Abusive Head Traumas in 4 Infants / 대한신경손상학회지

Pediatric abusive head trauma (AHT) is a serious, repeated child abuse that causes grave brain damage. In Korea, AHT cases have been reported rarely, especially infants. We present 4 cases of AHT in infants diagnosed in our institution during last 2 years. We collected the demographic data, ophthalmologic examination, imaging study, and outcomes. The mean age was 7.2 months, and 2 infants were girls and the others were boys. All four were admitted with no history of head trauma, and among them 2 patients presented with an episode of seizure and respiratory arrest with no history of head trauma. The initial mental status was semi-coma in 3 cases, and stupor in 1 case. There were multiple retinal hemorrhages in both eyes in 2 cases; one had multiple old fractures on the extremities and another child showed multiple skull fractures. All patients underwent emergent surgery for acute bilateral subdural hemorrhages; 3 had craniotomy and another had burr-hole drainage. Two children expired and the other 2 are in vegetative status. The AHT has recently become more frequent in Korea so that neurosurgeons must alert AHT even in infants with head trauma.

Neurodevelopmental Prognostic Factors in 73 Neonates with the Birth Head Injury / 대한신경손상학회지

OBJECTIVE: The objective of this study was to reinterpret the neurodevelopmental prognostic factors that are associated with birth head injury by performing a long-term follow-up. METHODS: Seventy-three neonates with head injuries were retrospectively analyzed after a duration of 10.0±7.3 years to determine the correlations between perinatal factors, including gender, head circumference, gestational age, body weight, and mode of delivery, and head injury factors from radiologic imaging with social, fine motor, language, and motor developmental quotients. RESULTS: There was a statistically significant difference between perinatal factors and head injury factors with respect to head circumference, body weight, gestational age, mode of delivery, Apgar scores at 1 min, cephalohematoma, subdural hemorrhage, subarachnoid hemorrhage, and hypoxic injury, but no direct correlation by regression analysis was observed between perinatal factors and developmental quotients. Of the head injury factors, falx hemorrhage showed a significant indirect relationship with the language and motor developmental quotients. Mode of delivery, subgaleal hematoma, cephalohematoma, greenstick skull fracture, epidural hemorrhage (EDH), tentorial hemorrhage, brain swelling, and hypoxic injury showed an indirect relationship with social development. CONCLUSION: In terms of perinatal factors and head injury factors, mode of delivery, subgaleal hematoma, cephalohematoma, greenstick skull fracture, EDH, tentorial hemorrhage, falx hemorrhage, brain swelling, and hypoxic injury displayed an indirect relationship with long-term development, and therefore these factors require particular attention for perinatal care.

Smartphone Fundus Photography in an Infant with Abusive Head Trauma

PURPOSE: To report fundus photography using a smartphone in an infant with abusive head trauma. CASE SUMMARY: An 8-month-old male infant presented to the emergency room with decreased consciousness and epileptic seizures that the parents attributed to a fall from a chair. He had no external wounds or fractures to the skull or elsewhere. However, computerized tomography of the brain revealed an acute subdural hematoma in the right cranial convexity and diffuse cerebral edema, leading to a midline shift to the left and effacement of the right lateral ventricle and basal cistern. The attending neurosurgeon promptly administered a decompressive craniectomy. Immediately after the emergency surgery, a fundus examination revealed numerous multi-layered retinal hemorrhages in the posterior pole extending to the periphery in each eye. He also had white retinal ridges with cherry hemorrhages in both eyes. We acquired retinal photographs using the native camera of a smartphone in video mode. The photographer held the smartphone with one hand, facing the patient's eye at 15–20 cm, and held a 20 diopter condensing lens at 5 cm from the eye in the other hand. Our documentation using a smartphone led to a diagnosis of abusive head trauma and to obtain the criminal's confession, because the findings were specific for repetitive acceleration-deceleration forces to an infant`s eye with a strong vitreoretinal attachment. CONCLUSIONS: This ophthalmic finding had a key role in the diagnosis of abusive head trauma. This case presented the diagnostic use of a smartphone for fundus photography in this important medicolegal case.

