Unraveling neuronal ceroid lipofuscinosis type 2 (CLN2) disease: A tertiary center experience for determinants of diagnostic delay

2021 ◽  
Author(s):  
Didem Ardicli ◽  
Goknur Haliloglu ◽  
Rahsan Gocmen ◽  
Ceren Gunbey ◽  
Meral Topcu
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Diagnostic Delay ◽  
Ceroid Lipofuscinosis ◽  
Tertiary Center

Experience in Diagnosing Neuronal Ceroid Lipofuscinosis Type-2

2021 ◽  
Vol 71 (5) ◽  
pp. 234-240
Author(s):  
Lanny Christine Gultom ◽  
Valensia Vivian The
Keyword(s):  
Neurodegenerative Disorder ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Early Stage ◽  
Diagnostic Delay ◽  
Compound Heterozygous ◽  
Recurrent Seizure ◽  
Enzyme Replacement ◽  
Ceroid Lipofuscinosis ◽  
Developmental Regression

Introduction: Developmental regression is always an alarming symptom in children as it is an early sign of some genetic disorders, one of which is neuronal ceroid lipofuscinosis (NCL). NCL is a group of rare neurodegenerative disorder caused by accumulation of intracellular ceroid lipofuscin. Since 2017 an enzyme replacement therapy (ERT) has been approved by Food and Drug Administration (FDA) for this disease. The symptoms of NCL could be managed by ERT if detected early, and the child could live normally.Case: We present a case of a 6-year-and-5-month-old boy with developmental regression, speech delay, recurrent seizure, and visual impairment, who was diagnosed with NCL type 2 after genetic testing. Compound heterozygous mutations in tripeptidyl-peptidase 1 (TPP1) gene was revealed, consistent with very low level of TPP1 enzyme in this patient.Discussion: NCL is a fatal disease which is often misdiagnosed in early stage. Diagnostic delay of NCL often occurs due to lack of awareness which often leads to premature death.Conclusion: Knowledge regarding the disease is important for early detection and to slow down the disease progression.  

Current understanding of language development in late infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)

2020 ◽  
Vol 129 (2) ◽  
pp. S116
Author(s):  
Miriam Nickel ◽  
Nicola Specchio ◽  
Rebecca Greenaway ◽  
Christiane Hamborg ◽  
Benedetta Ragni ◽  
...  
Keyword(s):  
Language Development ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Current Understanding ◽  
Infantile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis

scholarly journals Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics

2020 ◽  
Vol 110 ◽  
pp. 64-70 ◽  
Author(s):  
Emily de los Reyes ◽  
Lenora Lehwald ◽  
Erika F. Augustine ◽  
Elizabeth Berry-Kravis ◽  
Karen Butler ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis

Review of Cerliponase Alfa: Recombinant Human Enzyme Replacement Therapy for Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2

2019 ◽  
Vol 35 (5) ◽  
pp. 348-353 ◽  
Author(s):  
Grace Lewis ◽  
Amanda M. Morrill ◽  
Stephanie L. Conway-Allen ◽  
Bernard Kim
Keyword(s):  
Adverse Events ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Efficacy And Safety ◽  
Infantile Neuronal Ceroid Lipofuscinosis ◽  
Enzyme Replacement ◽  
Ceroid Lipofuscinosis ◽  
Tract Infections

The objective of this review is to summarize the pharmacology, efficacy, and safety of cerliponase alfa for the treatment of late infantile neuronal ceroid lipofuscinosis type 2 (CLN2). Cerliponase alfa is recombinant human tripeptidyl peptidase 1 enzyme replacement therapy. A phase 1/2 trial established the efficacy and safety of cerliponase alfa for treatment of neuronal ceroid lipofuscinosis type 2. Treatment with intracerebroventricular cerliponase alfa resulted in slower decline of motor and language functions compared with natural history controls. Common adverse events include convulsions, electrocardiography abnormalities, pyrexia, vomiting, and upper respiratory tract infections. Intracerebroventricular device–related adverse events also occur. Cerliponase alfa is the first therapy for neuronal ceroid lipofuscinosis type 2 that targets the disease etiology. Cerliponase alfa is effective in delaying the progression of motor language decline for patients with neuronal ceroid lipofuscinosis type 2.

Type 2 GM1 gangliosidosis and neuronal ceroid lipofuscinosis

Neurology ◽  
1982 ◽  
Vol 32 (5) ◽  
pp. 576-576
Author(s):  
J. A. Lowden ◽  
J. Callahan ◽  
R. Gravel ◽  
M. A. Skomorowski ◽  
L. Becker ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Gm1 Gangliosidosis ◽  
Ceroid Lipofuscinosis
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