Objective: Niemann-Pick type B (NPB) is a rare, autosomal dominant hereditary disorder. Clinical presentation is primarily visceral. Neurological manifestations are rare, unlike in other types of NP (C, D, E) (1).The aim of our study is to draw clinicians’ attention to this disease in cases of unexplained parkinsonism.

Background: NPB is a rare lysosomal storage disorder. It is caused by a total or partial deficiency of sphingomyelinase, leading to an accumulation of sphingomyelin in the reticuloendothelial system. It characterized by thrombocytopenia with hepatosplenomegaly, interstitial lung disease, and dyslipidemia. Diagnosis is based on demonstrating the acid sphingomyelinase enzyme deficiency and identifying a mutation in the SMPD1 gene (1),(2),(3).

Neurological involvement has never been reported as a presenting symptom in this disease; It is extremely rare and less severe compared to other types of the NP (<10%) (1),(4),(5).We report the first clinical case with initial neurological involvement.

Method: We report the case of a 54-year-old patient who presented with progressive axial rigidity and motor slowing over the previous four years (at age 50), associated with unexplained asthenia.Neurological examination revealed a predominantly axial parkinsonian syndrome with limited upward gaze, resistant to dopamine.

Results: The brain MRI was unremarkable.Abdominal ultrasound revealed hepatosplenomegaly.

The chest CT scan showed bilateral pulmonary interstitial syndrome with a focus of subsegmental bronchiectasis in the middle lobe.

Pancytopenia with hypertriglyceridemia was also present.

The lyso-SPM level was elevated: 263.4 ng/ml (normal value <70).Genetic testing revealed a homozygous mutation in the c1829_1831dl gene (pArg610del).

Conclusion: The diagnosis of late-onset Niemann-Pick disease was considered given the association of hepatosplenomegaly, pulmonary involvement, and the age of onset. However, neurological involvement is rare in MPB (5), and parkinsonism has never been reported in the various publications as a presenting sign. 

NPB is a rare condition often presenting with chronic visceral signs (liver, spleen, and lungs) (6), (7) without major neurological involvement, allowing survival into adulthood. Neurological involvement is rare in this disease, but it can be the initial presentation in late-onset forms, hence the importance of a comprehensive multisystem workup in the presence of an unexplained parkinsonian syndrome.

References: (1) Madame Asmae CHERKAOUI LAAZIZI. Maladie de Niemann-pick type B à propos de 4 cAs et revue de la littérature. Thèse pour Pour l’Obtention du Diplôme de Docteur en Médecine.2021.
(2) Rita Gonçalves Simões, Helena Maia. Niemann-Pick type B in adulthood. Simões RG, et al. BMJ Case Rep 2015. doi:10.1136/bcr-2014-208286
(3) Sinan Demircioğlu1*, Celalettin Korkmaz2, Hilal Akay Çizmecioğlu3 , Necdet Poyraz4. Niemann-pick type b disease diagnosed in the adulthood. East J Med 23(4): 322-324, 2018
DOI: 10.5505/ejm.2018.19484.
(4) Yukuo konishi, 1’* kaoru konishi, tm teizo tomisawa, 1 toru momoi, 2 Masakatsu stjdo, ~ eiji yamada, 3 and fumitada hazama. A report of a patient with niemann-pick,Disease type b and a review of the Patients in japan. Jpn. J, Human Genet. 26, 207-215, 1981.
(5) Jacqueline Imrie SRN RSCN MSc.Clinical Nurse Specialist Niemann-Pick diseases. A guide to ASMD Niemann-Pick disease types A and B Understanding acid sphingomyelinase defi cient Niemann-Pick disease types A and B and their potential treatment. Niemann-Pick Disease Group (UK).11 Greenwood Close. Fatfield. Washington. NE38 8LR.
(6) A. Hervé1, S. Marchand-Adam1,5, A. Fabre2, 5, M.-P. Debray3, D.-P. Germain4, B. Crestani1, 5, M. Aubier1, 5. Maladie de Niemann-Pick de type B révélée par une atteinte bronchopulmonaire. © 2008 SPLF. Édité par Elsevier Masson SAS.
(7) I. Tlamc¸ani ∗, S. Benjelloun , G. Yahyaoui , N. Benseddik , M.H. Amrani. Niemann-Pick disease type B revealed by sea blue histiocytes:A case report.

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