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.