Outcomes of Microcatheter-Assisted Trabeculotomy for Glaucoma Associated With Sturge-Weber Syndrome and Phakomatosis Pigmentovascularis.

PURPOSE: To evaluate mid-term efficacy and safety of ab externo Microcatheter-assisted trabeculotomy (MAT) for early-onset glaucoma associated with Sturge-Weber syndrome (SWS) and phakomatosis pigmentovascularis (PPV). DESIGN: Retrospective, non-comparative, interventional case series. METHODS: Medical records of consecutive SWS- or PPV-associated glaucoma patients who had undergone ab externo MAT between August 2017 and April 2020 at Beijing Children's Hospital were reviewed. Success was defined as an intraocular pressure (IOP) of <21 mmHg with (qualified success) or without (complete success) the use of antiglaucoma medication. RESULTS: Overall, 13 eyes (12 patients) with SWS and 9 eyes (8 patients) with PPV were included, with a mean age of 12.8 ± 15.8 months at the time of surgery and a mean follow-up time of 39.5 ±10.4 months. Both the SWS (26.5 ± 5.3 mmHg at baseline vs 16.5 ± 5.0 mmHg at the last visit; P < .001) and PPV (29.2 ± 7.5 mmHg vs 23.4 ± 4.7 mmHg; P = .014) subsets achieved a statistically significant fall in IOP following surgery. The Kaplan-Meier survival rate of complete (qualified) success after 42 months was 76.2% (87.5%) and 22.2% (40.0%) for eyes with SWS and PPV, respectively. Complications were minimal. Phakomatosis pigmentovascularis was associated with worse surgical outcomes. CONCLUSIONS: Ab externo MAT is an effective and safe treatment for early-onset glaucoma associated with SWS, but a gradual increase in IOP over time was noted in some patients. Ab externo MAT has limited efficacy for early-onset glaucoma associated with PPV in the mid-term.

Neurosurgical management of patients with neurocutaneous melanosis: a systematic review.

OBJECTIVE: Neurocutaneous melanocytosis (NCM), also referred to as neurocutaneous melanosis, is a rare neurocutaneous disorder characterized by excess melanocytic proliferation in the skin, leptomeninges, and cranial parenchyma. NCM most often presents in pediatric patients within the first 2 years of life and is associated with high mortality due to proliferation of melanocytes in the brain. Prognosis is poor, as patients typically die within 3 years of symptom onset. Due to the rarity of NCM, there are no specific guidelines for management. The aims of this systematic review were to investigate approaches toward diagnosis and examine modern neurosurgical management of NCM. METHODS: A systematic review was performed using the PubMed database between April and December 2021 to identify relevant articles using PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. Search criteria were created and checked independently among the authors. Inclusion criteria specified unique studies and case reports of NCM patients in which relevant neurosurgical management was considered and/or applied. Exclusion criteria included studies that did not report associated neurological diagnoses and neuroimaging findings, clinical reports without novel observations, and those unavailable in the English language. All articles that met the study inclusion criteria were included and analyzed. RESULTS: A total of 26 extracted articles met inclusion criteria and were used for quantitative analysis, yielding a cumulative of 74 patients with NCM. These included 21 case reports, 1 case series, 2 retrospective cohort studies, 1 prospective cohort study, and 1 review. The mean patient age was 16.66 years (range 0.25-67 years), and most were male (76%). Seizures were the most frequently reported symptom (55%, 41/74 cases). Neurological diagnoses associated with NCM included epilepsy (45%, 33/74 cases), hydrocephalus (24%, 18/74 cases), Dandy-Walker malformation (24%, 18/74 cases), and primary CNS melanocytic tumors (23%, 17/74 cases). The most common surgical technique was CSF shunting (43%, 24/56 operations), with tethered cord release (4%, 2/56 operations) being the least frequently performed. CONCLUSIONS: Current management of NCM includes CSF shunting to reduce intracranial pressure, surgery, chemotherapy, radiotherapy, immunotherapy, and palliative care. Neurosurgical intervention can aid in the diagnosis of NCM through tissue biopsy and resection of lesions with surgical decompression. Further evidence is required to establish the clinical outcomes of this rare entity and to describe the diverse spectrum of intracranial and intraspinal abnormalities present.

Neurosurgical Considerations of Neurocutaneous Syndromes.

The phakomatoses are a group of genetic and acquired disorders characterized by neurologic, cutaneous, and often ocular manifestations, thus commonly referred to as neurocutaneous syndromes. In several of these conditions the underlying genetic pathophysiology has been elucidated, which will continue to play an important role in advancing therapeutic techniques. This article focuses on several examples of such neurocutaneous syndromes, with special attention to the relevant neurosurgical considerations of these patients.

