Özet:

Tuberosclerosis complex is one of the common neurocutanous diseases that affect many organs and systems. The cause of epilepsy and neuropsychiatric disorders leads to serious health and social problems for the patient and his family. In this study we aimed at presenting 27 tuberosclerosis complex patients we followed in our clinic. In this retrospective-planned study, 27 patients followed with a complex diagnosis of tuberosclerosis between 2000-2005 in the Children's Neurology Clinic were taken to study. Patients, clinical, laboratory and demographic data were recalled backward. 15 of the patients involved were men (55.6 percent) and 12 (44.4 percent) women. When the patients looked at the complaints of applying to the hospital before diagnosis, it was found that 22 (81,5%) of the patients were hospitalized with the cause of an outbreak, 4 (14,8) of the patients were hospitalized with the cause of hypopigmental eruption and one (3.7%) of the patients was hospitalized with the cause of stomach pain. In 13 patients (48.1 percent) who suffered the epilepsy, a generalized infarction, in 6 patients infantile spasm (22.2 percent), in 3 patients (11.1 percent) focal infarction was detected. The average age of the attack was 28 ± 7.2 months. Among the other findings of the disease, hypomelanotic macules on the skin were present in all patients. Nine patients (33.3%) had angiofibrom. In our study, we found that patients, in accordance with the literature, were diagnosed after applying to the hospital with the cause of frequent stroke. But we were present in our patient with an untypical approximation such as stomach pain. Although the imaging methods were more accessible, it was found that the diagnosis age was extended to 13 years. We want to remind you that the skin examination, especially in patients with an attack, is still an important method for the diagnosis of tuberosclerosis.

Özet:

The tuberous sclerosis complex is one of the most common neurocutaneous diseases affecting many organs and systems. It causes serious health and social problems for the patient and his family as a result of epilepsy and neuropsychiatric disorders. In this study, we aimed to present 27 patients with tuberous sclerosis complex who were followed in our clinic. This retrospective study, include 27 patients with the diagnosis of tuberous sclerosis complex who were followed up in the Pediatric Neurology Clinic between 2000 and 2005 years. Clinical, laboratory and demographic data of the patients were reviewed retrospectively. Fifteen patients (55.6%) were male and 12 patients (44.4%) were female. When the patients were admitted to hospital before diagnosis, 22 (81.5%) patients had seizures, 4 (14.8%) had hypopigmented rash and one (3.7%) had abdominal pain. . Generalized seizures were seen in 13 patients (48.1%), infantile spasm in 6 patients (22.2%) and focal seizures in 3 patients (11.1%). The mean age at seizure was 28 ± 7.2 months. Among the other findings of the disease, hypomelanotic macules on the skin were present in all patients. Nine patients (33.3%) had angiofibroma. In our study, It was observed that the complaint at presentation was seizure. However, as in a patient in our study, it was observed that TSC patients may present to the hospital with abdominal pain. Although imaging methods were more accessible, the age at diagnosis may extended to 13 years. We would like to remind that skin examination, especially in patients with seizures, is still the most important method for the diagnosis of TSC

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