Klippel-Trenaunay syndrome or not? An exploration of atypical presentations.

Klippel-Trenaunay syndrome (KTS) is a rare, congenital disorder typically emerging in early infancy or childhood. The classic presentation of KTS is distinguished by a triad of clinical features: a port-wine stain, early-onset varicosities and limb overgrowth. However, a notable variant of KTS has been documented, characterised by limb shortening rather than lengthening, occasionally referred to as 'inverse KTS'. This report details two cases that display this unusual presentation-both patients had classical features of port-wine stain and varicose veins but both experienced shortening of the affected limb. Whether these cases represent a variant of KTS or a new clinical syndrome altogether is uncertain. They however offer valuable insights into the nuances and breadth of clinical manifestations associated with this syndrome.

Hypothalamic-pituitary dysfunction in Sturge-Weber syndrome: case report and review of the literature.

OBJECTIVES: Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder that is characterized by a segmental dermatomal facial port-wine stain birthmark and is frequently accompanied by ipsilateral brain and eye abnormalities. We present a case of a patient with SWS who exhibited hypogonadotropic hypogonadism, growth hormone (GH) deficiency, and central hypothyroidism at the age of 20 despite the absence of radiographic findings in the pituitary and hypothalamus. CASE PRESENTATION: A 20-year-old male with SWS with epilepsy and Klippel-Trenaunay syndrome presents with delayed pubertal development, short stature, and obesity. Upon further examination, he was found to have biochemical and clinical evidence of hypogonadism, hypothyroidism, and GH deficiency. A pituitary MRI displayed no abnormalities of the pituitary or hypothalamus. Treatment with testosterone cypionate and levothyroxine was initiated. Despite successful pubertal induction, IGF-1 levels have remained low and treatment with recombinant human growth hormone (rhGH) is now being considered for metabolic benefits. CONCLUSIONS: This case emphasizes the importance of endocrine evaluation and treatment of hormonal deficiencies in patients with SWS despite the absence of radiographic findings.

Parkes Weber syndrome: a rare cause of foot drop.

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.

Isolated diffuse choroidal hemangioma without systemic symptoms: a case report.

BACKGROUND: Sturge-Weber syndrome is a nonhereditary congenital neurocutaneous syndrome characterized by a distinctive facial capillary malformation,neurological abnormalities, and ocular abnormalities such as glaucoma and choroidal hemangioma.It can be divided into different subtypes according to different clinical manifestations. It is rare for a patient to present with isolated difuse choroidal hemangioma and ipsilateral abnormal conjunctival and episcleral vessels without other systemic symptoms. CASE PRESENTATION: We report a 30-year-old man with isolated diffuse choroidal hemangioma in his right eye without systemic symptoms, such as vascular malformations in the skin or leptomeningeal angiomatosis. The only additional ophthalmic finding was ipsilateral abnormal conjunctival and episcleral vessels without glaucoma. However, there was no evidence of leptomeningeal angiomatosis or port-wine stain on the right side of the face, or glaucoma, which are common clinical manifestations of the Sturge-Weber syndrome (SWS).The absence of these characteristic symptoms did not preclude the diagnosis, and the patient could be diagnosed with a particular subtype of SWS. CONCLUSIONS: This is a rare case of documented isolated difuse choroidal hemangioma with ipsilateral abnormal conjunctival and episcleral vessels without glaucoma which we think it is belonging to a particular subtype of SWS.In addition to the traditional clinical manifestations, more and more atypical clinical manifestations are also accompanied by SWS, which requires our clinicians to continuously discover and report, so as to help more clinicians understand this disease.

Sturge-Weber Syndrome: A Case Report.

