Surgical Treatment of Congenital Kyphosis in Children: Report of a Rare Complication of Remote Cerebellar Haemorrhage.

Congenital deformities of the spine lead to an imbalance in the longitudinal growth of the spine. These growth abnormalities may lead to three main patterns of deformity: scoliosis (the most common), kyphosis or lordosis (the least common). Despite the recent improvements in imaging and the routine use of neuromonitoring in the surgical treatment of congenital kyphosis, this surgery may be associated with a high rate of complications such as neurologic deficit, pulmonary thromboembolic events, infection, deep vein thrombosis, implant failure, and dural injury. In this paper, we report a rare yet devastating complication to raise awareness about patients who have unexpected neurological deterioration after spinal surgery. Early recognition of remote cerebellar haemorrhage (RCH) symptoms is crucial since rapid diagnosis and management lead to a favourable outcome for this potentially life-threatening complication. To our knowledge, this is the first reported case in children.

A Scoping Review of the Recent Clinical Practice Regarding the Evaluation of Bone Mineral Density in Children and Adolescents with Neuromuscular Diseases.

Introduction: Neuromuscular Diseases (NMD) are associated with decreased bone strength due to altered muscle-bone interaction. However, the evaluation of bone quality remains a certain challenge in these patients. The purpose of this scoping review is to investigate the recent literature regarding the assessment of Bone Mineral Density (BMD) in this population. Methods: An electronic search of the PubMed and Scopus database was performed considering studies published in the English literature after 2007 that evaluated BMD in pediatric and adolescent patients with NMD. We excluded studies that evaluated patients > 20 years, studies not involving humans, and studies investigating bone mineral density in various pediatric conditions, but without specific data on NMD. Results: Overall, 19 studies were included that evaluated BMD in 1983 patients with NMD. Duchenne Muscular Dystrophy was the most widely studied disease (n = 11 studies). Dual energy X-ray absorptiometry (DEXA) was the most common diagnostic modality for BMD evaluation, while the most frequent site for BMD measurement was the lumbar spine (89.4%, n = 17 studies), followed by total body BMD (68.4%, n = 13 studies). Low BMD in children with NMD was demonstrated in all studies, especially after loss of ambulation. Moreover, a positive correlation between lower BMD and older age was shown. Conclusions: BMD evaluation in NMD remains a clinical challenge, as indicated by the high heterogeneity regarding the optimal site and technique for the evaluation of bone quality in these patients. Although DXA is currently the diagnostic modality of choice, a consensus regarding the optimal site for BMD measurement, and the adjustment method for its obtained measurements for parameters such as age and height is needed.

Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience.

Given the complexity of neurocutaneous syndromes, a multidisciplinary approach has been advocated in order to provide optimum care. Subjects and Methods: Retrospective analysis of a cohort of 157 patients during a 3-year period, seen at a newly developed neurocutaneous clinic in a pediatric tertiary care hospital in Athens (Greece); and systematic chart review of the patients diagnosed with neurofibromatosis type 1 during this time period. Results: The most frequent neurocutaneous syndromes were neurofibromatosis type 1 (NF1) in 89 patients and tuberous sclerosis complex in 17. In 20.38% of patients a neurocutaneous syndrome was not confirmed. Approximately 2/3 of the NF1 patients underwent genetic analysis, and for 76.67% of them, a pathogenic mutation on the NF1 gene was revealed. Eighty-one patients manifested with generalized NF1 and eight with mosaic NF1. Dermatological manifestations included café-au-lait macules in all patients, followed by axillary and/or inguinal freckling (n = 57), external plexiform neurofibromas (n = 17), and cutaneous and subcutaneous neurofibromas (n = 11). Approximately half of patients had learning disabilities and attention deficit hyperactivity disorder, followed by mental retardation (n = 9), autistic spectrum disorders (n = 4), headaches (n = 3) and seizures (n = 2). Neuroimaging showed characteristic areas of hyperintensity on T2-weighted images in 74.07% of patients and optic pathway glioma in 19.75%. Two patients developed malignant peripheral sheath nerve tumor. Conclusions: Neurocutaneous syndromes are clinically heterogeneous and the surveillance of potential clinical complications is challenging. The availability of genetic diagnosis and novel imaging methods in this group of disorders is likely to further expand their clinical spectrum. Guidelines for assessment and management will need to be modified based on new available data.

