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.

Consensus Statement for the Management and Treatment of Port-Wine Birthmarks in Sturge-Weber Syndrome.

Importance: Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome involving the skin, brain, and eyes. Consensus recommendations for management are lacking. Objective: To consolidate the current literature with expert opinion to make recommendations that will guide treatment and referral for patients with port-wine birthmarks (PWBs). Evidence Review: In this consensus statement, 12 nationally peer-recognized experts in dermatology with experience treating patients with SWS were assembled. Key topics and questions were formulated for each group and included risk stratification, optimum treatment strategies, and recommendations regarding light-based therapies. A systematic PubMed search was performed of English-language articles published between December 1, 2008, and December 1, 2018, as well as other pertinent studies identified by the expert panel. Clinical practice guidelines were recommended. Findings: Treatment of PWBs is indicated to minimize the psychosocial impact and diminish nodularity and potentially tissue hypertrophy. Better outcomes may be attained if treatments are started at an earlier age. In the US, pulsed dye laser is the standard for all PWBs regardless of the lesion size, location, or color. When performed by experienced physicians, laser treatment can be safe for patients of all ages. The choice of using general anesthesia in young patients is a complex decision that must be considered on a case-by-case basis. Conclusions and Relevance: These recommendations are intended to help guide clinical practice and decision-making for patients with SWS and those with isolated PWBs and may improve patient outcomes.

Phakomatosis Pigmentovascularis Associated With Sturge-Weber Syndrome, Ota Nevus, and Congenital Glaucoma.

Phakomatosis pigmentovascularis (PPV) is a rare congenital malformation syndrome that is characterized by a combination of capillary abnormalities and dermal melanocytosis.We describe 3 cases of PPV combined with bilateral Sturge-Weber syndrome (SWS), Ota nevus, and congenital glaucoma.Case 1 was a 2-year-old boy. Facial port-wine stains distributed along the 3 branches of his trigeminal nerves, which suggested the existence of SWS. Gray-blue patches were spread over the frontal and temporal areas of bilateral face, waist, buttocks, and thigh. Bilateral triangular alopecia was found on the temporal scalp. The diagnosis of Ota nevus was made by the bilateral scleral malanocystosis. Increased intraocular pressure, enlarged cornea, and pathologic optic disc cupping supported the diagnoses of infantile bilateral glaucoma. Case 2 was a 4-year-old boy. Port-wine stains were found on the face along the 3 branches of the trigeminal nerve and distributed along the trunk, arms, and legs. Mongolian spots spread over his frontal and temporal areas of the bilateral face, waist, buttocks, thigh, abdomen, and back. Infantile glaucoma was found in both eyes. Ota nevus were found in the both eyes. Optic coherent tomography (OCT) scans revealed increased thickness of choroid. Case 3 was a 5-year-old boy. Besides Ota nevus and infantile glaucoma in both eyes, color Doppler ultrasonography showed choroidal hemagioma. OCT scan showed increased choroidal thickness. The bilateral triangular alopecia on the child's temporal scalp was similar to that of Case 1. Cases 1 and 2 presented with port-wine stain patches that were consistent with the characteristic manifestation of PPV type IIb. However, the CMTC of Case 3 met the diagnostic criteria for PPV type Vb.Case 1 was treated with trabeculotomies in both eyes. For Cases 2 and 3, surgical interventions were not considered due to the high risks of antiglaucomatous operation complications. We prescribed them antiglaucoma indications.The simultaneously coexistence of PPV with SWS, Ota nevus, and congenital glaucoma is rare. In the clinic, additional detailed examinations and tests of PPV patients to exclude other ocular abnormalities or extraocular involvements are necessary.

Sturge-Weber syndrome with spontaneous intracerebral hemorrhage in childhood.

