Atypical clinical presentation of acid sphingomyelinase deficiency in a pediatric patient: a case report
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Abstract
Background: Acid sphingomyelinase deficiency enzyme (ASMD), also known as Niemann-Pick disease (NP) types A/B, is a rare condition caused by mutations in the chromosome 11, SMPD1 gene, affecting both children and adults. Due to the inherited deficiency in the activity of acid the sphingomyelinase enzyme, there is an accumulation of sphingomyelin in the cellular reticuloendothelial system of different tissues, culminating in hepatosplenomegaly and involvement of the pulmonary parenchyma, especially in individuals with NP-B. This report aimed to present the case of an adolescent with NP-B with a more attenuated phenotype of the disease, emphasizing the challenges for the clinical and laboratory diagnosis of less aggressive forms of the disease. Case report: A 3-year-old
male patient presented with hepatosplenomegaly and frequent respiratory crises, followed by recurrent lower airway infection. Image evaluation showed signs of pulmonary involvement. The patient was referred to a medical genetics’ unit, where an investigation
of lysosomal storage diseases was performed. Discussion: The association of hepatosplenomegaly with recurrent respiratory crises are indicative of NP-B. An early diagnosis leads to an improvement in the quality of life of the patients and a significant reduction in the risk of future cardiovascular complications. This case contributed to
increasing disease awareness among clinical pediatricians and other healthcare professionals.
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