Survey on Untethering of the Spinal Cord and Urological Manifestations among Spina Bifida Patients in Malaysia.

The incidence and severity of urinary tract infections (UTIs) due to spina bifida is poorly understood in Malaysia. Tethering of the spinal cord is a pathological fixation of the cord in the vertebral column that can result in neurogenic bladder dysfunction and other neurological problems. It occurs in patients with spina bifida, and the authors of this study sought to investigate the impact of untethering on the urological manifestations of children with a tethered cord, thereby consolidating a previously known understanding that untethering improves bladder and bowel function. Demographic and clinical data were collected via an online questionnaire and convenient sampling techniques were used. A total of 49 individuals affected by spina bifida participated in this study. UTIs were reported based on patients' observation of cloudy and smelly urine (67%) as well as urine validation (60%). UTI is defined as the combination of symptoms and factoring in urine culture results that eventually affects the UTI diagnosis in spina bifida individuals irrespective of CISC status. Furthermore, 18% of the respondents reported being prescribed antibiotics even though they had no history of UTI. Therefore, indiscriminate prescription of antibiotics by healthcare workers further compounds the severity of future UTIs. Employing CISC (73%) including stringent usage of sterile catheters (71%) did not prevent patients from getting UTI. Overall, 33% of our respondents reported manageable control of UTI (0-35 years of age). All individuals below the age of 5 (100%, n = 14) were seen to have improved urologically after the untethering surgery under the guidance of the Malaysia NTD support group. Improvement was scored and observed using KUB (Kidneys, Ureters and Bladder) ultrasound surveillance before untethering and continued thereafter. Spina bifida individuals may procure healthy bladder and bowel continence for the rest of their lives provided that neurosurgical and urological treatments were sought soon after birth and continues into adulthood.

Eph and Ephrin Variants in Malaysian Neural Tube Defect Families.

Neural tube defects (NTDs) are common birth defects with a complex genetic etiology. Mouse genetic models have indicated a number of candidate genes, of which functional mutations in some have been found in human NTDs, usually in a heterozygous state. This study focuses on Ephs-ephrins as candidate genes of interest owing to growing evidence of the role of this gene family during neural tube closure in mouse models. Eph-ephrin genes were analyzed in 31 Malaysian individuals comprising seven individuals with sporadic spina bifida, 13 parents, one twin-sibling and 10 unrelated controls. Whole exome sequencing analysis and bioinformatic analysis were performed to identify variants in 22 known Eph-ephrin genes. We reported that three out of seven spina bifida probands and three out of thirteen family members carried a variant in either EPHA2 (rs147977279), EPHB6 (rs780569137) or EFNB1 (rs772228172). Analysis of public databases shows that these variants are rare. In exome datasets of the probands and parents of the probands with Eph-ephrin variants, the genotypes of spina bifida-related genes were compared to investigate the probability of the gene-gene interaction in relation to environmental risk factors. We report the presence of Eph-ephrin gene variants that are prevalent in a small cohort of spina bifida patients in Malaysian families.

Ruptured Giant Left Distal Anterior Cerebral Artery Aneurysm in a Two-Month-Old Baby.

BACKGROUND: The incidence of intracranial aneurysm in childhood is rare, especially in infancy. In the literature, most of childhood intracranial aneurysms occur in the posterior and middle cerebral circulation. We report a case of a ruptured giant left distal anterior cerebral artery aneurysm in a 2-month-old baby. This report will discuss the rarity of this case as well as the diagnostic and surgical challenges in treating this condition. CASE REPORT: A 2-month-old baby girl presented to our centre with a 1-day history of multiple afebrile seizures. A CT scan of her brain showed a large frontal interhemispheric acute bleed with intraventricular extension and acute hydrocephalus. An external ventricular drain was inserted and she was nursed in the Paediatric Intensive Care Unit. Subsequent CT angiogram and 4-vessel angiogram showed a giant aneurysm originating from the A3 segment of the left anterior cerebral artery. She underwent craniotomy and clipping and excision of the giant aneurysm. DISCUSSION: Giant distal anterior artery aneurysms are very rare in infants. They are more commonly associated with the posterior and middle cerebral arteries. The aneurysms in infants tend to be larger compared to adults and they commonly present with subarachnoid haemorrhage and seizures. CT angiogram and 4-vessel cerebral angiogram are important diagnostic tools in this case. The angiogram demonstrated no distal runoff from the aneurysm and this assisted in our planning for surgical treatment of the aneurysm. A bifrontal craniotomy was done and the giant aneurysm was approached interhemispherically. The proximal and distal parent vessel was clipped and the aneurysm wall was excised. The baby recovered from surgery and did not require any cerebrospinal fluid diversion. CONCLUSION: Giant distal anterior cerebral artery aneurysms are rare in infants. Detailed angiographic investigation is important. Surgery is the treatment of choice, although there may be a role for endovascular intervention.