A girl aged 2 years 10 months suddenly went into a deep coma and demonstrated left hemiplegia. At birth, she had exhibited a left-sided facial port-wine stain typical of Sturge-Weber syndrome (SWS) and involving the V1 and V2 distributions of the trigeminal nerve. Computed tomography showed a right thalamic hemorrhage with acute hydrocephalus. Magnetic resonance imaging with Gd enhancement 8 months before the hemorrhage had shown a patent superior sagittal sinus (SSS) and deep venous system. Magnetic resonance imaging and MR angiography studies 2 months before the hemorrhage had revealed obstruction of the SSS and right internal cerebral vein (ICV). Given that a digital subtraction angiography study obtained after the hemorrhage did not show the SSS or right ICV, the authors assumed that impaired drainage was present in the deep venous system at that stage. The authors speculated that the patient's venous drainage pattern underwent compensatory changes because of the occluded SSS and deep venous collectors, shifting outflow through other cortical venous channels to nonoccluded dural sinuses. Sudden congestion (nearly total to total obstruction) of the ICV may have caused the thalamic hemorrhage in this case, which is the first reported instance of pediatric SWS with intracerebral hemorrhage and no other vascular lesion. Findings suggested that the appearance of major venous sinus occlusion in a child with SWS could be a warning sign of hemorrhage.

Encephalofacial angiomatosis (Sturge-Weber syndrome): report of three cases.

The purpose is to show and discuss the findings in three cases of Sturge-Weber syndrome. One adult and two children were examined in the last three years. The girl was scanned after diode laser treatment for her right eye glaucoma. Ultrasonographic examinations were performed with 20- and 25-MHz probes (nominal frequencies) for posterior pole and 35-MHz probe (closed system, HiScan Optikon 2000, Rome, Italy) for anterior segment. All cases were characterized by choroid thickening due to capillary hemangioma. The thickening was not regular and the use of 25-MHz probe proved superior in visualizing the two layers (choroid vs. sclera), showing a striking reflectivity difference between them. All cases also showed enlarged vortex veins and some anomalous vessels adjacent to the external surface of the sclera, i.e. posterior episcleral dilated vessels. In one case only, very anomalous tortuous vessels were found in the orbit. Disk cupping and/ or pseudo cupping was always present in all cases; in the oldest patient only, who had a thinner choroid, it was possible to display a concave bottom of the cup instead of the straight, small, highly reflective segment representing the cribrosa. Serous retinal and choroid detachments were present as temporary complications after glaucoma treatment. In conclusion, choroid, facial and encephalon involvement in Sturge-Weber syndrome is widely described in ocular oncology books, whereas by far less attention is paid to orbital involvement. Anterior dilated episcleral vessels are visible and till now the posterior vessel involvement has only been demonstrated in some pathology specimens.

Sturge-Weber syndrome: decrease in intraocular pressure after transpupillary thermotherapy for diffuse choroidal haemangioma.

PURPOSE: To report intraocular pressure (IOP) reduction after selective and partial destruction of diffuse choroidal haemangioma (DCH) by transpupillary thermotherapy (TTT) using an 810 nm infrared diode laser in two patients with Sturge-Weber syndrome (SWS) having late-onset juvenile glaucoma (LOJG). METHODS: An interventional small case series. Laser spots (diameter, 1 mm) were applied to the tumour surface located outside the posterior pole. Energy level (600-1700 mW) and exposure time (1-4 seconds) were increased stepwise until the tumour exhibited a greyish discoloration. The treatment was split into 2-4 sessions. RESULTS: Before TTT, both patients had uncontrolled LOJG with an IOP of 23 mmHg (Case 1) and 45 mmHg (Case 2) in spite of topical medications. In both cases, TTT led to normalization of IOP to 15 mmHg and 24 mmHg, respectively, and stopped the progression of LOJG during a follow-up period of 6 years (Case 1) and 1 year (Case 2). Visual loss or other complications were not observed. CONCLUSIONS: Our study highlights the close link that exists between LOJG and DCH in SWS. A single treatment modality such as TTT may both reduce IOP in LOJG and help to prevent exudative retinal detachment in DCH. We believe that TTT is a good therapeutic option for SWS patients who have both DCH and LOJG.

The role of the thalamus in neuro-cognitive dysfunction in early unilateral hemispheric injury: a multimodality imaging study of children with Sturge-Weber syndrome.

