Browse

You are looking at 1 - 10 of 64 items for :

  • Refine by Access: all x
Clear All
Open access

Intrathecal baclofen therapy for Lesch-Nyhan disease: illustrative case

Takeshi Satow, Masafumi Ogawa, and Taro Komuro

BACKGROUND

Lesch-Nyhan disease (LND) is a very rare metabolic disorder involving the purine salvage pathway. LND manifests hyperuricemia, self-mutilation, cognitive impairment, and movement disorders such as spasticity and dystonia, whose control is difficult pharmaceutically.

OBSERVATIONS

Intrathecal baclofen (ITB) therapy was received by a 22-year-old male for generalized dystonia. His paroxysmal abnormal dystonic posturing reduced after surgery, making the task of caregivers easier despite the unchanged assignment on the dystonia scale during a follow-up period of 4 years.

LESSONS

ITB may be a safe and feasible option for dystonic symptoms and difficulty with nursing care in patients with LND.

Open access

Bilateral squamosal synostosis: unusual presentation of chromosome 1p12–1p13.3 deletion. Illustrative case

Sarut Chaisrisawadisuk, Nithiwat Vatanavicharn, Verayuth Praphanphoj, Peter J. Anderson, and Mark H. Moore

BACKGROUND

Squamosal sutures are minor sutures of the human skull. Early isolated fusion of the sutures (squamosal synostosis) is rarely found.

OBSERVATIONS

The authors report a case of a girl who presented with an abnormal head shape and bilateral squamosal synostosis. Genetic testing revealed a chromosome 1p12–1p13.3 deletion. She has been managed with conservative treatment of the synostosis. She has global developmental delay and multiple anomalies due to the chromosome abnormality.

LESSONS

Isolated squamosal suture synostosis could be an uncommon feature of chromosome 1p12–1p13.3 deletion.

Open access

Management of a cervical spine neurenteric cyst via an anterior surgical approach: illustrative case

Arsalaan Salehani, Sasha Howell, and Daniel Harmon

BACKGROUND

Central nervous system neurenteric cysts (NCs) represent a rare entity thought to arise from failure of the separation of endodermal and neuroectodermal elements during week 3 of embryogenesis. They account for 0.7–1.3% of all spinal cord lesions and are typically intradural extramedullary lesions located near the cervicothoracic junction. Most NCs are associated with multisystem malformation disorders, making a solitary extramedullary NC a rare entity.

OBSERVATIONS

A 45-year-old man presented with progressive right lower-extremity weakness and an inability to walk. Cervical spine magnetic resonance imaging demonstrated an approximately 1.6 × 1.1 × 2.7–cm, T2 hyperintense, nonenhancing, intradural, extramedullary cystic lesion at the level of C6–7 eccentric to the right with atrophy of the spinal cord. An anterior surgical approach was used for resection of the cyst in totality with C6–7 corpectomies and anterior plating and fixation from C5 to T1. Postoperatively at 1 month, the patient denied any significant neck or arm pain and demonstrated improving right lower-extremity strength, allowing some funcitonal independence.

LESSONS

A solitary, extramedullary cervical NC is a rare entity, with a posterior surgical approach for resection primarily described in the literature. The authors present anterior corpectomy and plating with fixation as a viable surgical approach for this rare pathology.

Open access

Noninvasive evaluation of craniovertebral junction instability in 2 patients following Chiari decompression with rigid C-collar immobilization: illustrative cases

Kerrin S. Sunshine, Theresa A. Elder, and Krystal L. Tomei

BACKGROUND

The complex Chiari malformation has been identified in a subset of Chiari patients at higher risk for worsening symptoms following Chiari decompression. Although parameters such as the clivoaxial angle and the perpendicular distance of the dens to the line from the basion to the inferoposterior part of the C2 body (pBC2) have been evaluated to help with the prediction of risk, the decision to pursue an occipitocervical fusion in lower-risk patients does not come without inherent risk.

OBSERVATIONS

The authors present 2 patients who had symptoms of worsening ventral brainstem compression following Chiari decompression, neither of whom was categorized in the highest risk category for occipitocervical instability. In addition, neither patient had gross instability on radiographic imaging. A trial with rigid C-collar immobilization provided relief of symptoms in both patients and allowed reassurance of the likelihood of success of occipitocervical fusion.

LESSONS

In patients without clear radiographic instability following Chiari decompression, a C-collar trial may provide a noninvasive option for assessing the potential success of occipitocervical fusion.

