Catherine Adamsbaum

Diagnosis and treatment of ossification of the posterior longitudinal ligament of the spine : report of eight cases and literature review

PURPOSE Ossification of the posterior longitudinal ligament (OPLL) is a common, well-recognized cause of spinal stenosis and myelopathy in Japan. Although also common in whites, especially among the elderly, it has received little scientific attention. We wish to increase awareness of this important cause of myelopathy, and to determine if the clinical characteristics of OPLL are similar in non-Japanese and Japanese patients. PATIENTS AND METHODS The clinical and radiologic features of eight cases of OPLL are presented. These cases combined with 73 non-Japanese cases gathered from the English literature are contrasted with 2,125 Japanese cases of OPLL. RESULTS Similarities among non-Japanese and Japanese cases included: (1) male predominance; (2) peak age at onset of symptoms in the sixth decade; (3) clinical presentation, which ranged from asymptomatic to quadriplegia, with progressive or acute onset of neurologic deterioration; (4) greater than 95% localization to the cervical spine, spastic quadriparesis being the most common neurologic presentation; (5) an association with several rheumatic conditions including diffuse idiopathic skeletal hyperostosis (DISH), spondylosis, and ankylosing spondylitis; and (6) neurologic improvement with either conservative or surgical treatment in a significant proportion of patients. Differences between the two groups were minimal and included a higher mean age at onset (although onset in both groups occurred within the sixth decade) and a greater proportion of patients with DISH and with the continuous type of OPLL in the non-Japanese group. CONCLUSION The clinical characteristics of OPLL are similar in Japanese and non-Japanese patient populations. Increased awareness of this condition, which has potentially devastating neurologic complications, will favorably influence diagnosis, treatment, and outcome.

Gonadotrophic status in adolescents with pituitary stalk interruption syndrome

Objective  Pituitary stalk interruption syndrome (PSIS) is a frequent cause of GH deficiency (GHD) and is commonly associated with other PH deficiencies (PHDs). Although previous reports have correlated multiple PHDs with severe anatomical lesions, the status of the gonadotrophic axis has not yet been thoroughly analysed.

Polycystic Ovary Syndrome in Adolescents: Which MR Imaging–based Diagnostic Criteria?

Purpose To evaluate the validity and reproducibility of magnetic resonance (MR) imaging-based ovarian morphologic measurements for diagnosis of polycystic ovary syndrome (PCOS) in adolescents. Materials and Methods This case-control study included 110 adolescent girls (age range, 13-17 years) who underwent pelvic MR imaging in 2006-2015. The case group included girls with high (n = 40, hyperandrogenism and oligomenorrhea or amenorrhea), intermediate (n = 8, hyperandrogenism), or low (n = 7, oligomenorrhea or amenorrhea) suspicion of PCOS. Control subjects were 55 age-matched (± 2 years) girls with no clinical hyperandrogenism, oligomenorrhea, or amenorrhea. The validity (sensitivity, specificity, and area under the receiver operating characteristic curve [AUC]) of the number of follicles per ovary (FPO) measuring 9 mm or smaller (FPO-9) and FPO measuring 5 mm or smaller (FPO-5), ovarian volume (OV), sphericity index, peripheral distribution of follicles, and absence of a dominant follicle were determined, with girls who were highly suspected of having PCOS compared with control subjects as the reference. Two radiologists independently measured these criteria in 50 girls who were suspected of having PCOS to assess reproducibility (κ and intraclass correlation coefficients [ICCs]). Results All criteria except sphericity index and absence of a dominant follicle were significantly associated with the level of suspicion of PCOS (P ≤ .05). The AUCs for FPO-9 (0.78; 95% confidence interval [CI]: 0.68, 0.87), FPO-5 (0.73; 95% CI: 0.62, 0.83), and OV (0.77; 95% CI: 0.68, 0.87) were significantly greater than 0.5; that was not true for sphericity index (AUC, 0.58; 95% CI: 0.47, 0.70). Sensitivity and specificity for peripheral distribution of follicles were 33% (95% CI: 19%, 49%) and 95% (95% CI: 85%, 99%), respectively; for absence of a dominant follicle, they were 90% (95% CI: 76%, 97%) and 27% (95% CI: 16%, 41%), respectively. Reproducibility was almost perfect for OV (ICC, 0.89), substantial for absence of a dominant follicle (κ, 0.74), moderate for FPO-9 (ICC, 0.54) and FPO-5 (ICC, 0.61), and fair for peripheral distribution of follicles (κ, 0.37). Conclusion The most accurate MR imaging-based diagnostic criteria for PCOS were OV, FPO-9, and peripheral distribution of follicles; however, reproducibility of these measures was moderate, except that for OV (ICC, 0.89).