Sturge-Weber syndrome is a rare congenital neurocutaneous syndrome with an incidence of 1 in 50000 characterised by facial capillary malformation and vascular anomalies in the brain and eye. We present the case of a five-year-old child diagnosed with Sturge-Weber syndrome. The patient exhibited high-grade fever, headaches, and generalized tonic-clonic seizures. The history revealed a port-wine stain on the face and a history of seizures from the age of four months. Diagnostic imaging confirmed the presence of leptomeningeal vascular malformation, calcification in the brain, and abnormal electroencephalogram patterns, establishing the diagnosis of Sturge-Weber syndrome. Treatment with antiepileptic drugs led to seizure control. This case underscores the importance of early diagnosis and tailored treatment strategies for patients with Sturge-Weber syndrome. Keywords: brain; case reports; port-wine stain; seizures; Sturge-Weber syndrome.

Ocular features in a patient presenting with a rare combination of multiple phakomatoses.

Phakomatoses are a group of congenital disorders characterised by hamartomatous lesions of the skin as well as the central and peripheral nervous systems. The presence of naevus flammeus or port-wine stain is a characteristic feature of many such disorders including Sturge-Weber syndrome (SWS), Klippel-Trenaunay syndrome (KTS) and Phakomatosis pigmentovascularis (PPV).We describe the ocular findings in a patient with coexisting PPV, SWS and KTS.

Sturge-weber Syndrome with Bilateral Fronto-parieto-temporal Lobe Atrophy and Bilateral Leptomeningeal Angiomatosis: A Rare Case.

Sturge-weber Syndrome (SWS) is a phacomatosis characterised by Port-Wine stains, leptomeningeal angiomatosis, and glaucoma. Leptomeningeal angiomatosis is seen in 10% to 20% of the cases with the facial nevus, usually on the ipsilateral side. Parietal and occipital regions are the most commonly involved areas; however, it can involve any area of the brain. Bilateral involvement is detected in 15% of the patients. Bilateral Port-Wine stains have been shown to be associated with an increased risk of developing epilepsy in an early age. Here, we present a case of a 3-month child with bilateral Port-Wine stains who presented with generalised fits. On the basis of Port-Wine stains, SWS was suspected, and MRI was done which showed cerebral atrophy in bilateral fronto-parieto-temporal regions and bilateral leptomeningeal angiomatosis, which are rare findings according to the literature. Key Words: Sturge-weber syndrome, Phacomatosis, Port-wine stain, Fits.

Port-wine Birthmarks: Update on Diagnosis, Risk Assessment for Sturge-Weber Syndrome, and Management.

Sturge-Weber syndrome (SWS) is a neurocutaneous disorder that classically presents with a triad of vascular anomalies affecting the skin, eyes, and brain. Previously, the trigeminal nerve distribution of a port-wine birthmark (PWB) of the face was used to identify risk of SWS. However, recent evidence has demonstrated that PWBs are vascular, not neurologic, in embryologic origin, and facial PWBs at highest risk for the brain involvement of SWS involve the forehead location. Furthermore, a PWB involving the upper or lower eyelid carries a risk of glaucoma, which requires lifelong monitoring. The gold standard of treatment for PWB is the pulsed dye laser, which has many advantages when started as early as possible in infancy. In this review, we discuss the locations of facial PWBs at risk for neurologic and ophthalmologic complications, the differential diagnosis of facial vascular birthmarks, recommendations for patient referral(s) when needed, and the advantages of early laser therapy when desired for the PWB. We also provide additional resources for pediatricians to support patients and their families.

Clinical characteristics of infants with port-wine stain and glaucoma secondary to Sturge-Weber Syndrome.