Preoperative administration of propranolol reduced the surgical risks of PHACES syndrome in a 14-month-old girl.

PHACES syndrome is an uncommon neurocutaneous disorder first identified in 1996. Patients with PHACES syndrome often require surgical treatment for their anomalies, including intracranial vasculopathy, coarctation/interruption of the aorta, intracardiac defects, glaucoma/cataract and sternal defects. Risk factors associated with the symptoms of intraoperative/perioperative management include ischaemic stroke due to the cerebral vasculopathy, airway obstruction due to the subglottic/tracheal haemangiomas and massive bleeding due to the large haemangiomas. Recently, propranolol is considered as first-line therapy for patients with infantile haemangiomas (IHs). However, until now, there have been no reported cases of PHACES syndrome treated by propranolol to reduce the surgical risks associated with IH. In this report, we describe a case of a 14-month-old Japanese girl with PHACES syndrome treated by propranolol for IH before surgical closure of the ventricular septum defect. Oral administration of propranolol was effective in decreasing the size of IH, leading to the uneventful perioperative course.

Moyamoya syndrome and PHACE syndrome: clinical and radiographic characterization of the intracranial arteriopathy and response to surgical revascularization.

OBJECTIVE: PHACE syndrome (PHACES) has been linked to cervical and cerebral vascular anomalies, including persistent embryonic anastomoses and progressive steno-occlusive disease. However, no prior studies have documented the long-term response of PHACES patients with moyamoya disease to surgical revascularization with pial or myosynangiosis. The authors present their experience with 8 consecutive patients with PHACES and moyamoya disease. METHODS: Retrospective review of patients who underwent pial synangiosis revascularization for moyamoya disease with concurrent diagnosis of PHACES. RESULTS: A total of 8 patients out of 456 surgically treated moyamoya patients had a diagnosis of PHACES. All patients were female, and their average age at the time of surgical treatment was 9.3 years (range 1.8-25.8 years). Five patients had associated basilar artery anomalies or stenosis. All patients had symptomatic narrowing of the petrous segment of the internal carotid artery with tortuous collateralization. Three patients underwent unilateral pial or myo-synangiosis and 5 underwent bilateral procedures. The average hospital length of stay was 5.0 days (range 3-7 days). There were no postoperative complications. Follow-up ranged from 8 to 160 months (average 56 months). Seven of 8 patients have had follow-up angiograms and all had Matsushima grade A or B collateralization without progression of stenosis in other locations. All patients had reduced cortical FLAIR signal on 6-month follow-up MRI and no evidence of new radiographic or clinical strokes. CONCLUSIONS: Patients with moyamoya disease and PHACES had an intracranial arteriopathy characterized by ectactic anterior vasculature with concomitant basilar artery stenosis, and were all female. The patients had both radiographic and clinical responses to pial synangiosis. The surgical treatment of these patients can be challenging given facial hemangiomas located near the surgical field. Patients with unilateral disease did not have evidence of progression in other cerebral circulation during the given follow-up period.

Shunt Surgery for Neurocutaneous Melanosis with Hydrocephalus: Case Report and Review of the Literature.

BACKGROUND: Neurocutaneous melanosis is a rare phakomatosis characterized by large or multiple pigmented nevi and melanosis of the leptomeninges. It is often complicated by hydrocephalus due to melanotic deposits interfering with cerebrospinal fluid reabsorption in the basal cisterns or causing foraminal or aqueductal obstruction. In 10% of cases, it will be associated with the Dandy-Walker complex. CASE DESCRIPTION: We present the case of a 6-year-old girl with multiple congenital hairy nevi presenting with generalized tonic-clonic seizures, headache, and vomiting. Neuroimaging showed a communicating hydrocephalus associated with the Dandy-Walker variant, melanotic deposits in the amygdalae, thalami, and cortical sulci, and abnormal leptomeningeal enhancement. After undergoing ventriculoperitoneal shunt insertion, the symptoms of increased intracranial pressure abated. However, she again showed deterioration 1 month postoperatively due to progressive leptomeningeal spread suspicious for malignant degeneration. CONCLUSION: The results of the present case and the findings from a review of related data suggest that shunt insertion (ventriculoperitoneal or cystoperitoneal) is an effective palliative measure for patients with neurocutaneous melanosis with associated hydrocephalus. Despite treatment, however, the prognosis of these patients remains poor owing to malignant progression and leptomeningeal spread of lesions, in particular, in cases associated with the Dandy-Walker complex.

Open resection and laryngotracheal reconstruction in a case of subglottic hemangioma in PHACE syndrome.