Clinical Comparison of the Predictive Value of the Simple Skull X-Ray and 3 Dimensional Computed Tomography for Skull Fractures of Children

OBJECTIVE: In the pediatric population the skull has not yet undergone ossification and it is assumed that the diagnostic rate of skull fractures by simple X-rays are lower than that of adults. It has been recently proposed that the diagnostic rates of skull fractures by 3-dimensional computer tomography (3D-CT) are higher than simple X-rays. The authors therefore attempted to compare the diagnostic rates of pediatric skull fractures by simple X-rays and 3D-CTs with respect to the type of fracture. METHODS: One-hundred patients aged less than 12 years who visited the Emergency Center for cranial injury were subject to simple X-rays and 3D-CTs. The type and location of the fractures were compared and Kappa statistical analysis and the t-test were conducted. RESULTS: Among the 100 pediatric patients, 65 were male and 35 were female. The mean age was 50+/-45 months. 63 patients had simple skull fractures and 22 had complex fractures, and the types of fractures were linear fractures in 74, diastatic fractures 15, depressed fractures in 10, penetrating fracture in 1, and greenstick fractures in 3 patients. Statistical difference was observed for the predictive value of simple skull fractures' diagnostic rate depending on the method for diagnosis. A significant difference of the Kappa value was noted in the diagnosis of depressed skull fractures and diastatic skull fractures. CONCLUSION: In the majority of pediatric skull fractures, 3D-CT showed superior diagnosis rates compared to simple skull X-rays and therefore 3D-CT is recommended whenever skull fractures are suspected. This is especially true for depressed skull fractures and diastatic skull fractures.

Craniofacial malformation treatment: craniosynostosis and positional plagiocephaly

After the publication of the modern Virchow's suture fusion hypothesis regarding craniosynostosis, various types of linear craniotomy have been developed. However, after the Moss's functional matrix hypothesis became known, extensive cranial remodeling surgical procedures have emerged. However, a recent view that the cause of craniosynostosis may be due to gene mutation has led to a tendency toward treating craniosynostosis with minimally invasive surgery including endoscopic surgery and distraction procedures that utilize springs or distractors. As nonsyndromic craniosynostoses are accompanied by unilateral coronal or lambdoid craniosynostosis, and syndromic craniosynostoses are accompanied by facial anomalies, it is presumed that cranial anomalies are accompanied by facial anomalies. However, the "back to sleep" campaign that was initiated in the 1990's in order to prevent infantile death syndrome led to research in the dramatic increase in the incidence of craniofacial anomalies, which resulted in the establishment of the positional plagiocephaly concept, which has also been ascertained in animal experiments. Despite these advances, the basic problem of whether craniosynostosis is simply a cosmetic anomaly or whether it is a neurological disease that is accompanied by complications such as increased intracranial pressure has not been resolved. The consequent confusion has prevented establishment of the optimal timing for surgery and the type of surgical procedure. The authors of this study review the history of craniosynostosis treatment and attempt to clarify the situation pertaining to the surgical treatment concepts and limitations.

Quantitative Analysis of Developmental Process of Cranial Suture in Korean Infants

