Sturge-Weber Syndrome Type III

Sturge-Weber syndrome (SWS) is a neurogenetic disease with an incidence of 1 in 20.000-50.000 live births. The less common form, which can be difficult to diagnose and only involves leptomeningeal angioma, has been defined as Type III SWS. A 5.5-month-old male patient with normal neuromotor development presented with right sided partial seizures, which had been occurring frequently for the previous two days and could not be controlled. A cranial magnetic resonance imaging showed pathological contrasts in the cortical regions involving the left hemisphere and in the leptomeningeal structures. We aim to present the case of an infant with SWS, which unlike the classical form was unidentifiable in physical examination and diagnosed using imaging methods

Determining Risk Factors of Epilepsy in Children with Cerebral Palsy: A Retrospective Study

Aim: The aim of this study is to determine the risk factors of epilepsy development in children with cerebral palsy. Materials and Methods: Data of 234 cerebral palsy patients treated at Ege University Pediatrics Department, Child Neurology Division between January 2008 and December 2015 were evaluated retrospectively. All patients were classified into two groups; Group I: cerebral palsy without epilepsy (n=116) and Group II: cerebral palsy with epilepsy (n=118). The clinical and laboratory findings of the groups were compared to each other, a p value of less than 0.05 was considered as statistically significant. Results: There was no significant difference between the two groups in terms of gender, gestastional age, birth type, birth weight, risk factors for cerebral palsy development (pre-/peri-/postnatal), duration of neonatal intensive care stay and the need for mechanical ventilation (p>0.05). The risk factors of epilepsy were determined as the following; the presence of neonatal convulsions, focal clonic and generalized tonic neonatal seizures, an abnormal baseline rhythm on neonatal electroencephalography (EEG), discharge from neonatal intensive care unit with at least one antiepileptic drug, spastic bilateral (tetraplegic) cerebral palsy, epileptic activity on the sixth month EEG, abnormal cranial magnetic resonance imaging findings, mental retardation, microcephaly and visual problems. Conclusion: Epilepsy is a common problem in children with cerebral palsy. Therefore, cases of cerebral palsy, especially those with the determined risk factors should be closely monitored for epilepsy in order to ensure a timely diagnosis and proper treatment

De Novo CHRNE Mutation: Congenital Myasthenic Syndrome

Congenital myasthenic syndromes (CMS) are neuromuscular hereditary diseases with the symptoms of fatigue, weakness, ptosis, ophthalmoparesis and respiratory problems. This disease group is classified as CMS originating from the presynaptic region, synaptic gap and postsynaptic region according to the origin of the neuromuscular junction. Most of these patients are affected by receptor defects originating from the postsynaptic gap. Here, we present a case who was thirteen years old and had a CHRNE genotype p.Y124 *(c.372C> G) homozygous mutation, which is associated with weakness, low voice, ophthalmoparesis and frequent respiratory infection since birth. Our patient has been diagnosed with non-kinetic AChR deficiency and the case is important with the detection of a new mutation

The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia

Pyridoxine-dependent epilepsy (PDE) is a rare but an important condition, since early diagnosis and treatment result in normal or near normal psychomotor development. It is caused by mutations in the Antiquitin (ALDH7A1) gene. Different clinical findings may appear in the deficiency of pyridoxine, which is the cofactor of many enzymes. A wide variety of clinical and laboratory findings can cause confusion during diagnosis. We present a male with neonatal convulsions; structural brain anomaly, hyperglycinemia in CSF/plasma, with ALDH7A1 Compound heterozygote mutation

Polyneuropathy After Gastric By-pass Surgery

Günümüzde hızla artış gösteren obezite önemli derecede mortalite ve morbiditeye neden olmaktadır. Diyete ve egzersize rağmen önüne geçilemeyen kilo artışı ve beraberinde getirdiği hastalıklar nedeniyle tedavide gastrik bypass uygulaması sıkça kullanılmaktadır. Kısa sürede sonuç alınan bu yöntemin komplikasyonlarından başlıcaları ise sonrasında oluşabilecek nütrisyonel eksiklikler ve bu eksiklikler sonucunda ortaya çıkan klinik tablolardır. Morbid obezite nedeniyle gastrik by-pass uygulanmış ve sonrasında polinöropati gelişen bir hastayı sunmayı amaçladık.Today rapidly increasing obesity causes significant morbidity and mortality. Gastric by-pass is frequently used for the treatment of morbid obesity, which cannot be controlled with diet and exercise. Although this treatment modality achieves rapid success, it also has several complications such as nutritional deficiency and its clinical results. We aimed to present a patient with polyneuropathy after having undergone gastric by-pass surgery for morbid obesity

Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emery-dreifuss muscular dystrophy

Dropped head syndrome can be seen in many neuromuscular diseases. However, there are very few diseases in which neck extensors are weak among neuromuscular diseases. A 7 years old boy who had weakness of the neck extensor muscles, creatinine kinase elevation and dystrophy findings in biopsy followed up with the preliminary diagnosis of muscular dystrophy is presented. We detected p.N456K (c.1368C> A) heterozygote mutation by the gene sequencing in the Lamin A/C assocıated (LMNA) gene. This mutation was previously reported as Emery-Dreifuss muscular dystrophy