We describe a 1 month old infant with PHACE syndrome who underwent successful management of subglottic hemangioma by open resection and laryngotracheal reconstruction using a thyroid ala graft. Propranolol is typically the treatment of choice for subglottic hemangiomas however, recent reports have suggested adverse complications with the use of propranolol in children with PHACE syndrome. The child had cerebral and cervical vascular anomalies associated with her PHACE syndrome making her at an increased risk of stroke with the use of propranolol.

Neurocutaneous Melanosis in an Adult Patient with Intracranial Primary Malignant Melanoma: Case Report and Review of the Literature.

BACKGROUND: To explore the clinical characteristics of neurocutaneous melanosis (NCM) in adult patients to help improve diagnosis and treatment of this disease, we present a rare case of an adult patient suffering from NCM with malignant melanoma, as well as a review of the relevant Chinese and English literature. CASE DESCRIPTION: The patient reported here plus the patients identified in our literature review total 30 adults with NCM (20 males [66.7%] and 10 females [33.3%]), age 19-65 years (average, 27.9 years). These include 24 cases of malignant melanoma (80.0%), 3 cases of melanocytoma (10.0%), 2 cases of diffuse melanocytosis (6.7%), and 1 case of unknown pathology (3.3%). Satellite nevi were reported in 25 cases (83.3%) and in 5 cases their presence was unknown (16.7%). Intracranial lesions were present in 28 cases (93.3%), and intraspinal lesions were present in 2 cases (6.7%). There are 4 cases of combined hydrocephalus (13.3%), and 2 cases of combined Dandy-Walker deformity (6.7%). CONCLUSIONS: NCM is a rare disease, especially in adults. With the onset of symptoms, the diagnosis is generally confirmed. In children with congenital giant nevus, regular periodic surveys of the central nervous system (brain and spinal cord) with magnetic resonance imaging or cerebrospinal fluid analysis should be performed to diagnose NCM. Active treatment should be undertaken to improve the prognosis.

Neurocutaneous Melanosis Presenting as Cavernous Hemangioma Persistent Abdominal Pain.

Neurocutaneous melanosis (NCM) is a rare congenital syndrome characterized by the presence of multiple congenital melanocytic nevi and the proliferation of melanocytes in the central nervous system. The authors present a 9-year-old Chinese boy whose clinical manifestations are intermittent headache for 2 months and persistent abdominal pain for 10 days. 3D-reconstruction computed tomography angiography image, digital subtraction angiography, and magnetic resonance imaging plus angiography (MRI+MRA) examinations results suggested that cavernoma at left frontal lobe potentially associated with hemorrhage. In addition, miliary abnormal signals were widely scattered on MRA image so that other malignant metastatic diseases cannot be ruled out. GI physical examination had not any abnormal findings, antispasmodic drugs were ineffective but antiepilepsy drugs were effective to abdominal pain. In surgery, no cavernoma was noticed but an accumulation of densely melanocytic mass located at the lesion on radiology images. The lesions spread along with perivascular of sylvian veins and leptomeningeal. Pathology investigation demonstrated brain metastatic malignant melanoma associated with hemosiderosis. The lesion of brain parenchyma was totally removed but the spread lesions could not be treated with surgery. Adjuvant radiotherapy was performed but failed to control the malignant development, still the patient died in 3 months postinitial operation. The authors conclude that abdominal pain was a manifestation of epilepsy related to the frontal lobe lesion. Neurocutaneous melanosis is a rare disease, brain metastases result in abdominal pain is rare even more, and it is worth the attention of clinicians.

Medium-sized congenital melanocytic nevus of the forehead, glabella and temple – surgical treatment and long-term follow-up.

Congenital melanocytic nevi can be stigmatising for the patient. Larger nevi bear an increased risk for melanoma development. Large congenital melanocytic nevi may be a symptom of neurocutaneous melanosis. We report on a 5-year-old boy with an extensive hair-bearing facial congenital melanocytic nevus, covering forehead, glabella and temple region associated with unilateral brow and blepharoptosis. The lesion was excised en bloc. The resulting defect had been closed by full thickness skin graft. Healing was unremarkable and long-term follow-up over 13 years demonstrated a satisfying esthetic and functional outcome. There was no evidence of melanoma development. Surgery is an option for disfiguring larger congenital melanocytic nevi as long as esthetics and function can be preserved. Long-term follow-up is recommended due to the increased risk of melanoma.

PHACE syndrome with lip haemangioma, microphthalmos and persistent fetal vasculature.