BACKGROUND: Sturge-Weber Syndrome (SWS) is a rare disease involving the eye, skin, and brain. Port-wine stain (PWS) and glaucoma are common clinical manifestations. This study analysed the clinical characteristics of infants with PWS and glaucoma secondary to SWS. METHODS: Children with PWS and glaucoma secondary to SWS were enrolled. Data were extracted from ophthalmic and systemic examination findings. Ocular examinations included intraocular pressure, anterior segment and fundus examination, and ocular A-scan and B-scan ultrasonography. RESULTS: Fifty-seven patients were included, with a mean age of 9.9 ± 11.9 months, and 34 (59.6%) patients were male. In all, 61 eyes were diagnosed with glaucoma. Forty-one patients (71.9%) had unilateral facial PWS and glaucoma occurred on the same side. Eight patients (14.0%) had Mongolian spots and ten patients (17.5%) had epilepsy. Corneal changes included corneal oedema (n = 36 eyes, 59.0%), corneal opacity (n = 15 eyes, 24.6%), and Haab lines (n = 13 eyes, 21.3%). Mean corneal diameter and thickness in the eyes with glaucoma was larger than those in the unaffected eyes (12.2 ± 0.7 mm vs 10.8 ± 0.6 mm, P < 0.001; 681.2 ± 106.4 µm vs 578.2 ± 58.2 µm, P < 0.001). The eyes with glaucoma had higher IOP and larger axial length and C/D ratio (19.3 ± 6.2 mmHg vs 11.6 ± 4.2 mmHg, P < 0.001; 21.23 ± 1.93 mm vs 19.68 ± 1.61 mm, P < 0.001; and 0.57 ± 0.18 vs 0.24 ± 0.15, P < 0.001). Thirty-three (57.9%) and 25 (43.9%) patients showed diffuse choroidal haemangioma (DCH) and conjunctival/episcleral haemangiomas, respectively. Ten patients (17.5%) showed iris anterior insertion or hyperpigmentation in the anterior chamber angles. Six of them had Mongolian spots at the same time. CONCLUSIONS: Monocular glaucoma, DCH, and conjunctival/episcleral haemangiomas are common in SWS patients with PWS and glaucoma. Glaucomatous eyes have larger corneal diameter and axial length and thicker cornea. Patients with Mongolian spots have higher incidence of iris anterior insertion or hyperpigmentation in anterior chamber angle.

Capillary malformation-arteriovenous malformation syndrome associated with basilar artery aneurysm.

A 23-day-old boy with prenatal diagnosis of basilar artery aneurysm presented with multiple congenital red patches consistent with capillary malformations. Genetic testing confirmed the presence of a heterozygous pathogenic variant of the RASA1 gene, confirming the diagnosis of capillary malformation-arteriovenous malformation (CM-AVM) syndrome. This case illustrates an atypical presentation of the RASA1 associated CM-AVM syndrome, with the intracranial vascular malformation diagnosis preceding the identification of the skin lesions. Arterial aneurysms have been associated with CM-AVM syndrome in rare instances but to our knowledge this is the first reported case of an aneurysm of the basilar artery.

Managing pregnancy in women with Sturge-Weber syndrome: case report and review of the literature.

Sturge-Weber syndrome (SWS) is a sporadic congenital neuro-cutaneous anomaly with capillary-venous malformation involving the brain, eye, and the ophthalmic division of the trigeminal nerve. In these cases, physiological changes in pregnancy, including hormonal and hemodynamic changes, may predispose to increased seizure frequency and even a life-threatening intracranial haemorrhage. There are only few case reports available about the management of women with pregnancy and SWS. We report two patients with SWS diagnosed in childhood and managed during pregnancy and reviewed the outcomes and complications during pregnancy in women with this disorder.

Successful management of an arteriovenous malformation with trametinib in a patient with capillary-malformation arteriovenous malformation syndrome and cardiac compromise.

Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is an autosomal dominant condition characterized by multifocal, noncontiguous pink patches on the skin that often have a surrounding pale halo. In some cases, an association with a fast flow, arteriovenous malformation (AVM) can be identified. Here, we describe a case report of a 16-year-old woman with CM-AVM syndrome and significant cardiac compromise successfully treated with trametinib, a mitogen-activated protein kinase (MEK) inhibitor.

Management challenges of a large upper extremity vascular malformation in a patient with capillary malformation-arteriovenous malformation syndrome.

We describe a 17-year-old boy with capillary malformation-arteriovenous malformation syndrome and a massive vascular malformation of the right chest wall, shoulder, and upper arm. Persistent growth of the malformation caused cutaneous ulcerations and recurrent massive bleeding episodes. We proceeded with a modified shoulder disarticulation preceded by ligation of the subclavian artery and innominate vein by median sternotomy. After a staged debulking resection of the residual chest wall arteriovenous malformation with rotational transverse rectus abdominis myocutaneous flap coverage, the patient was discharged home safely. This report demonstrates that a multidisciplinary approach is critical for management of life-threatening complications in capillary malformation-arteriovenous malformation patients.

