Indocyanine green lymphography for congenital lymphatic dysplasia with tuberous sclerosis complex: A case report

Kaneshi, Yosuke; Shibasaki, Jun; Aida, Noriko; Shimokaze, Tomoyuki; Toyoshima, Katsuaki

doi:10.1111/ped.14071

Cited by 6 publications

(7 citation statements)

References 5 publications

(10 reference statements)

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“…So far, this anomaly has been documented in at least 13 children with TSC 37–42 . One leg was affected in 10 cases (Fig.…”

Section: Clinical Features Of Suggesting Superimposed Mosaicism In Tscmentioning

confidence: 95%

“…So far, this anomaly has been documented in at least 13 children with TSC. [37][38][39][40][41][42] One leg was affected in 10 cases ( Fig. 8) and in two children, one arm was involved.…”

Section: Congenital Segmental Lymphedemamentioning

confidence: 99%

“…The extracutaneous features of superimposed mosaicism in TSC and other autosomal dominant skin disorders have recently been reviewed. 47 Contrasting with disseminated cerebral tubers, columnar cerebral defects radiating to the cortex 42,48 suggest superimposed mosaicism (Fig. 10).…”

Section: Extracutaneous Manifestations Of Superimposed Mosaicismmentioning

confidence: 99%

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Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?

Happle

Torrelo

2020

Acad Dermatol Venereol

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In patients with tuberous sclerosis, we can today distinguish between two different categories of segmental mosaicism. The well-known simple segmental mosaicism is characterized by a unilateral or otherwise localized arrangement of the ordinary lesions of the disorder, reflecting heterozygosity for an early postzygotic new mutation. By contrast, superimposed mosaicism is defined by a pronounced segmental involvement in a patient with ordinary non-segmental lesions of the same disorder, resulting in a heterozygous embryo from loss of the corresponding wild-type allele that occurred at a very early developmental stage. So far, the second category has been called 'type 2 segmental mosaicism', but here we propose the short and unambiguous term 'superimposed mosaicism'. In order to render physicians familiar with the manifold manifestations of this category as noted in tuberous sclerosis, we review the following clinical designations under which cases suggesting superimposed mosaicism have been published: forehead plaque; shagreen patch; fibrous cephalic plaque; fibromatous lesion of the scalp; folliculocystic and collagen hamartoma; segmental hypomelanosis; congenital segmental lymphedema; and segmental 'diffuse' lipomatosis. Molecular corroboration of this genetic concept has been provided in a case of forehead plaque and in a child with shagreen patch.-Extracutaneous manifestations suggesting superimposed mosaicism include columnar tuberous brain defects; 'radial migration lines' or 'cerebral white matter migration lines' as noted by brain imaging; linear hamartomatous lesions of the tongue; fibrous dysplasia of bones including macrodactyly; and unilateral overgrowth of an arm or leg.-Remarkably, superimposed mosaicism appears to occur in tuberous sclerosis far more frequently than simple segmental mosaicism.

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“…So far, this anomaly has been documented in at least 13 children with TSC 37–42 . One leg was affected in 10 cases (Fig.…”

Section: Clinical Features Of Suggesting Superimposed Mosaicism In Tscmentioning

confidence: 95%

“…So far, this anomaly has been documented in at least 13 children with TSC. [37][38][39][40][41][42] One leg was affected in 10 cases ( Fig. 8) and in two children, one arm was involved.…”

Section: Congenital Segmental Lymphedemamentioning

confidence: 99%

See 1 more Smart Citation

Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?

