Niemann-Pick Disease Type C Initially Misdiagnosed as Gaucher Disease in a 6 Year Old Kazakh Girl

Isr Med Assoc J. 2017 Apr;19(4):262-264.

Authors

Altynshash Jaxybayeva¹, Raushan Kenzhegulova¹, Lyazzat Baygazyieva¹, Francesca Cainelli², Sandro Vento^{2

3}

Affiliations

¹ Department of Neurology, National Research Center for Maternal and Child Health.
² Department of Medicine, Nazarbayev University.
³ University Medical Center, Astana, Kazakhstan.

PMID: 28480683

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Bone Marrow / pathology
Brain / diagnostic imaging*
Carrier Proteins / genetics*
Child, Preschool
Diagnosis, Differential
Diagnostic Errors / prevention & control*
Female
Gaucher Disease / diagnosis*
Humans
Intracellular Signaling Peptides and Proteins
Magnetic Resonance Imaging / methods
Membrane Glycoproteins / genetics*
Mutation
Neurologic Examination / methods
Niemann-Pick C1 Protein
Niemann-Pick Disease, Type C / diagnosis*
Niemann-Pick Disease, Type C / genetics
Niemann-Pick Disease, Type C / physiopathology*
Sphingomyelin Phosphodiesterase / analysis*
Splenomegaly / diagnostic imaging
Splenomegaly / etiology
Symptom Assessment / methods

Substances

Carrier Proteins
Intracellular Signaling Peptides and Proteins
Membrane Glycoproteins
NPC1 protein, human
Niemann-Pick C1 Protein
Sphingomyelin Phosphodiesterase