A novel frameshift deletion in PLS3 causing severe primary osteoporosis.

Mutations in the gene encoding plastin-3, PLS3, have recently been associated to severe primary osteoporosis. The molecular function of plastin-3 is not fully understood. Since PLS3 is located on the X chromosome, males are usually more severely affected than females. PLS3 mutations have thus far been reported in approximately 20 young patients with low bone mineral density (BMD). We describe an 8-year-old Greek boy with severe primary osteoporosis with multiple vertebral compression fractures and one low-energy long bone fracture. His clinical manifestations were consistent with osteogenesis imperfecta, including blue sclerae, joint hypermobility, low bone mineral density, kyphosis, bilateral conductive hearing loss, and mild dysmorphic features. The family history was negative for primary osteoporosis. COL1A1 and COL1A2 mutations were excluded by Sanger sequencing. However, Sanger sequencing of PLS3 led to the identification of a de novo frameshift deletion, NM_005032: c.1096_1100delAACTT, p.(Asn366Serfs*5), in exon 10 confirming the diagnosis of PLS3 osteoporosis. In conclusion, we describe a novel frameshift deletion in PLS3 causing severe primary osteoporosis in a boy. Our finding highlights the clinical overlap between type I collagen and PLS3-related skeletal fragility and underscores the importance of PLS3 screening in patients with multiple fractures to enable proper genetic counseling.

Congenital insensitivity to pain with anhidrosis: a case report of a 33-year-old patient.

Congenital insensitivity to pain with anhidrosis is a type IV hereditary sensory and autonomic neuropathy, presenting early in life. This disorder results from defective neural crest differentiation with loss of the first-order afferent system, which is responsible for sensations of pain and temperature; a neuronal loss in the sympathetic ganglia is also present. A case of a 33-year-old patient with congenital insensitivity to pain with anhidrosis is presented. From the time of birth, he did not sweat and did not respond to painful stimuli, although unexplained bouts of fever were often observed in infancy; an extensive workup during childhood helped establish the diagnosis. Throughout childhood and adulthood, the patient presented multiple infections and fractures in various sites of his body, growth disturbances, and avascular necrosis, and Charcot arthropathies and joint dislocations mainly affected his elbow and hip joint. At the final follow-up, at the age of 33 years, he was found to be obese, with a limited social life. A Charcot elbow restricted the activity of his left upper limb, and the dislocated hips combined with the instability of the ankle joints limited the ambulation distance. A specific treatment protocol has not been established in the literature; the main principles that can be applied in patients with normal intelligence include training programs to prevent self-mutilation and accidental injuries and an early diagnosis and treatment of the infections.

Hybrid instrumentation for correction of adolescent idiopathic scoliosis.

UNLABELLED: New technology and instrumentation techniques are continually entering the spine field, leaving the scoliosis surgeon with a wide variety of options for the treatment of adolescent idiopathic scoliosis. All-screw constructs are currently the most popular. However, they remain controversial because of possible complications, and also because they have been associated with a decrease in thoracic kyphosis, not observed with hybrid instrumentation. The aim of the present study was to evaluate a hybrid construct: hooks and wires proximally, but pedicle screws distally. Forty-three patients with a minimum 2-year follow-up were included. The mean preoperative Cobb angle of the major curve was 60.85 degrees +/- 21 degrees. At the final evaluation it was reduced to 28.44 degrees +/- 11.9 degrees (mean correction 53.3%, p < 0.0001). The mean translation of the apical vertebra was corrected from -19.13 +/- 49 mm to -9.42 +/- 28.9 mm. The average thoracic kyphosis improved from 24 degrees +/- 14.3 degrees preoperatively to 30.7 degrees +/- 7.1 degrees, representing a mean correction of 28%. Kyphosis at the T10-L2 level was within normal values in all patients at the final evaluation. Complications included one superficial infection, one implant removal due to late onset wound infection, and 2 revisions to extend the fusion more distally. In other words, operative treatment with hybrid instrumentation yielded satisfactory results, with less risk of neurological damage. An excellent outcome in all planes could be safely achieved and maintained for a minimum of 2 years. CONCLUSION: why use an expensive all-screw construct, knowing that a hybrid construct is kyphosis sparing, cheaper, safer and more resistant to pull-out?