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

  • Jorge Zarco-Román Instituto Nacional de Pediatría
  • Alva Nydia García-Pérez Instituto Nacional de Pediatría
  • Paulina Andrade-Aldama Instituto Nacional de Pediatría
  • Luis Carbajal-Rodríguez Instituto Nacional de Pediatría
  • Raymundo Rodríguez-Herrera Instituto Nacional de Pediatría

Resumen

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
pathologies.
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.

Biografía del autor/a

Jorge Zarco-Román, Instituto Nacional de Pediatría
Attending internal medicine pediatrician assigned to the Internal Medicine service.
Alva Nydia García-Pérez, Instituto Nacional de Pediatría
Pediatrician, former resident.
Paulina Andrade-Aldama, Instituto Nacional de Pediatría
Pediatrician, former resident.
Luis Carbajal-Rodríguez, Instituto Nacional de Pediatría
Head of the Internal Medicine service.
Raymundo Rodríguez-Herrera, Instituto Nacional de Pediatría
Attending internal medicine pediatrician assigned to the Internal Medicine service.

Citas

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Publicado
2014-07-09
Cómo citar
Zarco-Román, J., García-Pérez, A., Andrade-Aldama, P., Carbajal-Rodríguez, L., & Rodríguez-Herrera, R. (2014). Niemann-Pick disease type B. Study of 3 cases and literature revision. Acta Pediátrica De México, 35(1), 30-37. https://doi.org/10.18233/APM35No1pp26-32
Sección
Artículo original