Magnetic Resonance Imaging Features as Surrogate Markers of X-Linked Hypophosphatemic Rickets Activity

Objective: X-linked hypophosphatemic rickets (XLH) is the most common form of inheritable rickets. Rickets treatment is monitored by assessing alkaline phosphatase (ALP) levels, clinical features, and radiographs. Our objectives were to describe the magnetic resonance imaging (MRI) features of XLH and to assess correlations with disease activity. Study Design: Twenty-seven XLH patients (median age 9.2 years) were included in this prospective single-center observational study. XLH activity was assessed using height, leg bowing, dental abscess history, and serum ALP levels. We looked for correlations between MRI features and markers of disease activity. Results: On MRI, the median maximum width of the physis was 5.6 mm (range 4.8–7.8; normal <1.5), being >1.5 mm in all of the patients. The appearance of the zone of provisional calcification was abnormal on 21 MRI images (78%), Harris lines were present on 24 (89%), and bone marrow signal abnormalities were present on 16 (59%). ALP levels correlated with the maximum physeal widening and with the transverse extent of the widening. Conclusions: MRI of the knee provides precise rickets patterns that are correlated with ALP, an established biochemical marker of the disease, avoiding X-ray exposure and providing surrogate quantitative markers of disease activity.

High incidence of cranial synostosis and Chiari I malformation in children with X-linked hypophosphatemic rickets (XLHR)

X‐linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia and causes rickets and osteomalacia in children because of increased FGF23 secretion and renal phosphate wasting. Even though cranial vault and craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation, have been observed in children with XLHR, their actual incidence and characteristics are not established. The aims of this study were to analyze the incidence of cranial and cervico‐occipital junction (COJ) anomalies in children with XLHR and describe its features. This is a retrospective study of CT scans of the head and skull in 44 XLHR children followed at the French Reference Center for Rare Diseases of the Calcium and Phosphate Metabolism. Forty‐four children with XLHR, 15 boys and 29 girls, aged 8.7 ± 3.9 years at time of CT scan, were studied. We found that 59% of XLHR children had a complete or partial fusion of the sagittal suture and 25% of XLHR children showed protrusion of the cerebellar tonsils. A history of dental abscesses was associated with craniosynostosis, and craniosynostosis was associated with abnormal descent of cerebellar tonsils. Only 2 patients showed neurologic symptoms. Four of 44 patients (9%) required neurosurgery. This study highlights that sagittal suture fusion and Chiari type I malformation are frequent complications of XLHR. The incidence of sagittal synostosis in XLHR is actually extremely high and was probably underestimated so far. Chiari type I malformation is also frequent. Because diagnosis of craniovertebral anomalies can be underestimated on a purely clinical basis, radiological studies should be considered in XLHR children if a proper diagnosis is warranted.

Conventional radiography in juvenile idiopathic arthritis: Joint recommendations from the French societies for rheumatology, radiology and paediatric rheumatology

BackgroundJuvenile idiopathic arthritis (JIA) can cause structural damage. However, data on conventional radiography (CR) in JIA are scant.ObjectiveTo provide pragmatic guidelines on CR in each non-systemic JIA subtype.MethodsA multidisciplinary task force of 16 French experts (rheumatologists, paediatricians, radiologists and one patient representative) formulated research questions on CR assessments in each non-systemic JIA subtype. A systematic literature review was conducted to identify studies providing detailed information on structural joint damage. Recommendations, based on the evidence found, were evaluated using two Delphi rounds and a review by an independent committee.Results74 original articles were included. The task force developed four principles and 31 recommendations with grades ranging from B to D. The experts felt strongly that patients should be selected for CR based on the risk of structural damage, with routine CR of the hands and feet in rheumatoid factor-positive polyarticular JIA but not in oligoarticular non-extensive JIA.ConclusionThese first pragmatic recommendations on CR in JIA rely chiefly on expert opinion, given the dearth of scientific evidence. CR deserves to be viewed as a valuable tool in many situations in patients with JIA.Key Points• CR is a valuable imaging technique in selected indications.• CR is routinely recommended for peripheral joints, when damage risk is high.• CR is recommended according to the damage risk, depending on JIA subtype.• CR is not the first-line technique for imaging of the axial skeleton.