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Neuronal Ceroid Lipofuscinosis 4B

ANCL


Presentation

  • This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders.[books.google.com]
  • Clinical description The clinical presentation varies widely between forms but the clinical hallmark is a combination of dementia, visual loss, and epilepsy.[orpha.net]
  • Results: The present patient was a 4-year-old girl who presented at 2 years and 10 months old with seizures followed by ataxia, regression of skills, and eventual visual decline. TPP1 enzyme activity was below normal for age.[atm.amegroups.com]
  • The present diagnosis of Leber’s congenital amaurosis is not a clinical syndrome but an aspecific symptom complex. 1979 S. Karger AG, Basel Article / Publication Details First-Page Preview[karger.com]
  • CLN2 disease most commonly presents with seizures and/or ataxia in the late-infantile period (ages 2–4), often in combination with a history of language delay, followed by progressive childhood dementia, motor and visual deterioration, and early death[moh-it.pure.elsevier.com]
Visual Hallucination
  • hallucinations 0002367 Showing of 17 Last updated: 11/1/2018 Making a diagnosis for a genetic or rare disease can often be challenging.[rarediseases.info.nih.gov]
Auditory Hallucination
  • Treatment options are limited to therapies that can help relieve some of the symptoms. 0001317 Adult onset Symptoms begin in adulthood 0003581 Ataxia 0001251 Auditory hallucinations Hallucinations of sound Hearing sounds [ more ] 0008765 Autosomal dominant[rarediseases.info.nih.gov]

Treatment

  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available.[books.google.com]
  • This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders.[books.google.com]
  • Management and treatment There is no curative treatment for NCLs and management is supportive only.[orpha.net]
  • Management and treatment Treatment is supportive only and should consist of palliative care with administration of anticonvulsive drugs; as well as educational, psychological, and psychiatric management.[orpha.net]

Prognosis

  • Prognosis Although all NCLs lead to severe disability, the prognosis is variable with life expectancy ranging from a few hours or days after birth for the congenital form to survival into the fifth decade for patients with the adult-onset form.[orpha.net]
  • Prognosis The prognosis for JNCL is severe but life expectancy varies with some patients surviving to the fourth decade. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Prognosis There will be mental impairment , worsening seizures and progressive loss of sight and motor skills. Batten's syndrome is often fatal by the late teens or twenties.[patient.info]
  • HER2 expression in breast cancer is associated with poor prognosis ( 26 ).[frontiersin.org]

Etiology

  • The syndromic approach is completed by an etiological approach, based on the major advances in genetics and functional genetics.[books.google.com]
  • Etiology To date, at least 10 genetic NCL disorders have been reported and are designated as CLN1 to CLN10.[orpha.net]
  • Etiology JNCLs are transmitted in an autosomal recessive manner and mutations in the following genes may result in JNCL with a classic and/or variant phenotype: PPT1 (designated CLN1 ; 1p32), TPP1 (11p15; designated CLN2 ), CLN3 (16p12), CLN8 (8p23; responsible[orpha.net]
  • To date no specific enzymatic deficiency as the etiology of the condition is known.[healio.com]

Epidemiology

  • It was necessary to justify the physiological, epidemiologic, genetic and therapeutic approaches and to consider them in the light of the new classification efforts, which are still in the making.[books.google.com]
  • Summary Epidemiology The exact prevalence and incidence of this group of disorders are unknown.[orpha.net]
  • Summary Epidemiology Worldwide prevalence is unknown.[orpha.net]
  • Epidemiology It is a rare condition with a variable incidence across different countries.[patient.info]
  • Relevant External Links for CLN6 Genetic Association Database (GAD) CLN6 Human Genome Epidemiology (HuGE) Navigator CLN6 Atlas of Genetics and Cytogenetics in Oncology and Haematology: CLN6 No data available for Genatlas for CLN6 Gene Mutations in CLN7[genecards.org]
Sex distribution
Age distribution

Pathophysiology

  • Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Neuronal ceroid lipofuscinoses (NCLs) are a subset of lysosomal storage diseases that involve defective cellular processing of[mayomedicallaboratories.com]

Prevention

  • Supported in part by an unrestricted grant from Research to Prevent Blindness, Inc., New York, NY, and the Children’s Miracle Network. The authors have no proprietary interest in any aspect of this article. Reprint requests: Dean P.[journals.lww.com]
  • Physiotherapy helps affected children retain the ability to remain upright for as long as possible, and prevents some of the pain. Recent attempts to treat INCL with cystagon have been unsuccessful.[en.wikipedia.org]
  • NCI_CTEP-SDC (Cancer Therapy Evaluation Program - Simple Disease Classification) 2015AB NCI_CareLex (Content Archive Resource Exchange Lexicon) 2015AB NCI_DCP (NCI Division of Cancer Prevention Program) 2015AB NCI_DICOM (Digital Imaging Communications[doctor.am]
  • Through defects in endocytosis, autophagy, lysosomal and mitochondrial function, and cytoskeleton, the JNCL gene defect may prevent cells from growing to wild-type size.[publikationen.ub.uni-frankfurt.de]
  • Postoperatively, non-invasive techniques of respiratory support such as bilevel positive airway pressure support (BiPAP) may facilitate postoperative tracheal extubation and prevent atelectasis in patients with altered respiratory function. [26] , [27[saudija.org]

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