Background: Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lysosomal storage disorder resulting from mutations in either the NPC1 or the NPC2 gene. It shows a broad spectrum of clinical phenotypes and a variable age at diagnosis. As most patients have normal routine examinations (MRI, cerebrospinal fluid, electrophysiology, and so on), its diagnosis is often a challenge, and the start of treatment delays for several years. Case Report: We reported a 9-year-old boy who presented with Stuttered speech, hepatosplenomegaly, and up and downward gaze palsy whose Niemann Pick disease was not diagnosed during infancy due to unawareness. Dried blood spot assay and genetic study confirmed the diagnosis of Niemann Pick disease type C. Conclusion: Due to the high rate of consanguineous marriages and NPC presentation with atypical phenotypes, more educational programs for pediatricians, hematologists, neurologists, endocrinologists, and clinicians help the appropriate and timely diagnosis and prevent another involved sibling.
Patiño-Escobar B, Solano MH, Zarabanda L, Casas CP, Castro C. Niemann-pick disease: An approach for diagnosis in adulthood. Cureus 2019; 11(5): e4767.
Vanier MT. Niemann-pick disease type C. Orphanet J Rare Dis 2010; 5: 16.
NP-C Guidelines Working Group, Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab 2009; 98(1-2): 152-65.
Rodrigues AF, Gray R, Preece M, Brown R, Hill F, Baumann U, et al. The usefulness of bone marrow aspiration in the diagnosis of Niemann–Pick disease type C in infantile liver disease. Arch Dis Child 2006; 91(10): 841-4.
Guertl B, Noehammer C, Hoefler G. Metabolic cardiomyopathies. Int J Exp Pathol 2000; 81(6): 349-72.
Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, et al. Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis 2018; 13(1): 50.
Masserrat A, Sharifpanah F, Akbari L, Tonekaboni SH, Karimzadeh P, Asharafi MR,et al. Mitochondrial G8292A and C8794T mutations in patients with Niemann‑Pick disease type C. Biomed Rep 2018; 9(1): 65-73.
Patterson MC, Clayton P, Gissen P, Anheim M, Bauer P, Bonnot O, et al. Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. Neurol Clin Pract 2017; 7(6): 499-511.
Fancello T, Dardis A, Rosano C, Tarugi P, Tappino B, Zampieri S, et al. Molecular analysis of NPC1 and NPC2 gene in 34 Niemann–Pick C Italian patients: identification and structural modeling of novel mutations. Neurogenetics 2009; 10(3): 229-39.
Amirkashani, D., & Edalatkhah, R. (2021). Unawareness; The Reason of Delayed Diagnosis of Niemann Pick Disease Type C and the Birth of Another Involved Sibling. Journal of Integrated Maternal and Pediatric Care, 4(2), 130-133. https://doi.org/10.18502/wjpn.v4i2.8651
MLA
Amirkashani, D., & Edalatkhah, R. "Unawareness; The Reason of Delayed Diagnosis of Niemann Pick Disease Type C and the Birth of Another Involved Sibling", Journal of Integrated Maternal and Pediatric Care, 4, 2, 2021, 130-133. doi: 10.18502/wjpn.v4i2.8651
HARVARD
Amirkashani D., Edalatkhah R. (2021). 'Unawareness; The Reason of Delayed Diagnosis of Niemann Pick Disease Type C and the Birth of Another Involved Sibling', Journal of Integrated Maternal and Pediatric Care, 4(2), pp. 130-133. doi: 10.18502/wjpn.v4i2.8651
CHICAGO
D. Amirkashani & R. Edalatkhah, "Unawareness; The Reason of Delayed Diagnosis of Niemann Pick Disease Type C and the Birth of Another Involved Sibling," Journal of Integrated Maternal and Pediatric Care, 4 2 (2021): 130-133, doi: 10.18502/wjpn.v4i2.8651
VANCOUVER
Amirkashani D., Edalatkhah R. Unawareness; The Reason of Delayed Diagnosis of Niemann Pick Disease Type C and the Birth of Another Involved Sibling. J Integr Matern Pediatr Care. 2021;4(2):130-133. doi: 10.18502/wjpn.v4i2.8651
Journal of Integrated Maternal and Pediatric Care