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Open access

A child with unilateral abducens nerve palsy and neurovascular compression in Chiari malformation type 1 resolved with posterior fossa decompression: illustrative case

Olivia A Kozel, Belinda Shao, Cody A Doberstein, Natalie Amaral-Nieves, Matthew N Anderson, Gita V Harappanahally, Michael A Langue, and Konstantina A Svokos

BACKGROUND

Unilateral cranial nerve (CN) VI, or abducens nerve, palsy is rare in children and has not been reported in association with Chiari malformation type 1 (CM1) in the absence of other classic CM1 symptoms.

OBSERVATIONS

A 3-year-old male presented with acute incomitant esotropia consistent with a unilateral, left CN VI palsy and no additional neurological symptoms. Imaging demonstrated CM1 without hydrocephalus or papilledema, as well as an anterior inferior cerebellar artery (AICA) vessel loop in the immediate vicinity of the left abducens nerve. Given the high risk of a skull base approach for direct microvascular decompression of the abducens nerve and the absence of other classic Chiari symptoms, the patient was initially observed. However, as his palsy progressed, he underwent posterior fossa decompression with duraplasty (PFDD), with the aim of restoring global cerebrospinal fluid dynamics and decreasing possible AICA compression of the left abducens nerve. Postoperatively, his symptoms completely resolved.

LESSONS

In this first reported case of CM1 presenting as a unilateral abducens palsy in a young child, possibly caused by neurovascular compression, the patient’s symptoms resolved after indirect surgical decompression via PFDD.

Open access

Cartilage within lipomyelomeningocele and ulnar longitudinal deficiency syndrome as VACTERL association, alliance in SHH/GLI3, and Wnt pathway: illustrative case

Mikael Aseged Shimekit, Ermias Fikru Yesuf, Simon Mulugeta Teferi, and Mahlet Getachew Lemma

BACKGROUND

Lipomyelomeningocele associated with an ulnar club hand in the spectrum of VACTERL association ([costo-]vertebral abnormalities; anal atresia; cardiac defects; tracheal-esophageal abnomalities, including atresia, stenosis, and fistula; renal and radial abnormalities; limb abnormalities; single umbilical artery) is a very rare and infrequently reported phenomenon. Within the fat mass of the lipoma, it is not common to find a well-defined cartilaginous mass with no attachments to the surrounding tissue.

OBSERVATIONS

The authors present the case of a 3-month-old male with low-back swelling that was off-center to the left, accompanied by a left short forearm displaying outward bowing. Echocardiography showed an atrial septal defect. This rare VACTERL association comprises lipomyelomeningocele, atrial septal defect, and ulnar longitudinal deficiency syndrome. During surgical intervention for the lipoma, a well-defined cartilaginous mass was discovered within the adipose tissue.

LESSONS

The manifestation of VACTERL association can be partially explained by the Shh/Gli and Wnt pathway defects. It is prudent to screen children with neural tube defects to be aware of any associated syndromes. This case is very rare, and the literature has contained no prior report on the VACTERL association of lipomyelomeningocele, atrial septal defect, and ulnar longitudinal deficiency.

Open access

Epidural lipomatosis with foci of hemorrhage and acute compression of the spinal cord in a child with CLOVES syndrome: illustrative case

Dmytro Ishchenko, Iryna Benzar, and Andrii Holoborodko

BACKGROUND

Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies, and/or scoliosis (CLOVES) syndrome is the most recently described combined vascular anomaly characterized by congenital excessive growth of adipose tissue, vascular malformations, epidermal nevi, and skeletal deformities. This condition exhibits a significant variability in clinical manifestations and a tendency for rapid progression and affects extensive anatomical regions. Information regarding the association of epidural lipomatosis with low-flow venous lymphatic malformations is rare, with few reports in the literature.

OBSERVATIONS

The authors present a case of a 6-year-old girl who was admitted to the emergency department complaining of rapidly progressing weakness in her lower extremities and partial loss of sensation in the inguinal area. Radiologically, an extradural mass was identified at the T2–6 level, causing acute spinal cord compression. Urgent decompression and partial resection of the mass were performed. Despite satisfactory intraoperative hemo- and lymphostasis, postoperative lymphorrhea/seroma leakage was encountered as a delayed complication and was managed conservatively.

LESSONS

CLOVES syndrome is characterized by the combination of various clinical symptoms, not all of which are included in the abbreviation, as well as a progressively deteriorating course, the emergence of new symptoms, and complications throughout the patient’s life. This necessitates ongoing monitoring of such patients.

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

Postnatal myelomeningocele closure in smallest reported neonate: illustrative case

Momin M Mohis, Kevin Cordeiro, Sarah Larson, Catharine Garland, and James A Stadler III

BACKGROUND

Myelomeningocele (MMC) is the most serious form of spina bifida, a congenital defect in neural tube development. Defect closure in a patient with an extremely low birth weight presents unique challenges and risks; lower birth weight is associated with multiple organ system concerns, homeostasis is difficult, and local tissue is underdeveloped. To the authors’ knowledge, the present case is the lowest reported weight (490 g) for a neonate with postnatal MMC repair.

OBSERVATIONS

A preterm male with a prenatally diagnosed lumbosacral MMC and associated Chiari malformation type II was born at 23 weeks 1 day to a 29-year-old mother, gravidity 6 parity 4. The patient was medically stabilized and underwent MMC closure on day of life 5. His weight was 490 g at the time of this repair, and he did not have any surgical complications. At age 16 months, he underwent endoscopic third ventriculostomy with choroid plexus cauterization; he has not required any further hydrocephalus treatments since the last follow-up at 30 months of age.

