[Intraosseous cavernous hemangioma of the middle turbinate. Clinical cases]. / Vnutrikostnaya kavernoznaya gemangioma srednei nosovoi rakoviny. Klinicheskie sluchai.

Intraosseous vascular pathology of the turbinates is extremely rare in the practice of an otorhinolaryngologist and can be presented in various histopathological variants. The article presents two clinical cases in which an intraosseous cavernous hemangioma was hidden under the mask of a hypertrophied middle turbinate. The final diagnosis was established by the results of histological examination. The analysis of these clinical cases indicates that, despite the low prevalence, atypical clinical and CT picture, intraosseous formations of the nasal cavity can be of a vascular nature and certainly require a comprehensive examination, including CT, CT with contrast and/or MRI of the nose and paranasal sinuses. These clinical observations indicate that preliminary embolization of feeding vessels before surgical treatment is not required.

Intraosseous hemangioma with aneurysmal bone cyst-like changes of the hyoid bone: Case report and literature review.

RATIONALE: Intraosseous hemangioma is a rare benign vascular tumor of the bone that can affect any body part; however, the most common site is the vertebra, followed by calvarial bones. PATIENT CONCERNS: We present a case of intraosseous hemangioma in a 23-year-old male who presented a feeling of fullness in the throat for 3 months. The hyoid bone level had a hard mass of about 5 cm. Fine needle aspiration showed 5 mL dark bloody aspirates. Magnetic resonance image showed a 5.3 cm mixed signal intensity lesion in the hyoid body. DIAGNOSIS: Histopathologic examination showed intraosseous hemangioma with aneurysmal bone cyst (ABC)-like changes in the hyoid bone. INTERVENTIONS: The mass was completely removed without significant problems. OUTCOMES: Complete mass excision and symptomatic improvements were achieved, and no subsequent relapses were observed. LESSONS: The authors experienced a case of intraosseous hemangioma with ABC-like changes. There has been no case report of intraosseous hemangioma in the hyoid bone. This case showed a spectral pattern of the ABC-like changes developing from the underlying bone tumor as a secondary change. ABC-like changes in bone tumors can mislead the diagnosis. Careful examination of the tumor is essential for the correct diagnosis of ABC or ABC-like changes.

Acalvaria: a case report of a rare congenital malformation and a review of the literature.

Acalvaria is a rare congenital malformation characterized by the absence of bones and related muscles in a section of the skull. The number of reported cases in the literature is quite low, and it is generally considered a fatal malformation. We present a case of a newborn diagnosed with acalvaria malformation along with a review of the literature, emphasizing the importance of distinguishing this rare condition from malformations such as anencephaly, exencephaly and acrania. INTRODUCTION: The clinical landscape of acalvaria is scarcely populated, with the malformation often signifying a dire prognosis. Despite the embryological origin and pathogenesis remaining largely enigmatic, it has critical implications for the prenatal and postnatal therapeutic strategies. We investigate a case coupled with a comprehensive literary review to present a clearer clinical portrait and advance the alertness about this lethal anomaly among healthcare providers. DISCUSSION: The rarity of acalvaria constrains the establishment of a definitive incidence rate or a standardized treatment protocol. Varied associations with other neurological and systemic anomalies pose a significant ambiguity regarding its etiopathogenesis. Differential diagnosis remains intricate, relying on nuanced ultrasonographic examinations and an informed interpretation of embryological developments. CONCLUSION: Through our report of an acalvaria-affected newborn undetectable in prenatal ultrasound, we highlight the implications of rarity - the obstacle in uniform diagnosis and the resultant therapeutic challenge. The discussion fosters a need for heightened awareness and consolidating case reports to nurture clinical consensus. Furthermore, it underscores the necessity for multifaceted research efforts towards understanding etiology and optimizing treatment modalities.

Could scalp pain be a type of unclassified headache? / A dor no couro cabeludo poderia ser um tipo de dor de cabeça não classificada?

