Cranial vault suspension for basilar invagination in patients with open cranial sutures: technique and long-term follow-up. Illustrative case.

BACKGROUND: Hajdu-Cheney syndrome (HCS) is an extremely rare genetic disorder characterized by severe osteoporosis, scoliosis, and persistent open cranial sutures (POCSs). Neurological complications include hydrocephalus, Chiari I malformations, and basilar invagination (BI). Surgical intervention in HCS is challenging due to severe osteoporosis, ligamentous laxity, POCSs, and extreme skeletal deformities. Herein, the authors present a case of BI repair in a patient with HCS and POCSs, requiring a novel technique of cranial vault suspension, with long-term follow-up. OBSERVATIONS: A 20-year-old female with HCS and progressive symptomatic BI, initially managed with posterior fossa decompression and occipital to cervical fusion, subsequently required cranial vault expansion due to symptomatic shifting of her cranium secondary to POCS. This custom construct provided long-term stabilization and neurological improvement over a follow-up duration of 9.5 years. A literature review performed revealed three other cases of surgical intervention for BI in patients with HCS and clinicopathological characteristics of each case was compared to the present illustrative case. LESSONS: POCSs in patients with BI complicate traditional surgical approaches, necessitating more invasive techniques to secure all mobile cranial parts for optimal outcomes. Using this cranial vault suspension and fusion technique results in lasting neurological improvement and construct stability.

Quality of life in a 61-year-old paraplegic patient with myelomeningocele: illustrative case.

BACKGROUND: Limited data exist on survival of patients with myelomeningocele (MM) into late adulthood. Patients born prior to 1975 received less surgical treatment and demonstrated poorer survival. Patients born after 1975 show lower mortality rates because of advancements in prenatal care, diagnostics, technology, and treatment. The increasing number of adult patients with MM demonstrates these successes but also highlights the need for a better understanding of both medical management and quality-of-life issues in this population. OBSERVATIONS: A 61-year-old woman presented to the hospital with a functional level T12, vertebral level low lumbar MM that had developed a tissue defect with a cerebrospinal fluid leak. The patient had her MM closed at birth and since then had received no additional surgical treatment or repair of her MM defect. After successful treatment, the patient continues to follow up for additional decompression procedures and admits to a good quality of life. LESSONS: This case adds to the limited literature describing management of patients with MM over the age of 60. The patient's self-described good quality of life and longevity align with reports of importance of independence, level of education, bowel management, ability to provide self-care, strong interpersonal relationships, and absence of shunted hydrocephalus.

Parasitic rachipagus conjoined twin: case report.

A parasitic twin represents a rare developmental anomaly in which an asymmetrical, nonviable conjoined twin is attached to the host body at the time of birth. Rachipagus is among the rarest of conjoined twin subtypes and typically features a parasitic twin mass attached at the spine. Herein, the authors review the literature and describe the case of a 9-month-old girl presenting with a rachipagus parasitic twin consisting of a fully developed set of lower extremities originating from the midline upper back. After a complete workup to delineate parasite and autosite anatomy, the parasitic twin mass was successfully excised by a multidisciplinary team of surgeons, and the resulting defect was closed in a single stage.

Use of 5-aminolevulinic acid for visualization and resection of a benign pediatric brain tumor.

5-Aminolevulinic acid has been used successfully to facilitate resection of adult malignant gliomas. The authors report their experience in the treatment of a 9-year-old girl who underwent fluorescence-guided resection of a right temporal lobe pleomorphic xanthoastrocytoma using 5-aminolevulinic acid. Intraoperatively, the residual tumor fluoresced, allowing for better visualization. No serious side effects or complications occurred.