Open access

Spontaneous regression of a vein of Galen aneurysmal malformation in a pediatric patient: illustrative case

Kevin K. Kumar, Linden E. Fornoff, Robert L. Dodd, Michael P. Marks, and David S. Hong

BACKGROUND

Vein of Galen aneurysmal malformations (VGAMs) are rare congenital intracranial vascular lesions that represent 30% of all pediatric vascular anomalies. These lesions are associated with severe manifestations, including congestive heart failure, hydrocephalus, and spontaneous hemorrhage. The mainstay of management is medical stabilization followed by endovascular embolization of the lesion. Although VGAM was first reported in 1937, there are few published cases demonstrating spontaneous regression of the lesion.

OBSERVATIONS

The authors report the case of a 31-month-old female who presented with an incidentally found VGAM. After initial evaluation, including magnetic resonance imaging and angiography, the patient was lost to follow-up. Upon her return to the clinic at age 12 years, the previously identified VGAM was absent, indicative of involution of the lesion. The patient remained asymptomatic and met appropriate developmental milestones during this interval.

LESSONS

This report adds a rare case of the spontaneous resolution of VGAM to the literature. This case may suggest the presence of VGAMs that are asymptomatic, undetected, and regress within the pediatric population. Future studies may benefit from identifying imaging and angiographic findings predictive of spontaneous regression. There may be a role for conservative management in particular cases of asymptomatic and medically stable children with VGAMs.

Open access

Successful neurosurgical separation of conjoined spinal cords in pygopagus twins: illustrative cases

Chisato Yokota, Naoki Kagawa, Yohei Bamba, Yuko Tazuke, Yasuji Kitabatake, Tomoyoshi Nakagawa, Ryuichi Hirayama, Hiroomi Okuyama, and Haruhiko Kishima

BACKGROUND

Conjoined twins represent a rare congenital malformation. Pygopagus twins are fused at the sacrum and perineum, with union of the spine. The authors report a successful separation of a unique case of pygopagus twins sharing a U-shaped spinal cord, which the authors identified through aberrant nerves by intraoperative physiological spinal root examination.

OBSERVATIONS

The 6-month-old male pygopagus conjoined twins, who were diagnosed in the prenatal period, underwent separation. They had a single dural sac containing a U-shaped continuous spinal cord; their filum terminale appeared completely fused and the anatomical border of the spinal cord was not distinguishable. A triggered electromyogram (tEMG) was used on each nerve root to determine which belonged to one twin versus the other, to detect nerve cross, and to identify functional midline cleavage. Finally, the twins were separated after spinal division. Both twins recovered uneventfully with no lower limb neurological deficits or walking impairment for 16 months.

LESSONS

Pygopagus twins with a conjoined spinal cord are very rare, but a good long-term functional prognosis can be expected with successful separation. Intraoperative tEMG is useful in spinal separation surgery for twins with a conjoined spinal cord.

Open access

Blistering skin reaction with Mastisol in a patient with spina bifida: illustrative case

Robin M. Bowman, Vineeth Thirunavu, and Sandi Lam

BACKGROUND

Patients with spina bifida have repeated interactions with the healthcare system and often require multiple surgeries throughout their lifetime. Latex precautions are often indicated owing to the high risk of anaphylactic reactions. The choice of dressing for these patients represents an opportunity for learning and standardization if appropriate. The authors discuss the various cases of skin reactions to Mastisol in the literature in comparison with their case and explore the possible mechanisms underlying this skin reaction given the high prevalence of latex allergy in patients with spina bifida.

OBSERVATIONS

The authors present the case of a 17-year-old girl with a history of spina bifida and shunted hydrocephalus who underwent a shunt externalization operation and subsequently developed an allergic contact dermatitis reaction to Mastisol liquid adhesive. Topical steroid cream was then administered, and signs and symptoms resolved over the next 3 days.

LESSONS

The choice of dressing should be considered carefully in patients with spina bifida given their repeated exposures and possible sensitivities. The authors aim to increase the awareness of the possibility of Mastisol-induced skin reactions in patients with spina bifida and set a foundation for future studies to investigate the relationship between latex allergy and sensitization to Mastisol.