The scalp is the structure that covers the skull. It is commonly affected by painful processes resulting from infestations, infectious or inflammatory diseases. This pain located in the scalp does not have well-defined clinical characteristics and is not yet included in the ICHD-3 diagnostic criteria. The authors suggest including this pain in the next classification of headaches as a headache attributed to a scalp disorder.

O couro cabeludo é a estrutura que cobre o crânio. É comumente acometida por processos dolorosos decorrentes de infestações, doenças infecciosas ou inflamatórias. Essa dor localizada no couro cabeludo não possui características clínicas bem definidas e ainda não está incluída nos critérios diagnósticos da ICHD-3. Os autores sugerem incluir esta dor na próxima classificação de dores de cabeça como dor de cabeça atribuída a um distúrbio do couro cabeludo.

A rare case of aplasia cutis congenita.

In this study, we retrospectively analyzed the clinical data of a newborn with aplasia cutis congenita (ACC) to provide insights for diagnosing and treating the disease. It is believed that ACC with an intact skull and a skin defect diameter of less than 2 cm can be treated conservatively. The main strategies include local disinfection and regular dressing changes to promote epithelial regeneration. The lesion can heal over weeks or months through epithelization adjacent to the defect tissue, resulting in a healed contracture scar with a smooth, hairless surface that can be surgically removed later. For children with large scalp defects or skull defects, skin transplantation, free flap, and cranioplasty can be performed to repair the wound and restore the tissue structure. It is worth mentioning that although this child had a scalp defect larger than 2 cm, conservative treatment still had a significant effect. This suggests that conservative treatment can be considered as the first choice for ACC neonates without skull defects, and surgical treatment can be considered when necessary.

Efficiency analysis of commercial polymeric membranes for bone regeneration in rat cranial defects

Purpose: To evaluate the in vivo efficiency of commercial polymeric membranes for guided bone regeneration. Methods: Rat calvarial critical size defects was treated with LuminaCoat (LC), Surgitime PTFE (SP), GenDerm (GD), Pratix (PR), Techgraft (TG) or control (C-) and histomorphometric analysis determined the percentage of new bone, connective tissue and biomaterial at 1 or 3 months. Statistical analysis used ANOVA with Tukey's post-test for means at same experimental time and the paired Student's t test between the two periods, considering p < 0.05. Results: New bone at 1 month was higher for SP, TG and C-, at 3 months there were no differences, and between 1 and 3 months PR had greater increase growthing. Connective tissue at 1 month was higher for C-, at 3 months for PR, TG and C-, and between 1 and 3 months C- had sharp decline. Biomaterial at 1 month was higher for LC, in 3 months for SP and TG, and between 1 and 3 months, LC, GD and TG had more decreasing mean. Conclusion: SP had greater osteopromotive capacity and limitation of connective ingrowth, but did not exhibit degradation. PR and TG had favorable osteopromotion, LC less connective tissue and GD more accelerated biodegradation.

Aplasia cutis congénita: a propósito de un caso / Aplasia cutis congenita: case report / Aplasia congênita da cútis: relato do caso

La aplasia cutis congénita es una patología rara caracterizada por la ausencia de desarrollo de piel. Aunque puede localizarse en diferentes áreas del cuerpo, mayormente afecta el cuero cabelludo y puede extenderse a tejidos subyacentes. Presentamos aquí un caso clínico que se destaca por la extensión de la lesión. Se incluye la descripción del tratamiento y seguimiento del paciente.

Aplasia Cutis Congenita is a rare pathology characterized by the absence of development of the epidermis, and even though it can compromise any area of the body, it usually affects the scalp and it can be extended to the underlying tissues. We present a particular case due to the lesion size. It includes treatment description and follow-up.

