A Rare Case of Late Adult-Onset Niemann-Pick Disease Type C

Kim, Ryul; Yoo, Dallah; Park, Sang Min; Shin, Jung Hwan; Choi, Ji-Hyun; Kim, Han Joon; Jeon, Beomseok

doi:10.14802/jmd.19077

Cited by 3 publications

(2 citation statements)

References 7 publications

(17 reference statements)

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“…2 Although usually these symptoms begin before the fourth decade, 2 the first symptoms in our patients presented in the fifth and sixth decades, respectively, which is extremely rare. 3,14 To the best of our knowledge, patient 2 is only the third case to be reported with age of onset at or after 55 years old 14,15 and only the second case to be reported with an age of diagnosis after 65 years old. 16 Both of our patients had a delay in diagnosis of 13 years, which is similar to prior reports in patients with NPC diagnosed >50 years of age, with a median delay in diagnosis of 13.25 years.…”

Section: Discussionmentioning

confidence: 90%

“…16 Both of our patients had a delay in diagnosis of 13 years, which is similar to prior reports in patients with NPC diagnosed >50 years of age, with a median delay in diagnosis of 13.25 years. 3,[14][15][16][17][18][19] For patients with a clinical profile suggesting NPC, oxysterols are the most widely used biomarkers with good accuracy. Plasma cholestane-3β,5α,6β-triol, 7-ketocholesterol are elevated, with cholestane-3β,5α,6β-triol being the preferred oxysterol biomarker because of its high specificity and sensitivity for NPC.…”

Section: Discussionmentioning

confidence: 99%

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Two Patients with Niemann Pick Disease Type C Diagnosed in the Seventh Decade of Life

Čėponiené

Bayram

et al. 2020

Movement Disord Clin Pract

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Background Background: Niemann-Pick disease type C (NPC) is a rare, autosomal recessive lysosomal lipid storage disorder. It may present with cerebellar ataxia, vertical supranuclear gaze palsy, and cognitive impairment, and the age of symptom onset in adult-onset NPC is usually earlier than the fourth decade. Cases Cases: We present 2 patients with adult-onset NPC diagnosed in the seventh decade of life. The slow motor progression and subtle findings of supranuclear vertical gaze palsy and ataxia can lead to a delayed diagnosis and misdiagnosis with parkinsonian disorders, particularly progressive supranuclear palsy. Conclusion Conclusion: This report highlights and differentiates key clinical characteristics between NPC and parkinsonian disorders. It is important to consider NPC in the differential diagnosis when patients present with slowed vertical saccades, vertical supranuclear gaze palsy, ataxia, and cognitive impairment present at any age. This will allow appropriate and prompt treatment with miglustat and novel experimental therapies.

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Section: Discussionmentioning

confidence: 90%

Section: Discussionmentioning

confidence: 99%

Two Patients with Niemann Pick Disease Type C Diagnosed in the Seventh Decade of Life

Čėponiené

Bayram

et al. 2020

Movement Disord Clin Pract

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Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature

Sheth,

Nair,

Bhavsar

et al. 2024

JIMD Reports

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Lysosomal storage disorders (LSDs) in adults have milder phenotype and variable age at presentation. Several studies have described the phenotype, genotype and treatment outcomes for adult‐onset LSDs like Gaucher, Fabry, Pompe disease and others. We describe the first systematic study on the occurrence of LSDs in an adult population from India. It describes, the key clinical signs seen in these patients and those from literature review that can aid in early detection. Of 2102 biochemically diagnosed LSDs cases, 32 adult patients were identified with LSDs. Based on the clinical suspicion, screening test and enzyme study was carried out. Twenty‐two patients were subjected to a genetic study to identify the causative variant in a respective gene. Of the 32 adult patients, we observed a maximum percentage of 37.5% (n = 12) cases with Gaucher disease, followed by 13% (n = 4) with Fabry disease. We found 10% of cases with MPS IVA and MPS I, and 9% cases with Pompe. Single case of adult mucolipidosis III and two cases each of Type 1 Sialidosis, Niemann‐Pick disease B and metachromatic leukodystrophy were identified. We observed two common variants p.Leu483Pro and p.Ala487Thr in the GBA1 gene in 23% of Indian patients with adult Gaucher disease. No common variants were observed in other aforementioned LSDs. Study identified 50% of Fabry patients and 4% of Gaucher patients diagnosed at our centre to be adults. The prevalence of adult Pompe patients was low (3.4%) as compared to 80% reported in the Caucasian population. Adult LSDs such as, MPS III, GM1/GM2 gangliosidosis and Krabbe disease were not identified in our cohort.

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Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience

et al. 2022

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A Rare Case of Late Adult-Onset Niemann-Pick Disease Type C

Cited by 3 publications

References 7 publications

Two Patients with Niemann Pick Disease Type C Diagnosed in the Seventh Decade of Life

Two Patients with Niemann Pick Disease Type C Diagnosed in the Seventh Decade of Life

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature

Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience

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