Choroidal alterations of Sturge-Weber syndrome secondary glaucoma and non-glaucoma port-wine stain patients distinguished by enhanced depth imaging optical coherence tomography.

BACKGROUND: To evaluate the choroidal changes in Sturge-Weber syndrome (SWS) secondary glaucoma and non-glaucoma port-wine stain (PWS) patients by enhanced depth imaging optical coherence tomography (EDI-OCT). METHODS: SWS and PWS patients who were over 3 years old and treated or screened at our ophthalmology department were included in the study. Baseline demographics, EDI-OCT and fundus photography data were collected from all patients. RESULTS: Overall, 46 non-glaucoma PWS (NGPWS) patients and 35 SWS secondary glaucoma (SG) patients were included, with mean ages of 16.52 ± 13.63 and 13.94 ± 8.27 years, respectively (p > 0.05). Among these patients 2 exhibited bilateral PWS and unilateral glaucoma. Thus, the two eyes of each patient were divided into NGPWS and SG group, respectively. Twenty-one eyes had choroidal hemangiomas and 7 eyes had excessive thickening of the choroid without choroidal hemangiomas. Choroidal hemangiomas were only observed in ipsilateral eyes of SG patients. The choroidal thicknesses of the ipsilateral and fellow eyes of NGPWS patients were 358.10 ± 117.40 µm (45 eyes) and 288.20 ± 79.04 µm (41 eyes), respectively (p < 0.05). The choroidal thicknesses of the ipsilateral and fellow eyes of SG patients were 511.40 ± 242.10 µm (15 eyes) and 283.90 ± 92.27 µm (29 eyes), respectively (p < 0.05). Significant differences were found between the ipsilateral eyes of SWS and PWS patients (p < 0.05). Six of 13 eyes (46%) with choroidal hemangiomas exhibited post-operative posterior segment complications. CONCLUSIONS: NGPWS and SG patients had a thicker choroid in the ipsilateral eye. The trend was even more pronounced in SG patients. Choroidal hemangiomas were only found in the ipsilateral eyes of SG. In addition, choroidal hemangioma was a risk factor for post-operative posterior segment complications in SWS patients.

Facial Port-Wine Stain Phenotypes Associated with Glaucoma Risk in Neonates.

PURPOSE: To determine if the size and location of facial port-wine stains (PWS) can predict glaucoma risk in neonates. DESIGN: Retrospective cohort study. METHODS: Children with facial PWS who had undergone ophthalmologic examination within 4 weeks of their birth were included. Clinical information, including facial photographs, intraocular pressure, corneal diameter, optic disc cup-to-disc ratio, and Sturge-Weber syndrome (SWS) diagnoses were collected. Based on facial photographs, PWS distribution, eyelid involvement, and PWS scores according to degree of involvement in each embryonic facial vasculature distribution (segment [S]1, S2 and S3) were evaluated. RESULTS: Among the 34 patients, 7 (21%) had bilateral PWS lesions. Eighteen (53%) had diagnoses of glaucoma. The proportion of eyes showing PWS involving both S1 and S2 was the highest (n = 15, 37%), and the frequency of glaucoma diagnosis (n = 9, 60%) was also the greatest. In eyelid involvement analysis, among the 7 eyes with only lower-eyelid lesions, 5 (83%) had glaucoma. Among the 11 eyes with only upper-eyelid lesions, however, 2 (18%) had diagnoses of glaucoma. A logistic regression model showed that the significant factors associated with glaucoma risk were greater PWS scores in S2 (odds ratio [OR]: 3.604; 95% confidence interval: 1.078-12.050; P = .037) or lower-eyelid involvement (OR: 12.816; 95% CI: 1.698-96.744; P = .013). CONCLUSIONS: Among the newborns with facial PWS, 1) a greater extent of birthmarks involving the S2 area, and 2) lesions including the lower eyelid were associated with higher risk of glaucoma development within the neonatal period.

