Niemann-Pick Disease: An Approach for Diagnosis in Adulthood

Patiño-Escobar, Bonell; Solano, Marí­a Helena; Zarabanda, Laura; Casas, Claudia Patricia; Castro, Carlos M. de

doi:10.7759/cureus.4767

Cited by 5 publications

(5 citation statements)

References 12 publications

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“…Literature showed that patients may first present to general practitioners with nonspecific symptoms, the disease often remains undetected, or the diagnosis is made with a long delay [ 8 ]. Neurologic symptoms, which are typically characterized by hypotonia, seizures, and loss of deep tendon reflexes, are more common in cases of NPD type A and are not evident in other types [ 9 ]. While brain imaging is generally normal, which is the situation in our study case, distinctive findings include leukodystrophy, white matter signal hyperintensity in T2, and brain atrophy [ 10 ].…”

Section: Discussionmentioning

confidence: 99%

Novel Mutation in Chromosome 11p15.4 Causing Niemann-Pick Disease Type A in a Saudi Child

Al Shahrani,

Asiri,

Alqarni

et al. 2024

Cureus

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Niemann-Pick disease (NPD) encompasses a minimum of three lysosomal storage diseases, all of which are inherited in an autosomal recessive manner. Acid sphingomyelinase (ASM) deficiency is the cause of NPD types A and B. ASM is the enzyme that hydrolyzes the sphingolipid sphingomyelin. An 18-month-old patient with progressive painless abdominal distension with organomegaly and neurological deficits presented to our hospital. Brain imaging and laboratory findings did not show anything, but there was a millstone growth delay. The diagnosis of NPD type A was confirmed by a genetic examination, which revealed a twofold change on chromosome 11p15.4 in the region encoding the sphingomyelin phosphodiesterase-1 (SMPD1) gene. The patient was followed up with no specific treatment, and signs of respiratory infections were later reported.

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Section: Discussionmentioning

confidence: 99%

Novel Mutation in Chromosome 11p15.4 Causing Niemann-Pick Disease Type A in a Saudi Child

Al Shahrani,

Asiri,

Alqarni

et al. 2024

Cureus

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“…Onset age is typically in childhood. Until now, the adult form has only been described in types B and C [5,14,15,16].…”

Section: Discussionmentioning

confidence: 99%

Adult niemann-pick disease: A case report

Imane El Khannouri,

Mahjouba Baiya,

Ibtissam Mhirig

et al. 2024

GSC Adv. Res. Rev.

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Niemann-Pick disease (NP) is a rare lysosomal storage disorder, inherited in an autosomal recessive manner. It is a sphingomyelin-cholesterol lipidosis associated with the accumulation of foam cells. It is divided into two entirely distinct entities on metabolic, biochemical, and genetic levels: NP A/B and NP C. Diagnosis is established by clinical and biological presentation, notably through bone marrow examination (myelogram), and low enzymatic activity of acid sphingomyelinase for types A and B. Whereas for type C, the filipin test on cultured skin fibroblasts is no longer considered the gold standard; new diagnostic approaches are currently being investigated. Genetics remains highly preferred for diagnosis. Normal enzymatic levels do not exclude the diagnosis in the presence of a highly suggestive clinical phenotype. The aim of our study is to present the clinical, biological, histological, and radiological aspects of Niemann-Pick disease, in the context of a clinical case of a male patient hospitalized in the Hematology Department at Avicenne Military Hospital in Marrakech. We report the case of a 57-year-old patient, born of consanguineous marriage, with a personal history of appendectomy and a family history of a brother treated for and deceased from tuberculosis. The patient was admitted for progressive abdominal pain and left hypochondrial heaviness. Clinical examination revealed splenomegaly and osteoarticular pain on palpation, associated with nocturnal sweats evolving in the context of a general deterioration of health. The myelogram revealed numerous very large foam cells with cytoplasm filled with blue granulations stained by May Grunwald Giemsa (MGG), giving a characteristic "sea blue" appearance typical of Niemann-Pick disease. Biochemistry showed disrupted lipid profiles with collapsed HDL cholesterol in the absence of enzymatic alteration of acid sphingomyelinase. Histology revealed macrophage overload with foam-like cytoplasm appearing sea blue. Imaging confirmed nodular splenomegaly. With this data, the diagnosis of Niemann-Pick disease type B was made, despite the absence of enzymatic imbalance, which is only specific in cases of deficiency. This highlights the complexity of the diagnosis.Haut du formulaire Our study demonstrates that the myelogram is a crucial examination for the detection of Niemann-Pick disease. The normal enzymatic assay despite a typical phenotype of Niemann-Pick type B highlights the complexity of the diagnosis and the lack of specialized laboratories for these assays.

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“…Neurologic manifestations predominantly appear in NPD type A and are excluded in type B, often presenting with hypotonia, seizures, and loss of deep tendon reflexes [ 14 ]. Brain imaging is usually normal but it may show leukodystrophy, white matter signal hyperintensity in T2, or brain atrophy, which are the characteristic findings [ 6 ].…”

Section: Discussionmentioning

confidence: 99%

“…After that, DNA extraction and sequencing are performed for the mutational analysis of the SMPD1 gene. Due to its high specificity, it is the gold standard to confirm the diagnosis; however, it should never be the initial test [ 14 , 17 ].…”

Section: Discussionmentioning

confidence: 99%

Niemann-Pick Disease: A Case Report and Literature Review

Pinos¹,

Palacios²,

Arteaga³

et al. 2023

Cureus

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Niemann-Pick disease (NPD) A/B is a lysosomal storage disease (LSD), caused by an autosomal recessive disorder that causes variation in sphingomyelin phosphodiesterase-1 (SMPD1). Systemic signs are cholestatic jaundice in the neonatal period or hepatosplenomegaly in infancy. The clinical course experienced by our patient did not correspond to the classic phenotypes. The diagnosis was effectively made at four years and three months of age when different signs such as abdominal distension, hepatosplenomegaly, and chronic malnutrition were present. Given the high suspicion of metabolic storage disease, an enzyme activity study, liver and bone marrow biopsies, and molecular studies were performed. In the bone marrow biopsy, pseudo-Gaucher foam cells were observed. Additionally, the liver biopsy showed dispersed ballooned cells with deposit material and nested cells with granular material. The double enzymatic assay was ordered to determine if the cause of these findings was due to Niemann-Pick or Gaucher disease; decreased sphingomyelinase activity values were obtained (0.28 mcoml/L/h). Subsequently, the molecular genetics study reported a double alteration in the sequence that encodes the SMPD1 gene, located on chromosome 11p15.4, which confirmed NPD type A or B. The overlap and the lack of some findings made the diagnosis very difficult. Diagnosis is crucial due to the multisystem involvement that this LSD can have.

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Niemann-Pick Disease: An Approach for Diagnosis in Adulthood

Cited by 5 publications

References 12 publications

Novel Mutation in Chromosome 11p15.4 Causing Niemann-Pick Disease Type A in a Saudi Child

Novel Mutation in Chromosome 11p15.4 Causing Niemann-Pick Disease Type A in a Saudi Child

Adult niemann-pick disease: A case report

Niemann-Pick Disease: A Case Report and Literature Review

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