A rare case of pregnancy with Sturge-Weber syndrome (original) (raw)
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Sturge-Weber Syndrome in A Neonate: An Unique Presentation
The Sturge-Weber Syndrome, also known as encephalotrigeminal angiomatosis, is a rare vascular neurocutaneous syndrome. It is characterised by port wine stain, seizure, and intracranial calcification. The facial nevus follows the trigeminal nerve in the face .We report a case of Sturge-Weber Syndrome presented in early neonatal period presenting with microcephaly, cranial synostosis, seizure and bilateral port wine stain.
Sturge Weber Syndrome (SWS): A case report in an infant
Journal of Rawalpindi Medical College, 2021
Introduction: Sturge Weber Syndrome (SWS), known as encephalotrigeminal angiomatosis, is a rare neurocutaneous disorder and is having a prevalence of 1/20-50,000, live births. The syndrome consists of leptomeningeal angiomas and the angiomas of the face, characteristically in the ophthalmic and maxillary divisions of the trigeminal nerve. The neurological presentations include fits, deficits in cognition, glaucoma, and visual field abnormalities. The overgrowth of the soft tissues and extracranial angiomas can also occur in SWS. Case presentation: We are presenting a rare case of Sturge Weber Syndrome in an infant who presented at an early stage of this disorder. The index case presented to us with a large port-wine stain and right-sided focal fits. The CT scan brain showed subtle gyriform tram-track calcification of the left cerebral cortex and the left-sided cerebral atrophy. Ophthalmological examination showed glaucoma of the left eye. The clinical and radiological criteria were ...
Sturge-weber syndrome in a three month old infant: a case report
International Research Journal of Basic and Clinical Studies
Sturge-Weber syndrome is a rare neurocutaneous syndrome that includes a facial port-wine stain and associated leptomeningeal angiomatosis. The defect in Sturge-Weber syndrome occurs early during lamination, when the connection between cortical veins and superior sagittal sinus is impaired. The result of which are poor cerebral metabolism, dysfunctional leptomeningeal vascular malformation, progressive atrophy and calcification. We report a case of a three months old infant who was diagnosed with clinical Sturge-Weber syndrome based on focal tonic clonic convulsions associated with weakness of the right side of her body. Physical examination revealed port wine nevi, localized on the left half of her face along the distribution of trigeminal nerve with right sided hemiparesis even though tram-line sign was not visible on her skull radiograph. Computerized tomography and MRI of the brain were desired but facilities for these were lacking at our health center. The patient was placed on Phenobarbital and diazepam for break through seizures. She improved remarkably and was discharged on physiotherapy; follow up visits in addition to seeing the ophthalmologist. Keywords: Sturge-Weber syndrome, Infant, Federal Medical Centre Yola, Adamawa state, Nigeria.
A Case Report of Sturge Weber Syndrome
University Journal of Medicine and Medical Specialities, 2018
The Sturge-Weber Syndrome, also known as encephalotrigeminal angiomatosis, is a rare vascular neurocutaneous alteration. It is characterized by facial nevus, seizures, hemiparesis, intracranial calcification and mental retardation. Here we report a case of Sturge-Weber syndrome who presented with a cutaneous vascular nevus on the face during childhood as well as epileptic crisis episodes.
A Case of Sturge-Weber Syndrome
Romanian Journal of Neurology, 2015
Encephalo-trigeminal angiomatosis of Sturge-Weber-Krabbe-Dimitri is a rare hereditary sporadic facomatosis, characterized by the presence of angiomatosis of brain lining vessels, face and eye capillaries. We present the case of a 25-year old girl with a birth mark, an facial angioma localized in the territory of the right ophthalmic nerve, also since she had 4 months, she presents generalized tonic-clonic seizures, for which she is currently under treatment with Levetiracetam 1000 mg/day, Lamotrigine 100 mg/day, Valproic Acid 1500 mg/day and Clonazepam 2 mg/day. She was hospitalized because of the higher incidence of the seizures, despite the treatment that she performs. Physical examination revealed her facial angioma, a facial dysmorphism, gingival hypertrophy with sharp teeth, and she has an upper limb asymmetrical development. The neurological exam reveals central facial paresis, a rough motor deficit on her left side, increased tendon reflexes on the left side, left limb ataxia...
2014
Abstract: Sturge-Weber Syndrome (SWS) is a neuro-cutaneous disorder characterized by angiomas of face and the central nervous system. These angiomas, are the hallmark of SWS. While other phacomatoses are hereditary in nature, SWS occurs sporadically and with a frequency of 1 in 50,000. Mutations in GNAQ gene result in altered structure and innervation of cerebral vasculature. A three year old female child presented with recurrent seizures from infancy. General physical examination revealed several hyper-pigmented macules over the trunk and both lower limbs. A purple coloured port wine stain was found on the right side of the face. Imaging (Contrast enhanced CT) of the brain showed extensive pial enhancement in the right parieto-occipital lobe. MRI brain depicted ipsilateral enlargement of choroid plexus, characteristic finding of Sturge weber syndrome. We report a rare case of type 1 SWS with ipsilateral choroid plexus enlargement and typical pial enhancement.
An Apparently Classical Case Report of Sturge-Weber Syndrome
Clinical EEG and neuroscience, 2014
Sturge-Weber syndrome is a rare, sporadic, congenital neurocutaneous syndrome, likely due to abnormal development of the cephalic microvasculature. Symptoms and signs depend on the extent and location of the venous dysplasia. We describe a case of a 33-year-old woman presenting with drug-resistant epilepsy, chronic headache, and recurring nonepileptic seizures. Computed tomography and magnetic resonance imaging scans showed severe frontoparietal right hemisphere atrophy, prevalent right frontoparietal leptomeningeal enhancement, circumscribed angioma of the left rolandic sulcus, and prominent deep venous system. We report an apparently classical Sturge-Weber syndrome and hypothesize a shared pathophysiologic mechanism for clinical symptoms. We speculate that all the main symptoms observed in our patient could be the expression of a functional imbalance between the atrophic right hemisphere and the hyperexcitable left cortex.
Management of patient with Sturge-Weber syndrome: a case report
Cases Journal, 2009
Introduction: Sturge-Weber syndrome sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. Case presentation: This is case report of a 18-year-old mentally disabled boy, with long-standing seizures, with a port-wine nevi on the left side of the face along the distribution of trigeminal nerve. Interictal encephalogram showed bilateral slow activity, pronounced in the left hemisphere, with epileptogenic activity in the left temporo-parietal region. Skull radiograph, computerized tomography and magnetic resonance imaging showed intracranial calcifications and atrophy of the left brain hemisphere. Conclusion: Professional counseling and support in addition to drug treatment can provide help to patients and their family to overcome their problems and improve the treatment outcome.