Open access

Anterior sacral meningocele repair assisted by intraoperative intrathecal fluorescence and 3D printing model: illustrative case

Yu-Chaing Yeh, Ya-Jui Lin, Chih-Hua Yeh, Pao-Shiu Hsieh, and Chieh-Tsai Wu

BACKGROUND

Marfan syndrome is rarely accompanied by anterior sacral meningocele (ASM) resulting from erosion of the sacrum by dural ectasia. ASM may induce symptoms due to severe mass effects. ASM may also mimic ovarian cysts, and the risk of cerebrospinal fluid (CSF) leakage is high if spontaneous rupture of the cyst occurs. In this study, the authors presented a rare case of ASM with iatrogenic CSF leakage in a 34-year-old woman with suspected Marfan syndrome.

OBSERVATIONS

The patient initially presented with a giant ASM that was first misdiagnosed as an ovarian cyst. Previously, it had been partially resected, which was followed by iatrogenic CSF leakage. Symptoms of intracranial hypotension, including postural headache and dizziness, developed within 1 month. Brain magnetic resonance imaging (MRI) showed pituitary enlargement, bilateral subdural effusion, and tonsillar herniation. Preoperative computed tomography myelography provided three-dimensional (3D) examination of the deformed sacrum and CSF leakage site. Transabdominal approaches led to primary repair, and repair of the meningocele was achieved by intraoperative fluorescein fluorescence and 3D printed model–guided polymethyl methacrylate bone cement reconstruction. No CSF leakage or recurrent ASM was found at the 1.5-year follow-up visit.

LESSONS

Intraoperative intrathecal fluorescence and 3D-printed models are useful for ASM repair. Preoperative MRI is helpful for differentiating ASM from other causes of a huge pelvic mass, including ovarian cyst.

Open access

Neuroimaging findings and pathophysiology of dorsal spinal arachnoid webs: illustrative case

Nancy Pham, Julius O. Ebinu, Tejas Karnati, and Lotfi Hacein-Bey

BACKGROUND

Spinal arachnoid webs are uncommon and difficult to diagnose, especially because causative intradural transverse bands of arachnoid tissue are radiographically occult. Left untreated, arachnoid webs may cause progressive, debilitating, and permanent neurological dysfunction. Conversely, more than 90% of patients may experience rapid neurological recovery after resection, even with a prolonged duration of presenting symptoms. Indirect imaging signs such as spinal cord indentation and compression with cerebrospinal fluid (CSF) flow alteration provide crucial diagnostic clues that are critical in guiding appropriate management of such patients.

OBSERVATIONS

The authors reported a patient with no significant medical history who presented with back pain, progressive lower extremity weakness, gait ataxia, and bowel and bladder incontinence. They discussed multimodality imaging for determining the presence of arachnoid webs, including magnetic resonance imaging, phase-contrast CSF flow study, computed tomography myelography, and intraoperative ultrasound. They also discussed the detailed anatomy of the spinal subarachnoid space and a plausible pathophysiological mechanism for dorsal arachnoid webs.

LESSONS

The authors report on a patient who underwent comprehensive imaging evaluation detailing the arachnoid web and whose subsequent anatomical localization and surgical treatment resulted in a full neurological recovery.

Open access

Cavum trigeminale cephalocele associated with intracranial hypertension in an 18-month-old child: illustrative case

Giovanni Miccoli, Domenico Cicala, Pietro Spennato, Alessia Imperato, Claudio Ruggiero, and Giuseppe Cinalli

BACKGROUND

Cavum trigeminale cephaloceles (CTCs) are characterized by a cystic appearance and extension of the posterolateral aspect of Meckel’s cave into the superomedial portion of the petrous apex. A possible mechanism is a transient or sustained increase of intracranial pressure transmitted to Meckel’s cave, leading to its secondary herniation, in the presence of predisposing local factors. The majority of CTCs are incidental findings. Among symptomatic cases, headache, trigeminal neuralgia, cerebrospinal fluid leak, vertigo, ataxia, facial numbness, hearing loss, diplopia, and other visual disturbances have been described.

OBSERVATIONS

The authors describe a case of an 18-month-old male patient referred to their hospital with drowsiness, vomiting, left cranial nerve VI palsy, and papilledema. Neuroradiological investigation revealed the presence of a CTC with a swollen aspect of the left pontine hemisection and indirect signs of intracranial hypertension. The patient was managed with implantation of a ventriculoperitoneal shunt.

LESSONS

CTCs are rare lesions that are difficult to recognize on neuroimaging, in which they can be mistaken for tumoral or inflammatory lesions. The most frequent asymptomatic forms should be considered as “leave-me-alone” lesions. In cases of intracranial hypertension, according to a supposed theory on the origin of CTCs, the authors recommend treating only the intracranial hypertension instead of performing more invasive surgical procedures, especially in pediatric patients.