We report on a 25-year-old patient diagnosed as having Bourneville tuberous sclerosis with a giant angiomyolipoma 16 X 12 cm. in diameter, and two small angiomyolipomas in the left kidney, multiple asymptomatic angiomas in the right kidney and two 1 cm. diameter angiomas in the liver. The presenting
The tuberous sclerosis complex is a rare disease, with autosomal dominant transmission, with multisystemic involvement including ophthalmologic. Retinal hamartomas and retinal achromic patch are the most frequent ocular findings. Other ophthalmic signs and symptoms are relatively rare in this
A 6-year-old male child born of a non-consanguineous marriage admitted in the pediatrics emergency ward with the history of recurrent attacks of convulsion since 4 month of age. He was also suffering from frequent vomiting. Examination revealed that the child had characteristics features of
We report a case of jugular foramen schwannoma associated with tuberous sclerosis. A 28-year-old female with tuberous sclerosis presented to Hikone Municipal Hospital with subacute onset of somnolence, ataxic gait and frequent vomiting. Her tuberous sclerosis was diagnosed at the age of 9, when she
It is well known that intraventricular tumors are occasionally seen in patients with tuberous sclerosis. We have experienced two cases of tuberous sclerosis with intraventricular tumor. Case 1: an 8-year-old girl was admitted to our clinic because of headache and vomiting of one month's duration.
The authors report the case of a 14-year-old male with a subependymal giant cell astrocytoma (SEGA) that occurred in the absence of tuberous sclerosis complex (TSC). The patient presented with progressive headache and the sudden onset of nausea and vomiting. Neuroimaging revealed an enhancing left
We presented a case of tuberous sclerosis (TS) associated with subependymal giant cell astrocytoma (SEGC) and renal angiomyolipoma (RAML). A 19-year-old female, who had been diagnosed as TS since she was 3 months old, was admitted with complaints of headache, vomiting, and abdominal pain. At 10
BACKGROUND
Tuberous sclerosis complex (TSC) is an uncommon multiple systems disorder. The main characteristics of the disease in the central nervous system include cortical or subcortical tubers, subependymal nodules, and subependymal giant cell astrocytoma. However, progressive cystic lesions in
Introduction Orbital meningoencephalocele formation is primarily a result of congenital defects in the pediatric population and trauma of the anterior cranial fossa in adults. We present a unique case of nontraumatic nasal and orbital meningoencephaloceles presenting as bilateral proptosis with
OBJECTIVE
To evaluate the efficacy and safety of long-term ketogenic diet (KD) on the children with intractable epilepsy.
METHODS
This was a prospective, open-label study of intractable epilepsy patients treated with the classic KD with a lipid-to-nonlipid ratio 4:1 between October 2004 and July
OBJECTIVE
To study the clinicopathologic features of subependymal giant cell astrocytoma.
METHODS
The clinical and pathologic characteristics of 18 cases of subependymal giant cell astrocytoma were retrospectively analyzed.
RESULTS
Amongst the 18 cases studied, there was a male predominance
Renal angiomyolipoma is a distinctive benign neoplasm that occurs either sporadically or in patients with tuberous sclerosis complex. A 45-year-old woman was admitted with history offlank pain and vomiting. There were no signs suggestive of tuberous sclerosis either in the patient or her family. At
Intraventricular hamartomas are extremely uncommon lesions outside of a setting of tuberous sclerosis. The second case of its kind in medical literature is presented and its possible aetiopathogenesis, imaging characteristics, pathognomonic magnetic resonance spectroscopy (MRS) and histopathology
A 26 year-old woman with tuberous sclerosis who came to the Emergency Department with high fever, bilious vomit, right hemiabdomen pain and syncope during 2 weeks. Laboratory analyses show hemoglobin 6.7 g/dl, creatinine 1.5 mg/dl and leukocytes 30,000. Abdominal CT is performed because of suspicion
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