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Neurology and neurosurgery
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
The Duchenne and Becker types of muscular dystrophy are both sex-linked recessive. Fasciculations are characteristic of anterior horn cell disease. In peripheral neuropathies there is weakness and sensory loss distally. In spinal muscular atrophy, electromyography shows evidence of denervation of muscle including low potentials and fasciculations. Nerve conduction studies are within the normal range. In Duchenne muscular dystrophy the serum creatine kinase level is raised at birth and is 10 times the normal value at the age of 1 month.
Neurocutaneous Syndromes With Interstitial Lung Disease
Published in Lourdes R. Laraya-Cuasay, Walter T. Hughes, Interstitial Lung Diseases in Children, 2019
Diffuse cerebral atrophy and dilatation of the ventricular system may show on pneumoencephalography.48,49 Anterior horn cell disease is suggested by fibrillation potentials demonstrated by electromyograms.50 Loss of Purkinje and granular cell layer in the cerebellum,49 evidence of anterior horn cell degeneration and posterior column demyelination,47 skeletal muscle degeneration, degeneration of the acidophilic cells of the pituitary gland,51 and rare thalamic and hypothalamic lesions have all been described.
Neuromuscular Disorders
Published in Louis Solomon, David Warwick, Selvadurai Nayagam, Apley and Solomon's Concise System of Orthopaedics and Trauma, 2014
Louis Solomon, David Warwick, Selvadurai Nayagam
Abnormalities may be predominantly sensory (e.g. diabetic polyneuropathy), predominantly motor (e.g. peroneal muscular atrophy) or mixed. Chronic motor loss with no sensory component is usually due to anterior horn cell disease rather than more esoteric pathology.
Ventral longitudinal intraspinal fluid collection: Rare presentation as brachial amyotrophy and intracranial hypotension
Published in The Journal of Spinal Cord Medicine, 2019
Veeramani Preethish-Kumar, Seena Vengalil, Sarbesh Tiwari, Kiran Polavarapu, M Netravathi, Aravinda Hanumanthapura Ramalingaiah, Atchayaram Nalini
Patient was initially evaluated by the neurosurgeons for cervical compressive myelopathy and he underwent X-rays and contrast MRI of the spine. Subsequently he was evaluated by the neurologist for anterior horn cell disease. Routine biochemical tests were normal. Nerve conduction studies included motor and sensory conductions of median, ulnar, common peroneal and sural nerves. A comprehensive concentric needle electromyography was performed from bilateral Abductor Digiti Minimi (ADM), biceps, triceps, right vastus lateralis and right tibialis anterior. The electrophysiological findings are summarized in Table 1.
Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families
Published in Journal of Neurogenetics, 2021
Mahdieh Pashaei, Atefeh Davarzani, Reza Hajati, Babak Zamani, Shahriar Nafissi, Farzaneh Larti, Yalda Nilipour, Mohammad Rohani, Afagh Alavi
The proband (109-III1) was referred to our center at the age of 18 years with lower limb spasticity and difficulty in walking. The patient’s problems were initiated with gait disturbance and legs’ stiffness at the age of ∼ five years. He suffered from frequent falls, lack of balance, and was not able to stand or walk unaided in recent years. His speech was slurred since he was ∼ five years and now he is unable to talk. He also had dysphagia (frequent chokes and coughing on eating and drinking) and drooling. According to his mother, he did not have a prominent cognitive problem but because of dysarthria and gait disturbance, he was not able to study at a normal school. The psychomotor development was slightly delayed. There was no complaint of hearing and visual disturbance. On examination he had pes planus (Supplementary Figure S1(A)). Speech was anarthric but was able to follow orders. Fundoscopy was normal. There was delay in initiating saccades and mild limitation on down gaze. He had prominent spasticity in the lower extremities, modified Ashworth score (MAS) of 4 and mild to moderate spasticity in upper extremities (MAS of 2). Spastic paraplegia rating scale (SPRS) for him was 30 out of 52. There was also an abnormal posture compatible with dystonia in both arms and also jaw opening dystonia (Supplementary Figure S1(B)). There was also mild hypokinesia of upper limbs. He had bilateral Babinski sign. Hoffmann sign was positive. Deep tendon reflexes were increased in upper limbs but decreased in lower limbs which can be due to severe spasticity, leg deformities and recurrent orthopedic surgeries of legs. Cerebellar exam revealed mild dysmetria on finger to nose test (FTN), but due to prominent spasticity in lower limbs heel to shin test (HST) was not possible. The sensory exam (vibration and pinprick) was normal. He used a walker with spastic, wide-based, and steppage gait (due to bilateral foot drop). Nerve conduction study and electromyography revealed no evidence of neuropathy or anterior horn cell disease. EEG and visual and auditory evoked potentials were normal. Brain MRI revealed no pathology.