Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder
Abstract
:1. Introduction
2. Background
3. Morphological and Clinical Aspects of Sialidosis and NEU1 Mutation(s)
3.1. Method of Study Selection, Criteria, and Data Extraction
3.2. Sialidosis I
Atypical Cases of Sialidosis I
3.3. Sialidosis II
4. Therapeutic Interventions for Sialidosis
5. Conclusions and Future Perspectives
Conflicts of Interest
References
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References (Name of the First Author) | Gender | General Presentation | Nervous System | Ophthalmologic Findings | Skeleton | Respiratory Distress/Infections | Renal Involvement | Cardiac Involvement | Others | Course of Disease |
---|---|---|---|---|---|---|---|---|---|---|
Kelly, T.E. [23] | F | Ascites, edema, hepatosplenomegaly course features | n/r | n/r | Dysostosis multiplex | n/r | n/r | Cardiac anomalies | n/r | Exitus at 26 months |
Riches, W.G. [24] | F | Hydrops, ascites, hepatosplenomegaly | n/r | n/r | n/r | n/r | n/r | n/r | n/r | Exitus at 4 months |
Gillan, J.E. [25] | M | Hydrops, ascites, edema, hepatosplenomegaly course features | n/r | n/r | n/r | n/r | n/r | n/r | n/r | Exitus at 3 days |
Beck, M. [26] | F | Hydrops, ascites, edema, hepato-splenomegaly, coarse features | n/r | n/r | n/r | present | present | n/r | n/r | Exitus at 6 months |
Guibaud, P. [27] | F | Hydrops, ascites, edema, hepato-splenomegaly, coarse features | n/r | Corneal clouding | Dysostosis multiplex | n/r | n/r | n/r | n/r | n/r |
Johnson, W.G. [28] | M M F F | Hydrops, Ascites, edema | Seizures | n/r | n/r | n/r | n/r | n/r | Telangiectasia | stillborn, 1 month, 3 months, alive 3 months |
Yamano, T. [29] | M | Hydrops, ascites, edema, hepato-splenomegaly | n/a | no | no | n/a | n/a | n/a | n/a | Exitus at 56 days |
Tabardel, Y. [30] | n/r | Hydrops, ascites, coarse features, hepatosplenomegaly | n/r | n/r | n/r | n/r | n/r | Cardiac anomalies | Petechiae | n/r |
Ries, M. [31] | n/a | hydrops, ascites | n/r | Cherry red spots | n/r | n/r | n/r | n/r | n/r | Exitus at 28 days |
Lukong, K.E. [9] | F | hydrops | n/r | n/r | n/r | n/r | n/r | n/r | n/r | Exitus at 82 days |
Nakamura, Y. [32] | F | Ascites, coarse features, hepato-splenomegaly, inguinal hernia | Psychomotor retardation | n/r | Dysostosis multiplex | n/r | n/r | Cardiac anomalies | n/a | At the age of 2 months, patient was alive |
Schmidt, M. [33] | F | Hydrops, ascites, edema, hepato-splenomegaly | Seizures | n/r | n/r | n/r | present | n/r | n/r | Exitus at 5 months |
Ovali, F. [34] | M | Hydrops, ascites, coarse features, hepato-splenomegaly, inguinal hernia | n/r | n/r | n/r | n/r | present | n/r | n/r | Exitus at 27 days |
Sergi, C. [35] | M | Hydrops, ascites, coarse features, hepato-splenomegaly, inguinal hernia | n/r | Corneal clouding | n/r | n/r | n/r | n/r | n/r | Exitus at 28 days |
Sergi, C. [36] | M | Hydrops, edema ascites, hepato-splenomegaly | n/r | n/r | n/r | n/r | present | n/rn/r | n/r | Exitus at 2 months |
Buchholz, T. [37] | M | Hydrops, edema ascites, hepato-splenomegaly | n/a | n/a | n/a | present | n/a | Cardiac anomalies | Telangiectasia Hypotonia | Exitus at 82 days |
Uhl, J. [38] | M M | Hydrops, edema, ascites in both patients | n/a | n/a | n/a | n/a | n/a | n/r | Polydactyly in patient 1 | n/a |
