Ibrahim Alatas

Supra- and infra-torcular double occipital encephalocele.

An encephalocele is a protrusion of the brain and/or meninges through a defect in the skull that is closed or covered with skin. Occipital encephaloceles are the most frequent type in North America and Western Europe, where about 85% of encephaloceles take this form. To the best of our knowledge, there are only three other reported cases of double occipital encephaloceles in the literature. The current study reports a double and both supra- and infra-torcular occipital encephalocele in a neonate and discusses the importance of preoperative neuroimaging studies to optimize the outcome. The patient was a 1-day-old male child who was identified by prenatal ultrasound to have two occipital encephaloceles. The patient underwent a closure of the occipital encephalocele on the second postnatal day. The infant tolerated the procedure well and was extubated on the first postoperative day. The child continues to do well during follow-up.

Neural Tube Defects in Jarcho-Levin Syndrome: Study of Twenty-Eight Cases

Jarcho-Levin syndrome (JLS) is a congenital disorder consisting of various vertebral and costal anomalies. Congenital heart defects, abdominal wall malformations, urogenital and anal abnormalities, multiple skeletal anomalies, upper limb anomalies, spina bifida, and inguinal, umbilical and diaphragmatic hernias can be seen as components of JLS. Spina bifida appears to be a common finding in reported JLS cases. We retrospectively reviewed the medical records, plain X-rays and MRIs of patients with spina bifida between 2010 and 2014 and discussed the results.

The role of urodynamic studies in the diagnosis and treatment of patients with spina bifida.

Aim: Spina bifida (SB) is a congenital deformity that is frequently seen in infancy. Surgical treatment and clinical follow-up of patients with the diagnosis of SB are important to provide education to the patients and their relatives, to increase patient survival, to ensure that they have a more comfortable life. Neuro-urological problems are highly important for the patients in terms of both social and medical. Materials and Methods: The medical records of patients who underwent surgery for SB and tethered cord syndrome at our clinic in the past year were retrospectively evaluated. The results of urodynamic studies of the patients were evaluated. The results of patients who underwent control urodynamic studies during the follow-up period were compared with the previous results, and their clinical courses were determined. Results: The most frequent urodynamic changes in patients were hyperactive detrusor activity and detrusor sphincter dyssynergy preoperatively. Conclusion: A significant improvement was observed when the results of postoperative urodynamic studies were evaluated in patients who underwent surgery for tethered cord.

Open Fetal Surgery in Turkey

Dear Editor, Myelomeningocele (MMC) is the most common form of congenital central nervous system defects which is compatible with life. Most patients with MMC have significant functional impairment of ambulation. They also require permanent CSF diversion with shunting and have significant morbidity and mortality from Chiari II malformation. Intrauterine repair of MMC provides multiple advantages to infants, including lower rates of shunt dependency, lower rates of hindbrain herniation, and better motor and disability functional outcomes [1, 2]. Two techniques are used for intrauterine MMC repair and are performed in different centers: open MMC repair and fetoscopic MMC repair [3]. Percutaneous minimally invasive fetoscopic surgery was performed in 4 patients with MMC in our institution in 2015 [4]. In this letter, we would like to report the first case of open fetal surgery for MMC, which was performed in September 2017 in our institution. It is also the first case of open MMC repair which was performed in an institution where percutaneous minimally invasive fetoscopic surgery had previously been performed. The patient was a 33-year-old gravida 5 para 1 who was diagnosed with a male fetus with MMC by ultrasound in the 18th week of gestation. Progressive ventriculomegaly and hind brain herniation were determined in the follow-up. The diagnosis of an L1–L3 lesion was confirmed by fetal MRI (Fig. 1a). Normal karyotype and presence of acetylcholinesterase were determined by amniocentesis. The patient and her family chose to proceed with open fetal surgery after a full evaluation according to the MOMS criteria and counseling by our spina bifida center team. Open fetal surgery was performed at 26w1d using surgical techniques established by the MOMS investigators. Betamethasone was administered for lung maturation 48 h before surgery. A vertical midline subumbilical laparotomy was per-

Morphometric analysis of dose-dependent effect of progesterone on experimental vasospasm-induced rat femoral arteries

