A morphologic assessment of bone marrow biopsy may be a valuable indicator of lysosomal storage disorders (LSDs), which include lysosomal acid lipase deficiency (LAL-D) and Pompe disease, when paired with associated clinical, hematological, and biochemical parameters, according to a study recently published in the Indian Journal of Pathology and Microbiology.

For the purpose of this retrospective study, the researchers reviewed the Hospital Information System to identify patients who were morphologically diagnosed with LSDs between January 2010 and December 2019.

After analyzing 32 bone marrow specimens, the study authors classified patients into 2 groups based on their cytomorphological features: Gaucher disease (GD) and Niemann-Pick (NP/NP-like) diseases. Next, they evaluated the associated clinical, hematological, and biochemical parameters.

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Most of the identified patients presented with failure to thrive and abdominal distension due to hepatosplenomegaly. Motoric developmental delay was observed in 8 cases of NP/NP-like diseases and 3 cases of GD. Neurological symptoms were recorded in 1 patient from each group.

There were no reports of respiratory pathology in the GD group, but 36.8% of the patients with NP/NP-like diseases exhibited pulmonary symptoms. “Cardiovalvular abnormality in the form of ostium secundum atrial septal defect” was found in 2 cases of NP/NP-like diseases.

The most common hematological findings in both groups were anemia and thrombocytopenia. Thrombocytopenia was seen more frequently in GD than in NP/NP-like diseases.  

Read more about LAL-D diagnosis

The metabolic profile assessment showed deranged liver function tests in 81.2% of all patients, while hypocalcemia was found in 25.0%. Total/direct bilirubin and liver enzymes were more often increased in patients with NP/NP-like diseases compared with patients with GD.

Of the 18 participants that underwent enzyme analysis, 11 had a deficiency of sphingomyelinase and were diagnosed with Niemann-Pick disease. The remaining 7 participants had decreased levels of beta-glucosidase and consequently suffered from GD. 

“The sporadic occurrence of LSDs along with their protean manifestations creates diagnostic dilemmas in the absence of mandatory tests,” Nishith and colleagues wrote. “The hallmark findings on bone marrow biopsy annexed with the comparative features of the two proposed categories can aid the clinician in clinching the diagnosis. Formulation of such a methodology will prove instrumental for patient care in an under-resourced setting.”

LSDs are rare conditions, often marked by unspecific symptoms. In cases of hepatosplenomegaly and cytopenias, a bone marrow examination is performed to rule out hematolymphoid disorders. 


Nishith N, Siddiqui SH, Raja SK R., et al. Utility of morphologic assessment of bone marrow biopsy in diagnosis of lysosomal storage disorders. Indian J Pathol Microbiol. Published online January 18, 2023. doi:10.4103/ijpm.ijpm_725_21