Thoraco-abdominal aortic aneurysm rupture in a patient with Shprintzen–Goldberg syndrome

Kimura, Naritaka; Inaba, Yu; Kameyama, Kaori; Shimizu, Hideyuki

doi:10.1093/icvts/ivy003

Cited by 4 publications

(2 citation statements)

References 3 publications

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“…Our patient’s cardiac symptoms were also milder than some of those seen in the literature. In contrast, SGS patients may display severe aortic dilation resulting in aneurysm [6,7]. Moreover, 1 patient required mitral valve replacement to treat severe regurgitation.…”

Section: Discussionmentioning

confidence: 99%

Complications of Insufficient Dura and Blood Loss During Surgical Intervention in Shprintzen-Goldberg Syndrome: A Case Report

et al. 2019

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Patient: Female, 9 Final Diagnosis: Mandibular hypoplasia secondary to Shprintzen-Goldberg Syndrome Symptoms: Difficulty swallowing Medication: — Clinical Procedure: Bilateral mandibular osteotomy and distraction for mandibular hypolasia Specialty: Neurosurgery Objective: Rare disease Background: Shprintzen-Goldberg syndrome (SGS) is an extremely rare collagenopathy, most often caused by autosomal-dominant mutations in the SKI proto-oncogene, which is a component of the transforming growth factor beta (TGF-β) signaling pathway. Approximately 50–60 cases of SGS have been recorded in the literature worldwide since its discovery in 1982. This collagen disorder affects bone and vascular development throughout the body, resulting in craniosynostosis, scoliosis, chest deformities, and aortic root dilation. Patients may have problems in the central nervous system, including Chiari 1 malformation, hydrocephalus, and dilation of the lateral ventricles. Unfortunately, the symptoms of SGS closely parallel those of related collagenopathies involving mutations in the TGF-β signaling pathway, which makes accurate diagnosis difficult without genetic testing, especially in cases with complex presentation. Case Report: In this report we present the unique and complex disease manifestations in a 9-year-old girl with SGS. The patient had severe cervical spinal instability that resolved after surgical occipital-C4 fusion with an autograft from the rib. Midface distraction surgery was used to treat the patient’s craniosynostosis and related facial deformities. This surgery was complicated by loss of 750 mL of blood due to insufficient dura and prominent vasculature. Conclusions: Connective tissue symptoms associated with SGS can involve dural and vascular problems, as seen in this case report. Thus, the risk of extreme blood loss should be anticipated any time midface distraction surgery is performed on an SGS patient. Continued research is needed to define how this case relates to the SGS patient population.

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Section: Discussionmentioning

confidence: 99%

Complications of Insufficient Dura and Blood Loss During Surgical Intervention in Shprintzen-Goldberg Syndrome: A Case Report

et al. 2019

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“…Rarity of the condition and lack of resources noticed to pose hindrance for detecting genetic mutations. 9,10 Mutated genes found in this case and their role in normal development described in the table 2. The ARHGAP31 gene code forGAP31 protein, involved in cellular signaling and contributing for normal development of limbs, skulls, heart and brain.…”

Section: Case Reportmentioning

confidence: 91%

Deviation of paradigmatic mutations found in shprintzen-goldberg syndrome

Nandy¹,

Das²,

Roy³

et al. 2019

Int J Contemp Pediatr

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Shprintzen-Goldberg (S-G) Syndrome known as rare congenital connective tissue disorder where craniosynostosis and marfanoid habitus found to be the usual presentation. Craniofacial dysmorphism with multi-organ involvement documented to be amongst prominent features of this syndrome. Case characteristics is five-month-old male infant with craniosynostosis, and motor developmental delay was evaluated for congenital connective tissue disorder. Dysmorphic craniofacial features like dolichocephaly, triangular forehead, ocular hypertelorism, micrognathia and retrognathia were noticed besides congenital umbilical hernia, empty scrotal sac, clinodactyly with long slender fingers, hyper-mobile joints, hypotonia. Subsequent investigations revealed normal male karyotype (46, XY) while genetic analysis depicted missense mutations in six different genes. Conventionally, mutation in SKI gene reported for its’ associated with S-G syndrome where dysregulation of TGF-β signaling was discussed as the primary reason. In the present case discussed here, it was found to have polygenic mutational association where few novel genetic mutations were seen.

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Aneurysmatic degeneration of connective tissue diseases: from diagnosis to treatment

Pizano,

Tenorio,

Tanaka

et al. 2022

Vascular Surgery

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Thoraco-abdominal aortic aneurysm rupture in a patient with Shprintzen–Goldberg syndrome

Cited by 4 publications

References 3 publications

Complications of Insufficient Dura and Blood Loss During Surgical Intervention in Shprintzen-Goldberg Syndrome: A Case Report

Complications of Insufficient Dura and Blood Loss During Surgical Intervention in Shprintzen-Goldberg Syndrome: A Case Report

Deviation of paradigmatic mutations found in shprintzen-goldberg syndrome

Aneurysmatic degeneration of connective tissue diseases: from diagnosis to treatment

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