A Aplasia Congênita da Cútis é uma patologia rara caracterizada pela ausência de desenvolvimento das epidermes, e embora possa se localizar em diferentes áreas do corpo, acomete principalmente o couro cabeludo e pode se espalhar para os tecidos subjacentes. Apresentamos aqui um caso clínico que se destaca pela extensão da lesão. Incluímos a descrição do tratamento e acompanhamento do paciente.

Craniofacial reconstructions in children with craniosynostosis.

BACKGROUND: Craniosynostosis is a rare congenital disease of the skull. They arise when one or more cranial sutures ossify prematurely. This causes an obstruction to normal brain growth and leads to specific deformations of the skull, which may result in intracranial hypertension and cognitive delay. MATERIALS AND METHODS: We have retrospectively analysed all children treated at the Unit of paediatric neurosurgery of the University Medical Centre Ljubljana between June 2015 and September 2020. The following items have been recorded: affected suture, underlying syndromic condition, hydrocephalus, Chiari malformation, raised intracranial pressure, age at surgery, surgical technique, need for multiple operations and surgical complications. RESULTS: During the study period, 71 children have been treated for craniosynostosis. The median postoperative follow-up was 31 months. There were: 54.9% sagittal, 25.3% metopic, 14.0% unicoronal, 1.4% bicoronal and 1.4% unilateral lambdoid craniosynostosis. Multiple sutures were affected in 2.8% cases. 7.0% of the cases were syndromic. Overall, 74 surgical procedures have been performed: frontoorbital advancement represented 40.5% of them; biparietal remodelling 32.4%: total cranial vault remodelling 22.9%; posterior distraction 2.7%; posterior expansion 1.3%. Median age at surgery was 12.8 months. CONCLUSIONS: The treatment of craniosynostosis is surgical and requires a multidisciplinary approach, with expertise in plastic and reconstructive surgery, maxillofacial surgery and neurosurgery. The aim of surgical treatment is to release the constrictive and deformative effect that the synostosis has on skull growth. This requires a remodelling of the neurocranium and, if necessary, of the viscerocranium. Beyond aesthetic purposes, the primary aim of surgical treatment is to permit a normal development of the brain.

Intraosseous Venous Malformations of the Head and Neck.

Intraosseous venous malformations represent a subtype of venous vascular malformations that arise primarily in bone. In the head and neck, intraosseous venous malformations are most frequently found in the skull, skull base, and facial skeleton, with location at the geniculate ganglion of the facial nerve perhaps the most widely recognized. These non-neoplastic lesions are characterized by dilated venous channels with characteristic internal bony spicules on CT but may present with a more complex appearance on MR imaging and may share features with more aggressive lesions. Further confounding the imaging-based diagnosis of intraosseous venous malformation is the frequent misrepresentation of these lesions as hemangiomas in the radiology and clinical literature, as well as in daily practice. Because most intraosseous venous malformations can be left alone, their correct diagnosis may spare a patient unnecessary concern and intervention.

Primary Intraosseous Cavernous Hemangioma of the Cranium: A Systematic Review of the Literature.

Primary intraosseous cavernous hemangioma (PICH) is a rare, benign tumor of vascular origin, typically arising in the vertebral body. Its presence in the skull is exceedingly rare, with only a few cases being reported worldwide. We carried out the first systematic review of the literature, covering the epidemiology, clinical and imaging features, management, and prognosis of cranial PICH. The literature search revealed 51 studies with 77 patients; the mean age of the patients was 32.7 years with a female predominance of 1.4:1. The majority of cranial PICHs were located in the calvarium, primarily in the frontal and parietal regions, with only a few located in the skull base. The most common initial clinical manifestation was local growth or swelling, followed by a headache. Radiographically, PICHs represented osteolytic, intradiploic masses, which in many cases displayed trabeculations, leading to the so-called "honeycomb" or "starburst" pattern. After contrast administration, PICHs typically enhance. Tumor removal, with craniectomy or en bloc resection and subsequent skull reconstruction, was selected for calvarial PICHs, whereas a transsphenoidal approach, with only partial resection, was applied for clival/sella PICHs. Preoperative embolization, aiming to minimize intraoperative blood loss, was performed in the case of large tumors. At a mean follow-up of 39 months, no patient experienced tumor recurrence, even after subtotal resection. Owing to the benign nature of the tumor, maximal safe resection is recommended as the treatment of choice for patients with cranial PICH.

