Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop in Atlas of Inherited Metabolic Diseases, 2020
Dominantly inherited GTPCH deficiency, Segawa disease, is also known as DOPA-responsive dystonia. Penetrance is reduced, with the frequency of symptoms being 3-fold to 4-fold higher in females as compared to males [38]. The disease manifests classically with difficulty walking as a result of postural dystonia of one leg, usually within the first decade of life, with the mean age of onset of symptoms being about seven years (range 16 months to 13 years) [39]. Within the next 10–15 years dystonia progresses to all limbs, followed by action dystonia and hand tremor, during which time cognition remains intact. Occasionally, in older children, the first signs may start in the arms or be torticollis or writer's cramp (focal dystonia). The dystonia is frequently asymmetrical. Diurnal fluctuation is normally present, with symptoms improving after nighttime sleep or bed rest. The variation in presenting symptoms is, however, large and may include minor muscle cramps, an early nonprogressive course, delayed attainment of motor milestones, or spastic diplegia [38]. Twenty percent of patients also have hyperreflexia and apparent extensor plantar responses (so-called “striatal toes”) mimicking spasticity. There may be parkinsonian features involving reduced facial expression and slowed movements of fingers [40]. Abnormal sleep includes sleeping and nightmares.
Neuromuscular disorders
Ashley W. Blom, David Warwick, Michael R. Whitehouse in Apley and Solomon’s System of Orthopaedics and Trauma, 2017
Diplegia involves both sides of the body, with the lower limbs always most severely affected. Some upper limb dysfunction is invariably present but signs may be subtle. Side-to-side involvement may be asymmetrical and the terms asymmetric diplegia and occasionally bilateral hemiplegia are used. Many cases are secondary to prematurity and periventricular leucomalacia (PVL) is seen on brain MRI. Intelligence is often normal The less severely affected children can have reasonable mobility but the non-walking diplegic patient may be similar to the total body involvement group discussed below.
Infectious Diseases
Stephan Strobel, Lewis Spitz, Stephen D. Marks in Great Ormond Street Handbook of Paediatrics, 2019
A common early sign is the development of spastic diplegia. There may also be failure to achieve developmental milestones, and in the latter part of the disease, developmental regression and seizures may occur. Opportunistic infections of the CNS, common in adults, need to be excluded. CT scan findings may show cerebral atrophy (Fig. 3.29) or basal ganglia enhancement/calcification. Treatment with HAART may lead to some improvement, with reversal of the cognitive and neurological deficits. Without any treatment, the prognosis is bleak (median survival is 11 months).
A case of late-onset OCD developing PLS and FTD
Published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2018
Enrica Bersano, Maria Francesca Sarnelli, Valentina Solara, Fabiola De Marchi, Gian Mauro Sacchetti, Alessandro Stecco, Lucia Corrado, Sandra D’alfonso, Roberto Cantello, Letizia Mazzini
A 64-year-old woman presented to our tertiary amyotrophic lateral sclerosis (ALS) Center reported an 8-month history of muscular weakness in the left leg and, more recently, dysarthria and occasional dysphagia. No history of neurodegenerative or psychiatric disease was present in her relatives. At the age of 57, the patient developed a late-onset OCD, characterized by high state of anxiety and ego-dystonic obsessions and repetitive behaviors (frequent hand washing and object cleaning). She was treated with medication and psychotherapy without benefit. She had no previous medical history or history of substance abuse. On initial examination, she had a spastic diplegia, mild weakness of proximal muscles and asymmetric pyramidal signs in upper and lower limbs side. Needle electromyography (EMG) showed no signs of active denervation, motor-evoked potentials (MEP) detected a delay of the central motor conduction time to the tibialis anterior and first dorsal interosseous on the left side. Hematological screenings (neoplastic and infection markers and antibodies anti-antigens onco neuronalis) were normal, as well as cerebrospinal fluid findings (including dosage of protein Tau, P-Tau, ABeta-42, and isoelectrofocusing). Extensive neuropsychological examination of executive, memory, language, associative, and global functions revealed intact cognitive functioning. Psychological interview supported by administration of Yale–Brown obsessive–compulsive scale, Hospital Anxiety, and Depression Scale and Neuropsychiatric Inventory confirmed OCD with a high state of anxiety.
Influence of Visual Dependence on Inter-Segmental Coordination during Upright Stance in Cerebral Palsy
Published in Journal of Motor Behavior, 2020
Yawen Yu, Carole A. Tucker, Richard T. Lauer, Emily A. Keshner
A limitation in this population is change in tone and range of motion at the ankle. Although we have attempted to minimize the impact of equinus stance across groups, postural strategies could be modified by availability of ankle motion. Another limitation is the lack of a comprehensive evaluation of visuo-perceptual and oculomotor functions of CP. A recent study reported approximately half of individuals with spastic CP with diplegia were accompanied by visuo-perceptual impairment and/or oculomotor dysfunction (Lidbeck et al., 2016). Only VOR responses were tested to identify vestibular function, thus we had no information about the otolith organs which contribute significantly to the stabilization of head (Blouin, Teasdale, & Mouchnino, 2007). Further studies are currently underway in our lab to assess the how postural control in individuals with CP is influenced by visual and vestibular functions.
Paraneoplastic Ophthalmoplegia as the Presenting Sign of Paediatric Glioblastoma Multiforme: A Case Report
Published in Neuro-Ophthalmology, 2021
Arjan S. Dhoot, Caroline Just, Lulu LCD Bursztyn
An 8-year-old boy with a history of attention deficit hyperactivity disorder was noticed by his mother to have increased prominence of both eyes. Over the next few weeks, he developed an upper respiratory tract infection, followed by double vision, and began dragging his left foot. Initially, he could not abduct the left eye, but the right eye moved normally. A week later, he developed almost complete ophthalmoplegia of the right eye. He also had frequent headaches, loss of appetite, but no nausea or vomiting. On initial examination, his visual acuity was 20/25 in both eyes with no relative pupillary afferent defect (RAPD). He had a normal slit lamp exam and normal optic discs. In the right eye, there was almost complete ophthalmoplegia, with a small amount of preserved vertical movement. In the left eye, there was lid retraction and loss of abduction, with relative preservation of adduction, supraduction and infraduction (Figure 1a). No further eye movements were elicited by Doll’s head manoeuvre. Neurologic exam revealed mild facial diplegia, palatal weakness, left upper and lower limb weakness, left arm ataxia and bilateral hyperreflexia.
Related Knowledge Centers
- Cerebral Cortex
- Spinal Cord Injury
- Tetraplegia
- Ventricular System
- Hemiparesis
- Paralysis
- Spasticity
- Paraplegia
- Body
- Cerebral Palsy