Browse Items · Pediatric Palliative Care Library

Abdominal pain related to mitochondrial neurogastrointestinal encephalomyopathy syndrome may benefit from splanchnic nerve blockade

Patients diagnosed with abdominal pain related to mitochondrial neurogastrointestinal encephalopathy (MNGIE) may benefit from splanchnic nerve blockade. MNGIE, varying in age of onset and rate of progression, is caused by loss of function mutation in…

Disputes over Diagnosing Death: Is It Ethical to Test for Death by Neurologic Criteria over Parental Objection?

The article focuses on unpredictable patients diagnosis with death by neurological criteria (DNC) and mentions harm caused by overriding parent's denial in case of Maddie Reece who died of drowning. Topics discussed include team helped to understand…

Tags: 2023, April List 2023, Brain Death, Child Preschool, Consent, Diagnosis, Dissent And Disputes, Eisenberg LR, ethical issues, Ethics Medical, Female, Intracranial Pressure, Neurologic Examination, Parental Attitudes, Resuscitation Cardiopulmonary, The American Journal Of Bioethics

Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations

Glutaric aciduria type I (GA-I) is an inborn error in the degradation of lysine, hydroxylysine, and tryptophan due to a deficiency of glutaryl-CoA dehydrogenase. Glutaric, 3-OH-glutaric, and glutaconic acids are excreted in the urine, particularly…

Tags: 1994, Adolescent, Amino Acid Metabolism Inborn Errors/genetics/physiopathology/therapy, Brain/pathology/physiopathology, Carlsson G, characteristics, Child, Child Preschool, Combined Modality Therapy, Disability Evaluation, Dysarthria/genetics/physiopathology/therapy, Dystonia/genetics/physiopathology/therapy, dystonic-dyskinesia disorder, Female, Fossen A, Glutarates/urine, Glutaric acidemia type I, Glutaryl-CoA Dehydrogenase, Holme I, Humans, hyperkinetic disorder, Infant, Infant Newborn, Intellectual Disability/genetics/physiopathology/therapy, Jellum E, Kyllerman M, Lundberg M, Male, Movement Disorders, Movement Disorders/genetics/physiopathology/therapy, Neurologic Examination, Neuropsychological Tests, Oxidoreductases Acting on CH-CH Group Donors, Oxidoreductases/deficiency, Skjeldal O H, Tomography X-Ray Computed, tone and motor problems, Trajectory, von Dobeln U

Gait, Balance, and Coordination Impairments in Niemann Pick Disease, Type C1

This is the first study to objectively measure gait, balance, and upper limb coordination in a group of patients with NPC1 and compare the results to age and gender matched controls. This is also the first study to report effect sizes in these…

Tags: 2 hydroxypropyl beta cyclodextrin, 2018, 94035-02-6 (2 hydroxypropyl beta cyclodextrin), Adolescent, Adult, Alter K, Article, balance impairment, body equilibrium, case control study, characteristics, Child, Clinical Article, clinical evaluation, Comparative Study, coordination disorder, disease severity assessment, Farhat N, Female, gait disorder, Human, Human Development, intervention study, Journal of Child Neurology, Keener L A, Male, molecular stability, motion analysis system, Neurologic Examination, Niemann Pick disease, NIH NPC Neurologic Severity Scale, NPC, outcome assessment, performance, Porter F, Preschool Child, Priority Journal, Research, Retrospective Study, Sansare A, School Child, scoring system, spatiotemporal analysis, stabilography, Stanley C, tone and motor problems, Trajectory, Upper limb, vts 270, Young Adult, Zampieri C

Movement disorder in ataxia-telangiectasia: treatment with amantadine sulfate

Ataxia-telangiectasia is a cerebellar neurodegenerative disorder presenting with ataxia, chorea, myoclonus, and bradykinesia. Literature on treatment of movement disorders is scarce. We treated 17 children (aged 11.2 +/- 3.9 years) for 8 weeks with…

Neurologic course of congenital disorders of glycosylation

Congenital disorders of glycosylation, formerly called carbohydrate-deficient glycoprotein syndrome, may present in infancy with slowly progressive neurologic deficits including cognitive impairment, ataxia, pigmentary retinal degeneration, and…

Neurologic presentations of mitochondrial disorders

This article describes the neurologic presentations of children with mitochondrial disorders. The charts of 42 children with highly suspect mitochondrial disorders were reviewed. Thirty-seven children were diagnosed as having definite mitochondrial…

Peroxisomal disorders

Peroxisomes are membrane-bound subcellular organelles that are involved in a variety of cellular functions. Disorders of peroxisomes, either in their assembly or single enzyme deficiencies, manifest themselves in the nervous system both in…

Tags: 2001, Adrenoleukodystrophy/diagnosis/genetics/physiopathology, Adult, Backlog, Brain/physiopathology, Central Nervous System Diseases/diagnosis/genetics/physiopathology, Child, Current Opinion in Neurology, Female, Humans, Journal Article, Male, Neurologic Examination, Peroxisomal Disorders/diagnosis/genetics/physiopathology, Peroxisomes/genetics/physiology, Phenotype, Raymond GV, Spinal Cord/physiopathology

Prospective study of spinal muscular atrophy before age 6 years. DCN/SMA Group

Spinal muscular atrophy (SMA) is a common neuromuscular disorder of childhood, associated with a high mortality rate during the first 2 years of life. Most practitioners expect patients with SMA to follow a progressive course with loss of muscle…

Racial Inequities in Palliative Referral for Children with High-Intensity Neurologic Impairment

Objective: To evaluate whether racial and socioeconomic inequities in pediatric palliative care utilization extend to children with high-intensity neurologic impairment (HI-NI), which is a chronic neurological diagnosis resulting in substantial…

Reduced life expectancy in 40 cases of early onset cerebellar ataxia with retained tendon reflexes: a population-based study

A survival analysis of 40 cases of early onset cerebellar ataxia (EOCA) with retained tendon reflexes was performed. They represent all cases of EOCA diagnosed between 1945 and 1990 among residents of a defined area of Northwestern Italy, followed up…

Subthalamic Nuclei Stimulation in Patients With Pantothenate Kinase-Associated Neurodegeneration (PKAN)

Introduction: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disease that leads to extrapyramidal symptoms, such as dystonia, ataxia, dysarthria, and involuntary movements. Treatment of PKAN with deep…

Wilson's disease: a longitudinal study of psychiatric symptoms

One hundred and twenty-nine cases of Wilson's disease (WD) were assessed at index admission and two follow-ups (F1 and F2) on a range of clinical and biochemical variables. The commonest psychiatric symptoms throughout were incongruous behavior,…

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