Browse Items · Pediatric Palliative Care Library

CIRCADIAN-RHYTHM STUDIES IN NEURONAL CEROID-LIPOFUSCINOSIS (NCL)

Sleep disorders are common in NCL patients, The patients have problems such as frequent awakenings, difficulties with sleep onset, nightmares, and night terrors, The aim of the study was to examine whether the sleep disturbance in NCL can be…

Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates

Thirteen infants with achondroplasia underwent psychometric testing as part of a comprehensive neurologic assessment. As a group, mental development was average and motor development was delayed, although a wide range of scores was obtained. Foramen…

Experiences of children with trisomy 18 referred to pediatric palliative care services on two continents

Children with trisomy 18 that survive beyond the neonatal period have multiple congenital anomalies, neurodevelopmental disability, and high mortality rates. The experience of children with trisomy 18 who receive pediatric palliative care services is…

Tags: 2019, American Journal Of Medical Genetics, Bluebond-Langner M, Craig F, June 2019 List, Mullin J, Palliative Care, Pediatrics, Trisomy 18, Wolfe J

Follow-up on seven adult patients with mild Sanfilippo B-disease.

This report describes 7 patients, aged 30 to 43 years, suffering from a mild variant of Sanfilippo B-disease. Somatic findings in these patients are unremarkable. Dementia and behavioral disturbances occurred late in the course of the disease. All 7…

Tags: 1987, Adult, Age Factors, American Journal Of Medical Genetics, Backlog, Dementia/complications/genetics, Female, Follow-up Studies, Humans, Journal Article, Longitudinal Studies, Male, Mental Retardation/complications/genetics, Mucopolysaccharidoses/genetics, Mucopolysaccharidosis III/genetics, Pedigree, van de Kamp JJ, van Schrojenstein-de Valk HM

Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature

A boy presented at age 3.5 months with joint contractures, restlessness, and pain on handling. His skin was thickened and there were livid-red macular lesions over bony prominences. Infantile systemic hyalinosis (ISH) was diagnosed, a presumably…

Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations

We examined 26 individuals with clinical and electron microscopic signs of late infantile neuronal ceroid lipofuscinosis (LINCL). In 22 cases, we found both pathogenic alleles. Sixteen patients exclusively carried either one or a combination of the…

Neuronal ceroid-lipofuscinosis: A clinical and morphological study of 19 patients.

We report on clinical, electrophysiological, neuroradiological, and morphological data from 19 patients with different types (late infantile, juvenile, and adult) of neuronal ceroid-lipofuscinosis (NCL), observed in the last 10 years at the…

Occurrence of the Sandifer complex in the Brachmann-de Lange syndrome

Gastroesophageal reflux is a common occurrence in infancy. The most severe complications of reflux include torticollis, opisthotonus, and paroxysmal dystonic posture (known as the Sandifer complex). We examined 17 patients now ranging in age from 9…

Tags: 1993, Adolescent, Adult, American Journal Of Medical Genetics, Backlog, Child, De Lange Syndrome/complications, Esophagitis/complications/prevention & control, Gastroesophageal Reflux/complications, Humans, Infant, Journal Article, Posture, Sommer A, Spasm/complications, Torticollis/complications

Occurrence of the Sandifer complex in the Brachmann-de Lange syndrome

Gastroesophageal reflux is a common occurrence in infancy. The most severe complications of reflux include torticollis, opisthotonus, and paroxysmal dystonic posture (known as the Sandifer complex). We examined 17 patients now ranging in age from 9…

Sixty-four patients with Brachmann-de Lange syndrome: a survey

We surveyed 64 individuals with the diagnosis of Brachmann-de Lange syndrome (BDLS) to determine the natural course and cause of the disorder. The 64 individuals were ascertained through membership in a national organization, the Cornelia de Lange…

Therapeutic modification of membrane lipid abnormalities in juvenile neuronal ceroid-lipofuscinosis (Batten disease).

Five patients with juvenile neuronal ceroid-lipofuscinosis, who were shown to have absent or reduced serum prebetalipoprotein and a deficiency of polyunsaturated fatty acids in erythrocyte membrane lipids, were treated for a period of one year with…

Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials

The occurrence of obstructive sleep apnea (OSA) is achondroplasia has been linked to brain stem compression. Overnight sleep studies (11 subjects) and somatosensory-evoked potentials (SEP's, 10 subjects) were recorded before and after conventional…

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