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Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients.

ABSTRACT: Background: Sialidosis is a rare autosomal recessive disease caused by NEU1 mutations, leading to neuraminidase deficiency and accumulation of sialic acid-containing oligosaccharides and glycopeptides into the tissues. Sialidosis is divided into two clinical entities, depending on residual enzyme activity, and can be distinguished according to age of onset, clinical features, and progression. Type 1 sialidosis is the milder, late-onset form, also known as non-dysmorphic sialidosis. It is commonly characterized by progressive myoclonus, ataxia, and a macular cherry-red spot. As a rare condition, the diagnosis is often only made after few years from onset, and the clinical management might prove difficult. Furthermore, the information in the literature on the long-term course is scarce. Case presentations: We describe a comprehensive clinical, neuroradiological, ophthalmological, and electrophysiological history of four unrelated patients affected by type 1 sialidosis. The long-term care and novel clinical and neuroradiological insights are discussed. Discussion and conclusions: We report the longest follow-up (up to 30 years) ever described in patients with type 1 sialidosis. During the course, we observed a high degree of motor and speech disability with preserved cognitive functions. Among the newest antiseizure medication, perampanel (PER) was proven to be effective in controlling myoclonus and tonic-clonic seizures, confirming it is a valid therapeutic option for these patients. Brain magnetic resonance imaging (MRI) disclosed new findings, including bilateral gliosis of cerebellar folia and of the occipital white matter. In addition, a newly reported variant (c.914G > A) is described.

SUBMITTER: Coppola A

PROVIDER: S-EPMC7465165 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature

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Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients.

Coppola Antonietta A Ianniciello Marta M Vanli-Yavuz Ebru N EN Rossi Settimio S Simonelli Francesca F Castellotti Barbara B Esposito Marcello M Tozza Stefano S Troisi Serena S Bellofatto Marta M Ugga Lorenzo L Striano Salvatore S D'Amico Alessandra A Baykan Betul B Striano Pasquale P Bilo Leonilda L

Brain sciences 20200801 8

<i>Background</i>: Sialidosis is a rare autosomal recessive disease caused by <i>NEU1</i> mutations, leading to neuraminidase deficiency and accumulation of sialic acid-containing oligosaccharides and glycopeptides into the tissues. Sialidosis is divided into two clinical entities, depending on residual enzyme activity, and can be distinguished according to age of onset, clinical features, and progression. Type 1 sialidosis is the milder, late-onset form, also known as non-dysmorphic sialidosis. ...[more]

PMID: 32752208

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Project description:Introduction Four-corner arthrodesis with excision of the scaphoid is an accepted salvage procedure for scapholunate advanced collapse (SLAC) and scaphoid nonunion advanced collapse (SNAC) and has been performed in our unit for over 20 years. We have undertaken a retrospective review of 116 of these procedures performed in 110 patients between 1992 and 2009. Fifty-eight patients attended for a clinical evaluation, and 29 responded by postal questionnaire. Methods The surgical technique undertaken was standard. That is, through a dorsal approach the scaphoid and tip of the radial styloid were excised. The capitate, lunate, triquetrum, and hamate articular surfaces were then prepared down to bleeding bone. Bone grafts from the scaphoid and radial styloid were then inserted and fixation undertaken. For the latter, various methods were used, including Kirschner (K-)wires, staples, bone screws, but predominantly the Spider plate (Integra Life Sciences, USA). Thereafter the wrist was immobilized for a minimum period of 2 weeks prior to rehabilitation. Results Follow-up was done at a mean of 9 years and 4 months (range 3-19 years). All patients reported a significant improvement in pain relief and ∼50% of flexion extension, although only 40% of radioulnar deviation. Grip strength was again ∼50% of the contralateral side. Most patients reported a significant improvement in function with 87% returning to work. In addition, radiologic evaluation identified 28 patients (31%) who demonstrated ongoing signs of nonunion, particularly around the triquetrum. Fourteen of these (15%) underwent a further procedure, generally with success. Finally, none of the patients demonstrated any arthritic changes in the lunate fossa on follow-up X-ray, and all secondary procedures were undertaken within 2 years of the primary. Discussion This research has demonstrated that four-corner fusion fixed with a circular plate can result in a satisfactory outcome with a reduction in pain, a functional range of motion, and a satisfactory functional outcome. The bulk of the complications appear to occur in the first 2 years after surgery. Thereafter, analysis shows long-term satisfaction with little deterioration. Nonunion, particularly around the triquetrum, continues to be a problem, but it may be that this bone should be excised along with the scaphoid, resulting in a three-part fusion only. Alternatively, a simple capitolunate fusion may be satisfactory.

Project description:ObjectivesTo identify a set of signs and symptoms most likely to indicate uncomplicated cystitis in noncatheterized nursing home residents ≥65 years of age using consensus-based methods informed by a literature review.DesignLiterature review and modified Delphi survey with strict inclusion criteria.Setting and participantsExpert panel of 20 physicians certified in geriatric medicine and/or medical direction, actively practicing in post-acute and long-term care settings.MethodsThe authors performed a literature review to produce a comprehensive list of potential signs and symptoms of presumptive uncomplicated cystitis, including nonspecific "quality control" items deemed unlikely to indicate uncomplicated cystitis. The expert panel rated their agreement for each sign/symptom using a 5-point Likert-type scale (1 = strongly disagree to 5 = strongly agree). Agreed upon signs and symptoms were summarized using a diagnostic algorithm for easy clinical use.ResultsThe literature review identified 16 signs and symptoms that were evaluated in 3 Delphi survey rounds. The response rate was 100% for round 1 and 95% for the second 2 rounds. Consensus agreement for inclusion was achieved for dysuria on round 1 with exclusion of the 3 quality controls, and "offensive smelling urine." Consensus in the second round was reached for including 4 additional items (gross hematuria, suprapubic pain, urinary frequency, and urinary urgency). Round 3 evaluated dysuria alone and combinations of symptoms. Consensus that dysuria alone is sufficient for diagnosis of cystitis was not reached.Conclusions/implicationsThe panel identified 5 signs and symptoms likely indicative of uncomplicated cystitis in nursing home residents and developed a diagnostic algorithm that can be used to promote antibiotic stewardship in nursing homes. Given similarities in populations, the algorithm may also be applicable to the older adult and the broader post-acute/long-term care populations.

Dataset Information

Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients.

Publications

Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients.

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