Elif Yüksel Karatoprak

Pregabalin Treatment of a Patient With Complex Regional Pain Syndrome.

BACKGROUND Complex regional pain syndrome (CRPS) is a painful and disabling neurovascular condition. There is no consensus on the etiopathogenesis or the treatment. We present a patient with CRPS type 1 accompanied by a psychiatric disorder to discuss the relationship between CRPS and psychiatric disease and to emphasize the response of this case to treatment with pregabalin. PATIENT DESCRIPTION A 15-year-old girl presented with swelling, severe pain, edema, hyperesthesia, allodynia, and sweating changes in the left arm and was diagnosed as CRPS type 1. The presence of disturbed family relations was revealed on psychiatric examination, and a diagnosis of major depression was made. Her symptoms did not respond to selective serotonin reuptake inhibitors and noradrenergic and specific serotonergic antidepressives, gabapentin, or stellate ganglion blockage, but the patients pain resolved with pregabalin. Symptom-oriented measures and psychiatric support enabled ongoing treatment. A social services evaluation led to her being placed in the care of social services to protect her from the chaotic and traumatic family life. CONCLUSION Detailed psycological and psychiatric evaluation is recommended in individuals with CRPS because psychiatric support and improvement of associated psychosocial concerns in addition to pregabalin seems to facilitate treatments in some patients.

The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study

The aim of this multicenter study was to screen for late-onset Pompe disease in high-risk children with limb-girdle muscle weakness and nonspecific hyperCKemia using the dried blood spot (DBS) test. Seventy-two children from four pediatric neurology departments in Turkey were enrolled in the study: 37 with limb-girdle muscle weakness and 35 with nonspecific hyperCKemia. Acid α-glucosidase (GAA) activity was measured on DBS by tandem mass spectrometry. Six patients tested positively for Pompe disease. In three patients, one with the limb-girdle muscle weakness and two with nonspecific hyperCKemia, this was confirmed by genetic analysis. The overall frequency of late-onset Pompe disease in the study population was 4.2%. The c.1784C>T mutation found in one patient is a new mutation whereas the c.1655T>C mutation detected in the other two patients is not novel. In conclusion, Pompe disease should be suspected in patients with limb-girdle muscle weakness and nonspecific hyperCKemia. The DBS test is a safe and reliable method of diagnosis but must be confirmed by genetic analysis. In patients with a positive DBS test and negative genetic analysis, tissue assay of GAA should be considered.

The GABAA Receptor γ2 Subunit (R43Q) Mutation in Febrile Seizures

BACKGROUND Febrile seizure is the most common form of childhood seizure. Although its exact cause is unclear, many researchers emphasize the importance of its genetic predisposition. Recent genetic studies revealed the importance of the mutations of the gamma-aminobutyric acid A receptor as the etiology of the febrile seizures. R43Q mutation affecting the γ2-subunit N-terminal domain has been related to childhood absence epilepsy and febrile seizure. METHODS We investigated R43Q mutations of the GABRG2 gene, located on the long arm of chromosome 5 encoding the γ2-subunit of the gamma-aminobutyric acid A receptor. We studied 44 patients with febrile seizure and 49 children without any febrile seizure who were admitted to our clinic. RESULTS We found that 36% of our patient group, the children who experienced febrile convulsions, had heterozygous R43Q mutation. Statistical studies revealed that heterozygous R43Q mutation of gamma-aminobutyric acid A receptor γ2 subunit was higher in the study group than in the control group (P < 0.01). CONCLUSIONS Heterozygous gamma-aminobutyric acid A receptor γ2 subunit (R43Q) mutation may have an effect in the development of febrile seizures.

Epilepsy classification and additional definitions in occipital lobe epilepsy

AIM To evaluate epileptic children with occipital lobe epilepsy (OLE) in the light of the characteristics of Panayiotopoulos syndrome and late-onset occipital lobe epilepsy of Gastaut (OLE-G). METHODS Patients were categorized into six groups: primary OLE with autonomic symptoms (Panayiotopoulos syndrome), primary OLE with visual symptoms (OLE-G), secondary OLE with autonomic symptoms (P-type sOLE), secondary OLE with visual symptoms (G-type sOLE), and non-categorized primary OLE and non-categorized secondary OLE according to characteristic ictal symptoms of both Panayiotopoulos syndrome and OLE-G, as well as aetiology (primary or secondary). Patients were compared with regards to seizure symptoms, aetiology, cranial imaging, EEG, treatment and outcome. RESULTS Of 108 patients with OLE (6.4±3.9 years of age), 60 patients constituted primary groups (32 with Panayiotopoulos syndrome, 11 with OLE-G, and 17 with non-categorized primary OLE); the other 48 patients constituted secondary groups (eight with P-type sOLE, three with G-type sOLE, and 37 with non-categorized sOLE). Epileptiform activity was restricted to the occipital area in half of the patients. Generalized epileptiform activity was observed in three patients, including a patient with Panayiotopoulos syndrome (PS). Only one patient had refractory epilepsy in the primary groups while such patients made up 29% in the secondary groups. CONCLUSION In OLE, typical autonomic or visual ictal symptoms of Panayiotopoulos syndrome and OLE-G do not necessarily indicate primary (i.e. genetic or idiopathic) aetiology. Moreover, primary OLE may not present with these symptoms. Since there are many patients with OLE who do not exhibit the characteristics of Panayiotopoulos syndrome or OLE-G, additional definitions and terminology appear to be necessary to differentiate between such patients in both clinical practice and studies.

Symptomatic cerebral infarction in a child with severe diabetic ketoacidosis.

Abstract Background: Diabetic ketoacidosis (DKA) is a common initial presentation of pediatric type 1 diabetes mellitus. Intracerebral complications of DKA pose significant mortality and morbidity rates. Objective: Our aim is to emphasize the importance of early identification, investigation, and treatment for patients who present with DKA and stroke. Case report: Here, we report a case of a 4-year-old female patient who presented with ischemic-hemorrhagic stroke as a complication of DKA. Conclusion: Cerebrovascular complications of DKA in children are a rare condition; however, higher risks take place in their youngest age. Clinicians should be aware of these complications so as to develop appropriate approach for its management.