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vol. 14
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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Hurst JS, Wilcoski S. Recognizing an index case of tuberous sclerosis. Am Fam Physician 2000; 61: 703-8, 710.
Baron Y, Barkovich AJ. MR imaging of tuberous sclerosis in neonates and young infants. AJNR Am J Neuroradiol 1999; 20: 907-16.
Narayanan V. Tuberous sclerosis complex: genetics to pathogenesis. Pediatr Neurol 2003; 29: 404-9.
Northrup H, Krueger DA; International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatr Neurol 2013; 49: 243-54.
Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998; 13: 624-8.
Hyman MH, Whittemore VH. National Institutes of Health consensus conference: tuberous sclerosis complex. Arch Neurol 2000; 57: 662-5.
Ksenia AO, Peter BC. The tuberous sclerosis complex. Ann N Y Acad Sci 2010; 1184: 87-105.
Hamamoto O, Honorato DC, Brito HL, et al. Intratumor hemorrhage in tuberous sclerosis. A case report. Arq Neuropsiquiatr 1994; 52: 435-8.
Barbosa-Coutinho LM, Lima EL, Gadret RO, et al. Massive intratumor hemorrhage in tuberous sclerosis. Autopsy study of a case. Arq Neuropsiquiatr 1991; 49: 465-70.
Shyamsunder BS, Joel C, Joseph S, et al. Tuberous sclerosis with multiple intracranial aneurysms: atypical tuberous sclerosis diagnosed in adult due to third nerve palsy. Acta Neurol Belg 2010; 110: 89-92.
Momtaz HE. Tuberous sclerosis with hypertension and abdominal pain in a child. Iran J Kidney Dis 2010; 4: 253-5.
Wiederholt WC, Gomez MR, Kurland LT. Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982. Neurology 1985; 35: 600-3.
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