Happle

Torrelo

2020

Acad Dermatol Venereol

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“…In pediatric cardiac surgery, ICG-FA was used for congenital cardiac surgeries ( n = 3) ( 45 , 52 , 68 ) and post-operative chylothorax ( n = 2) ( 40 , 61 ). Reported indications in pediatric plastic surgery were lymphatic and venous malformations ( n = 8) ( 17 , 21 , 30 , 38 , 39 , 42 , 50 , 57 ) and tissue perfusion ( n = 3) ( 33 , 46 , 65 ). Orthopedics indications were rare and included trauma surgeries ( n = 2) ( 19 , 20 ) and rotationplasty for patients with femoral sarcoma ( n = 1) ( 11 ).…”

Section: Resultsmentioning

confidence: 99%

The Use of Indocyanine Green Fluorescence Angiography in Pediatric Surgery: A Systematic Review and Narrative Analysis

et al. 2021

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Purpose: Indocyanine green fluorescence angiography (ICG-FA) is a validated non-invasive imaging technique used to assess tissue vascularization and guide intraoperative decisions in many surgical fields including plastic surgery, neurosurgery, and general surgery. While this technology is well-established in adult surgery, it remains sparsely used in pediatric surgery. Our aim was to systematically review and provide an overview of all available evidence on the perioperative use of indocyanine green fluorescence angiography in pediatric surgical patients.Methods: We conducted a systematic review with narrative synthesis in conformity with the PRISMA guidelines using PubMed, Medline, All EBM Reviews, EMBASE, PsycINFO, and CINAHL COMPLETE databases to identify articles describing the perioperative use of ICG-FA in pediatric patients. Two independent authors screened all included articles for eligibility and inclusion criteria. We extracted data on study design, demographics, surgical indications, indocyanine green dose, and perioperative outcomes. We developed a risk of bias assessment tool to evaluate the methodological quality of included studies.Results: Of 1,031 articles retrieved, a total of 64 articles published between 2003 and 2020 were included reporting on 664 pediatric patients. Most articles were case reports and case series (n = 36; 56%). No adverse events related to ICG-FA were reported in the included articles. Risk of bias was high. We did not conduct a meta-analysis given the heterogeneous nature of the populations, interventions, and outcome measures. A narrative synthesis is presented.Conclusion: Indocyanine green fluorescence angiography is a safe imaging technology and its use is increasing rapidly in pediatric surgical specialties. However, the quality of evidence supporting this trend currently appears low. Case-control and randomized trials are needed to determine the adequate pediatric dose and to confirm the potential benefits of ICG-FA in pediatric surgical patients.Systematic Review Registration: This study was registered on Prospero a priori, identifier: CRD42020151981.

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“…In this case, antiepileptic drugs were used to suppress seizures. In addition, when TSC-PLE is combined with other critical signs, such as osteofascial compartment syndrome caused by severe LE, aortic aneurysm caused by severe vascular malformations, erysipelas and systemic infections caused by LE, and pulmonary embolism caused by deep vein thrombosis, timely symptomatic treatment should be administered[ 13 - 15 ].…”

Section: Discussionmentioning

confidence: 99%

Tuberous sclerosis complex combined with primary lymphedema: A case report

Li,

Sun,

Liu

et al. 2024

World J Clin Cases

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BACKGROUND Tuberous sclerosis complex (TSC) and primary lymphedema (PLE) are both rare diseases, and it is even rarer for both to occur in the same patient. In this work, we have provided a detailed description of a patient's clinical presentation, imaging findings, and treatment. And a retrospective analysis was conducted on 14 published relevant case reports. CASE SUMMARY A 16-year-old male came to our hospital for treatment due to right lower limb swelling. This swelling is already present from birth. The patient’s memory had been progressively declining. Seizures had occurred 1 year prior at an unknown frequency. The patient was diagnosed with TSC combined with PLE through multimodal imaging examination: Computed tomography, magnetic resonance imaging, and lymphoscintigraphy. The patient underwent liposuction. The swelling of the patient's right lower limb significantly improved after surgery. Epilepsy did not occur.after taking antiepileptic drugs and sirolimus. CONCLUSION TSC with PLE is a rare and systemic disease. Imaging can detect lesions of this disease, which are important for diagnosis and treatment.

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Indocyanine green lymphography for congenital lymphatic dysplasia with tuberous sclerosis complex: A case report

Cited by 6 publications

References 5 publications

Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?

Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?

The Use of Indocyanine Green Fluorescence Angiography in Pediatric Surgery: A Systematic Review and Narrative Analysis

Tuberous sclerosis complex combined with primary lymphedema: A case report

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