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+Our patient was a 7-year-old Italian boy born after an uneventful gestation of normal duration.
+At the age of 16 months, he presented with a clinically evident enlarged abdomen and was referred for oncological examination.
+Initial tests revealed anemia, thrombocytopenia, and splenomegaly.
+A bone marrow biopsy revealed the presence of foam cells, which led to suspicion of lysosomal storage disease.
+Biochemical testing revealed elevated level of acid phosphatase (47.8 IU/L [normal range 5–7 IU/L]) and chitotriosidase activity (508 nmol/mg protein [normal range 5.9–41.0 nmol/mg protein]), as well as reduced beta-glucosidase activity (2 nmol/mg/protein [normal range 4.5–18.0 nmol/mg/protein]).
+Molecular analysis showed homozygous L444P mutations in the GBA gene (OMIM reference 606463), confirming the diagnosis of chronic NGD.
+The patient began ERT at a dosage of 60 U/kg every 2 weeks at the age of 18 months.
+Thereafter, when the patient reached the age of 30 months, we decided to combine ERT with SRT with miglustat.
+This clinical decision was approved by our institution’s ethics committee, and informed consent was obtained from the patient’s parents before commencing combination therapy.
+The dose of miglustat was adjusted according to the patient’s body surface area and was uptitrated during the first 4 weeks with the following scheme: one-third of target dose during weeks 1 and 2, two-thirds of target dose during weeks 3 and 4, and target dose (100 mg three times daily) after 1 month.
+From 2 weeks before starting miglustat therapy, the patient also followed specific dietary modifications, avoiding high intake of carbohydrate-containing food in single meals, especially foods high in disaccharides, such as sucrose and maltose, to ensure acceptable gastrointestinal tolerability.
+He experienced mild episodes of diarrhea after commencing miglustat therapy, which decreased in frequency/severity over time.
+From the start of ERT/miglustat combination treatment, we observed a reduction in splenomegaly and a gradual normalization of hematological values and plasma angiotensin-converting enzyme activity (Table 1).
+Plasma chitotriosidase was evaluated at the time of diagnosis and then approximately every 6 months during follow-up.
+Values showed an initial reduction after the start of ERT, with a further, substantial, and sustained decrease after commencement of miglustat treatment (Fig.1).
+The patient has been followed according to recommended guidelines for GD, which specify a complete neurological examination, clinical evaluation of ocular movements, and psychological evaluations every 6–12 months [10].
+After 5 years of combination therapy and follow-up, the patient did not show any signs of neurological impairment.
+As of February 2016, he had not displayed any epileptic crises and had demonstrated clinical performance and cooperation.
+He showed good muscular tone and trophism, normal reflexes with a slight hyperreflexia in his legs, and a negative Romberg sign.
+His toe and heel deambulation was normal.
+In particular, ocular evaluations revealed no evidence of saccadic movement velocity reduction and normal visual evoked potentials.
+The patient’s auditory brain responses were also normal.
+In addition, he has not demonstrated any cognitive impairment, and he has regularly attended school with good performance since the age of 5 years.