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Fetal and Pediatric Pathology 2024
Topics: Humans; Sturge-Weber Syndrome; Focal Cortical Dysplasia; Magnetic Resonance Imaging
PubMed: 37861408
DOI: 10.1080/15513815.2023.2270678 -
BMJ Case Reports Oct 2023
Topics: Humans; Sturge-Weber Syndrome; Stroke; Seizures
PubMed: 37857538
DOI: 10.1136/bcr-2022-248742 -
Neurology Nov 2023
Topics: Humans; Sturge-Weber Syndrome; Hemangioma; Status Epilepticus; GTP-Binding Protein alpha Subunits
PubMed: 37813580
DOI: 10.1212/WNL.0000000000207839 -
The Journal of Investigative Dermatology Apr 2024Mosaic mutations in genes GNAQ or GNA11 lead to a spectrum of diseases including Sturge-Weber syndrome and phakomatosis pigmentovascularis with dermal melanocytosis. The...
Mosaic mutations in genes GNAQ or GNA11 lead to a spectrum of diseases including Sturge-Weber syndrome and phakomatosis pigmentovascularis with dermal melanocytosis. The pathognomonic finding of localized "tramlining" on plain skull radiography, representing medium-sized neurovascular calcification and associated with postnatal neurological deterioration, led us to study calcium metabolism in a cohort of 42 children. In this study, we find that 74% of patients had at least one abnormal measurement of calcium metabolism, the commonest being moderately low serum ionized calcium (41%) or high parathyroid hormone (17%). Lower levels of ionized calcium even within the normal range were significantly associated with seizures, and with specific antiepileptics despite normal vitamin D levels. Successive measurements documented substantial intrapersonal fluctuation in indices over time, and DEXA scans were normal in patients with hypocalcemia. Neurohistology from epilepsy surgery in five patients revealed not only intravascular, but perivascular and intraparenchymal mineral deposition and intraparenchymal microvascular disease in addition to previously reported findings. Neuroradiology review clearly demonstrated progressive calcium deposition in individuals over time. These findings and those of the adjoining paper suggest that calcium deposition in the brain of patients with GNAQ/GNA11 mosaicism may not be a nonspecific sign of damage as was previously thought, but may instead reflect the central postnatal pathological process in this disease spectrum.
Topics: Child; Humans; GTP-Binding Protein alpha Subunits; GTP-Binding Protein alpha Subunits, Gq-G11; Calcium; Mosaicism; Neurocutaneous Syndromes; Calcinosis
PubMed: 37802294
DOI: 10.1016/j.jid.2023.09.008 -
The Journal of Investigative Dermatology Apr 2024Mosaic variants in genes GNAQ or GNA11 lead to a spectrum of vascular and pigmentary diseases including Sturge-Weber syndrome, in which progressive postnatal...
Mosaic variants in genes GNAQ or GNA11 lead to a spectrum of vascular and pigmentary diseases including Sturge-Weber syndrome, in which progressive postnatal neurological deterioration led us to seek biologically targeted therapeutics. Using two cellular models, we find that disease-causing GNAQ/11 variants hyperactivate constitutive and G-protein coupled receptor ligand-induced intracellular calcium signaling in endothelial cells. We go on to show that the aberrant ligand-activated intracellular calcium signal is fueled by extracellular calcium influx through calcium-release-activated channels. Treatment with targeted small interfering RNAs designed to silence the variant allele preferentially corrects both the constitutive and ligand-activated calcium signaling, whereas treatment with a calcium-release-activated channel inhibitor rescues the ligand-activated signal. This work identifies hyperactivated calcium signaling as the primary biological abnormality in GNAQ/11 mosaicism and paves the way for clinical trials with genetic or small molecule therapies.
Topics: GTP-Binding Protein alpha Subunits, Gq-G11; GTP-Binding Protein alpha Subunits; Mutation; Calcium; Endothelial Cells; Mosaicism; Calcium Signaling; Ligands
PubMed: 37802293
DOI: 10.1016/j.jid.2023.08.028 -
Neuroradiology Dec 2023Sturge-Weber syndrome (SWS) is a developmental disorder with venous hypertension and associated tissue responses including pial angiomatosis, cortical calcifications,...