Congenital atlanto-occipital fusion and its effect on the myodural bridge: a case report utilizing the P45 plastination technique / Fusión atlanto-occipital congénita y su efecto sobre el puente miodural: reporte de un caso utilizando la técnica de plastinación P45

SUMMARY: The atlanto-occipital joint is composed of the superior fossa of the lateral masses of the atlas (C1) and the occipital condyles. Congenital Atlanto-occipital fusion (AOF) involves the osseous union of the base of the occiput (C0) and the atlas (C1). AOF or atlas occipitalization/assimilation represents a craniovertebral junction malformation (CVJM) which can be accompanied by other cranial or spinal malformations. AOF may be asymptomatic or patients may experience symptoms from neural compression as well as limited neck movement. The myodural bridge (MDB) complex is a dense fibrous structure that connects the suboccipital muscular and its related facia to the cervical spinal dura mater, passing through both the posterior atlanto-occipital and atlanto-axial interspaces. It is not known if atlas occipitilization can induce structural changes in the MDB complex and its associated suboccipital musculature. The suboccipital region of a cadaveric head and neck specimen from an 87-year-old Chinese male having a congenital AOF malformation with resultant changes to the MDB complex was observed. After being treated with the P45 plastination method, multiple slices obtained from the cadaveric head and neck specimen were examined with special attention paid to the suboccipital region and the CVJM. Congenital atlanto-occipital fusion malformations are defined as partial or complete fusion of the base of the occiput (C0) with the atlas (C1). In the present case of CVJM, unilateral fusion of the left occipital condyle with the left lateral mass of C1 was observed, as well as posterior central fusion of the posterior margin of the foramen magnum with the posterior arch of C1. Also noted was a unilateral variation of the course of the vertebral artery due to the narrowed posterior atlanto-occipital interspace. Surprisingly, complete agenesis of the rectus capitis posterior minor (RCPmi) and the obliques capitis superior (OCS) muscles was also observed in the plastinated slices. Interestingly, the MDB, which normally originates in part from the RCPmi muscle, was observed to originate from a superior bifurcation within an aspect of the nuchal ligament. Therefore, the observed changes involving the MDB complex appear to be an effective compensation to the suboccipital malformations.

RESUMEN: La articulación atlanto-occipital está compuesta por las caras articulares superiores de las masas laterales del atlas (C1) y los cóndilos occipitales. La fusión atlanto-occipital congénita (FAO) implica la unión ósea de la base del occipucio (C0) y el atlas (C1). La FAO u occipitalización/asimilación del atlas representa una malformación de la unión craneovertebral (MUCV) que puede presentar otras malformaciones craneales o espinales. La FAO puede ser asintomática o los pacientes pueden experimentar síntomas de compresión neural así como movimiento limitado del cuello. El complejo del puente miodural (PMD) es una estructura fibrosa densa que conecta el músculo suboccipital y su fascia relacionada con la duramadre espinal cervical, pasando a través de los espacios intermedios atlanto-occipital posterior y atlanto-axial. No se sabe si la occipitilización del atlas puede inducir cambios estructurales en el complejo PMD y en la musculatura suboccipital. Se observó en la región suboccipital de un espécimen cadavérico, cabeza y cuello de un varón chino de 87 años con una malformación congénita de FAO con los cambios resultantes en el complejo PMD. Se examinaron múltiples cortes obtenidos de la muestra de cabeza y cuello después de ser tratados con el método de plastinación P45, con especial atención a la región suboccipital y la MUCV. Las malformaciones congénitas por fusión atlanto-occipital se definen como la fusión parcial o completa de la base del occipucio (C0) con el atlas (C1). En el presente caso de MUCV se observó la fusión unilateral del cóndilo occipital izquierdo con la masa lateral izquierda de C1, así como fusión posterior central del margen posterior del foramen magnum con el arco posterior de C1. También se observó una variación unilateral del curso de la arteria vertebral por el estrechamiento del espacio interatlanto-occipital posterior. Se observó además agenesia completa de los músculos Rectus capitis posterior minor (RCPmi) y oblicuos capitis superior (OCS) en los cortes plastinados. Curiosamente, se observó que el MDB, que normalmente se origina en parte del músculo RCPmi, se origina en una bifurcación superior dentro de un aspecto del ligamento nucal. Por lo tanto, los cambios observados en el complejo PMD parecen ser una compensación de las malformaciones suboccipitales.