Donati, M.A. [39] | F | Hydrops, ascites, edema, coarse features, hepato-splenomegaly, Inguinal hernia | Psychomotor retardation, Hydrocephalus | yellow/rretina | Dysostosis multiplex | present | present | Cardiac anomalies | Telangiectasia Hypotonia, Petechiae | Exitus at 19 months |
Penzel, R. [40] | F | Hydrops, ascites, edema | Seizures | n/r | n/r | n/r | n/r | n/r | n/r | n/r |
Itoh, K. [41] | M | Hydrops, ascites, edema, hepato-splenomegaly | n/r | n/r | n/r | n/r | n/r | n/r | n/r | Exitus at 27 days |
Rodriguez Criado, G. [42] | M | Hydrops, coarse features, hepatosplenomegaly | Psychomotor retardation | n/r | Dysostosis multiplex | n/r | n/r | Cardiac anomalies | Hypotonia | Exitus at 20 months |
Pattison, S. [43] | n/r | n/r | n/r | n/r | n/r | n/r | n/r | n/r | n/r | Exitus at Patient 1; 3 months Patient 2; 2 months |
Loren, D.J. [44] | n/r | Hydrops, ascites, edema, hepato-splenomegaly | n/r | n/r | no | n/r | n/r | n/r | n/r | Alive at the age of three months |
Caciotti, A. [22] | F | Coarse features, hepatosplenomegaly | Psychomotor retardation | n/r | Dysostosis multiplex | n/r | present | Cardiac anomalies | Telangiectasia Hypotonia, petechiae | Exitus at 1 year |
Bonten, E.J. [7] | F | Hydrops, hepato-splenomegaly | Psychomotor retardation, Hydrocephalus | No corneal opacity | Dysostosis multiplex, Joint contractures | n/r | n/r | cardiomyopathy | Cardiac anomalies | Exitus at 18 months |
Lee, Y.J. [45] | F | Hydrops, ascites, coarse features, hepatosplenomegaly | n/r | Bilateral congenital cataracts with foveal hypoplasia | n/r | n/r | n/r | n/r | Telangiectasia Hypotonia, bluish to purpuric macules mild thrombocytopenia | Exitus a t9 months |
Lee, B.H. [46] | F | Hydrops, ascites, coarse features, edema, hepato-splenomegaly | n/r | n/r | n/r | Present | n/r | Cardiomegaly with huge patent ductus arteriosus (PDA), Ventriculomegaly | Hypotonia | Exitus a t3 months |
References (Name of the First Author) | Gender | General Presentation | Nervous System | Ophthalmologic Findings | Skeleton | Respiratory Distress/Infections | Renal Involvement | Cardiac Involvement | Others | Course of Disease |
---|---|---|---|---|---|---|---|---|---|---|
Winter, R.M. [47] | M <1 year | Coarse feature | Psychomotor delay, Seizures | Visual loss | Dysostosis Multiplex | n/r | n/r | n/r | Hearing loss, Inguinal hernia | 22 years |
Kelly, T.E. [23] | F <1 year | Coarse feature, Hepatosplenomegaly | Psychomotor delay, seizures/myoclonic jerks | Cherry red spot | Dysostosis Multiplex | present | n/r | present | Umbilical hernia | 5 and half years |
Kelly, T.E. [23] | F Birth | Coarse feature, Hepatosplenomegaly | Psychomotor delay | Cataract | Dysostosis Multiplex | n/r | n/r | present | Hearing loss, Umbilical hernia, Hypotonia | 24 months |
King, M. [48] | M 5 months | Coarse feature, Hepatosplenomegaly | Psychomotor delay Ataxia | Cherry red spot, corneal Clouding, Cataract, | Dysostosis Multiplex | n/r/ | n/r | n/r | Hearing loss | 13 years |
King, M. [48] | F N/A | Coarse feature, Hepatosplenomegaly | Psychomotor delay | Cherry red spot, Cataract, | Dysostosis Multiplex | n/r | n/r | n/r | Hearing loss | 12 years |
