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.

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.

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)

MR imaging of Sturge-Weber syndrome: role of gadopentetate dimeglumine and gradient-echo techniques.

Five patients with Sturge-Weber syndrome were evaluated by conventional noncontrast spin-echo MR imaging, a gradient-recalled echo (GRE) technique, and T1-weighted spin-echo imaging after administration of gadopentetate dimeglumine. In four of five cases the full extent of intracranial disease was appreciated only on the postcontrast images. In one patient precontrast and GRE images were entirely normal, while only the postcontrast study demonstrated extensive involvement of both brain and retina. Nevertheless, some abnormal vessels with higher flows were seen better on precontrast T2-weighted images than on postcontrast T1-weighted images. GRE techniques demonstrated calcifications to best advantage, in one case even better than on CT. Contrast enhancement with gadopentetate dimeglumine is necessary for the complete MR evaluation of patients with suspected Sturge-Weber syndrome. Traditional noncontrast T2-weighted and GRE images may provide additional complementary information.