Two-step treatment of a giant skull vault hemangioma: A rare case report and literature review.

Skull vault hemangiomas are benign vascular tumours of the calvaria that are usually asymptomatic or present as firm, painless lumps. We present a case of a 59-year-old female with a giant intraosseous calvarial hemangioma that was admitted in our department with a palpable mass over the left frontoparietal region, personality changes and impaired emotional and cognitive functions. The patient was treated with a two-step approach involving endovascular and surgical treatment, and suffered two rare, but recognized complications, a contrecoup intracerebral haemorrhage and valproate-induced stupor and parkinsonism. At the 6-month follow-up, the patient had complete recovery with a good neurological outcome.

Neuroradiological findings in Alagille syndrome.

Alagille syndrome (ALGS) is a multisystemic disease caused by mutations in genes of Notch pathway, which regulates embryonic cell differentiation and angiogenesis. Clinically, ALGS is characterized by cholestasis, cardiac defects, characteristic facial features, skeletal and ophthalmologic abnormalities. The aim of this review is to illustrate neuroradiological findings in ALGS, which are less well-known and prevalent, including cerebrovascular anomalies (such as aneurysms, dolichoectasia, Moyamoya syndrome and venous peculiarities), Chiari 1 malformation, craniosynostosis, intracranial hypertension, and vertebral anomalies (namely butterfly vertebra, hemivertebra, and craniocervical junction anomalies). Rarer cerebral midline malformations and temporal bone anomalies have also been described.

Orthopedic and neurosurgical care of X-linked hypophosphatemia.

X-linked hypophosphatemia (XLH) is due to mutations in the PHEX gene leading to unregulated production of FGF23 and uncontrollable hypophosphatemia. XLH is characterized in children by rickets, short stature, waddling gait, and leg bowing of variable morphology and severity. Phosphate supplements and oral vitamin D analogs partially or, in some cases, fully restore the limb straightness. XLH patients may also be affected by premature, complete, or partial ossification of sutures between cranial bone, which could eventually result in cranial dysmorphia, decreased intracranial volume, and secondary abnormally high intracranial pressure with a cerebral compression. Our goal is to address the criteria and the management of the skeletal complications associated with XLH, mainly orthopedic and neurosurgical care, and reflect on decision-making and follow-up complexities.

Safety of Contemporary Resorbable Fixation Systems for Craniofacial Reconstruction in Pediatric Patients.