OBJECTIVE: The purpose of this study was to elucidate the anatomical development of physiologic suture closure processes in infants using three dimensional reconstructed computed tomography (CT). METHODS: A consecutive series of 243 infants under 12 months of age who underwent three dimensional CT were included in this study. Four major cranial sutures (sagittal, coronal, lambdoidal and metopic suture) were classified into four suture closure grades (grade 0=no closure along the whole length, grade 1=partial or intermittent closure, grade 2=complete closure with visible suture line, grade 3=complete fusion (ossification) without visible suture line), and measured for its closure degree (suture closure rates; defined as percentage of the length of closed suture line divided by the total length of suture line). RESULTS: Suture closure grade under 12 months of age comprised of grade 0 (n=195, 80.2%), grade 1 (n=24, 9.9%) and grade 2 (n=24, 9.9%) in sagittal sutures, whereas in metopic sutures they were grade 0 (n=61, 25.1%), grade 1 (n=167, 68.7%), grade 2 (n=6, 24%) and grade 3 (n=9, 3.7%). Mean suture closure rates under 12 months of age was 58.8% in metopic sutures, followed by coronal (right : 43.8%, left : 41.1%), lambdoidal (right : 27.2%, left : 25.6%) and sagittal sutures (15.6%), respectively. CONCLUSION: These quantitative descriptions of cranial suture closure may help understand the process involved in the cranial development of Korean infants.

Two Children with Saethre-Chotzen Syndrome Confirmed by the TWIST1 Gene Analysis

Saethre-Chotzen syndrome is an autosomal dominant craniosynostosis syndrome, usually involving unior bilateral coronal synostosis and mild limb deformities, and is induced by loss-of-function mutations of the TWIST1 gene. Other clinical features of this syndrome include ptosis, low-set ears, hearing loss, hypertelorism, broad great toes, clinodactyly, and syndactyly. The authors of the present study report 2 children with clinical features of Saethre-Chotzen syndrome who showed mutations in the TWIST1 gene, and is the first molecular genetic confirmation of Saethre-Chotzen syndrome in Korea. The molecular genetic testing of the TWIST1 gene for patients with coronal synostoses is important to confirm the diagnosis and to provide adequate genetic counseling.

A Korean Family with the Muenke Syndrome

The Muenke syndrome (MS) is characterized by unicoronal or bicoronal craniosynostosis, midfacial hypoplasia, ocular hypertelorism, and a variety of minor abnormalities associated with a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. The birth prevalence is approximately one in 10,000 live births, accounting for 8-10% of patients with coronal synostosis. Although MS is a relatively common diagnosis in patients with craniosynostosis syndromes, with autosomal dominant inheritance, there has been no report of MS, in an affected Korean family with typical cephalo-facial morphology that has been confirmed by molecular studies. Here, we report a familial case of MS in a female patient with a Pro250Arg mutation in exon 7 (IgII-IGIII linker domain) of the FGFR3 gene. This patient had mild midfacial hypoplasia, hypertelorism, downslanting palpebral fissures, a beak shaped nose, plagio-brachycephaly, and mild neurodevelopmental delay. The same mutation was confirmed in the patient's mother, two of the mother's sisters and the maternal grandfather. The severity of the cephalo-facial anomalies was variable among these family members.

A Case of Infantile Meningioangiomatosis with a Separate Cyst

Meningioangiomatosis (MA) is a rare congenital tumor that occurs mostly in 5-15 year old children. There have been only 5 cases previously reported that described the cystic nature within these tumors. We present a case of a MA accompanied by a separate macrocyst. A normally developed 2 year-old female patient presented with partial and generalized seizures. The brain computerized tomogram and magnetic resonance imaging revealed the presence of a calcified mass accompanied by a cyst in the right parietal area, surrounded by low density and high attenuation edema and hemorrhage. Upon right parietal craniotomy, a 1.6 cm x 1.2 cm x 0.5 cm sized plate-like, gray-white, slightly hard mass was seen and it was completely excised. Approximately 1 cm from the mass in the anterior lateral direction, a cyst was found and subsequent biopsy of the cyst wall revealed no tumor tissue, and therefore the cyst was not removed. Pathologic report demonstrated the meningioangiomatosis. Follow up examination 2 years later showed no recurrence of the tumor, and there was no evidence of neurological deficits. Authors suggest that cysts that arise in the surrounding tissues of tumors may not be tumor cysts, and do not require surgical removal.

