eISSN: 1896-9151
ISSN: 1734-1922
Archives of Medical Science
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4/2018
vol. 14
 
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abstract:
Letter to the Editor

Intracerebral hemorrhage in a patient with tuberous sclerosis complex

Lei Yang, Wei Qin, Wenli Hu

Arch Med Sci 2018; 14, 4: 945–949
Online publish date: 2016/06/14
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Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from mutations in the TSC1 or TSC2 gene. The disease is characterized by hamartomatous lesions in multiple organ systems. It is the second most common neurocutaneous syndrome after neurofibromatosis [1] with an estimated prevalence ranging from 1/6000 to 1/12 000 [2]. About two-thirds of cases are sporadic [3]. In China, there are no definite results of morbidity and mortality for TSC. Central nervous system manifestations are common sources of morbidity, including infantile spasms, seizures, intellectual disability, and giant-cell astrocytomas. There are rare case reports of cerebral hemorrhage and aneurysm in patients with TSC. But there has been no report of basal ganglia hemorrhage in patients with TSC.
A 38-year-old, right-handed man was admitted to the hospital because of right limb weakness and headache.
The patient had been well until 3 h earlier, when he had headache and weakness of the right side of the body and slurred speech when he awoke from sleep after dinner. There was no vertigo, dizziness, hemisensory change or palpitations. In the emergency department of our hospital, he received a cranial computed tomography (CT) scan which showed acute left basal ganglia hemorrhage with multiple subependymal calcifications. His stroke risk factor was 10 pack-years of smoking. This patient was mildly mentally retarded and had had no seizure. His blood pressure had been found to be higher than normal for six months, but he had not been taking any antihypertensive drugs.
Abdominal magnetic resonance imaging (MRI) performed 6 months previously in our outpatient department for a painless left abdominal mass showed bilaterally enlarged kidneys with diffuse renal disease suggestive of angiomyolipomas. Abnormal signs were also seen in the liver. He had no history of seizure or abnormal movements suspected to be convulsions. There was no family history of kidney diseases, tumor or stroke.
On general physical examination, his temperature was 36°C, and the blood pressure was 160/100 mm Hg. Skin examination revealed multiple angiofibromas on the face and neck (Figures 1, 2), and ungual fibromas and multiple hypopigmented lesions over the chest, abdomen, and extremities. No bruits were heard around the neck. Examination of the heart revealed no abnormalities. Neurologic examination revealed dysarthria, right lower facial weakness, tongue deviation to the...


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