DOI: https://dx.doi.org/10.18203/2349-3291.ijcp20221860
Published: 2022-07-25

Clinical spectrum of lysosomal storage disorders in children

Pushpalatha Kariyappa, Dakshayani Manjunath, Sushmitha Sarode, Udayakumar SSeetharam Rao

Abstract


Lysosomal storage diseases (LSDs) are inherited metabolic diseases that are characterized by the accumulation of various toxic metabolites as a result of enzyme deficiencies. LSDs comprises of more than 50 diseases and are classified on a biochemical basis and the type of accumulated substrate. Most of the LSDs are inherited as autosomal recessive disorders with a few exceptions. Gaucher disease is the most common LSD. Clinical presentation of these children usually includes- anaemia, easy bruising, abnormally enlarged liver and/or spleen. We report a case series of 12 children with LSD. Among them 9 (75%) with GD, 3 (25%) with MPS.  Based on the symptoms, in reducing order of frequency, children presented with generalised weakness, growth failure, abdominal distension, and developmental delay. 3 children with MPS had coarse facial features with reduced joint movements and hearing impairment. On examination, 5 children (41.6%) weighed less than third percentile, 9 (75%) had short stature, 10 (83%) had moderate to severe visceromegaly, CNS involvement in 2 children seen as hypotonia, occulomotor apraxia. Hematological parameters in all revealed- anaemia/leucopenia/thrombocytopenia- with two or more of the cell lines being affected. Bone marrow biopsy done in 9 (75%) children all of which were abnormal. Most of the children had enzyme activity levels between 0 to less than 15% of the normal reference range of the respective enzyme. ERT was initiated in 9 children (7 GD children and 2 MPS child) and followed up, showed a gradual amelioration in the symptoms by 1 year of regular ERT.


Keywords


Lysosomal storage disorder, Clinical features, Enzyme replacement therapy

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