Clinical analysis of two patients with Niemann-Pick disease
Objective To analyze the clinical data of Niemann-Pick disease(NPD)in two children(type B in 1 case and type C1 in 1),and to investigate the bone marrow cell morphology and genetic features.Methods Two children with NPD were diagnosed and treated in the Third Affiliated Hospital of Zhengzhou University from September 2021 to January 2022.The clinical manifestation,enzymaitc testing,ultrasound examination of liver,gallbladder,pancreas and spleen,bone marrow aspiration,genetic testing results,and diagnosis,treatment and outcome were analyzed.Results Two children consulted for respiratory symptoms,with no neurologic symptoms.The physical examination and ultrasonic examination revealed hepatosplenomegaly,and the bone marrow smear showed foam cells.In patient 1,the serum acid sphingomyelinase level decreased,and complex heterozygous mutations in SMPD1 gene c.7delC(p.Arg3Alafs*74)and c.926T＞C(p.Leu309Pro)were obtained from her parents,respectively,which were associated with the NPD-B type.In patient 2,the serum acid sphingomyelinase level was normal,and complex heterozygous mutations in NPC1 gene c.2336dupT(p.Val780Argfs*9)and c.269C＞G(p.Pro90Arg)were obtained from her parents,respectively,which were associated with the NPD-C1 type.The final diagnoses of patient 1 and 2 were NPD-B and NPD-C1,respectively.Patient 1 was subjected to partial splenectomy and subsequent allogeneic umbilical cord blood stem cell transplantation 3 months after surgery.Hepatosplenomegaly was controlled,the intelligence and motor development were basically normal,and there were no neurologic symptoms at one-year follow-up after transplantation.Patient 2 was given miglustat capsules after diagnosis.Hepatosplenomegaly was controlled,the intelligence was normal,the motor development was delay,and there were no other neurologic symptoms at two-year follow-up after medication.Conclusions NPD should be vigilant in children with unexplained hepatosplenomegaly,and enzymatic testing,bone marrow aspiration and genetic testing should be performed as soon as possible.Bone marrow foam cell is an important diagnostic clue for NPD,and the diagnosis requires genetic and enzymatic testing.
NETL
NSTL
万方数据
