Diagnosis and Treatment Challenges of Niemann – Pick Disease, Type B: Clinical Case

Background. Niemann – Pick disease (NPD) is a rare autosomal recessive disease caused by acid sphingomyelinase deficiency and characterized by impaired intracellular lipids’ transport leading to accumulation of cholesterol and glycosphingolipids in the cells. Olipudase alfa was registered as the drug for enzyme replacement therapy in 2022. There are only two studies and one observation published on the results of its implementation in children. Olipudase alfa efficacy and safety have not been studied in Russian studies.

Clinical case description. Girl, 1 year 5 months old, was diagnosed with insufficient weight gain and dyspeptic syndrome. Subsequently the child was followed up with various gastroenterological diagnoses for 1.5 years. Diagnosis of NPD type B was established at the age of 3 years 4 months, it was confirmed by revealing acid sphingomyelinase activity decrease to 0.11 mmol/l/h and nucleotide variant in the SMPD1 gene. Therapy with olipudase alfa was initiated at the age of 3 years 10 months with increasing dosage (from 0.03 mg/kg to therapeutic — 3 mg/kg of body weight, 11 injections in total), intravenously, drop infusion, once in 2 weeks. Clinical progression of the disease has stopped (with persistent hepatosplenomegaly), positive changes in laboratory parameters of the disease activity were revealed (with persistence of high (66 U/L) aspartate aminotransferase activity), and increasing of body weight (however, physical development remains below average, –1 to –2 SD) was noted within 24 weeks of therapy.

Conclusion. The combination of hepatosplenomegaly, increased transaminase activity and cholesterol levels, gastroenterological symptoms, and insufficient body weight gain should rise doctors’ awareness of orphan disease in a child. Timely diagnosis of NPD is crucial for early enzyme replacement therapy initiation (that is currently available). We have shown that olipudase alfa can help us to maintain child’s vital activity, to achieve positive clinical and laboratory dynamics, and to reach slow recovery of the child’s physical development.

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