Risk Factors Predicting Unfavorable Neurological Outcome during the Early Period after Traumatic Brain Injury

OBJECTIVE: We aimed to identify clinico-radiological risk factors that may predict unfavorable neurological outcomes in traumatic brain injury (TBI), and to establish a guideline for patient selection in clinical trials that would improve neurological outcome during the early post TBI period. METHODS: Initial clinico-radiological data of 115 TBI patients were collected prospectively. Regular neurological assessment after standard treatment divided the above patients into 2 groups after 6 months : the Favorable neurological outcome group (GOS : good & moderate disability, DRS : 0-6, LCFS : 8-10) and the Unfavorable group (GOS : severe disability-death, DRS : 7-29 and death, LCFS : 1-7 and death). RESULTS: There was a higher incidence of age > or =35 years, low initial GCS score, at least unilateral pupil dilatation, and neurological deficit in the Unfavorable group. The presence of bilateral parenchymal lesions or lesions involving the midline structures in the initial brain CT was observed to be a radiological risk factor for unfavorable outcome. Multivariate analysis demonstrated that age and initial GCS score were independent risk factors. The majority of the Favorable group patients with at least one or more risk factors showed improvement of GCS scores within 2 months after TBI. CONCLUSION: Patients with the above mentioned clinico-radiological risk factors who received standard treatment, but did not demonstrate neurological improvement within 2 months after TBI were deemed at risk for unfavorable outcome. These patients may be eligible candidates for clinical trials that would improve functional outcome after TBI.

Monoblock Craniofacial Internal Distraction in a Child with Pfeiffer Syndrome: A Case Report

A 7-yr-old boy visited our surgical center with Pfeiffer syndrome type 1, presenting with macrocrania, broad big toe and thumb, exophthalmos, tongue protrusion, malocclusion with midfacial retrusion, mild respiratory difficulty due to minor upper airway obstruction, and developmental delay. He also exhibited anthrophobia with a passive character. The patient was treated with internal monoblock distraction osteogenesis to increase the intracranial and intraorbital volumes, and the nasal and pharyngeal airway spaces using two modular mid-facial internal distractors. For distraction, the latency period was 1 week, the daily activation of 1.0 mm was 20 days (total advancement 20 mm at the midline), and the consolidation period was 3 months. The follow-up computed tomography 12 months after surgery showed expansion of the brain and proper ossification in the distracted area. The patient also showed aesthetically good cranial contours, improved tongue and eyeball protrusion, no respiratory difficulty, and improved learning. We suggest that the internal distraction may last longer than an external type, resulting in a better bone fusion rate and successful expansion of craniofacial bones.

Coil Embolization of High-flow Pial Arteriovenous Fistula and Management of Hyperperfusion Syndrome: a Case Report / 신경중재치료의학

Intracranial pial arteriovenous fistulas (AVFs) are uncommon, high-flow connection between an artery and a vein without an intervening nidus, vascular lesions treated using endovascular approach with a variety of embolic materials. To our knowledge, hyperperfusion syndrome as a result of embolization of pial AVFs has not been reported before. We report our experience in the treatment of high-flow pial AVF using detachable coils and hyperperfusion syndrome after coil embolization.

A Case of an Addition of Chromosome 9 Short Arm Associated with Multiple Congenital Anomalies

Human chromosome 9 is characterized by a high degree of morphologic heteromorphisms, including variation in the size of the heterochromatin. We present a case of a de novo short arm addition of chromosome 9, [46, XY, add(9)(p13)], associated with multiple anomalies, including trigonocephaly, upward slant of the palpebral fissures, patent ductus arteriosus, pulmonary hypertension, hypertrophic cardiomyopathy, umbilical hernia, ambiguous genitalia, and sensorineural hearing and visual loss. This mutation affects the pericentric region of the heterochromatin. This patient exhibited a clinically important breakpoint of the heterochromatic region of chromosome 9 short arm and the associated anomalies.

