Familial HLA-B*52 Vasculitis: Maternal, Atypical Cogan's Syndrome with Takayasu Arteritis-mimicking Aortitis and Filial Takayasu Arteritis.

Cogan's syndrome (CS), a rare vasculitis characterized by non-syphilitic, interstitial keratitis and Ménière-like attacks, is classified into "typical" and "atypical" forms, while Takayasu arteritis (TAK) is a rare large-vessel vasculitis associated with human leukocyte antigen (HLA)-B*52. Very few cases meet both the CS and TAK classification criteria. We herein report a 53-year-old woman diagnosed with atypical CS and aortitis similar to TAK. Her 25-year-old daughter manifested TAK without symptoms of CS, and both are HLA-B*52 positive. Our case highlights the difficulties of distinguishing aortitis with atypical CS from aortitis with TAK.

Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.

Whether the recessive ataxias, Ataxia with oculomotor apraxia type 1 (AOA1) and 2 (AOA2) and Ataxia telangiectasia (AT), can be distinguished by video-oculography and alpha-fetoprotein level remains unknown. We compared 40 patients with AOA1, AOA2 and AT, consecutively referred between 2008 and 2015 with 17 healthy subjects. Video-oculography revealed constant impairments in patients such as cerebellar signs, altered fixation, impaired pursuit, hypometric saccades and abnormal antisaccades. Horizontal saccade latencies could be highly increased reflecting oculomotor apraxia in one third of patients. Specific distinctive alpha-fetoprotein thresholds were determined for AOA1 (7-15 µg/L), AOA2 (15-65 µg/L) and AT (>65 µg/L). Early age onset, severe walking disability, movement disorders, sensori-motor neuropathy and cerebellar atrophy were all shared. In conclusion, alpha-fetoprotein level seems to permit a distinction while video-oculography does not and therefore is not mandatory, even if an appropriate oculomotor examination remains crucial. Our findings are that AOA1, AOA2 and AT form a particular group characterized by ataxia with complex oculomotor disturbances and elevated AFP for which the final diagnosis is relying on genetic analysis. These findings could guide genetic analysis, assist reverse-phenotyping and provide background for the interpretation of the numerous variants of unknown significance provided by next-generation sequencing.

Childhood Cogan syndrome with aortitis and anti-neutrophil cytoplasmic antibody-associated glomerulonephritis.

Cogan syndrome is a systemic disease manifesting interstitial keratitis, sensorineural hearing loss, tinnitus, and rotatory vertigo. Renal complications of this syndrome are very rare. We encountered an adolescent with Cogan syndrome complicated by aortitis and anti-neutrophil cytoplasmic antibody (ANCA)-associated glomerulonephritis. At the age of 14, the patient showed proteinuria in a screening urinalysis at school and was found to lack a right radial pulse. Magnetic resonance angiography disclosed right subclavian artery stenosis. Examination of a renal biopsy specimen showed ANCA-positive crescentic glomerulonephritis. Steroid and immunosuppressant treatment improved renal function and histopathology, but repeated recurrences followed. At 18, the patient developed rotatory vertigo, a sense of ear fullness, and sensorineural hearing loss. The patient was diagnosed with Cogan syndrome. We know of no previous description of ANCA-positive crescentic glomerulonephritis in children with Cogan syndrome. Accordingly, evaluation of aortitis in childhood should include not only otolaryngologic and ophthalmologic examinations, but also periodic urine examination and renal function tests.

Leflunomide for the successful management of juvenile Cogan's syndrome.

Cogan's syndrome (CS) is a rare multisystemic disorder characterized by inflammatory eye diseases and vestibuloauditory dysfunctions. It is prone to be misdiagnosed or overlooked, and the prognosis of those delayed-diagnosed CS is not optimistic. Despite isolated patient responses to systemic treatment including steroids and methotrexate, there is currently no general consensus on an effective treatment for CS. We present a case of Cogan's syndrome remission associated with leflunomide (LEF) in a juvenile patient. To date, there is no such report on CS, especially in children, which is successfully treated by LEF in combination with glucocorticoids.