Results 11 to 20 of about 2,498 (170)
Human Pathology: Case Reports, 2018 Stromal lipofuscinosis of the seminal vesicles has been described in only one prior report as an incidental finding in two patients who underwent prostatectomy for prostatic adenocarcinoma.
Sakkarn Sangkhamanon, MD +2 more
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MRI findings of neuronal ceroid lipofuscinosis in a cat [PDF]
Journal of Feline Medicine and Surgery Open Reports, 2018 Case summary A 2-year-old male domestic shorthair cat presented to the University of Liverpool Small Animal Teaching Hospital with a 2 week history of altered mentation, blindness and focal epileptic seizures.
Crystal White +5 more
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EEG in Late Infantile Neuronal Ceroid Lipofuscinosis
Pediatric Neurology Briefs, 2001 The clinical and electroencephalographic findings in 18 cases (8 girls, 10 boys) with late infantile neuronal ceroid lipofuscinosis (NCL) are reported from the University of Genova, and University of Siena, Italy.
J Gordon Millichap
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Epilepsy in Juvenile Neuronal Ceroid Lipofuscinosis
Pediatric Neurology Briefs, 2000 The clinical characteristics of epilepsy and optimal antiepileptic drug therapy were surveyed in 60 patients (mean age 16 years, range 5-33) with juvenile neuronal ceroid lipofuscinosis (JNCL), followed at the University of Helsinki, Finland.
J Gordon Millichap
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Lamotrigine Therapy in Neuronal Lipofuscinosis
Pediatric Neurology Briefs, 1999 Lamotrigine (LTG) long-term anticonvulsant therapy was evaluated in 29 patients, aged 6-28 years (mean, 14 years), with juvenile neuronal ceroid lipofuscinosis (JNCL), followed for 1-6 years (mean, 3 years) at the Hospital for Children and Adolescents ...
J Gordon Millichap
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Subdural Effusion and Infantile Neuronal Ceroid Lipofuscinosis
Pediatric Neurology Briefs, 2010 During the course of an ongoing NIH clinical study evaluating the benefit of cysteamine and N-acetylcysteine in 9 patients with infantile neuronal ceroid lipofuscinosis (INCL), 4 were found to have subdural fluid collections without mass effect.
J Gordon Millichap
doaj +2 more sources
Spino-Cerebellar Degeneration and Ceroid Lipofuscinosis
Pediatric Neurology Briefs, 1988 Neuronal ceroid lipofuscinosis (NCL) presenting in two different forms within a family is reported from the New York State Office of Mental Retardation and Developmental Disabilities, Institute for Basic Research, 10560 Forest Hill Rd, Staten Island, NY ...
J Gordon Millichap
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Imaging data on characterization of retinal autofluorescent lesions in a mouse model of juvenile neuronal ceroid lipofuscinosis (CLN3 disease) [PDF]
Data in Brief, 2020 Juvenile neuronal ceroid lipofuscinosis (JNCL, aka. juvenile Batten disease or CLN3 disease), a lethal pediatric neurodegenerative disease without cure, often presents with vision impairment and characteristic ophthalmoscopic features including focal ...
Qing Jun Wang +3 more
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CLN6 Variant of Late Infantile Neuronal Ceroid Lipofuscinosis Caused by a Homozygous Mutation: Case Report in Colombia [PDF]
Journal of Inborn Errors of Metabolism and Screening, 2023 Introduction: Neuronal ceroid lipofuscinosis (NCLs) is an autosomal recessive neurodegenerative disorders group. We report the first case in Colombia involving a new genetically confirmed variant of a homozygous CLN6 mutation.
Daniel Eduardo Manrique Hernandez +3 more
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Case Reports in Gastroenterology, 2021 Brown bowel syndrome (BBS) is an exceedingly rare condition usually associated with longstanding malabsorption of any etiology. As a result of vitamin E deficiency and subsequent mitochondrial degeneration due to oxidative stress induced by free radicals,
Adnan Alkurdi +3 more
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