PURPOSE
Sturge-Weber syndrome (SWS) is a developmental disorder with venous hypertension and associated tissue responses including pial angiomatosis, cortical calcifications, and cerebral atrophy. Arterial spin-labeled (ASL) perfusion is an advanced MR sequence which can assess perfusion, without the need for contrast. We systematically evaluated the potential benefits of using ASL in Sturge-Weber syndrome, to determine the extent of intracranial perfusion abnormality and stage of disease, relevant for prognostication and surgical planning.
METHODS
Two pediatric neuroradiologists retrospectively evaluated ASL perfusion imaging of 31 children with confirmed SWS and recorded the presence of hyper-perfusion, hypo-perfusion, or normal perfusion. The presence and distribution of ASL abnormality were compared against the presence and side of atrophy/calcification and pial angiomatosis on standard MR sequences.
RESULTS
Thirty-one children (52% female, median age 16.7 months) with SWS had ASL imaging. Seven (23%) had hyper-perfusion, 15 (48%) had hypo-perfusion, and 9 (29%) had no perfusion abnormalities. ASL perfusion abnormality matched the location of SWS findings on conventional imaging in 86% (19/22). ASL demonstrated statistically significant increased perfusion in the early stage of the disease and decreased perfusion when there was atrophy. The parietal lobe was involved in 86% of cases.
CONCLUSION
ASL perfusion imaging is an advanced technique which may contribute to earlier diagnosis and more accurate prognostication of Sturge-Weber syndrome, helping guide management and potential surgical planning.
Topics: Child; Humans; Female; Infant; Male; Sturge-Weber Syndrome; Retrospective Studies; Cross-Sectional Studies; Magnetic Resonance Imaging; Angiomatosis; Perfusion; Atrophy
PubMed: 37794141
DOI: 10.1007/s00234-023-03224-8 -
BMJ Case Reports Oct 2023This case report describes a patient in her late 60s, previously diagnosed with Klippel-Trenaunay syndrome who presented with difficulty walking. A year prior to her...
This case report describes a patient in her late 60s, previously diagnosed with Klippel-Trenaunay syndrome who presented with difficulty walking. A year prior to her presentation she had a fall which made her notice a painless foot drop on the right. Her right leg was profoundly hypertrophied compared with the left, and a port-wine stain was present on the lateral side, extending from the hip to the mid-shin. The patient's differential diagnosis based on clinical examination and investigations is discussed leading to a final diagnosis of sciatic neuropathy secondary to an arteriovenous malformation due to Parkes Weber syndrome.
Topics: Female; Humans; Arteriovenous Malformations; Klippel-Trenaunay-Weber Syndrome; Peroneal Neuropathies; Port-Wine Stain; Sturge-Weber Syndrome; Aged
PubMed: 37793841
DOI: 10.1136/bcr-2022-254455 -
Journal of Glaucoma Jan 2024Among children with unilateral glaucoma associated with Sturge-Weber syndrome (SWS), 7 of 47 demonstrated involvement in the fellow eye, and that group had had earlier...
PRCIS
Among children with unilateral glaucoma associated with Sturge-Weber syndrome (SWS), 7 of 47 demonstrated involvement in the fellow eye, and that group had had earlier first-eye surgery relative to the noninvolvement group.
PURPOSE
The aim of this study was to determine the incidence of and risk factors for fellow-eye involvement in children with unilateral SWS-associated glaucoma.
MATERIALS AND METHODS
Children diagnosed with a unilateral facial port-wine stain and ipsilateral glaucoma before the age of 5 and followed up for at least 5 years were enrolled. The incidence rates of fellow-eye glaucoma involvement were estimated per 100 person-years, and factors associated with a higher incidence of fellow-eye involvement were investigated.
