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Abstract Background Interstitial chromosome 11 long arm deletions (11q13-q23) represent a rare cytogenetic abnormality characterized by non-specific clinical features including intellectual disability and several malformations without a clear genotype-phenotype correlation. We describe the first case of interstitial 11q deletion identified in a boy with Sprengel’s deformity and provide a review of the literature. Case presentation We report a 9-year-old boy with congenital scapular deformity, iris and chorioretinal coloboma, normal intelligence, and a history of mild motor development delay. The karyotype showed a de novo large 11q deletion. Fluorescence in situ hybridization (FISH) confirmed that the deletion is interstitial, and array comparative genomic hybridization (aCGH) revealed a loss of 25.8 Mb encompassing the 11q14.1-q22.3 region. Conclusions The present case and the literature review of 61 previously published cases highlight the clinical heterogeneity and the lack of genotype-phenotype correlation in interstitial 11q deletions. Sprengel’s deformity found in our patient might be a new finding in 11q deletions or, more probably, a fortuitous association.

The changing epidemiological profile of invasive Haemophilus influenzae infections (IIHi) is noted in the post-vaccination era. The aim of this study was to characterize phenotypically and genotypically invasive Haemophilus influenzae (Hi) isolates detected in Tunisian pediatric patients. A retrospective study was conducted in the microbiology laboratory of the Children’s Hospital of Tunis over ten years (2013–2023). All IIHi cases were included. Molecular identification and serotyping were conducted through qPCR. Molecular typing and analysis of resistance genes were extracted from whole genome sequencing data. Fifty-three IIHi cases were collected. Children under five years old were the most affected (81%). Non-typable isolates (NTHi) were predominant (79%) followed by serotype b (17%) and serotype a (4%). Genetic diversity was observed, essentially among NTHi isolates. Resistance of Hi isolates to ampicillin, amoxicillin–clavulanic acid and cefotaxime (CTX) were 42%, 20% and 4%, respectively. Thirteen isolates (29%) produced a beta-lactamase and 14 carried the blaTEM-1 gene (kappa = 0.95). For non-enzymatic resistance, group 3 (n = 12) showed resistance to ampicillin. Groupe 4 (n = 9, NTHi) showed discordances with resistance to CTX. The emergence of resistance to CTX is concerning. Continuous surveillance through molecular tools in conjunction with phenotypic and clinical data is necessary to ensure better management of these infections.

Abstract Background Isolated Patellar Aplasia Hypoplasia is a very rare autosomal dominant disorder. Its treatment depends on the clinical manifestations that can vary widely. The lack of active extension, which can be responsible for frequent falls due to a knee instability, is the most frequent and disabling manifestation. We report an original technique that is a modification of the Galeazzi technique for recurrent dislocation of the patella to gain active extension in case of PTLAH. Case report A 7-year-old Caucasian boy with isolated Patellar Aplasia Hypoplasia and an extension lag of the right knee has been treated by a modified Galeazzi technique. The tendons of the semi-tendinous and gracilis muscles have been harvested and their distal insertion was kept intact. Both tendons were fixed over the top of the patella to restore knee active extension. After 6 years of follow up the patient is symptom free with a strong active extension of the operated knee. Conclusion Reconstruction of isolated hypoplasia of the patella by a modified Galeazzi procedure is a safe and reliable technique for skeletally immature patients offering satisfying long-term outcomes.

BackgroundSpondylocostal dysostosis is a rare genetic disorder caused by mutations in DLL3, MESP2, LFNG, HES7, TBX6, and RIPPLY2. A particular form of this disorder characterized by the association of spondylocostal dysostosis with multiple pterygia has been reported and called spondylospinal thoracic dysostosis. Both disorders affect the spine and ribs, leading to abnormal development of the spine. Spondylospinal thoracic dysostosis is a rare syndrome characterized by the association of multiple vertebral segmentation defects, thoracic cage deformity, and multiple pterygia. This syndrome can be considered a different form of the described spondylocostal dysostosis. However, no genetic testing has been conducted for this rare disorder so far.MethodsWe report here the case of an 18-month-old female patient presenting the clinical and radiological features of spondylospinal thoracic dysostosis. To determine the underlying genetic etiology, whole exome sequencing (WES) and Sanger sequencing were performed.ResultsUsing WES, we identified a variant in the TPM2 gene c. 628C>T, already reported in the non-lethal form of multiple pterygium syndrome. In addition, following the analysis of WES data, using bioinformatic tools, for oligogenic diseases, we identified candidate modifier genes, CAP2 and ADCY6, that could impact the clinical manifestations.ConclusionWe showed a potential association between TPM2 and the uncommon spondylocostal dysostosis phenotype that would require further validation on larger cohort.

Background: Mucopolysaccharidosis (MPS) is a multisystemic storage disorder of glycosaminoglycan deposits. Infiltration of the dura mater and supporting ligaments caused spinal cord compression and consecutive myelopathy, especially at the cranio-cervical junction (CCJ). Craniocervical instability and posterior decompression often raise the problem of fixation in children. The main purpose of this paper was to report the result of an original technique of occipito-cervical arthrodesis using a cranial halo-cast system in pediatric population. Methods: We recorded 21 patients with cervical myelopathy. All of them had spinal cord decompression by enlargement of the foramen magnum, C1 laminectomy, and occipito-C2 fusion using corticocancellous bone graft. Only one child has an extended laminectomy from C1 to C3. The occiput-C2 arthrodesis was stabilized by the cranial halo-cast system. This immobilization was performed preoperatively and kept for three months then switched to rigid cervical collar. Clinical assessment, including the Goel grade and mJOA, radiographs and magnetic resonance imaging were performed before surgery. The occipito-cervical arthrodesis was controlled by standard X-rays and CT scan. Results: According to the type of mucopolysaccharidosis, the patients were divided into MPS type I: n= 3, II: n=7, IV: n=11. The mean age of patients at surgery was 6.76 years. All mucopolysaccharidoses cases required a foramen magnum decompression by craniectomy, C1 laminectomy and occipito-C2 arthrodesis. As major complications, a child had immediate post-operative paraplegia due to spinal cord ischemia. The postoperative follow-up ranged from 1.5 to 4 years, with an average of 3.3 years. The average preoperative mJOA score was 8.9, and it improved to 14 points at the last follow-up. Conclusions: Satisfactory fusion and good clinical results were obtained with the 2-stage approach to CCJ anomalies.