BACKGROUND: Resorbable hardware allows adequate strength for maintaining the relative position of the craniofacial skeleton during osseous healing, and allowing subsequent growth in pediatric patients. The purpose of this study was to determine the complication profile of the latest copolymer of resorbable plates for craniofacial reconstruction in pediatric patients. METHODS: Retrospective query of the operative billing record was performed for use of the DePuy Synthes Rapidsorb Fixation System at the authors' tertiary children's hospital from 2015 to 2019. Three hundred twenty-five patients were randomly selected for analysis of complications within the first postoperative year. RESULTS: Median age at craniofacial reconstruction was 3.0 years, with 127 procedures (39.9 percent) performed for an intracranial mass and 141 procedures (44.3 percent) performed for craniosynostosis. Overall, 7.9 percent patients had a postoperative wound complication. The most common complications were dehiscence (3.8 percent), hematoma/seroma (3.5 percent), and infection (2.5 percent). There were no instances of extrusion, plate fracture, or screw loosening. Hardware complications in the temporoparietal region were more likely to occur at incision sites (p = 0.001), whereas wound complications at the frontal region were more likely to occur away from incision sites (p < 0.001). There were no differences in complications between plates secured with resorbable screws or with the resorbable injectable polymer system (p ≥ 0.161 for all). Radiotherapy was significantly implicated in development of clinical infection (p = 0.001), culture-positive infection (p < 0.001), readmission (p = 0.007), reoperation (p = 0.003), and plate removal (p = 0.007). CONCLUSION: Resorbable cranial hardware has an overall favorable complication profile for craniofacial reconstruction in pediatric patients undergoing surgical intervention for craniosynostosis or intracranial mass resection.

Correlation of brachycephaly grade with level of exophthalmos, reduced airway passages and degree of dental malalignment' in Persian cats.

For many years, there has been a trend to breed cats with an increasing degree of brachycephalic head features, which are known to have a severe impact on the animals' health and welfare. The direct relation between different grades of brachycephaly and their negative implications have not been researched in this species. The aim of this study was therefore to establish correlations between the different grades of brachycephaly and reduced upper respiratory airways, exophthalmos of the eye globes and malalignment of the teeth in Persian cats. Sixty-nine Persian cats of various skull dimensions and ten Domestic shorthair cats were recruited for the study. The cats' skulls were examined using three-dimensional reconstructions created from Computed Tomography datasets. Brachycephaly was graded using established craniometric measurements (facial index, cranial index, skull index, craniofacial angle). The flow area of the nasal passageways at different locations, the amount of the eye globe not supported by the bony orbit and the axial deviation of the teeth were quantified and evaluated for a correlation with the grade of brachycephaly. The results of this study clearly show that increased grades of brachycephaly in Persian cats resulted in larger extra-orbital parts of the ocular bulbs. The brachycephalic skull dimension also resulted in a lower height of the naso-osseal aperture, while other areas of the nasal airways were not correlated with the severity of brachycephaly. Persian cats showed a significantly increased occurrence of premolar tooth displacement in the upper jaw with increasing brachycephaly grades. It was interesting to note that the measured values had a broad range and values of some individual Persian cats showed an overlap with those of Domestic shorthair cats.

Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.

The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the ERF gene cause variable craniosynostosis inherited in an autosomal dominant pattern. The reported ERF variants are largely loss-of-function, implying haploinsufficiency as a primary disease mechanism; however, ERF gene deletions have not been reported previously. Here we describe three probands with macrocephaly, craniofacial dysmorphology, and global developmental delay. Clinical genetic testing for fragile X and other relevant sequencing panels were negative; however, chromosomal microarray identified heterozygous deletions (63.7-583.2 kb) on Chromosome 19q13.2 in each proband that together included five genes associated with Mendelian diseases (ATP1A3, ERF, CIC, MEGF8, and LIPE). Parental testing indicated that the aberrations were apparently de novo in two of the probands and were inherited in the one proband with the smallest deletion. Deletion of ERF is consistent with the reported loss-of-function ERF variants, prompting clinical copy-number-variant classifications of likely pathogenic. Moreover, the recent characterization of heterozygous loss-of-function CIC sequence variants as a cause of intellectual disability and neurodevelopmental disorders inherited in an autosomal dominant pattern is also consistent with the developmental delays and intellectual disabilities identified among the two probands with CIC deletions. Taken together, this case series adds to the previously reported patients with ERF and/or CIC sequence variants and supports haploinsufficiency of both genes as a mechanism for a variable syndromic cranial phenotype with developmental delays and intellectual disability inherited in an autosomal dominant pattern.