Spontaneous Spinal Epidural Hematoma in an Infant : A Case Report and Review of the Literature

Spontaneous spinal epidural hematoma (SSEH) is rare in children, especially in infants, in whom only 12 cases have been reported. Because of the nonspecificity of presenting symptoms in children, the diagnosis may be delayed. We report herein a case of SSEH in a 20-month-old girl who initially presented with neck pain, and developed lower extremity motor weakness and symptoms of neurogenic bladder 2 weeks prior to admission. The magnetic resonance imaging showed an epidural mass lesion extending from C7 to T4, and the spinal cord was severely compressed by the mass. After emergency decompressive surgery the neurologic function was improved immediately. Two months after surgery, the neurological status was normal with achievement of spontaneous voiding. We suggest that surgical intervention can provide excellent prognosis in case of SSEH in infants, even if surgery delayed.

The First Neurosurgical Analysis of 8 Korean Children with Sotos Syndrome

OBJECTIVE: Sotos Syndrome is characterized by macrocephaly, overgrowth, and developmental delay, and more than 300 patients have been reported worldwide to date. The authors reviewed the clinical characteristics of 8 patients with Sotos Syndrome in Korea for a new understanding and treatment strategies. METHODS: The medical records of a total of eight Korean children with Sotos Syndrome were reviewed. All patients underwent developmental checkup, lumbar punctures for measurement of intracranial pressure (ICP), brain and spine magnetic resonance imaging and computerized tomography. RESULTS: All 8 patients showed macrocephaly and the characteristic craniofacial features of Sotos Syndrome. Other clinical characteristics shown were overgrowth (7/8), developmental delay (7/8), congenital heart defect (3/8), flat foot (8/8), scoliosis (4/8), spina bifida (8/8), hydrocephalus (4/8), cavum vergae (3/8), and increased subdural fluid collection (5/8). Mean ICP measured via lumbar puncture was 27.35+/-6.25 cm H2O (range 20 to 36 cm H2O). Two patients received ventriculo-peritoneal shunt, and 1 patient underwent subduro-peritoneal shunt with improvement. Spinal orthosis was applied to 4/5 patients with scoliosis and 4/8 children with flat foot were provided with foot orthosis. CONCLUSION: In this first Korean study of 8 Sotos Syndrome patients we demonstrated the presence of spina bifida and increased ICP, which had not been previously described. The authors therefore suggest that all patients with Sotos Syndrome should undergo examination for the presence of spina bifida, and that shunt procedures would improve development and alleviate clinical symptoms.

Tethered Spinal Cord with Double Spinal Lipomas

Although lumbosacral lipoma is reported to occur in 4-8 of 100,000 patients, and 66% of lipomyelomeningoceles in young patients are accompanied by hypertrophic filum terminale, it is very rare to find two isolated spinal lipomas simultaneously. A 3 month-old baby girl was admitted to the hospital for a protruding, non-tender, soft, subcutaneous 2.5 cm mass of the lumbosacral area that had been present since birth. Simple radiography showed a spinal posterior arch defect from L3 to L5, and magnetic resonance imaging (MRI) demonstrated two isolated spinal lipomas, a transitional type from L3 to L5, and a terminal type below S1 without dural defect. The cornus medullaris was severely tethered descending to the S1, but there was no cerebellar or brain stem herniation on the MRI. We suggest that the presence of a combined spinal lipoma should be a point for careful differentiation in an infant with spinal lipoma.

A Case of Pfeiffer Syndrome

Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested by bicoronal craniosynostosis, broad thumbs, and big toes. The infant also had bilateral syndactyly of the fingers and toes, mild proptosis, choanal hypoplasia and maxillary hypoplasia.