Oohira, T. [49] | F <1 year | Coarse feature, Hepatosplenomegaly | Psychomotor delay, Ataxia, myoclonic jerks | Cherry red spots | Dysostosis Multiplex | n/r | n/r | n/r | Hypotonia | 5 years |
Young, I.D. [50] | M 18 months | Coarse feature | Psychomotor delay, Ataxia, myoclonic jerks | Cherry red spot, Nystagmus, Optic atrophy | Dysostosis Multiplex | nr | n/r | n/r | Hearing Loss, Hypotonia | 12 years |
Bakker, H.D. [51] | F 6 months | Coarse feature | Psychomotor delay | Strabismus, Nystagmus | n/r | n/r | n/r | n/r | Hearing Loss, Hypotonia | 30 years |
Rodriguez Criado, G. [42] | M <1 year | Coarse feature, Hepatosplenomegaly | Psychomotor delay, Myoclonic movements Ataxia | n/r | Dysostosis Multiplex | n/r | n/r | present | Hearing Loss, Hypotonia | 13 years |
Rodriguez Criado, G. [42] | M 16 months | Coarse feature, Hepatosplenomegaly | Psychomotor delay | n/r | Dysostosis Multiplex | n/r | n/r | absent | Hearing Loss, Hypotonia | 11 years |
Pattison, S. [43] | n/r | Coarse feature, Hepatosplenomegaly | n/r | n/r | Dysostosis Multiplex | n/r | n/r | n/r | n/r | 3 years |
Pattison, S. [43] | n/r | Coarse feature, Hepatosplenomegaly | n/r | n/r | Dysostosis Multiplex | n/r | n/r | n/r | n/r | 3 years |
Schiff, M. [52] | F <1 year | Coarse feature, Hepatosplenomegaly | Psychomotor delay | n/r | Dysostosis Multiplex | n/r | present | n/r | n/r | 11 years |
Gonzalez Gonzalez G [53] | n/r | n/r | Myoclonic epilepsy | n/r | Dysostosis Multiplex | n/r | n/r | present | n/r | 14 years |
Caciotti, A. [22] | M 1 year | Coarse feature | Psychomotor delay Seizures | Cherry red spot, cataract, | Dysostosis Multiplex | n/r | n/r | n/r | Hearing Loss | 9 years |
Bonten, E.J. [7] | M birth | Coarse feature, Hepatosplenomegaly | Developmental delay, Orbital hypoplasia | normal | Craniosynostosis | n/r | n/r | n/r | n/r | Progressing at 4 months |
Bonten, E.J. [7] | F 12 years | n/r | Psychomotor delay, Seizures Ataxia, Dysmetria Spasticity | Cherry red spots | Dysostosis Multiplex, microcephaly | n/r | n/r | ECG specific alterations of repolarization | Hearing Lossl | Progressing at 28 years. |
Ranganath, P. [54] | F 18 months | Coarse facies, hepatomegaly | n/a | Mild corneal haziness, bilateral fundal Cherry red spots | Macrocephaly | n/r | n/r | Cardiac anomalies | Protuberant tongue, gum hypertrophy, generalized hypertrichosis, large Mongolian spots on the back, umbilical hernia | n/r |
de Rezende Pintoi ** [55] | F 30 years | a high forehead and low-set ears | Advanced degree of mental deficiency.lower limb spasticity, and facial and limb myoclonic jerks | Bilateral macular cherry-red spots | n/r | n/r | n/r | n/r | A marked delayed in motor and cognitive functions present since childhood. Cognitive and motor skills had worsened over 10 years | n/r |
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Khan, A.; Sergi, C. Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder. Diagnostics 2018, 8, 29. https://doi.org/10.3390/diagnostics8020029
Khan A, Sergi C. Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder. Diagnostics. 2018; 8(2):29. https://doi.org/10.3390/diagnostics8020029
Chicago/Turabian StyleKhan, Aiza, and Consolato Sergi. 2018. "Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder" Diagnostics 8, no. 2: 29. https://doi.org/10.3390/diagnostics8020029