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Open access

Surviving against the odds: exploring the clinical and radiological features of iniencephaly compatible with life. Illustrative case

Hassan Kadri, Mazen Dughly, Mohamad Shehadeh Agha, Raed Abouharb, Rostom Mackieh, Sameer Bakleh, and Thea Kadri

BACKGROUND

Iniencephaly is a rare neural tube defect (NTD) characterized by deformities in the occiput and inion, along with rachischisis in the cervical and thoracic spine, resulting in the head appearing in retroflexion.

OBSERVATIONS

This report details the case of a female newborn who underwent surgery for an encephalocele. She survived up to 6 months, exhibiting good overall health, although she displayed physical abnormalities, including facial deformity, a short neck, and minor spasms in all limbs. Both cardiovascular and abdominal assessments remained stable, and imaging revealed defects in the occipital bone, a large cephalocele, and spinal dysraphism.

LESSONS

Although iniencephaly is generally incompatible with life, a few cases have been reported otherwise. Our patient, one of these notable exceptions, remains alive at 6 months old, possibly due to the lack of major vascular deformities. However, she does exhibit significant psychomotor retardation.

Open access

Treatment of an anterior cervicothoracic myelomeningocele together with spine deformity correction in a child: illustrative case

Hudin N Jackson, Nealen Laxpati, and David F Bauer

BACKGROUND

Anterior cervicothoracic myelomeningoceles are a rare pathology. In reported cases, treatment has included shunting, isolated resection and repair without deformity correction, or isolated deformity correction without meningocele repair. The authors describe a pediatric patient with an anterior cervicothoracic myelomeningocele presenting with progressive neurological decline, who underwent simultaneous treatment of the myelomeningocele to detether the spinal cord and achieve major correction of the scoliotic deformity.

OBSERVATIONS

A 15-year-old girl was born with C7-T1-T2 hemivertebrae and anterior cervical myelomeningocele at C7–T1. She developed progressive cervical thoracic scoliosis, left hemiparesis initially, and additional right hemiparesis eventually. She underwent surgical repair via C7, T1, and T2 corpectomies with intradural detethering of the spinal cord. The scoliosis was treated with C7–T2 Ponte osteotomies and C2–T5 posterior fixation, followed by anterior reconstruction with a titanium cage and anterior plate from C6 to T3. The myelomeningocele was adequately treated with good correction of the patient’s deformity. The patient had postoperative improvement in her strength and solid arthrodesis on postoperative imaging.

LESSONS

The authors describe the successful treatment of an anterior cervicothoracic myelomeningocele and associated scoliosis in a child. This is a unique report of a combined strategy to achieve both deformity correction and detethering of the spinal cord.

Open access

Adult neuromuscular choristoma, a rare peripheral nerve pathology: illustrative case

Ashley Ricciardelli, Alex Flores, Hsiang-Chih Lu, Ekin Guney, Arie Perry, and Joey Grochmal

BACKGROUND

Neuromuscular choristomas (NMCs) are rare tumors involving aberrant intercalation of muscle fibers into peripheral nerves, most commonly the sciatic nerve. Although benign, these lesions risk developing into NMCs with desmoid-type fibrosis (NMC-DTFs), aggressive lesions potentially requiring amputation. Currently, information on NMCs and the link between NMCs and NMC-DTFs is limited in adults, with the majority of cases reported in children. We present the case of a 66-year-old male with a sciatic NMC alongside a Preferred Reporting Items for Systematic Reviews and Meta-Analyses–based systematic review of similar cases to better characterize this lesion in the adult population.

OBSERVATIONS

A male presented with 10 years of progressive left lower-extremity weakness and paresthesia, and a mildly enlarged proximal sciatic nerve was discovered on magnetic resonance imaging. He underwent left sciatic fascicular nerve biopsy, with histopathological examination identifying the lesion as an NMC. The literature review revealed that our case, alongside other cases of adults with NMCs, shared characteristics similar to NMCs in the pediatric population.

LESSONS

More comprehensive studies of adults with NMCs are needed, as the current literature contains limited information concerning disease course, diagnostic characteristics, and treatment. Furthermore, NMCs in adults should be handled with care because of the increased likelihood of transformation to NMC-DTF after surgical intervention.

Open access

The complex treatment paradigms for concomitant tethered cord and scoliosis: illustrative case

Rose Fluss, Riana Lo Bu, Andrew J Kobets, and Jaime A Gomez

BACKGROUND

Scoliosis associated with tethered cord syndrome is one of the most challenging spinal deformities to manage. Multiple surgical approaches have been developed, including traditional staged and concomitant procedures, spine-shortening osteotomies, and individual vertebral column resections.

OBSERVATIONS

A 10-year-old female presented with congenital kyphoscoliosis with worsening curve progression, tethered spinal cord, and a history of enuresis. The scoliosis had progressed to a 26° coronal curve and 55° thoracolumbar kyphosis. Preoperative magnetic resonance imaging of the spine revealed a tethered cord between the levels of L3–4 and a large kyphotic deformity at L1. The patient underwent laminectomy, during which intraoperative motor signals were lost. A planned hemivertebrectomy at L1 was performed prior to an L4 laminectomy, untethering of the filum terminale, and posterior spinal fusion from T11 to L2. After surgery, the patient experienced transient lower-extremity weakness, with her neurological function improving from baseline over the next 2 months. Ultimately, the goal of this surgery was to halt the progressive decline in motor function, which was successfully achieved.

