an ataxic gait. Brain magnetic resonance imaging (MRI) revealed multiple metastatic lesions in the pons and the cerebellum (Figure 1a). The patient was diagnosed with recurrent HGSOC with brain metastasis and had whole-brain radiotherapy and six cycles of paclitaxel-carboplatin. She achieved a complete response with no residual lesions on her brain MRI (Figure 1b). Approximately 18 months later, she presented again with abdominal lymphadenopathy and elevated tumor markers. Her positron emission tomography–CT scan revealed multifocal peritoneal seeding and hypermetabolic lymph nodes (Figure 2). The lymph node excisional biopsy revealed recurrent HGSOC. The patient had chemotherapy with six cycles of sequential gemcitabine-carboplatin-paclitaxel and had a complete response. One year later, the patient again presented with elevated tumor markers. Her abdominopelvic CT revealed a splenic lesion, suspicious for recurrent HGSOC. She had a splenectomy, followed by six cycles of nano-albumin bond paclitaxel and carboplatin. The patient achieved a complete response and has remained in remission for the past year. The clinical timeline of the patient’s diagnosis until her most recent treatment is shown in Figure 3.
Copper deficiency myeloneuropathy with a history of malabsorption: a tale of two cases
Published in Journal of Community Hospital Internal Medicine Perspectives, 2021
Anum Qureshi, Emily Bergbower, Janki Patel
Several weeks after his initial admission, he presented to neurology clinic with complaints of bilateral hand and foot numbness as well as difficulty keeping his balance. He reported multiple falls at home and a sensation of wobbliness. On exam, he was noted to have a broad-based ataxic gait. His Romberg sign was positive and hyporeflexia of the lower limbs was observed. Additionally, he was noted to have sensory ataxia as well as a loss of vibration and proprioception. MRI of the brain showed moderate subcortical, periventricular, and deep white matter T2/FLAIR abnormalities. Based on these results and his history of chronic diarrhea, nutritional deficiency seemed to be the most likely culprit. Vitamins B1, E, and D were checked. Vitamin E and Vitamin D levels were low while Vitamin B12 and folate levels were normal. However, his copper level was low at 21 mcg/dL (ref 71–175mcg/dL) with a normal ceruloplasmin (12 mg/dL). As a result, he was started on daily oral copper supplementation of 8 mg followed by 2 mg for 8 weeks as well as daily gabapentin. He experienced little improvement in his myeloneuropathy symptoms.
Unusual gait disorders: a phenomenological approach and classification
Published in Expert Review of Neurotherapeutics, 2019
Vijayashankar Paramanandam, Karlo J. Lizarraga, Derrick Soh, Musleh Algarni, Mohammad Rohani, Alfonso Fasano
The so-called ‘spastic ataxic gait’ is characterized by wide base and irregular stride length along with stiff legs due to spasticity. It is seldom the combination of true ataxia and spasticity (Figure (1c)). In fact, the wide base appears to be more often a compensation or the result of bilateral circumduction due to spasticity. The ‘springing and bouncing gait’ consists of wide-based gait with ankle clonus exacerbated by standing or walking resulting in unsteadiness with a bouncy appearance. This gait pattern is thought to result from a combination of spasticity and ataxia. It can be observed in acquired disorders such as multiple sclerosis, Arnold-Chiari malformation, or subacute combined degeneration of the spinal cord, as well as inherited disorders such as spinocerebellar ataxias (SCA), late-onset Friedreich’s ataxia and others [7,25].