Otorhinolaryngological, audiovestibular and swallowing manifestations of patients with Niemann–Pick disease Type C

Senirli, Rezarta Taga; Kuşçu, Oğuz; Akyol, Umut; Topçu, Meral; Yiğit, Öznur; Aksoy, Songül; Demir, Numan

doi:10.1016/j.ijporl.2015.11.009

Cited by 4 publications

(2 citation statements)

References 10 publications

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“…In the prospective study by McGovern et al involving 59 patients with Niemann-Pick type B, joint or limb pains accounted for 39% of physical signs [24]. However, involvement has not been reported in any cases of Niemann-Pick type C [32,33].…”

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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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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“…VFSS was systematically assessed with liquid, puree, and solid textures to determine swallowing physiology for safe nutritional intake. Swallowing was assessed utilizing 26 impairment-level parameters of oropharyngeal function (Additional file 1 : Table S1) [ 15 ]. Based on clinical VFSS findings, the SLP determined appropriate clinical management.…”

Section: Methodsmentioning

confidence: 99%

Phenotypic expression of swallowing function in Niemann–Pick disease type C1

Solomon

Muñoz

Sinaii

et al. 2022

Orphanet J Rare Dis

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Background Niemann–Pick disease type C1 (NPC1) is a rare autosomal recessive disease characterized by endolysosomal accumulation of unesterified cholesterol with progressive deterioration in swallowing, often leading to premature death. Although documented, the natural history of NPC1 swallowing dysfunction has yet to be delineated systematically. This manuscript aims to provide a comprehensive characterization of the phenotypic spectrum and progression of swallowing dysfunction in NPC1. Methodology The National Institutes of Health (NIH) NPC1 natural history study (NCT00344331) enrolled 120 patients, who underwent comprehensive interpretative swallow assessments for swallowing safety, dietary modifications, and aspiration risk. Longitudinal statistical modeling accounted for all outcomes with NPC1 disease covariates (first symptom onset, age at neurological symptom onset, seizure history, duration of neurological symptoms) as well as miglustat use (a glucosylceramide synthase inhibitor) and NIH study duration (NIHSD; the length of time an individual participated in the NIH study). Probabilities for disease progression and time to swallowing decline were conducted for the entire cohort. Results Time to swallowing decline with American Speech-Language-Hearing Association National Outcome Measure (ASHA-NOMS) and the NIH-adapted Penetration Aspiration Scale (NIH-PAS) were identified: $$\frac{7.7}{100}$$ 7.7 100 person-years and $$\frac{9.8}{100}$$ 9.8 100 person-years, respectively. NIHSD and seizure history consistently and significantly were associated with decline (ORNIHSD = 1.34–2.10, 95% CI 1.04–3.4, p = 0.001–0.026; ORSeizure = 3.26–18.22, 1.03–167.79; p = 0.001–0.046), while miglustat use revealed protection (ORMiglustat = 0.01–0.43, 0.007–0.98; p = 0.001–0.044). The probability of decline with NPC1 neurological severity scale and annual severity increment scale were established with the aforementioned covariates, varying amongst subgroups. Conclusion This study represents the most extensive collection of prospective, instrumental swallowing assessments in NPC1 to date with an interpretive analysis providing an improved understanding of NPC1 disease progression with swallowing function—serving as a foundation for clinical management and future NPC1 therapeutics.

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