LESSONS

Much remains to be learned about the treatment of this complicated disease, especially in the setting of concomitant scoliosis. This case serves to exemplify the complex treatment paradigms that exist when attempting to manage this clinical syndrome and that more remains to be learned.

Open access

Approaches to ventriculoperitoneal shunt scalp erosion: countersinking into the calvarium. Illustrative case

Denise Brunozzi, Melissa A LoPresti, Jennifer L McGrath, and Tord D Alden

BACKGROUND

Ventriculoperitoneal shunting (VPS) is a standard procedure for the treatment of hydrocephalus, and the management of its complications is common in the practice of pediatric neurosurgery. Shunt exposure, though a rare complication, can occur because of thin, fragile skin, a young patient age, protuberant hardware, poor scalp perfusion, and a multitude of other patient factors.

OBSERVATIONS

The authors report a complex case of VPS erosion through the scalp in a young female with Pfeiffer syndrome treated with external ventricular drainage, empirical antibiotics, and reinternalization with countersinking of replaced shunt hardware into the calvarium to prevent internal skin pressure points, reduce wound tension, and allow wound healing.

LESSONS

Recessing the shunt hardware, or countersinking the implant, into the calvarium is a simple technique often used in functional neurosurgical implantation surgeries, providing a safe surgical strategy to optimize wound healing in select cases in which the skin flap is unfavorable.

Open access

Vascular anomaly, lipoma, and polymicrogyria associated with schizencephaly: developmental and diagnostic insights. Illustrative case

Kevin K. Kumar, Angus Toland, Nancy Fischbein, Martha Morrell, Jeremy J. Heit, Donald E. Born, and Gary K. Steinberg

BACKGROUND

Schizencephaly is an uncommon central nervous system malformation. Intracranial lipomas are also rare, accounting for approximately 0.1% of brain “tumors.” They are believed to be derived from a persistent meninx primitiva, a neural crest–derived mesenchyme that develops into the dura and leptomeninges.

OBSERVATIONS

The authors present a case of heterotopic adipose tissue and a nonshunting arterial vascular malformation arising within a schizencephalic cleft in a 22-year-old male. Imaging showed right frontal gray matter abnormality and an associated suspected arteriovenous malformation with evidence of hemorrhage. Brain magnetic resonance imaging revealed right frontal polymicrogyria lining an open-lip schizencephaly, periventricular heterotopic gray matter, fat within the schizencephalic cleft, and gradient echo hypointensity concerning for prior hemorrhage. Histological assessment demonstrated mature adipose tissue with large-bore, thick-walled, irregular arteries. Mural calcifications and subendothelial cushions suggesting nonlaminar blood flow were observed. There were no arterialized veins or direct transitions from the arteries to veins. Hemosiderin deposition was scant, and hemorrhage was not present. The final diagnosis was consistent with ectopic mature adipose tissue and arteries with meningocerebral cicatrix.

LESSONS

This example of a complex maldevelopment of derivatives of the meninx primitiva in association with cortical maldevelopment highlights the unique challenges from both a radiological and histological perspective during diagnostic workup.

Open access

Giant anterior sacral meningocele associated with hydroureteronephrosis and renal injury: illustrative case

Lucas Loiola, Vinícius M. Henriques, Carlos A. S. Moreira, Vinícius Gregório, Fernando A. Vasconcelos, Alexandre M. Schmidt, and Fernando Guedes

BACKGROUND

Anterior sacral meningocele (ASM) is a defect in the closure of the neural tube. Patients can be asymptomatic or present with genitourinary, neurological, reproductive, or colorectal dysfunction. Magnetic resonance imaging (MRI) is the gold standard test because it can assess communication between the spinal subarachnoid space and the lesion and identify other abnormalities. Surgical correction is the definitive treatment because untreated cases have a mortality rate of more than 30%.

OBSERVATIONS

A 24-year-old woman with Marfan syndrome presented with polyuria, recurrent urinary tract infections, and renal injury for 3 months along with a globose abdomen, with a palpable mass in the middle and lower third of the abdomen that was massive on percussion. MRI showed an ASM consisting of two cystic lesions measuring 15.4 × 14.3 × 15.8 and 6.7 × 6.1 × 5.9 cm, respectively, compressing the distal third of the right ureter and causing a hydroureteronephrosis. Drainage and ligature of the cystic lesion were performed. The urinary outcome was excellent, with full recovery after surgery.

LESSONS

ASM should be suspected in all abdominal masses with progressive symptoms in the setting of Marfan syndrome. Computed tomography and MRI are important to investigate genitourinary anomalies or other types of dysraphism to guide the best surgical approach.

Open access

Premature spinal fusion after insertion of magnetically controlled growing rods for treatment of early-onset scoliosis: illustrative case

Anna H. Green, Andrzej Brzezinski, Terrence Ishmael, Stephen Adolfsen, and J. Andrew Bowe

BACKGROUND

Magnetically controlled growing rod (MCGR) systems have gained attention for their use in the treatment of early-onset scoliosis. Although traditional growing rods require frequent operations to lengthen the construct, MCGR allows for fewer open procedures and more frequent distractions by externally controlling rod elongation. Despite its appealing advantages, MCGR is not without limitations.

OBSERVATIONS

The authors describe a case of premature spinal autofusion before growing rod removal and termination of rod distraction.

LESSONS

This case highlights the limitations of MCGR systems, including length of use, body habitus restrictions, and risk of autofusion.