British Journal of Radiology 74 (2001),1059-1061 © 2001 The British Institute of Radiology
Imaging of pulmonary manifestations in subtype B of Niemann–Pick disease
F Duchateau, MD,
S Dechambre, MD and
E Coche, MD
Department of Medical Imaging, Université Catholique de Louvain, Cliniques Universitaires Saint Luc, B-1200 Brussels, Belgium
Correspondence: E Coche, MD
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Abstract
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We report the radiological and high resolution CT (HRCT) findings of the pulmonary involvement in a case of subtype B Niemann–Pick disease, diagnosed in an asymptomatic 22-year-old man, which was proved by bone marrow biopsy and sphingomyelinase assessment. In the present case, HRCT showed smooth interlobular septa thickening and a subtle ground-glass pattern.
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Introduction
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Niemann–Pick disease is a rare inherited phospholipid metabolism disease. This lipid storage disease is caused by sphingomyelinase deficiency, which leads to accumulation of sphingomyelin in various sites, with variable prognosis according to the organs involved. The case presented here corresponds to the subtype B, characterized by a chronic visceral form without neurological deficit.
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Case report
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A 22-year-old man was admitted to hospital because of acute herpetic stomatitis. Physical examination showed marked splenomegaly and slight hepatomegaly. Cardiovascular and neurological examinations were normal. No respiratory symptoms or abdominal pain were noted. Funduscopy was normal.
There were low platelet and white blood counts, being 129 000 mm-3 and 2140 mm-3, respectively. Liver function tests were normal.
Ultrasound examination confirmed marked splenomegaly (23 cm) and moderate hepatomegaly (19 cm). The chest radiograph showed subtle bilateral basal Kerley B lines (Figure 1
). The cardiothoracic index was normal. Pulmonary function tests were within normal limits. High resolution CT (HRCT) of the chest showed smooth thickening of the interlobular septa without nodularity. Subtle ground-glass opacities were seen in the lower lobes (Figure 2). There was no mediastinal lymph adenopathy.
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Figure 2. High resolution CT at the level of the lower lobes demonstrates smooth thickening of interlobular septa (arrow) and subtle ground-glass opacities (arrowhead).
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Bone marrow biopsy showed infiltration by numerous histiocytes (Figure 3a). Some of the histiocytes contained vacuolated cytoplasm whilst others contained granules that stained deep blue with May–Grünwald–Giemsa stain ("sea blue histiocytes") (Figure 3b). This histological pattern was indicative of Niemann–Pick disease. Confirmation of this diagnosis was obtained by lysosomial enzyme assay assessment on buffy coat that showed undetectable sphingomyelinase activity.
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Figure 3. (a) Microscopy of the bone marrow biopsy showing infiltration by histiocytes with vacuolated cytoplasm. (b) There are numerous histiocytes containing granules that stained blue with May–Grünwald–Giemsa stain ("sea blue histiocytes").
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Discussion
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Niemann–Pick disease is an inherited autosomal recessive disorder characterized by an accumulation of sphingomyelin resulting from a deficiency in production of sphingomyelinase. The excessive sphingomyelin is deposited in the liver, spleen, lungs, bone marrow or brain. Five clinical forms of the disease are defined in the Crocker classification according to the predominant organs affected [1, 2]. Clinical severity is variable according to subtype and depends essentially on the degree of neurological involvement.
The case reported here corresponds to subtype B of the disease, which is characterized by a chronic visceral involvement. The nervous system is not affected in this subtype. Symptoms of subtype B appear to remain generally slight over along period, with the late development of a restrictive ventilatory defect. Diagnosis can be made in childhood or adulthood by finding hepatosplenomegaly or chronic interstitial pattern on chest radiographs [3].
The radiological appearance of this affection is non-specific, consisting classically of a diffuse reticulonodular pattern formed by nodular opacities and reticular linear strands that can create a honeycomb pattern [2].
HRCT findings have been described recently in one clinical case [4]. The HRCT pattern consisted of a thickening of the interlobular septa without nodularity, mainly predominant in the lower parts of the lungs, associated with ground-glass opacities that predominated in the upper and middle pulmonary zones.
The changes result microscopically from an accumulation of lipid-storing foam histiocytes without granuloma formation within the interlobular septa or alveolar spaces [4]. Such HRCT findings remain non-specific and the differential diagnosis includes pulmonary oedema, lymphangitic spread of lymphoma or less frequently of carcinoma, alveolar proteinosis and interstitial infiltration associated with amyloidosis. Association of splenomegaly or hepatomegaly should suggest the diagnosis of a storage disease. The diagnosis of Niemann–Pick disease needs to be confirmed by liver or bone marrow biopsy, and sphingomyelinase activity evaluated by enzyme assay [5].
Received for publication March 19, 2001.
Revision received June 29, 2001.
Accepted for publication July 4, 2001.
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References
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Crocker AC, Farber S. Niemann–Pick disease: a review of 18 patients. Medicine 1958;37:1–98.[Medline]
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Lachman R, Crocker A, Schulman J, Strand R. Radiological findings in Niemann–Pick disease. Radiology 1973;108:659–64.[Medline]
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Coussement A, Aiem A, Forderer A, Albertini M. The pure visceral form of Niemann–Pick disease in childhood. Review of the literature and report of a case. J Radiol 1988;69:783–5.[Medline]
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Ferretti GR, Lantuejoul S, Brambilla E, Coulomb M. Pulmonary involvement in Niemann–Pick disease subtype B: CT findings. J Comput Assist Tomogr 1996;20:990–2.[Medline]
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Muntaner L, Galmés A, Chabas A, Herrera M. Imaging features of type-B Niemann–Pick disease. Eur Radiol 1997;7:361–4.[Medline]
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Abstract
Introduction
