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Congenital Neuronal Ceroid Lipofuscinosis 



  • Clinical presentation is heterogeneous as is onset, which renders the diagnosis hard to make.[radiopaedia.org]
  • Poster session presented at: The 12th Annual WORLD Symposium; February – March 2016; San Diego, CA.[cln2connection.com]
  • Pulmonary disease is present in 80% of patients and is a major cause of morbidity and mortality ( 72 ).[ncbi.nlm.nih.gov]
  • […] neurons obtained from mouse embryonic cerebral cortex at E16, Lysotracker red-positive acidic compartments were largely localized in cell bodies and dendrites at 10 days after the start of cultures (DIV), although such positive vesicles were abundantly present[jnss.org]
  • Wisniewski et al reported similar patients who initially presented with psychiatric or behavioral symptoms but otherwise had a typical course. CLN4 The adult form of NCL (ANCL) is associated with mutations of the CLN4 gene.[emedicine.medscape.com]
  • Historically, splenectomy was performed for patients with significant splenomegaly and thrombocytopenia, but ERT has obviated the need for this.[ncbi.nlm.nih.gov]
Recurrent Respiratory Infections
  • Feeding difficulties, vomiting, diarrhea, cholestatic jaundice, and recurrent respiratory infections are also common. A macular cherry red spot can be seen in all infants by 12 months ( 72 ).[ncbi.nlm.nih.gov]
  • Individuals with adult-onset disease have normal heart function and may only complain of proximal muscle weakness.[ncbi.nlm.nih.gov]
  • Care is supportive, with attention to issues common to other neurodegenerative conditions such nutrition, risk of aspiration, need for respiratory support, etc. Less data on treatment efficacy are available for Gaucher disease type III.[ncbi.nlm.nih.gov]
Respiratory Insufficiency
  • Angiokeratomas (clusters of purplish, non-blanching punctate lesions) and hypohidrosis may also present in childhood.[ncbi.nlm.nih.gov]
  • For acroparesthesias, gabapentin and carbamazepine are typically prescribed. Opioid analgesics should be avoided.[ncbi.nlm.nih.gov]
  • Over time, the child develops hearing loss, cardiac valve disease, airway obstruction, skeletal contractures, and distinctive facial appearance with macrocephaly, thick eyebrows, gingival hypertrophy, macroglossia, and thickening of the lips and nasal[ncbi.nlm.nih.gov]
Aggressive Behavior
  • Psychiatric symptoms, present in 40% of adolescents and adults, include hallucinations, delusions, cognitive decline, dementia, depression, bipolar disorder, disruptive and aggressive behavior ( 77, 78 ).[ncbi.nlm.nih.gov]
  • Other features in addition to those above include oculomotor apraxia, esotropia, and hearing loss. The somatic problems of Gaucher type I are often present but less severe.[ncbi.nlm.nih.gov]
  • As the disease progresses, affected children develop significant behavioral problems including aggression, hyperactivity, decreased attention span, tantrums, anxiety, and destructive behaviors.[ncbi.nlm.nih.gov]
  • In classic males, the earliest symptoms are neuropathic pain, often in the form of acroparesthesias (burning, tingling pain crises in the hands and feet), and GI symptoms such as abdominal pain and diarrhea beginning at 5–10 years of age ( 58 ).[ncbi.nlm.nih.gov]
  • In the classic childhood form, patients present between 2–6 years of age with hepatosplenomegaly and subtle neurologic features, such as behavior problems or clumsiness.[ncbi.nlm.nih.gov]


  • Clinical Testing and Workup Enzymes assays are tests that measure the activity of specific enzymes. In some types of ANCL, reduced enzyme activity can be demonstrated on an assay.[rarediseases.org]
Erlenmeyer Flask Deformity of the Femur
  • With regard to bone disease specifically, 33% of patients suffer bone crises, 42% osteopenia, 40% marrow infiltration with Erlenmeyer flask deformity of the femur, 25% avascular necrosis, 15% pathologic fractures, and 8% lytic lesions ( 40 ).[ncbi.nlm.nih.gov]
Ventricular Hypertrophy
  • Cardiac manifestations include left ventricular hypertrophy (LVH), arrhythmias, myocardial fibrosis, syncope, and exercise intolerance ( 59, 63 ). The age of onset of LVH is in the fourth to fifth decade.[ncbi.nlm.nih.gov]


  • The mainstay of treatment is ERT.[ncbi.nlm.nih.gov]
  • Standard Therapies Treatment The treatment of adult neuronal ceroid lipofuscinosis is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists.[rarediseases.org]
  • EDT Treatment Options for Congenital Corneal Opacities: Peters Anomaly/Sclerocornea Ken Nischal, MD, FRCOphth Friday, June 21, 2019 2 to 3 p.m.[rarediseaseday.org]
  • At this time, there are no effective treatment options for CLN10 disease.[rarediseases.info.nih.gov]
  • 雑誌 Brain Dev 31:499-502 (2009) DOI: 10.1016/j.braindev.2008.12.008 文献 PMID: 18668166 (treatment/ drug) 著者 Pierret C, Morrison JA, Kirk MD タイトル Treatment of lysosomal storage disorders: focus on the neuronal ceroid-lipofuscinoses.[genome.jp]


  • Although there were no unexpected serious adverse events that were unequivocally attributable to the AAV2 CU hCLN2 vector, there were serious adverse effects, the etiology of which could not be determined under the conditions of the experiment.[liebertpub.com]


  • Epidemiology and natural history of Gaucher's disease. Eur J Intern Med 2006; 17 Suppl :S2-5. 10.1016/j.ejim.2006.07.005 [ PubMed ] [ CrossRef ] [ Google Scholar ] 40. Charrow J, Andersson HC, Kaplan P, et al.[ncbi.nlm.nih.gov]
Sex distribution
Age distribution


  • Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment. Front Biosci (Landmark Ed) 2017; 22 :385-406. 10.2741/4490 [ PubMed ] [ CrossRef ] [ Google Scholar ] 26. Montaño AM, Lock-Hock N, Steiner RD, et al.[ncbi.nlm.nih.gov]


  • In mice carrying a PPT1 mutation, NtBuHA prevented neuronal cell loss, mitigated behavioral deterioration and increased survival rates.[natureasia.com]
  • […] after early infancy is also shortened, but varies based on when their symptoms began. [1] CLN10 disease is caused by changes ( mutations ) in the CTSD gene and inheritance is autosomal recessive. [1] [3] If the disease-causing genetic change completely prevents[rarediseases.info.nih.gov]
  • […] syndrome patient and development an efficient method for detecting CDKL5 activity The European Human Genetics Conference 2019 2019/06/16 2 Cdkl5ノックアウトP19細胞に対する漢方薬「抑肝散」の神経分化促進作用 第41回 日本分子生物学会年会 2018/11/28 3 Eldecalcitol, a vitamin D analogue, for diabetes prevention[research-db.ritsumei.ac.jp]
  • Challenges to internal security through communication networks, the role of media and social networking sites in internal security challenges, basics of cybersecurity; money-laundering and its prevention Security challenges and their management in border[iasexpress.net]
  • Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series.[ncbi.nlm.nih.gov]

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