BACKGROUND: Sturge-Weber syndrome (SWS) with unilateral hemispheric involvement is a clinical model of early onset, chronic, often progressive hemispheric injury, resulting in variable neuro-cognitive impairment. AIMS: To evaluate if abnormal diffusion and metabolism of the thalamus, a central relay station with extensive cortical connections, may serve as a simple imaging marker of neuro-cognitive dysfunction in SWS. METHODS: We obtained both diffusion tensor imaging and FDG PET in 20 children (11 girls; age range: 3-12.4 years) with unilateral SWS. Diffusion parameters as well as FDG uptake were measured in thalami, compared to normal control values, and correlated with the extent of cortical hypometabolism, deep venous abnormalities and cognitive (IQ) as well as fine motor functions. RESULTS: Children with SWS had significantly higher thalamic glucose metabolic asymmetry than controls (p=0.001). Thalamic metabolic asymmetries correlated positively with the asymmetry of thalamic diffusivity (p=0.001) and also with the extent of cortical hypometabolism (p<0.001). Severe thalamic asymmetries of glucose metabolism and diffusion were strong predictors of low IQ (metabolism: p=0.002; diffusivity: p=0.01), even after controlling for age and extent of cortical glucose hypometabolism in children with left hemispheric involvement. Ipsilateral thalamic glucose hypometabolism was also associated with impairment of fine motor functions (p=0.002). CONCLUSIONS: Both diffusion and glucose metabolic abnormalities of the thalamus are closely related to cognitive functions, independent of age and cortical metabolic abnormalities, in children with unilateral SWS. Thalamic metabolic asymmetry is a robust but simple imaging marker of neuro-cognitive outcome in children with early unilateral hemispheric injury caused by Sturge-Weber syndrome.

Magnetic resonance spectroscopic imaging detects abnormalities in normal-appearing frontal lobe of patients with Sturge-Weber syndrome.

BACKGROUND: In Sturge-Weber syndrome (SWS), structural MRI abnormalities are most common in the posterior brain regions. Frontal lobe involvement increases the risk of motor impairment. The goal of this study was to determine whether Magnetic Resonance Spectroscopic Imaging (MRSI) can improve detection of frontal lobe involvement in children with SWS. METHODS: Sixteen children (age: .9-10.4 years) with unilateral SWS underwent MRI with MRSI prospectively. N-acetyl-aspartate (NAA) and choline asymmetries in the posterior and frontal regions were measured. RESULTS: Eight children presented normal-appearing frontal lobes on conventional MRI, but 7 of them showed abnormal NAA and/or choline content in the frontal lobe of the affected hemisphere. Lower frontal lobe gray matter NAA was associated with earlier onset of seizures (r= .76; P= .04) and impaired motor function (r=-.89, P < .001). Frontal NAA asymmetry was an independent predictor of motor function in a regression analysis (P= .01) CONCLUSION: MRSI is more sensitive than conventional structural MRI for detection of frontal lobe involvement in SWS. Decreased frontal lobe NAA is an excellent predictor of motor functions. Thus, MRSI can provide complementary information for the assessment of normal-appearing brain regions, and may assist prognosis evaluation in children with SWS.

Ciliochoroidal effusion induced by topical latanoprost in a patient with sturge-weber syndrome.

BACKGROUND: To report drug-induced ciliochoroidal effusion in a patient with Sturge-Weber syndrome. CASE: A 17-year-old man presented with unilateral glaucoma associated with Sturge-Weber syndrome. OBSERVATIONS: His corrected visual acuity was RE 20/20 and LE 40/60. Intraocular pressure readings by Goldmann applanation tonometry were RE 32 mm Hg and LE 12 mm Hg. Fundus examination showed marked glaucomatous disc cupping in his right eye and normal finding in his left. The patient had a port-wine stain on his right upper eyelid ipsilateral to the glaucomatous eye. Antiglaucomatous medications were begun, including topical latanoprost, with a diagnosis of juvenile onset glaucoma associated with Sturge-Weber syndrome. Ultrasound biomicroscopy showed a 360 degrees circumference ciliochoroidal effusion. Forty days after starting medication, latanoprost treatment was discontinued. Ten days later, ultrasound biomicroscopy showed a total disappearance of the ciliochoroidal effusion. CONCLUSION: Interaction of the enhanced uveoscleral outflow with latanoprost in conjunction with elevated episcleral venous pressure may have caused the congestion of the aqueous humor in the supraciliary-choroidal space, resulting in the ciliochoroidal effusion.

