Niemann-Pick disease type C-presenting as persistent neonatal jaundice: a rare case report

Jinka L. Narayana, Shaik M. Rafi, Uma M. Ramisetti, Kedarnath R. Tumati, Gangadhar B. Belavadi


Neimann-Pick disease (NPD) is an autosomal recessive lysosomal storage disorder caused by inherited deficiency of acid sphingomyelinase enzyme or its transport which leads to deposition of sphingomylin and cholesterol in the lysosomes of reticuloendothelial system. It is characterized by failure to thrive, hepatospleenomeagaly and neurodegenerative changes. There are four subgroups of neimann pick disease, type A, B, C and D. Here authors are reporting a case of 5 months old female child presenting with persistent jaundice since neonatal period, progressive abdominal distention and failure to thrive. On examination patient had significant abdominal distension with moderate hepatosplenomegaly. On laboratory evaluation child diagnosed to have NPD type C. This case emphasizes the need to keep NPD in differential diagnosis of children presenting with persistent neonatal jaundice, hepatosplenomegaly, failure to thrive.


Lipid storage disorder, Niemann-Pick disease, Persistent neonatal jaundice

Full Text:



Mane V, Joshi RT, Mane VP. Niemann pick disease-a case report. J Evol Medic Dental Sci. 2012;1(6):955-58.

Crocker AC, Farber S. Niemann-Pick disease: a review of eighteen patients. Medicine (Baltimore) 1958;37:1-95.

Alobaidy H. recent adavances in the diagnosis and treatment of Niemann Pick disease type C in children: A guide to early diagnosis for the general pediatrician. Int J Peaiatr. 2015;1-10.

Vanier. Niemann Pick disease type C. Orphanet J Rare Dis.2010,5:16.

Sutay NR, Choudhary D, Samariya P, Jha S, Gangul S. Niemann-Pick disease type B-a case report. JMSCR. 2017;5(4):19732-6.

Santos-Lozano A, GarcĂ­a DV, Sanchis-Gomar F, Fiuza-Luces C, Pareja-Galeano H, Garatachea N, et al. Niemann-Pick disease treatment: a systematic review of clinical trials. Annals Translational Med. 2015;3(22).

Tangde A, Pore S, Kulkarni A, Joshi A, Bindu R. Niemann-Pick disease type A-a case report. Int J Res Med Sci. 2018;6:366-9.

Walterfang M, Chien YH, Imrie J, Rushton D, Schubiger D, Patterson MC. Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat. Orphanet J Rare Dis. 2012;7(1):76.

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.Neurology:Clinical Pract. 2017;7(6):499-511.

Abela L, Plecko B, Palla A, Burda P, Nuoffer JM, Ballhausen D, et al. Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study. Orphanet J Rare Dis. 2014;9(1):176.

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.

Vanier MT, Latour P. Laboratory diagnosis of Niemann-Pick disease type C: the filippin staining test. Methods Cell Biol. 2015;126:357-75s.

Bounford KM, Gissen P. Genetic and laboratory diagnostic approach in Niemann Pick disease type C. J Neurol. 2014;261(2):569-75.