Objective: Our aim of this study was to determine effective doses of progesterone which has a vasodilatory effect during the early stage of vasospasm. Cerebral vasospasm (CV) is a predominant cause of morbidity and mortality which develops following subarachnoidal hemorrhage (SAH). Etiopathogenesis of CV is multifactorial. Despite many previously performed studies on this issue, the mechanism by which blood and blood products in the subarachnoidal space induce CV has not been clarified yet. Materials and Methods: In our study, we used “Rat Femoral Artery Vasospasm Model” introduced by Okada et al. Thanks to easy procurement and maintenance of rats. Rats were divided into four groups as: Group 1 (n = 8; control group), Group 2 (n = 8; vasospasm group), Group 3 (n = 8; vasospasm + 3 mg/kg progesterone group), and Group 4 (n = 8; vasospasm +15 mg/kg progesterone group). Progesterone which is an endogenously synthesized natural steroid was preferred in our study. Progesterone increases the production of vasodilatory epoxyeicosatrienoic acid by acting on its binding sites termed as pregnane X receptor. It decreases the intracellular influx of Ca2+ by blocking the functioning of L-type channels in smooth muscle cells. It manifests another vasodilatory effect by decreasing expression of TxA2 receptor. In our study, at the end of the 7th day, where the most intense vasospasm is seen, 1 cm pieces were excised from the femoral arteries and histopathologically examined under light microscope. Results: Vascular walls of three vasospasm-induced groups were relatively thicker when compared with the control group. Drug-treated groups were not different from each other. Vascular walls of the groups treated with lower and higher doses of the drug were thinner when compared with the vasospasm group without any statistically significant difference between groups (P > 0.05). Luminal cross-sectional areas of the drug-treated groups did not differ from each other. Mean luminal cross-sectional areas of the control and the drug-treated groups were larger than that of the vasospasm group without any statistically significant intergroup difference (P > 0.05). Conclusion: Based on the results of our study, progesterone did not exert protective effects on vascular wall thickness, while histopathological examination of luminal cross-sectional areas revealed its vasodilatory effects without any statistically significant difference between groups. Starting from the study results obtained, we think that its potential use as a preventive agent against the development of post-SAH CV requires conduction of multicentered, placebo-controlled, randomized, and double-blind studies.

Comparison between Tc-99m DMSA and Renal Ultrasonography for the Evaluation of Renal Scarring and Function Loss in Children with Spina Bifida

Spina bifida (SB) refers to a wide range of neural tube defects, a neuro-urological disease affecting the spine and spinal cord. With a marked geographic and ethnic variation, SB has an incidence of 1–5 cases per 1000 live births. In Turkey, the incidence is 3 per 1000 live births (1), and in the eastern region of Turkey, it is 2.2 per 1000 live births (2). The basic urological problem in SB is neurogenic bladder dysfunction, resulting in urinary tract infections (UTI), incontinence, vesicoureteral reflux (VUR), hydronephrosis, chronic kidney disease (CKD), hypertension, and end-stage renal failure (3). The goal of treatment is to reduce bladder pressure and minimize urine stasis, thus preventing recurrent febrile UTI and consequent function loss. Patients should be followed up regularly against late referral because SB management is a dynamic and long-lasting process for a life time, and patient selection for aggressive treatment may prevent renal parenchymal deterioration (4).

Foramina parietalia permagna: familial and radiological evaluation of two cases and review of literature

PurposeForamina parietalia permagna is a variable intramembranous ossification defect of the parietal bones. Foramina parietalia permagna have an autosomal dominant inheritance, and it is showed that mutations in chromosome 5 and 11 are causing this anomaly. Enlarged parietal foramina occurs extremely rare. They are usually asymptomatic, but occasional headache, vomiting, pain over unprotected cerebral cortex, and seizures may be experienced by the patients. In the literature, some associated congenital bony defects, soft tissue pathologies, underlying neuronal deficits, and vascular variations have been described.MethodsWe report two cases of foramina parietal permagna with their pedigrees and genetic analysis.ResultsIn case 1, cytogenetic analysis revealed a mutation of the ALX4 gene and all of the members of the family diagnosed with FPP. MRI revealed inferior vermian cerebellar hypoplasia. Surgery was not considered. In case 2, cytogenetic analysis could not be obtained because of financial reasons. Cranial MRI revealed hypoplastic right transverse sinus and sigmoid sinus, with a persistent parafalcine sinus. Surgery was not considered.ConclusionDespite of its rarity, genetic background and some important associated anomalies make foramina parietalia permagna more than an uncommon insignificant genetic disorder.