LESSONS

To the authors’ knowledge, this case is the lowest birth weight ex utero MMC closure reported in the literature. Challenges of prematurity and size required appropriate preoperative stabilization, careful hemostasis and temperature regulation, and meticulous surgical technique.

Open access

Successful surgical management of a superior cerebellar artery aneurysm in a patient with Marfan syndrome: illustrative case

Fangjun Liu, Mengqing Hu, Daling Ruan, Xiaoling Ruan, Ting Lei, and Xiang’en Shi

BACKGROUND

Marfan syndrome, a connective tissue disorder, poses unique challenges in neurosurgery, given the fragility of vascular structures. Superior cerebellar artery (SCA) aneurysms in patients with the syndrome are rare and present distinct surgical difficulties, necessitating innovative approaches.

OBSERVATIONS

A 29-year-old male with Marfan syndrome presented with a subarachnoid hemorrhage from a ruptured SCA aneurysm. Given the lack of a defined aneurysm neck and the small diameter of the SCA, standard clipping and endovascular therapies were unsuitable. A microsurgical approach using microsutures was successfully employed, effectively managing the aneurysm while preserving the parent artery.

LESSONS

This case underscores the efficacy of the microsuture technique in complex neurosurgical scenarios, particularly in patients with connective tissue disorders such as Marfan syndrome. The adaptability of surgical strategies, as demonstrated in this case, is crucial for achieving successful outcomes in patients with unique anatomical challenges.

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

Enlarged tumefactive perivascular, or Virchow-Robin, spaces and hydrocephalus: do we need to treat? Illustrative cases

Belal Neyazi, Vanessa Magdalena Swiatek, Klaus-Peter Stein, Karl Hartmann, Ali Rashidi, Seraphine Zubel, Amir Amini, and I. Erol Sandalcioglu

BACKGROUND

Perivascular spaces (PVSs) are spaces in brain parenchyma filled with interstitial fluid surrounding small cerebral vessels. Massive enlargements of PVSs are referred to as “giant tumefactive perivascular spaces” (GTPVSs), which can be classified into three types depending on their localization. These lesions are rare, predominantly asymptomatic, and often initially misinterpreted as cystic tumor formations. However, there are several reported cases in which GTPVSs have induced neurological symptoms because of their size, mass effect, and location, ultimately leading to obstructive hydrocephalus necessitating neurosurgical intervention. Presented here are three diverse clinical presentations of GTPVS.

OBSERVATIONS

Here, the authors observed an asymptomatic case of type 1 GTPVS and two symptomatic cases of type 3 GTPVS, one causing local mass effect and the other hydrocephalus.

LESSONS

GTPVSs are mostly asymptomatic lesions. Patients without symptoms should be closely monitored, and biopsy is discouraged. Hydrocephalus resulting from GTPVS necessitates surgical intervention. In these cases, third ventriculostomy, shunt implantation, or direct cyst fenestration are surgical options. For patients presenting with symptoms from localized mass effect, a thorough evaluation for potential neurosurgical intervention is imperative. Follow-up in type 3 GTPVS is recommended, particularly in untreated cases. Given the infrequency of GTPVS, definitive guidelines for neurosurgical treatment and subsequent follow-up remain elusive.

Open access

Spontaneous sphenoid sinus meningocele with associated amenorrhea and headache: illustrative case

Deveney Franklin, Ali S Yamani, Andre E Boyke, Simon A Menaker, Dennis Tang, and Adam N Mamelak

BACKGROUND

Developmental meningoceles of the sphenoid sinus are uncommon. When encountered, they are often associated with cerebrospinal fluid (CSF) rhinorrhea.

OBSERVATIONS

The authors present the case of a 27-year-old female with a large meningocele eroding through the sella turcica and sphenoid sinus into the nasopharynx. The patient presented with intractable headaches and amenorrhea without CSF rhinorrhea.

LESSONS

The patient underwent an endoscopic endonasal transsphenoidal reduction of the meningocele with reelevation of the pituitary gland and skull base reconstruction with abdominal fat graft and nasoseptal flap.

Open access

Laser interstitial thermal therapy as a radiation-sparing approach for central nervous system tumors in children with cancer predisposition syndromes: report of a child with Li-Fraumeni syndrome. Illustrative case

Sergio W Guadix, Abhinav Pandey, Carson Gundlach, Michael Walsh, Nelson S Moss, and Mark M Souweidane

BACKGROUND

Ionizing radiation and alkylating chemotherapies increase secondary malignancy risk in patients with cancer predisposition syndromes (CPSs), such as Li-Fraumeni syndrome. Laser interstitial thermal therapy (LITT) is a minimally invasive ablation technique that has not been associated with mutagenic risks. We describe the case of a child with LFS and a history of treated choroid plexus carcinoma (CPC) who developed a second primary glial tumor that was safely treated with magnetic resonance imaging (MRI)–guided LITT.

OBSERVATIONS

A 4-year-old male with left parietal World Health Organization grade III CPC associated with a TP53 germline mutation was evaluated. The patient underwent neoadjuvant platinum-based chemotherapy before near-total resection, followed by 131I-8H9 immunotherapy and 30 fractions of 54-Gy proton radiotherapy. He remained without evidence of disease for 2 years before developing a slow-growing mass adjacent to the left frontal ventricular horn. Stereotactic biopsy revealed a glial neoplasm. Given the nonsuperficial location and focality of the lesion, MRI-guided LITT was performed for ablative therapy. There were no complications, and 2 years of surveillance revealed continued retraction of the ablated tumor focus and no subsequent disease.

LESSONS

Alternatives to mutagenic therapies for brain tumors should be explored for patients with CPS. LITT paired with imaging surveillance is a logical strategy to ensure durable outcomes and mitigate treatment-related secondary neoplasms.