Hybrid Two-Dimensional Proton Spectroscopic Imaging of Pediatric Brain: Clinical Application

PURPOSE: To introduce and demonstrate the advantages of the new hybrid two-dimensional (2D) proton spectroscopic imaging (Sl) over the single voxel spectroscopy (SVS) and conventional 2D Sl in the clinical application of spectroscopy for pediatric cerebral disease. MATERIALS AND METHODS: Eighty-one hybrid 2D proton spectroscopic imaging was performed in 79 children (36 normal infants and children, 10 with hypoxic-ischemic injury, 20 with toxic metabolic encephalopathy, seven with brain tumor, three with meningoencephalitis, one with neurofibromatosis, one with Sturge-Weber syndrome and one with lissencephaly) ranging in age from the third day of life to 15 years. In adult volunteers (n = 5), all three techniques including hybrid 2D proton Sl, SVS using PRESS sequence, and conventional 2D proton Sl were performed. Both hybrid 2D proton Sl and SVS using PRESS sequence were performed in clinical cases(n= 12). All measurements were peformed with a 1.5-T scanner using standard head quadrature coil. The 16 x 16 phase encoding steps were set on variable field of view (FOV) depending on the size of the brain. The hybrid volume of interest inside FOV was set as 75 x 75 x 15 mm3 or smaller to get rid of unwanted fat signal. Point-resolved spectroscopy (TR/TE = 1,500 msec/135 or 270 msec) was employed with standard chemical shift selective saturation (CHESS) pulses for water suppression. The acquisition time and spectral quality of hybrid 2D proton Sl were compared with those of SVS and conventional 2D proton Sl. RESULTS: The hybrid 2D proton Sl was successfully conducted upon all patients. The 2D spectral data acquisition time was less than 6 minutes, while the data acquisition time of SVS was 4.3 minutes. This was short enough for pediatric application. The spectra acquired with hybrid 2D proton Sl showed nearly the same sensitivity and spectral resolution with SVS. The spectral quality of hybrid 2D proton Sl was, on the other hand, far better than that of conventional 2D proton Sl. The other advantage of hybrid 2D proton Sl was that the extent of metabolic abnormalities could be evaluated through the characteristics of the relative levels of the three metabolites, i.e., N-acetylaspartate, choline, and creatine. CONCLUSION: The hybrid 2D proton Sl can be successfully employed for the evaluation of the metabolic abnormalities in the various pathologic conditions of pediatric brain without penalty in acquisition time and spectral quality when compared to SVS. The extent of metabolic abnormalities, which cannot be obtained with SVS technique, also can be evaluated with hybrid 2D proton Sl.

Piel y ojo / Skin and eye

Piel y ojo comparten un origen común a partir del neuroectodermo (en el ojo, estructurales pricilpalmente esclerocorneanas) (1). La similitud de los epitelios de superficie y de sitios pigmentarios, la contiguidad palpebroconjuntival, la exposición idéntica a microorganismos o alergenos y factores del medio ambiente, los mecanismos de defensa similares, y mecanismos autoinmunes (escleroconjuntiva y úvea), son factores que pueden explicar la patologías comunes, llevando a una sintomatología a la vez dermatológica y oftalmológica; así, enfermedades tales como neurofibromatosis, dermatosis bulosa, vasculitis, Behcet, dermatis atópica y rosácea, son ejemplos de patologías compartidas. El objetivo de esta revisión es definir y explicar cuándo el dermatólogo debe solicitar la evaluación de un oftalmologo

Calcificaciones cerebrales en la enfermedad celíaca. Diagnóstico diferencial con el síndrome de Sturge-Weber atípico / Intracranial calcifications in celiac disease: inclusion of atypical Sturge-Weber syndrome in the differential diagnosis

