'Facial naevus flammeus with choroidal haemangioma and without intracranial involvement'

Abstract

'Facial naevus flammeus with choroidal haemangioma and without intracranial involvement' SIR-We would like to report a male patient who was noted at birth to have left-sided facial naevus flammeus (port wine stain) involving the left side of the scalp, upper eyelid, and the left side of the nose. Follow-up in the next 6 years did not show any developmental problems, focal neurological deficit, nor seizures. His left eye was found to be hyperaemic over the bulbar conjunctiva. He also had anisometropic hyperoptic astigmatism of the left eye. Fundal examination confirmed the presence of left choroidal haemangioma, mainly in the upper half and posterior pole of the choroid. It was a well circumscribed lesion, slightly raised, bright red in colour, and affecting the left foveal region. The child had no evidence of raised intraocular pressure. The latest follow-up assessment at 6 years recorded visual acuity of 6/5(right eye) and 6/9 (left eye) with glasses correction. He is currently undergoing treatment for left amblyopia.At 18 months of age the child had brain CT which was normal. To clarify the diagnosis further, and to be in a position to give the parents an accurate diagnosis and prognosis, MRI was performed at the age of 6 years. Brain imaging enhanced by gadalinium -DTPA was performed. This showed diffuse enhancement of the choroid with choroidal angioma of the left eye. There was no intracranial abnormality.Naevus flammeus can be an isolated birthmark or it can be associated with ophthalmological and/or neurological abnormalities. When neurological abnormalities are present the diagnosis of Sturge-Weber syndrome (SWS) is highly likely. Stevenson and colleagues reported ocular findings in 50 patients with naevus flammeus. 1,2 Only one patient was found to have clinical evidence of choroidal haemangioma and this patient did not have intracranial abnormalities. Sullivan and coworkers reported the ocular manifestations of SWS in 51 patients. Of these, 28 had choroidal haemangiomas. 3 Choroidal haemangiomas in SWS patients are usually diffuse, primarily related to the posterior pole, and usually seen as red, flat to moderately elevated masses. This is in contrast to choroidal haemangiomas not associated with SWS which are usually discreet raised structures arising from the choroid. 4 In our patient, the naevus flammeus involves the ophthalmic and maxillary divisions of the trigeminal nerve and the choroidal haemangioma has the characteristics of those seen in SWS. However, the child does not have any neurological deficit.We feel it is appropriate in these cases to clarify the possibility of intracranial involvement with neuroimaging to be able to give parents an accurate prognosis. 'Salivary cortisol in children with cognitive impairment' SIR-Cortisol plays an essential role in stress-regulation in humans. 1 It is produced in a well-defined circadian rhythm which is under the influence of an individual's sleep-wake activity. Under basal conditions, cortisol levels are highest in the early morning and subsequent...

<b> SÍNDROME DE STURGE-WEBER </b>

“…A exsudação contínua do tumor pode, cronicamente, levar a mudanças secundárias, tais como degeneração do epitélio pigmentário da retina, metaplasia fibrosa, degeneração cística e descolamento da retina, o que conduz a defeitos no campo e acuidade visual. O hemangioma coroidal sugere fortemente a presença de alterações na leptomeninge 15 . Outras manifestações oculares podem incluir dilatação e tortuosidade dos vasos conjuntivais e episclerais, heterocromia da íris, buftalmia, coloboma de disco óptico e catarata.…”