Tachypnea of Infancy as the First Sign of Sanfilippo Syndrome

Chiang, Jackie; Raiman, Julian; Cutz, Ernest; Solomon, Melinda; Dell, Sharon D.

doi:10.1542/peds.2013-2765

Cited by 7 publications

(2 citation statements)

References 15 publications

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“…More importantly from a clinical point of view, mucopolysaccharidoses (MPS) were overrepresented in our cohort with two out of eleven children. A third child with PIG and MPS has recently been described in the literature [30]. In our cohort of infants with unexplained tachypnoe and suspected PIG, but without biopsy, we identified MPS type IIIB by whole exome sequencing as the underlying genetic cause (homozygote chr17:40695044_A/G).…”

Section: Discussionmentioning

confidence: 70%

Pulmonary interstitial glycogenosis – A systematic analysis of new cases

Seidl

Carlens

Reu

et al. 2018

Respiratory Medicine

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Section: Discussionmentioning

confidence: 70%

Pulmonary interstitial glycogenosis – A systematic analysis of new cases

Seidl

Carlens

Reu

et al. 2018

Respiratory Medicine

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“…However, a case report describes the case of a neonate exhibiting persistent tachypnea associated with parenchymal abnormalities observed on lung imaging; the infant was later diagnosed with MPS IIIA. This case suggests that patients with MPS may exhibit earlier modes of presentation and atypical findings [ 34 ].…”

Section: Resultsmentioning

confidence: 99%

Lung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management

Montanari,

Tagi,

D’Auria

et al. 2024

Children

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Pulmonologists may be involved in managing pulmonary diseases in children with complex clinical pictures without a diagnosis. Moreover, they are routinely involved in the multidisciplinary care of children with rare diseases, at baseline and during follow-up, for lung function monitoring. Lysosomal storage diseases (LSDs) are a group of genetic diseases characterised by a specific lysosomal enzyme deficiency. Despite varying pathogen and organ involvement, they are linked by the pathological accumulation of exceeding substrates, leading to cellular toxicity and subsequent organ damage. Less severe forms of LSDs can manifest during childhood or later in life, sometimes being underdiagnosed. Respiratory impairment may stem from different pathogenetic mechanisms, depending on substrate storage in bones, with skeletal deformity and restrictive pattern, in bronchi, with obstructive pattern, in lung interstitium, with altered alveolar gas exchange, and in muscles, with hypotonia. This narrative review aims to outline different pulmonary clinical findings and a diagnostic approach based on key elements for differential diagnosis in some treatable LSDs like Gaucher disease, Acid Sphingomyelinase deficiency, Pompe disease and Mucopolysaccharidosis. Alongside their respiratory clinical aspects, which might overlap, we will describe radiological findings, lung functional patterns and associated symptoms to guide pediatric pulmonologists in differential diagnosis. The second part of the paper will address follow-up and management specifics. Recent evidence suggests that new therapeutic strategies play a substantial role in preventing lung involvement in early-treated patients and enhancing lung function and radiological signs in others. Timely diagnosis, driven by clinical suspicion and diagnostic workup, can help in treating LSDs effectively.

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Persistent tachypnea of infancy, neuroendocrine cell hyperplasia of infancy, and pulmonary interstitial glycogenosis: “A3‐Specific conditions of undefined etiology”

Griese,

Seidl

2024

Pediatric Pulmonology

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Tachypnea of Infancy as the First Sign of Sanfilippo Syndrome

Cited by 7 publications

References 15 publications

Pulmonary interstitial glycogenosis – A systematic analysis of new cases

Pulmonary interstitial glycogenosis – A systematic analysis of new cases

Lung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management

Persistent tachypnea of infancy, neuroendocrine cell hyperplasia of infancy, and pulmonary interstitial glycogenosis: “A3‐Specific conditions of undefined etiology”

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