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Effects of functional electrical stimulation (FES) point towards a potential role as an alternative to orthoses for patients with spastic cerebral palsy (CP). Some evidence for a decrease in self-reported frequency of toe-drag and falls with the use of FES in spastic CP. Limited evidence for improvements in activity and participation in patients with spastic CP using FES.

The Ehlers-Danlos syndromes (EDS) form a clinically and genetically heterogeneous group of inherited connective-tissue disorders characterized by joint hypermobility, tissue fragility and skin abnormalities. Six subtypes have been well characterized based on clinical features and molecular genetic abnormalities. The arthrochalasia type EDS (formerly type VIIa and VIIb) is characterized by severe generalized joint hypermobility with multiple dislocations including congenital bilateral dislocation of the hips, muscular hypotonia and distinct dysmorphic features. The diagnosis of the arthrochalasia type EDS is of importance in the neonatal period because of consequences of physical disability in later life. However, the differential diagnosis may be difficult because of overlap with other hypermobility syndromes. In addition, the significant hypotonia may direct the physician towards various neuromuscular diagnoses. As patients get older, the hypotonia decreases and facial features become less distinct. In this report we describe seven patients at different ages. Timing of diagnosis varied from prenatal life to adult age. The diagnosis of EDS type VII was confirmed by biochemical studies or mutation analysis showing characteristic mutations in COL1A1 and COL1A2. These mutations result in skipping of exon 6, which leads to defective collagen synthesis. For physicians treating patients with EDS type VII, achieving mobility for the patient is the greatest challenge and it may be impossible due to recurrent dislocations of nearly all joints in severe cases.

Blount’s disease or bowed leg deformity, is a unilateral or bilateral growth deformity of the medial proximal tibia that leads to a tibial varus deformity. A distinction can be made in an early and late onset type. The disease seems to have a predisposition for certain descends. Since the first publication of Blount’s disease, different hypotheses on the aetiology are proposed but no consensus exists. The objective of this study is to provide an overview of the available hypotheses on the aetiology of Blount’s disease since its first description and assessment of the available level of evidence, the quality of evidence and the occurrence of bias supporting these individual hypotheses. A systematic search according to the PRISMA statement was conducted using PubMed, MEDLINE, EMBASE and the Cochrane Library using a broad combination of terminology to ascertain a complete selection. Proper MESH search criteria were formulated and the bibliographic search was limited to English and Dutch language articles. Articles with no mention of aetiology or a disease related to Blount’s were excluded. Level of evidence and types of bias were assessed. Thirty-two articles that discuss the aetiology of Blount’s disease were selected. A variety of hypotheses was postulated in these articles with most research in the field of increased mechanical pressure (obesity, early walking age) and race (descend). Blount’s disease most likely has a multifactorial origin with influence of genetic and racial predisposition, increased mechanical pressure on the growth plate as a consequence of obesity or early walking age and possibly also nutrition. However, the exact aetiology remains unclear, the probable explanation is that multifactorial factors are all contributing to the development of Blount’s disease. Histological research has shown that a disorganization of bone and cartilage structures on the medial side of the proximal tibial physis is present in patients with Blount’s disease. Based on the available evidence on the aetiology of Blount’s disease, we conclude that it is multifactorial. Most papers focus only on one hypotheses of Blount’s disease occurrence and all are characterized as low level of evidence. There seems to be a preference for certain descends. Further research on especially genetic predisposition is needed to provide more insight in this factor of Blount’s disease.

BackgroundCerebral palsy (CP) may cause severe spasticity, requiring neurosurgical procedures. The most common neurosurgical procedures are continuous infusion of intrathecal baclofen and selective dorsal rhizotomy. Both are invasive and complex procedures. We hypothesized that a percutaneous radiofrequency lesion of the dorsal root ganglion (RF-DRG) could be a simple and safe alternative treatment. We undertook a pilot study to test this hypothesis.MethodsWe performed an RF-DRG procedure in 17 consecutive CP patients with severe hip flexor/adductor spasms accompanied by pain or care-giving difficulties. Six children were systematically evaluated at baseline, and 1 month and 6 months after treatment by means of the Modified Ashworth Scale (MAS), Gross Motor Function Measure (GMFM) and a self-made caregiver's questionnaire. Eleven subsequent children were evaluated using a Visual Analogue Scale (VAS) for spasticity, pain and ease of care.ResultsA total of 19 RF-DRG treatments were performed in 17 patients. We found a small improvement in muscle tone measured by MAS, but no effect on the GMFM scale. Despite this, the caregivers of these six treated children unanimously stated that the quality of life of their children had indeed improved after the RF-DRG. In the subsequent 11 children we found improvements in all VAS scores, in a range comparable to the conventional treatment options.ConclusionRF-DRG is a promising new treatment option for severe spasticity in CP patients, and its definitive effectiveness remains to be defined in a randomised controlled trial.

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PurposeDysplasia epiphysealis hemimelica (DEH) is a rare developmental disorder resulting in epiphyseal overgrowth. Based on histological appearance, it is often described as an osteochondroma or osteochondroma-like lesion, although clinical differences exist between DEH and osteochondromas. The aim of this study was to test whether DEH and osteochondromas are histologically identical diseases.MethodsTissue samples of two age- and gender-matched cases with DEH and hereditary multiple exostoses were histologically compared. Sections were stained with Safranin-O for detection of proteoglycans and immunohistochemistry was performed for detection of collagen type II, collagen type X as a marker of hypertrophic chondrocytes and Sox9 as a marker of proliferative chondrocytes. Due to the rarity, descriptions of the included DEH patients were outlined.ResultsHistologically, chondrocyte clusters in a fibrillary matrix, a thick disorganised cartilage cap and ossification centres with small amounts of unabsorbed cartilage, were observed in DEH. In contrast, cartilage organisation of osteochondromas displays characteristics of the normal growth plate. Collagen type II was clearly detected in the cartilaginous extracellular matrix in osteochondromas, while weak expression was observed in DEH. Collagen type X was not detected in DEH, while expressed in the matrix surrounding hypertrophic chondrocytes in osteochondromas. Sox9 staining was positive in hypertrophic chondrocytes in osteochondromas, while expressed in nuclei of chondrocyte clusters in DEH.ConclusionBoth morphological and immunohistological differences were observed in histological sections of DEH and osteochondromas. These results support the previously identified clinical, radiological and genetic differences and imply a different aetiology between DEH and osteochondroma formation.

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