RESULTS
A total of 47 children [24 (51.1%) girls] with unilateral SWS-associated glaucoma were included. All of them had facial port-wine stain involving ophthalmic division of the trigeminal nerve, and 18 (38.3%) had neurological comorbidities. The mean age at glaucoma diagnosis was 0.8±1.2 years [range, 0.08 (1 mo)-4.0 y]. Over a median follow-up of 8.4 years, glaucoma was diagnosed in the fellow eye of 7 of the children (14.9%; incidence rate of 1.8 per 100 person-years), 6 of whom were girls ( P =0.097) and 5 of whom were diagnosed before the age of 4 years ( P =0.508). The fellow-eye-involvement group showed significantly higher mean follow-up intraocular pressure in the fellow eye, older age at first-eye surgery (both P <0.005), and higher frequency of choroidal hemangioma both at first onset and in fellow eyes ( P =0.026 and 0.019, respectively).
CONCLUSIONS
In this cohort of SWS children diagnosed with unilateral glaucoma, the risk of fellow-eye involvement was higher in girls, within the first 4 years, and in cases with choroidal hemangioma. The fellow-eye-involved children underwent surgery on the first eye earlier than those without fellow-eye involvement.
Topics: Child; Female; Humans; Infant, Newborn; Child, Preschool; Male; Sturge-Weber Syndrome; Incidence; Port-Wine Stain; Intraocular Pressure; Glaucoma; Hemangioma; Risk Factors
PubMed: 37671496
DOI: 10.1097/IJG.0000000000002295 -
[Zhonghua Yan Ke Za Zhi] Chinese... Sep 2023To evaluate the medium-term efficacy and safety of Ex-PRESS shunt implantation in the treatment of secondary glaucoma associated with Sturge-Weber Syndrome (SWS). This...
To evaluate the medium-term efficacy and safety of Ex-PRESS shunt implantation in the treatment of secondary glaucoma associated with Sturge-Weber Syndrome (SWS). This was a retrospective case series study. Medical records of patients diagnosed with secondary glaucoma due to SWS who underwent Ex-PRESS shunt implantation at Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, between January 2013 and February 2020 were collected. Only the right eye were included in the analysis when both eyes were affected. Follow-up visits were scheduled at postoperative week 1, 3 months, 6 months, 1 year, 2 years, and 3 years. Clinical data including intraocular pressure (IOP), vertical cup-to-disc (C/D) ratio, corneal horizontal diameter, visual field, anterior chamber condition, anti-glaucoma medication usage, and additional surgeries were evaluated and analyzed before and after the procedure. Surgical success rates and procedure-related complications at each follow-up time point were assessed. Statistical analyses were performed using -test, Mann-Whitney test, and test. A total of 21 patients (21 eyes) were included in the study, comprising 10 females and 11 males. Among them, 15 eyes were on the right side, and 6 eyes were on the left side. The patients' ages ranged from 3 to 51 years, with a median age of 8.1 (6.3, 11.9) years. The follow-up period ranged from 3 to 53 months, with a median of 11 (6, 24) months. Preoperatively, the IOP in the 21 operated eyes was (32.9±9.1) mmHg (1 mmHg=0.133 kPa), significantly higher than the IOP in the 19 healthy eyes, which was (17.1±4.3) mmHg (=5.80, <0.001). The C/D ratio in the operated eyes was (0.75±0.13), also significantly higher than that in the healthy eyes, which was (0.32±0.10) (=11.22, <0.001). At the 1-year, 2-year, and 3-year follow-up, 8 eyes out of 16 operated eyes, 6 eyes out of 9 operated eyes, and 7 eyes out of 10 operated eyes achieved overall surgical success (complete success+conditional success), respectively. The number of eyes with complete success at the three follow-up time points was 3, 2, and 4, respectively. The IOP in the operated eyes was significantly reduced at all follow-up time points compared to preoperative values (all <0.05), while there was no statistically significant difference in C/D ratio before and after surgery (all >0.05). Two operated eyes experienced retinal detachment or choroidal leakage postoperatively, both of which recovered after conservative treatment. One eye developed postoperative degree Ⅰ shallow anterior chamber, and it resolved spontaneously on the third day after surgery. No serious surgical complications, such as bleb-related complications, malignant glaucoma, expulsive choroidal hemorrhage, or endophthalmitis, were observed postoperatively. Ex-PRESS shunt implantation for the treatment of secondary glaucoma in SWS demonstrated a relatively high level of safety. The medium-term IOP in the operated eyes significantly decreased compared to preoperative values. However, the majority of operated eyes did not achieve complete surgical success.
