Browse Items · Pediatric Palliative Care Library

Early peripheral nervous system manifestations of infantile Krabbe disease

Early infantile Krabbe disease is relatively frequent in the Muslim-Arab population in Israel. It can be easily diagnosed when it presents with the classic clinical picture characterized by central nervous system manifestations of spasticity,…

Intrathecal baclofen treatment an option in X-linked adrenoleukodystrophy

Background X-linked adrenoleukodystrophy (X-ALD) is a genetic peroxisomal disorder associated with tissue accumulation of very long chain fatty acids (VLCFAs). In approximately one third of affected males, this causes progressive and irreversible…

Tags: 1134-47-0 (baclofen), 1309378-01-5 (botulinum toxin A), 1638949-86-6 (botulinum toxin A), 1800016-51-6 (botulinum toxin A), 2018, 93384-43-1 (botulinum toxin A), Addison disease, adrenoleukodystrophy/dt [Drug Therapy], adrenoleukodystrophy/su [Surgery], Article, baclofen, Baclofen/dt [drug Therapy], baclofen/po [Oral Drug Administration], baclofen/tl [Intrathecal Drug Administration], balance disorder, behavior change, bladder dysfunction, botulinum toxin A, Case Report, Child, Clinical Article, clinical examination, clonus, diplopia, drug dose increase, Dystonia, Ehrstedt C, European Journal of Paediatric Neurology, Fatigue, hearing disorder, Hjartarson H T, Human, hyperpigmentation, intrathecal baclofen, intrathecal pump, Leukodystrophy, limited mobility, Male, Pain, pharmacologic interventions, Priority Journal, Quality Of Life, Range of Motion, School Child, Spasticity, strabismus, Tedroff K, tone and motor problems, urinary catheter, visual disorder, X chromosome linked disorder/dt [Drug Therapy], X chromosome linked disorder/su [Surgery], X-linked adrenoleukodystrophy

Late onset globoid cell leukodystrophy (Krabbe's disease)--Swedish case with 15 years of follow-up.

We describe a male patient with late onset globoid cell leukodystrophy (GLD) (Krabbe's disease) still alive at 24 years of age, with a well preserved intellectual and communicative capacity, in contrast to visual failure and severe central pyramidal…

Melatonin treatment for sleep disorders in children with neurodevelopmental disorders: an observational study

The study aim was to quantify melatonin-associated improvement in sleep by means of a parent-completed sleep diary during routine outpatient activity. An investigation into sleep disturbance was made at neurology outpatient appointments. Those…

Pediatric leukodystrophies: The role of the otolaryngologist

Background Leukodystrophies consist of degenerative neurogenetic diseases often associated with comorbidities that extend beyond the neurological system. Despite their impacts on patients' quality of life and risks of complications, head and neck…

Tags: 1309378-01-5 (botulinum toxin A), 1638949-86-6 (botulinum toxin A), 1800016-51-6 (botulinum toxin A), 2017, 93384-43-1 (botulinum toxin A), Adolescent, Adult, Aicardi-Goutières syndrome, anamnesis, Article, aspiration pneumonia, Assessment, Bernard G, botulinum toxin A/dt [Drug Therapy], breathing difficulties, characteristics, Child, Clinical Article, Cohort Analysis, Comorbidity, Daniel S J, Drool, drooling, Dysphagia, feeding difficulties, head and neck disease, hearing impairment, Human, hypersalivation/su [Surgery], International Journal of Pediatric Otorhinolaryngology, Kay-Rivest E, Khendek L, Krabbe disease, Leukodystrophy, leukodystrophy/dt [Drug Therapy], nose feeding, otolaryngologist, Pelizaeus-Merzbacher disease, physical examination, Physician Attitude, Priority Journal, Quality Of Life, quality of life assessment, Questionnaire, sleep disturbance, stomach tube, Trajectory, x-linked adreno-leukodystrophy

Sedation for children with metachromatic leukodystrophy undergoing MRI

BACKGROUND: Metachromatic leukodystrophy (MLD) is a lysosomal storage disease with infantile and juvenile onset with a poor prognosis and magnetic resonance imaging (MRI) plays a fundamental role in its diagnosis. Procedural sedation is needed to…

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