An 11-month-old baby girl presented with white reflex in her left eye. On examination, there was a 6.5×5 mm(2)haemangioma present over her face involving on her lower lip. Systemic examinations were within normal limits. The left eye was small, with an axial length of 16.08 mm and had a cataract. Ultrasonography of the left eye was suggestive of the presence of a vascular stalk, persistent hyperplasia of a primary vitreous, or persistent fetal vasculature with vitreous haemorrhage. On MRI, the left eye was small with vitreous haemorrhage. Left eye lens aspiration was performed and the bleeding vascular stalk behind the lens was cauterised with diathermy. The right eye was normal. The patient was diagnosed as having PHACE syndrome (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and other cardiac defects, and Eye abnormalities syndrome). On follow-up, she was able to follow light with her left eye.

Bilateral pial synangiosis in a child with PHACE syndrome.

The acronym PHACE has been used to denote a constellation of abnormalities: posterior fossa anomalies, facial hemangiomas, arterial anomalies, cardiac anomalies, and eye abnormalities. Approximately 30% of patients with large facial hemangiomas have PHACE syndrome, with the vast majority having intracranial arteriopathy. Few reports characterize neurological deterioration from this intracranial arteriopathy, and even fewer report successful treatment thereof. The authors report on a case of a child with PHACE syndrome who presented with an ischemic stroke from a progressive intracranial arteriopathy and describe her successful treatment with bilateral pial synangiosis. An 8-month old girl diagnosed with PHACE syndrome was found to have bilateral internal carotid artery stenosis. Although initially asymptomatic, a few months after diagnosis she suffered a right frontal and parietal stroke. MRI and cerebral angiography investigations demonstrated progressive intracranial arterial stenosis and occlusion. The patient then underwent indirect cerebral revascularization surgery. At 2-year follow-up, she exhibited clinical improvement with persistent speech and motor developmental delay. Follow-up MRI and cerebral angiography showed no new ischemic events and robust extensive vascular collateralization from surgery. PHACE syndrome is an uncommon disease, and affected patients often have cerebral arteriopathy. Although the underlying natural history of cerebral arteriopathy in PHACE remains unclear, cerebral revascularization may represent a potential therapy for symptomatic patients.

Anesthesia for aortic reconstruction in a child with PHACE syndrome.

PHACE syndrome is a neurocutaneous syndrome characterized by the association of large cutaneous hemangiomas and the cardiac and cerebral vascular anomalies. We report a 6-year-old female with PHACE syndrome presented with left facial hemangiomas, cystic lesion in the cerebral posterior fossa, coarctation of the aorta, aplasia of the left vertebral artery and stenosis of the left internal carotid artery. Surgical repair of the aorta with left heart bypass under beating heart was scheduled. We monitored regional cerebral oxygen saturation (rSO2) with infrared spectroscopy in order to detect cerebral hypoperfusion. A decrease of rSO2 ipsilateral to the cerebrovascular anomalies occurred during anastomosis of the aorta, which was treated by reducing the flow rate of left heart bypass and by increasing the inhalational oxygen concentration. As children with PHACE syndrome are frequently accompanied with cerebrovascular anomalies and at a risk of cerebral hypoperfusion, prevention of cerebral hypoperfusion is crucially important during general anesthesia.

Epidermal nevus and ameloblastoma: a rare association.

Epidermal nevi are clinical manifestations of a malformation affecting the embryonic ectoderm. They appear as linear verrucous lesions and are more often located in the skin of the trunk or the extremities. Rarely, verrucous lesions affect the oral mucosa. Epidermal nevi can be a component of epidermal nevus syndrome (ENS), which is characterized by malformations involving several organs, such as the central nervous system. ENS is rarely associated with other solid tumors. We present the case of a patient affected by ENS who developed maxillary and mandibular ameloblastomas. Epidermal nevi were located in the left middle and lower third of the face and in the left cervical region, whereas the ameloblastomas arose within the left maxillary mucosa and within the left mandibular ramus. Features of the syndrome are described and the relevant literature is reviewed.

Clinical manifestation and neurosurgical intervention of encephalocraniocutaneous lipomatosis--a case report and review of the literature.

INTRODUCTION: Currently, there are only a few reported cases of symptomatic or asymptomatic subpial (intramedullary) spinal lipoma, and therefore no guidelines are available to indicate surgery. These lesions are infrequently associated with spina bifida. CASE REPORT: Herein, we provide our experience in the neurosurgical intervention of compressive myeloradiculopathy for encephalocraniocutaneous lipomatosis (ECCL). The patient initially presented with bilateral upper hand paralysis, then regained muscle power after surgery and during 1 year of follow-up. We discuss the neurosurgical indications and intervention, imaging studies, other associated symptoms, and the pathogenesis of ECCL in an infant.