RESUMO
The clinical data of a case with late-onset isolated sulfite oxidase deficiency(ISOD)admitted in the Department of Neurology, Children′s Hospital, Zhejiang University School of Medicine in July 2021 were retrospectively analyzed.Fifteen previously published cases of late-onset ISOD were also reviewed.The patient was a girl, who was hospitalized because of " motor regression with mental retardation for 5 days" at 1 year old.The manifestations of the patient were extrapyramidal symptoms, regression of motor development and seizures.The level of urinary sulfites in the patient was increased.Magnetic resonance imaging (MRI) features were bilateral pallidus and substantia nigra.Gene sequencing suggested a pure missense mutation of the sulfite oxidase( SUOX) gene c. 650(exon5)G>A(p.Arg217Gln). In 16 cases of late-onset ISOD, the median age at onset and diagnosis was 10.5 months and 34.0 months, respectively.The common clinical manifestations were hypotonia (13 cases), seizures (10 cases), movement disorders (9 cases), and ectopia lentis (6 cases). The most common brain MRI feature was pallidus changes (11 cases), followed by lesions of substantia nigra (5 cases), and cerebral atrophy (4 cases). Fourteen cases of late-onset ISOD showed a positive urinary sulfite test.The missense mutation of the SUOX gene was found in 9 cases.It suggested that brain MRI involvement of bilateral pallidus, high excretion of urine sulfites and the missense mutation of the SUOX gene were important diagnostic clues for late-onset ISOD.
RESUMO
Objective To evaluate clinical efficacy of shoulder dislocation combined with reverse Hill-sachs injury treated with Neer modified McLaughlin procedure. Methods Clinical data of seven patients for shoulder dislocation combined with reverse Hill-sachs injury in our hospital from October 2013 to June 2016 were retrospectively analyzed. All of the patients were received Neer modified McLaughlin procedure with defect area of humeral head from 25%to 40%. The clinical outcomes were evaluated with plain radiographs, subjective satisfaction, range of shoulder motion, University of Califonia Los Angeles (UCLA) shoulder scale and constant score, which were recorded at the final follow up. Results The mean follow-up period was (12.3 ± 4.3) months. No recurence of shoulder dislocation was found. At the final follow up, a patient was found a slight osteoarthritis based on radiographs. Two patients were very satisfied with the surgery and five patients were satisfied. The average anterior flexion, abduction and external rotation of shoulder were 145.7° ± 12.7° and 148.6° ± 15.7° and 47.1° ± 5.7° respectively. The average UCLA score and constant score were (26.6 ± 2.8) and (78.6 ± 7.2) respectively. Conclusion The Neer modified McLaughlin procedure shows a remarkable clinical effect for shoulder dislocation combined with reverse Hill-sachs injury. The short and mid-term effects are definite with few complications.