En la última década se ha descrito la asociación entre enfermedad celíaca, epilepsia y calcificaciones cerebrales. La morfología y localización de estas calcificaciones son similares a las observadas en el síndrome de Sturge-Weber, por lo que muchos pacientes epilépticos con enfermedad celíaca silente han sido diagnosticados de síndrome de Sturge-Weber atípico. Presentamos un caso de enfermedad celíaca en un varón de 35 años de edad que mostró calcificaciones cerebrales, haciendo hincapié en los signos radiológicos que ayudan al diagnóstico diferencial con el síndrome de Sturge-Weber atípico. La instauración temprana del tratamiento adecuado (dieta sin gluten), mejora en muchos casos el cuadro clínico epiléptico, lo que da mayor relevancia al diagnóstico (AU)

Leukocyte adhesion molecules and x-ray energy dispersive spectroscopy in Sturge-Weber disease.

We examined the light microscopic and ultrastructural features associated with Sturge-Weber disease, including x-ray energy dispersive spectroscopy to evaluate the chemical composition of the mineralized deposits and immunofluorescence microscopy with leukocyte adhesion molecules to examine the blood vessel proliferation further. Two patients (a 17-year-old girl and a 9-month-old boy) with Sturge-Weber disease comprise this series. Mineralized deposits stained strongly positive with von Kossa and negative with Prussian blue. Transmission electron microscopy of tissue removed during a functional hemispherectomy procedure in both cases indicated that most concretions were adjacent to or in the basal lamina of parenchymal vessels; no deposits were observed in leptomeningeal vessels. Energy dispersive spectroscopy of the deposits showed emission peaks corresponding predominantly to calcium, with lesser amounts of phosphorus. Fluorescent monoclonal antibodies to leukocyte adhesion molecules (endothelial cell, vascular cell, and intercellular: ELAM-1, VCAM-1, and ICAM-1) demonstrated strong positive staining of the meningeal vessels with all three antibodies. Cortical vessels were positive only for ICAM-1. Findings based on routine staining and energy dispersive spectroscopy indicate that the mineralized deposits detected in Sturge-Weber disease are composed primarily of calcium phosphate and are located primarily in and adjacent to the vascular basal lamina. There is an aberrant expression of ELAM-1 and VCAM-1 in the meningeal vascular proliferation similar to what is observed with other vascular malformations and tumors. Parenchymal vessel changes may be secondary to the meningeal vascular proliferation.

Brain-stem somatosensory dysfunction in a case of long-standing left hemispherectomy with removal of the left thalamus: a nasopharyngeal and scalp SEP study.

We have studied median nerve somatosensory evoked potentials (SEPs) in a patient who had undergone early surgical removal of the left cerebral hemisphere and left thalamus. Stimulation of the right side evoked normal latency P9, P11 and P13 potentials at scalp as well as at nasopharyngeal (NP) leads, while P14 and N18 potentials were absent. These SEP abnormalities, that have been described previously in cervico-medullary lesions and in comatose patients with upper brain-stem involvement, suggest that in our patient the removal of the left thalamus has caused retrograde degeneration of the cuneate-thalamic projections. Moreover, this study confirms that P13 and P14 potentials have different generators.

Anterior chamber angle vascularization in Sturge-Weber syndrome. Report of a case.

The case of a 20-year-old woman with a left-sided facial hemangioma and a homolateral glaucoma is reported, complete with the histology of a trabeculectomy specimen. Her left eye had an episcleral hemangioma and goniodysgenetic features in the anterior chamber angle, while the intraocular pressure was measured to be 45 mmHg. The left optic disc showed a large cupping and the left visual field was constricted. The right eye had no glaucomatous changes. Histological examination of the trabeculectomy specimen by both light and electron microscopy showed multiple congenital anomalies. There was a cluster of blood vessels in the trabecular meshwork. Abnormal accumulations of fine granular extracellular matrixes were observed in both the juxtacanalicular connective tissue and around the vascular structures. The lumen of Schlemm's canal was subdivided into three or four parts with few giant vacuole structures. The endothelial cells lining the inner wall of Schlemm's canal contained a well-formed basal lamina with many villi projecting into the lumen. These findings suggest that the multiple anomalies observed in the trabecular tissue may contribute to the manifestation of glaucoma in Sturge-Weber syndrome.