Topics: Female; Male; Humans; Child, Preschool; Child; Adolescent; Young Adult; Adult; Middle Aged; Retrospective Studies; Sturge-Weber Syndrome; China; Glaucoma; Anterior Chamber
PubMed: 37670654
DOI: 10.3760/cma.j.cn112142-20230323-00113 -
[Zhonghua Yan Ke Za Zhi] Chinese... Sep 2023To analyze the disease composition and primary surgical procedures in pediatric inpatients with secondary glaucoma. A retrospective case series study was conducted....
To analyze the disease composition and primary surgical procedures in pediatric inpatients with secondary glaucoma. A retrospective case series study was conducted. Clinical data of children aged≤16 years with secondary glaucoma who were admitted to the Zhongshan Ophthalmic Center, Sun Yat-sen University, between January 1, 2017, and December 31, 2021, were included. The patients were classified according to the Childhood Glaucoma Research Network (CGRN) classification system, and their diagnoses, underlying factors, gender, age of onset, affected eye(s), age and type of initial surgery, and ophthalmic examination data were analyzed. Statistical analysis was performed using Kruskal-Wallis rank sum test and test. A total of 540 patients (744 eyes) were included in this study, comprising 319 males (59.1%) and 221 females (40.9%). Unilateral disease was observed in 336 cases (62.2%), while bilateral involvement was present in 204 cases (37.8%). The age of onset was 4.0 (0.0, 9.0) years, and the median age of the first anti-glaucoma surgery was 5.0 (0.7, 10.0) years. Among them, there were 195 cases (36.1%) of secondary glaucoma associated with non-acquired ocular anomalies (SCG-O), with a median age of onset of 0.0 (0.0, 4.0) years, and 97 of these cases (49.7%) were male. secondary glaucoma associated with non-acquired systemic disease or syndrome (SCG-S) were observed in 68 cases (12.6%), with a median age of glaucoma onset of 0.1 (0.0, 4.0) years, and 47 of these cases (69.1%) were male. Secondary glaucoma associated with acquired conditions (SCG-A) accounted for 192 cases (35.6%), with a median age of onset of 9.0 (5.0, 13.0) years, and 125 of these cases (65.1%) were male. There were 85 cases (15.7%) of secondary glaucoma following cataract surgery (SCG-C), with a median age of onset of 3.0 (0.8, 7.0) years, and 50 of these cases (58.8%) were male. Male patients were predominant in SCG-S and SCG-A, with 47 cases (69.1%) and 125 cases (65.1%), respectively (=9.94, 17.52; =0.002,<0.001). Except for SCG-O, all other types of pediatric secondary glaucoma predominantly affected only one eye: SCG-S in 52 cases (76.5%), SCG-A in 128 cases (66.7%), and SCG-C in 54 cases (63.5%) (=19.06, 21.33, 6.22; all <0.05). The highest proportion of SCG-O was attributed to congenital ectropion uveae (46 cases, 23.6%). Sturge-Weber syndrome was the most common SCG-S (45 cases, 66.3%), while SCG-A mostly resulted from trauma (59 cases, 30.8%) and corticosteroid use (56 cases, 29.2%). Trabeculectomy (211 eyes, 30.8%) and glaucoma drainage device implantation (197 eyes, 28.7%) were the most frequently performed primary surgical procedures. SCG-O and SCG-A were found to be common types of pediatric secondary glaucoma. The age of onset and the choice of primary anti-glaucoma surgical procedures varied among different types of pediatric secondary glaucoma. However, overall, trabeculectomy and glaucoma drainage device implantation were the primary surgical procedures predominantly employed.
Topics: Child; Female; Humans; Male; Eye; Glaucoma; Retrospective Studies; Trabeculectomy; Child, Preschool; Glaucoma Drainage Implants; Adrenal Cortex Hormones
PubMed: 37670653
DOI: 10.3760/cma.j.cn112142-20230310-00095