This study reveals a striking and unexpected gender difference in mortality and developmental progress. Of the two-thirds of nonketotic hyperglycinemia patients surviving the newborn period, up to 20% (mostly boys) may learn to walk and communicate by saying or signing words.

AIM To describe the clinical and radiological features of four new families with a childhood presentation of COL4A1 mutation.METHOD We retrospectively reviewed the clinical presentation. Investigations included radiological findings and COL4A1 mutation analysis of the four cases. Affected family members were identified. COL4A1 mutation analysis was performed in all index cases and, where possible, in affected family members. RESULTSThe three male and one female index cases presented with recurrent childhood-onset stroke, infantile hemiplegia ⁄ spastic quadriplegia, and infantile spasms. Additional features such as congenital cataracts and anterior segment dysgenesis were present. Microcephaly and developmental delay ⁄ learning difficulties were present in three cases. Three cases had one or more family member affected in multiple generations, with a total of 11 such individuals identified. The clinical features showed a wide intrafamilial variation. Magnetic resonance imaging (MRI) showed bilateral white matter change in all cases, except in one mutation-positive family member. Unilateral or bilateral porencephaly was present in cases with infantile hemiplegia, and a diagnosis of clinical stroke was supported by the presence of intracerebral haemorrhage. The age at diagnosis was between 1 year and 6 years for the children with presentation in infancy and 12 months after stroke in a 14-year-old male. Three new pathogenic mutations were identified in the COL4A1 gene.INTERPRETATION COL4A1 mutations can present in children with infantile hemiplegia ⁄ quadriplegia, stroke or epilepsy, and a motor disorder. The presence of eye features and white matter change on MRI in childhood can help point towards the diagnosis. Once the diagnosis is made, a careful search can identify affected family members.

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Objective?MRI in vanishing white matter typically shows diffuse abnormality of the cerebral white matter, which becomes increasingly rarefied and cystic. We investigated the MRI characteristics preceding this stage. Design?In a retrospective observational study, we evaluated all available MRIs in our database of DNA-confirmed VWM patients and selected MRIs without diffuse cerebral white matter abnormalities and without signs of rarefaction or cystic degeneration in patients below 20 years of age. A previously established scoring list was used to evaluate the MRIs. Results?An MRI of seven patients fulfilled the criteria. All had confluent and symmetrical abnormalities in the periventricular and bordering deep white matter. In young patients, myelination was delayed. The inner rim of the corpus callosum was affected in all patients. Conclusions?In early stages of VWM, MRI does not necessarily display diffuse cerebral white matter involvement and rarefaction or cystic degeneration. If the MRI abnormalities do not meet the criteria for VWM, it helps to look at the corpus callosum. If the inner rim (the callosal-septal interface) is affected, VWM should be considered.

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Study DesignA prospective observational study.PurposeTo evaluate the role of nucleoplasty in the management of discogenic axial back pain; to determine the influence of concordant pain during provocative discography, annular tear and loss of disc height on the outcome of nucleoplasty.Overview of LiteratureThe role of nucleoplasty in the management of radicular leg pain due to disc herniation is known. However, the data regarding its role in the management of discogenic axial back pain is scarce.MethodsA prospective evaluation of 30 patients with discogenic axial back pain undergoing nucleoplasty was performed. Pain, functional disability and quality of life were assessed using the 100 mm visual analogue scale (VAS), Oswestry Disability Index (ODI) and Short Form-36 (SF-36), respectively.ResultsThe mean reduction in VAS was 31.03 and 29.03; mean reduction in ODI was 24.53 and 20.60; and mean increment in SF-36 was 13.58 and 12.30, at 6 months and at 12 months, respectively. The differences were statistically significant (p <0.05). Concordant pain during provocative discography, annular tear and loss of disc height did not affect a clinically significant improvement in any of the three outcomes (p =0.882, 0.213, and 0.170; respectively).ConclusionsNucleoplasty produced statistically significant improvements in pain, functional disability and quality of life in patients with discogenic low back pain at 6 months and at 12 months. Concordant pain during provocative discography, annular tear and loss of disc height did not influence any of the outcomes after nucleoplasty in patients with discogenic axial back pain.

Background and purpose — Medial unicompartmental knee arthroplasty (UKA) is undertaken in patients with a passively correctable varus deformity. We investigated whether restoration of natural soft tissue tension would result in a lower limb alignment similar to that of the contralateral unaffected lower limb after mobile-bearing medial UKA.Patients and methods — In this retrospective study, hip-knee-ankle (HKA) angle, position of the weight-bearing axis (WBA), and knee joint line obliquity (KJLO) after mobile-bearing medial UKA was compared with that of the unaffected (clinically and radiologically) contralateral lower limb in 123 patients.Results — Postoperatively, HKA angle was restored to within ±3° of the contralateral lower limb in 87% of the patients and the WBA passed within ±1 Kennedy and White’s tibial zone of the unaffected contralateral lower limb in 95% of the patients. The mean KJLO in the operated limbs was not significantly different from that in the unaffected lower limbs (p = 0.07) and the KJLO in the operated limb was restored to within ±3° of that in the contralateral lower limb in 96% of the patients.Interpretation — Lower limb alignment and knee joint line obliquity after mobile-bearing medial UKA were comparable to that of the unaffected contralateral limb in most patients. Comparison with the contralateral unaffected lower limb is a reliable method for evaluation and validation of limb mechanical alignment after mobile-bearing medial UKA.