Diaphanospondylodysostosis: Full Case Report with Novel Pathogenic BMPER Mutation

Diaphanospondylodysostosis is an extremely rare, recessively inherited, perinatal lethal skeletal disorder associated with BMPER gene mutations. Clinically it is characterized by defects in costovertebral ossification, absent ribs, hypertelorism, short nose with depressed nasal bridge, low-set ears, and short neck. At the extraosseous level, the most frequent pathologic finding is nephroblastomatosis with multicystic kidneys. We present the case of a child of non-consanguineous parents who died at 2 months of age in our center. Autopsy showed a marked costovertebral ossification defect, perilobar nephrogenic rests and loss of white matter with periventricular leukomalacia. After genetic study, the diagnosis of diaphanospondylodysostosis was confirmed. A previously undescribed germinal mutation in the BMPER gene (c.576 + 2dupT) was found.

Use of Chimney Technique Does Not Improve the Outcome of Endovascular Aneurysm Repair in Patients With a Hyperangulated and Short Proximal Aortic Neck

Purpose: We hypothesized that extending the proximal landing zone with the chimney technique could be beneficial in patients with a hyperangulated proximal aortic neck, defined as more > 60 degrees. Material and Methods: We retrospectively analyzed the outcome of prospectively collected data of patients treated by endovascular aneurysm repair (EVAR) for infrarenal aortic aneurysm with a hyperangulated proximal aortic neck. In all, 104 out of 130 patients were treated without (Group A) and 24 with the chimney endovascular aortic repair (ChEVAR, Group B). Primary outcome was technical and clinical success according to the reporting standards of the Society of Vascular Surgery. Results: The use of the chimney technique was associated with a significantly longer operation duration (167 vs. 93 min, p < .001), longer fluoroscopy time (44 vs.30 min, p = < .001), and larger amount of contrast medium used (149 vs. 127 ml, p = .03) but did not significantly improve technical (79.2% vs. 87.7%) and clinical success (54.2% vs. 68.9%). Aneurysm-related mortality was higher in group B (8.3% vs. = 0%, p < .001). Type IA endoleak was high in both groups at completion angiography (11.3% in Group A vs. 12.5% in Group B) and at follow-up (10.4% in Group A vs. 4.5% in Group B) without significant difference between the groups. Conclusions: Our data did not show a benefit of the primary use of the chimney technique in patients with a hyperangulated and short neck, although more studies are required to support this conclusion. Other strategies or new technologies are required for improving EVAR results in aneurysm patients with severe angulated proximal and short neck.

Anesthetic management of an achondroplastic dwarf with difficult airway and kyphoscoliosis for total abdominal hysterectomy

Achondroplasia is a common form of dwarfism and possesses multiple anesthetic challenges including securing of intravenous line, monitoring and calculating drug dosage, spine abnormality, difficulty in mask ventilation and endotracheal intubation, obesity, cardiopulmonary and neurological system abnormality. There is multiple systems involvement, therefore thorough preanesthetic check ups, investigations and planning for anesthesia is important. Here we came across 36 years old female patient, achondroplasic dwarf (height- 100cm) with thoracolumbar kyphoscoliosis, fused cervical spine, short neck and restricted neck movement with mild pulmonary restrictive disease for total abdominal hysterectomy. Patient also had complained of generalized weakness and fatigue. She had a limited neck extension and short neck possesses anticipated difficult intubation, therefore we planned awake fiberoptic intubation with smaller size endotracheal tube for airway management and general anesthesia in a patient with difficult airway and spine for total abdominal hysterectomy. As the spread of the drug in regional anesthesia is unpredicted, we planned general anesthesia with awake fiberoptic intubation to avoid the risk of neurological injury while extending the neck during laryngoscopy for tracheal intubation due to restricted neck movement.

Transmastoid Trautman's Triangle Combined Low Retrosigmoid Approach for Foramen Magnum Meningiomas: Surgical Anatomy and Technical Note

Objective This study was aimed to assess the potential of utilizing a transmastoid Trautman's triangle combined low retrosigmoid approach for ventral and ventrolateral foramen magnum meningiomas (FMMs) surgical treatment. Methods We simulated this transmastoid Trautman's triangle combined low retrosigmoid approach using five adult cadaveric heads to explore the associated anatomy in a step-by-step fashion, taking pictures of key positions as appropriate. We then employed this approach in a single overweight patient with a short neck who was suffering from large ventral FMMs and cerebellar tonsillar herniation. Results Through cadaver studies, we were able to confirm that this transmastoid Trautman's triangle combined with low retrosigmoid approach achieves satisfactory cranial nerve and vasculature visualization while also offering a wide view of the whole of the ventrolateral medulla oblongata. We, additionally, have successfully employed this approach to treat a single patient suffering from large ventral FMMs with cerebellar tonsillar herniation. Conclusion This transmastoid Trautman's triangle combined low retrosigmoid approach may represent a complement to treatment strategies for ventral and ventrolateral FMMs, particularly in patients with the potential for limited surgical positioning due to their being overweight, having a short neck and suffering from cerebellar tonsillar herniation.

Rare cause of paraparesis in a young man: cervico-dorsal neurenteric cysts associated with Klippel-Feil syndrome

Klippel-Feil syndrome is an entity presenting with short neck, low hairline and reduced range of motion of cervical spine. Neurenteric cyst is a congenital abnormality, in which mucus-secreting epithelium of the gastrointestinal tract is seen in the spinal axis. The association of a neurenteric cyst with Klippel-Feil syndrome has been reported very rarely. We report the case of a young man, affected by Klippel-Feil syndrome, who presented with bilateral paraplegia. Imaging of the spine revealed features suggestive of cervico-dorsal neurenteric cyst. Subsequently, surgical resection of the cysts was done, which resulted in resolution of the symptoms.

Klippel-Feil syndrome with multiple skeletal anomalies, Dandy-Walker spectrum, and occipital cephalocele—a rare presentation

Background Klippel-Feil syndrome (KFS) is a congenital malformation causing fusion of at least two cervical vertebrae and characterized clinically by presence of triad of short neck, limited neck movements, and low posterior hair line. Various skeletal and non-skeletal anomalies may be seen in association with KFS. Case presentation We present a case of 6-year-old boy of KFS with various skeletal anomalies such as multiple segmentation and formation anomalies of the spine including anomalies of craniovertebral junction (CVJ), spina bifida occulta, scoliosis, Sprengel deformity of right shoulder, and multiple rib anomalies, as well as neurological anomalies like Dandy-Walker spectrum and atretic occipital cephalocele. Conclusion To the best of our knowledge, association of such extensive skeletal anomalies and Dandy-Walker spectrum with KFS has been uncommonly reported in the literature. This case highlights the importance of knowledge of various common and uncommon associations of KFS to avoid missing significant anomalies.