Dataset Information

Sinding-Larsen-Johansson syndrome: A case report.

ABSTRACT: The Sinding-Larsen-Johansson syndrome has a pathogenesis similar to that of the Osgood-Schlatter disorder and is the result of excessive force exerted by the patellar tendon on the lower pole of the patella. Clinically it is characterized by pain, which increases when the patellar is loaded during flexion, subpatellar swelling and functional limitation. The authors present a case of a 13-year-old boy who was a competitive youth team football player. He presented with anterior, spontaneous knee pain and swelling at the inferior pole of the patella. Ultrasonography (US) confirmed clinical diagnosis showing lesions typical of the Sinding-Larsen-Johansson syndrome. The patient was told to refrain from sports activity; after five months recovery was complete and US follow-up revealed no anomaly. The authors consider the case worthy of reporting because it is paradigmatic and to emphasize the role of US in the evaluation of the Sinding-Larsen-Johansson syndrome.

SUBMITTER: Valentino M

PROVIDER: S-EPMC3558086 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature

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Sinding-Larsen-Johansson syndrome: A case report.

Valentino M M Quiligotti C C Ruggirello M M

Journal of ultrasound 20120328 2

The Sinding-Larsen-Johansson syndrome has a pathogenesis similar to that of the Osgood-Schlatter disorder and is the result of excessive force exerted by the patellar tendon on the lower pole of the patella. Clinically it is characterized by pain, which increases when the patellar is loaded during flexion, subpatellar swelling and functional limitation. The authors present a case of a 13-year-old boy who was a competitive youth team football player. He presented with anterior, spontaneous knee p ...[more]

PMID: 23396672

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Project description:BackgroundLarsen syndrome is a hereditary disorder characterized by osteochondrodysplasia, congenital large-joint dislocations, and craniofacial abnormalities. The autosomal dominant type is caused by mutations in the gene that encodes the connective tissue protein, filamin B (FLNB). Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by arterial aneurysms, dissections and tortuosity, and skeletal, including craniofacial, manifestations. Mutations in five genes involved in the transforming growth factor beta (TGF-β) signaling pathway cause five types of LDS. Stickler syndrome is a genetically heterogeneous arthro-ophthalmopathy caused by defects in collagen, exhibiting a wide specter of manifestations in connective tissue. A rare case is reported that was diagnosed with all these three hereditary connective tissue disorders.Case presentationA 19 year-old, Norwegian male with a clinical diagnosis of Larsen syndrome and with healthy, non-consanguineous parents attended a reference center for rare connective tissue disorders. Findings at birth were hypotonia, joint hypermobility, hyperextended knees, adductovarus of the feet, cervical kyphosis, craniofacial abnormalities, and an umbilical hernia. From toddlerhood, he required a hearing aid due to combined conductive and sensorineural hearing loss. Eye examination revealed hyperopia, astigmatism, and exotropia. At 10 years of age, he underwent emergency surgery for rupture of an ascending aortic aneurysm. At 19 years of age, a diagnostic re-evaluation was prompted by the findings of more distal aortic dilation, tortuosity of precerebral arteries, and skeletal findings. High throughput sequencing of 34 genes for hereditary connective tissue disorders did not identify any mutation in FLNB, but did identify a de novo missense mutation in TGFBR2 and a nonsense mutation in COL2A1 that was also present in his unaffected father. The diagnosis was revised to LDS Type 2. The patient also fulfills the proposed criteria for Stickler syndrome with bifid uvula, hearing loss, and a known mutation in COL2A1.ConclusionLDS should be considered in patients with a clinical diagnosis of Larsen syndrome, in particular in the presence of arterial aneurysms or tortuosity. Due to genetic heterogeneity and extensive overlap of clinical manifestations, genetic high throughput sequencing analysis is particularly useful for the differential diagnosis of hereditary connective tissue disorders.

Dataset Information

Sinding-Larsen-Johansson syndrome: A case report.

Publications

Sinding-Larsen-Johansson syndrome: A case report.

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