Tethered cord release after fetal surgery

Dear Editor: This letter reports a case of secondary TC after fetal MMC repair and discusses challenges and results of procedure. Positive effects of fetal surgery on neurologic functions, hind brain herniation, and hydrocephalus were reported before [1, 2]. In 2006, percutaneous minimally invasive fetoscopic surgery for spina bifida aperta was defined in order to reduce maternal injury [3, 4]. Management and surgery of TCS secondary to MMC repair constitutes a challenge in each case, and as neurologic functions are better preserved after fetal surgery, TCS secondary to MMC becomes more important. Our patient was a 6-month-old male. Spina bifida was diagnosed at 20w3d (20 weeks and 3 days) of gestation. Patient was evaluated according toMOMS criteria. Level of posterior fusion defect was L2-S5. Hind brain herniation and banana sign were present. Ventricular size was 11 mm. There was 15 degrees lumbar kyphosis. Spina bifida repair was performed at 25w3d of gestation with percutaneous minimally invasive fetoscopic technique in our institution. Bovine pericardium patch (Lyoplant-Braun, Aesculap, Tuttlingen, Germany) was used for coverage. Fetus was delivered by elective C-section at 37w3d of gestation. Birth weight was 2946 g. Ventricular size was 9 mm in the first day of life. Bilateral hip and knee movements were normal but plantar flexion and dorsal flexion of feet were poor. Patch was partially covered by skin. Regression of hind brain herniation and hydrocephalus was seen in MR studies. Bilateral spontaneous clonic movements occurred in lower extremities in the sixth month of life. Overactive detrusor with detrusor sphincter dyssynergia was determined in both first and sixth month urodynamic studies. But maximal detrusor pressure was found to be increased in consecutive urodynamic studies (from 264 to 370 cmH2O). Tethered cord syndrome was diagnosed in spinal MR images (Fig. 1). Patient was operated for TCS. During the surgery, we have noticed that dissection was harder than other TCS operations for postnatally repaired MMC patients. It was very difficult to find a cleavage between the layers and to define neural tissue. Fibrosis was so dense and fibrous tissue was firm. Clonic movements disappeared after surgery. Postoperatively, bilateral hip and right knee movements were preserved but left knee movements were lost and hyposensitivity occurred below L4 levels. In 2015, percutaneous minimally invasive fetoscopic surgery for spina bifida aperta was performed in four patients in our institution. MOMS criteria was used in selection of patients. Reversal of hind brain herniation and preserved neurological functions were noticed in all cases and no shuntingwas required in any patient. One patient was operated for TCS in the sixth month of life. It is reported that surgery for TCS was performed in 8% (6/77) of patients after open fetal surgery in the first year of life [1]. Proportion of tethered cord release is reported as 2.8% (2/71) in a minimally invasive surgery group [2]. Although our study group is very small in this report, this number seems to be 25% in our patient group. This patient has the highest lesion level among our four patients. Lesion levels of other three patients were L5-S5, L5-S5, and L5-S1, respectively. Furthermore, he was the only patient with lumbar kyphosis (15 degrees) in our patient group. In our opinion, lesion level and existence of lumbar kyphosis may have a role in the pathophysiology of TCS after * H. Canaz huseyin.canaz@istanbulbilim.edu.tr

Pituitary adenoma in monozigotic twins with Cri du Chat syndome: a rare case report

Abstract Pituitary adenomas are rare tumours of pediatric population. In etiology, genetic factors are more common than they are in adults. Because of the rarity of the cases, there are only a few large case studies in the literature. Pituitary tumours in children are often related with syndromes like MEN type 1, Carney Complex and Mc Cune Albright, but there is no case in the literature associated with Cri Du Chat syndrome. Statisticlly, it has been reported that, pediatric tumours occur more often in twins, in the pediatric population. Main treatment for prolactinomas is medical intervention with dopamine agonists, as in adults. Surgery is prefered when the tumour is resistant to medical treatment or shows mass effects around sellae. In that situation, as in adults, both transcranial and transsphenoidal approach is possible.

Statistical analysis of associated vertebra and costal anomalies in spina bifida patients

Abstract Objective: Spina bifida is one of the most severe birth defects and can happen as a result of disrupted primary neurulation. Congenital vertebra and costa anomalies are more frequently seen with spina bifida, and associated anomalies significantly affect the prognosis of affected children. In this study, we aimed to determine the incidence of scoliosis, costal anomalies, and vertebral deformations seen at the time of diagnosis and to statistically evaluate their concomitancies. Methods: Gender and mean ages of the patients were determined. The spina bifida patients were examined for deformation anomalies, butterfly vertebra, hemivertebra, wedge vertebra, costal anomalies and scoliosis. The relationships between these anomalies were evaluated. Results: 94 patients with a mean age of 11,5 months examined. The incidence of scoliosis was 21.8% among female infants and 17.9% among males. Rates of scoliosis with vertebra anomalies (hemivertebra, wedge vertebra) and costal anomalies did not differ significantly (P > 0.05). Wedge vertebra were the most frequent vertebra anomaly type with 38.2% ratio. Costal anomalies were detected in 25.5% of females and 20.5% of male infants. Hemivertebra and wedge vertebra were seen significantly more frequently in this group. Gender distribution did not differ between with and without any vertebra types. Conclusion: Congenital vertebra and costa anomalies are more frequently seen with spina bifida. We believe that these anomalies and relationship with spina bifida may demonstrate differences among different ethnic groups or locations. More detailed multi-centered studies performed on this issue will aid in the determination of etiologies, genetics, and treatment principles of these congenital anomalies.