Biodegradable Polymer Releasing Antibiotic Developed for Drainage Catheter of Cerebrospinal Fluid:In Vitro Results

The authors developed a biodegradable polymer that releases an antibiotic (nalidixic acid) slowly and continuously, for prevention of catheter-induced infection during drainage of cerebrospinal fluid. We investigated the in vitro antibiotic releasing characteristics and bacterial killing effects of the new polymer against E. coli. The novel fluoroquinolone polymer was prepared using diisopropylcarbodiimide, poly (e-capro-lactone) diol, and nalidixic acid. FT-IR, mass spectrometry, and elemental analysis proved that the novel antibacterial polymer was prepared successfully without any side products. Negative MS showed that the released drug has a similar molecular weight (M.W.=232, 350) to pure drug (M.W.=232). In high pressure liquid chromatography, the released drug and drug-oligomer showed similar retention times (about 4.5-5 min) in comparison to pure drug (4.5 min). The released nalidixic acid and nalidixic acid derivatives have antibacterial characteristics against E. Coli, Staphylococcus aureus, and Salmonella typhi, of more than 3 months duration. This study suggests the possibility of applying this new polymer to manufacture drainage catheters that resist catheter-induced infection, by delivering antibiotics for a longer period of more than 1 month.

Surgical Treatment of Subdural Hygromas in Infants and Children

OBJECTIVE: There is no acceptable indication and treatment of choice for infantile and child subdural hygroma and there are only a few reports about that in Korea. So the authors studied the clinical findings of infantile and child patients with subdural hygroma to improve the understanding and to suggest a standard treatment method. METHODS: The authors retrospectively evaluated the causes, preoperative symptoms, radiological thicknesses, and postoperative results of 25patients with subdural hygroma who received surgical therapy. RESULTS: There were 16boys and 9girls whose median age was 6months(range 2~120months). The main clinical manifestations were seizures, increased intracranial pressure, macrocrania and alteration of consciousness. Radiological thicknesses of the subdural hygroma varied from 7mm to 42mm and postoperative changes of thickness(y) could be expressed with the factor of month(x): y = -1.32 x +11.8 in subdural drainage, and y = -1.52 x +14.9 in subduroperitoneal shunts. Of the 25patients, 2 (50%) were successfully treated by aspiration, 13 (59%) by subdural drainage, and 9 (69%) by subduroperitoneal shunt. CONCLUSION: It is suggested that the diagnosis and treatment of subdural hygroma in infants and children should be carefully addressed because of its high prevalence in children, and especially in infants. It is also suggested that the subdural drainage could be primary initial treatment method because it is simpler than a shunt, and since our data show that there is no statistical difference in postoperative recovery duration between the two operative methods.

Increased Viability by Over-Expression of Bcl-XL in a Human Neural Progenitor Cell Line

OBJECTIVE: This study is aimed whether bcl-xl could protect C4 cells from the cell death induced by serum deprivation. METHODS: The transient transfection of the bcl-xl gene was made with a LipofectAMINE reagent. An immunohistocytochemical assay and Western-blotting were performed to examine the bcl-xl transfection into the C4 cells. In order to analyze the effect of the bcl-xl transfection, the number of cells on the well plate were serially counted each day, for 5 days, from the 2nd to the 6th day after transfection. The number of GFP-positive cells in the defined fields, following serum deprivation, was counted using fluorescence microscopy, and the total number of viable cells, including transfected cells, were also assessed. RESULTS: Immunocytochemical staining showed positive cells in 52% of nestin staining, 60% of GFAP and 20% of MAP-2. The number of cells decreased after transfection using the LipofectAMINE in the serum free medium (p<0.001). Western blotting using an anti-human bcl-xl antibodies showed that bcl-xl was expressed in both the non-transfected and bcl-xl transfected C4 cells. Cell death in the C4 cells, and the number of cells, were serially monitored each day for 5 days. In the bcl-xl transfected cells, the cell death induced by serum deprivation was significantly inhibited and delayed compared to that in the control cells (p<0.001). CONCLUSION: It is suggested that the bcl-xl transfected human neural progenitor cells might improve the survival of the grafted cells, and may be an alternative source of cells for neural transplantation in degenerative diseases.