[Neonatal capillary malformation-arteriovenous malformation complicated with acute heart failure: a case report and literature review].

Objective: To study the clinical characteristics and current treatment of neonatal capillary malformation-arteriovenous malformation (CM-AVM). Methods: Clinical data of a newborn diagnosed with neonatal CM-AVM caused by RASA1 gene variation admitted to Shanghai Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine was retrospectively analyzed, and related literature was reviewed. Databases of CNKI, WanFang, and Pubmed were searched for the literature from January 1, 2009 to December 31, 2018, with the keywords of "capillary malformation-arteriovenous malformation" "neonatal" and "RASA1 gene" . The clinical features of neonatal CM-AVM were summarized. Results: A one-day-old male infant was admitted to hospital due to swelling of both lower extremities with erythema with elevated skin temperature, who later presented with acute heart failure on the third day of hospitalization. A giant spinal arteriovenous fistula was identified by abdominal contrast-enhanced computed tomography and digital subtraction angiography. After surgical ligation of two feeding arteries, both heart failure and lower limb swelling improved. Genetic testing detected a novel paternal heterozygous variation of RASA1 gene. Digital subtraction angiography showed that spinal AVM still exist at the age of 6 months, but the heart function was good. A total of 4 cases of neonatal CM-AVM had been reported in 3 papers. According to these 5 cases, the clinical manifestations of neonatal CM-AVM were summarized: multiple dermal capillary malformation (5 cases), limb swelling or head circumference enlargement (5 cases), arteriovenous malformation (5 cases), congestive heart failure (4 cases) and positive family history (5 cases). Conclusions: CM-AVM is a rare disease and could present early in neonatal period. Capillary malformation and congestive heart failure of unknown origin in infants may indicate the existence of CM-AVM, and timely imaging and genetic test will help early diagnosis and treatment, and improve prognosis.

Optical Coherence Tomography Angiography of Perilimbal Vasculature in Port-Wine Stain and Sturge-Weber Syndrome Patients.

Purpose: To evaluate episcleral vasculature in corneal limbus with optical coherence tomography angiography (OCTA) in normal controls, port-wine stain (PWS) patients, and Sturge-Weber syndrome (SWS) patients. Methods: Unilateral eyes from 18 normal controls (25.41 ± 4.00 years), 16 PWS patients (21.35 ± 11.05 years), and 8 SWS patients with ipsilateral late-onset glaucoma (22.13 ± 7.82 years). Each subject underwent slit-lamp examination, applanation tonometry, and OCTA. All OCTA scans were performed using an OCTA system operating at a wavelength of 1050-nm in four quadrants (superior, inferior, nasal, and temporal). The scans were delineated into conjunctival and episcleral layers using IMAGEnet6 for analysis. Results: Slit-lamp and OCTA images demonstrated dense dilated episcleral vessels in PWS and SWS patients, particularly in the SWS group. The mean limbal involvements of episcleral vascular anomalies under slit lamp were respectively 0.00 ± 0.00, 5.44 ± 2.92, and 8.88 ± 2.70 clock hours in the control, PWS, and SWS groups (F = 58.46, P < 0.01). Quantitative analysis of OCTA scans showed that the episcleral vessel density in controls, PWS, and SWS groups were 25.03% ± 1.47%, 28.28% ± 1.96%, and 33.59% ± 3.00%, respectively (F = 18.17, P < 0.01). We also observed higher episcleral vessel diameter index in the SWS and PWS groups in comparison with the controls, particularly in the SWS group (P < 0.01). The vessel measurements, including density and diameter, were significantly correlated with the increased IOP and cup-to-disc (C/D) in SWS patients (P < 0.01). Conclusions: To our knowledge, this is the first demonstration of OCTA in PWS and SWS patients and represents direct pathoanatomic evidence for episcleral alterations in SWS patients. The episcleral vessel measurements correlated with the increased IOP and C/D in SWS patients, indicating the episcleral vascular hypertrophy may be a risk factor for glaucoma in adult SWS patients.