Niemann-Pick disease type B. Study of 3 cases and literature revision

Jorge Zarco-Román, Alva Nydia García-Pérez, Paulina Andrade-Aldama, Luis Carbajal-Rodríguez, Raymundo Rodríguez-Herrera


Objective: To describe the course of type B Niemann-Pick disease
(ENP-B) by following the evolution of three pediatric patients.
Methods: Three patients, two of them male, age between two
and eleven years, with type B Niemann-Pick disease were evaluated
periodically by physic exam and laboratory: hematologic
indices, lipid profile, hepatic function tests; Radiologic studies:
chest X-ray, abdominal ultrasound, cranial computed tomography,
echocardiogram. Histologic exams: hepatic biopsy, bone
marrow aspirate. We also obtained information on intercurrent
Results: Symptoms started at around 3 years (2-5 years) and
the diagnosis was made approximately at the age of 5 years
3 months (2-11 years), based on clinical findings suggestive
of ENP-B; on foam cells in bone marrow aspirate in the three
patients, in hepatic biopsy in two of them and in acid sphingomyelinase
determination in three. The coexistent conditions
were: hepatosplenomegaly in three; neurologic disorder in two;
bone disorder in one; pulmonary disorder in two; liver disorder
in three; affected hematological indices in three; lipid abnormalities
in three; cardiac involvement in one; ocular manifestations
in one; growth retardation in three. In none of the families were
detected consanguinity nor endogamy.
Conclusions: This study shows the multisystemic character and
the clinic variability in the type B Niemann-Pick disease, which
is mainly characterized by hepatosplenomegaly and liver dysfunction.
Patients have a progressive hypersplenism, atherogenic
lipid profile and gradual deterioration of pulmonary function,
among other systemic manifestations. To confirm the diagnosis
it is required to determine acid sphyngomyelinase. To date, there
are no useful biomarkers to evaluate the disease activity. Enzyme
replacement therapy is still on research.

Palabras clave

Niemann-Pick disease; cherry red maculae; hepatosplenomegaly; liver dysfunction;

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