A Case of Neonate with Split Cord Malformation Presenting with Hypoplasia of the Left Lower Extremity.

The frequency of split cord malformation (SCM) is approximately 1 in 5000 births; however, patients are rarely diagnosed with SCM in the neonatal period. Moreover, there have been no reports of SCM with hypoplasia of the lower extremities at birth. A 3-day-old girl was transferred to our hospital for a thorough examination of hypoplasia of the left lower extremity and lumbosacral abnormalities detected after birth. The spinal magnetic resonance imaging (MRI) revealed a split spinal cord in a single dural tube. Based on the MRI findings, the patient was diagnosed with SCM type II. Following discussions with the parents, pediatricians, neurosurgeons, psychologists, and social workers, we decided to perform untethering to prevent further neurological impairment after achieving a sufficient body weight. The patient was discharged on day 25 of life. Early diagnosis and intervention may improve the neurological prognosis in terms of motor function, bladder and bowel function, and superficial sensation; thus, clinicians should report infrequent findings that may lead to SCM diagnosis. SCM should be differentiated in patients with left-right differences in the appearance of the lower extremity, particularly in those with lumbosacral abnormalities.

[Surgical Site Infections in Hydrocephalus Surgery and Pediatric Neurosurgery].

Hydrocephalus surgery is one of the most frequently performed procedures in pediatric neurosurgery. The incidence of surgical site infections during this surgery is high. This complication has not improved with the evolution of neurosurgical procedures. This may be due to immature immune system and skin barrier function of children compared to adults and the fact that hydrocephalus surgery involves placement of an alien surgical device in the body. To overcome this issue, it is important to follow procedures that have been validated as beneficial for the prevention of infection in literature. Therefore, in this article, we present our current understanding of infectious complications of hydrocephalus surgery, including shunt device surgery in adults and non-hydrocephalus pediatric neurosurgery, and provide recommendations for minimizing infectious complications and strategies to prevent infections in these surgeries.

Ependymal ciliary motion and their role in congenital hydrocephalus.

PURPOSE: Since a case of hydrocephalus in humans considered to be caused by ciliary dysfunction was first reported by Greenstone et al. in 1984, numerous papers on the correlation between ciliary function and hydrocephalus have been published. METHODS: We reviewed the published literature on primary ciliary dyskinesia in humans causing hydrocephalus, focusing on articles specifically examining the relation between ciliary function and hydrocephalus and its treatment. In addition, the authors' experience is briefly discussed. RESULTS: Full texts of 16 articles reporting cases of human hydrocephalus (including ventriculomegaly) due to defects in ependymal ciliary function or primary ciliary dyskinesia observed in clinical practice were extracted. In recent years, studies on animal models, especially employing knockout mice, have revealed genetic mutations that cause hydrocephalus via ciliary dysfunction. However, a few reports on the onset of hydrocephalus in human patients with primary ciliary dyskinesia have confirmed that the incidence of this condition was extremely low compared to that in animal models. CONCLUSION: In humans, it is rare for hydrocephalus to develop solely because of abnormalities in the cilia, and it is highly likely that other factors are also involved along with ciliary dysfunction.

Robinow syndrome in a newborn presenting with hydrocephalus and craniosynostosis.

INTRODUCTION: Robinow syndrome is a rare entity with a characteristic appearance, such as hypertelorism, short stature, mesomelic shortening of the limbs, hypoplastic genitalia, and rib as well as vertebral anomalies. We had treated a patient with Robinow syndrome who developed hydrocephalus and craniosynostosis which is not usually associated. CASE PRESENTATION: The ventricle enlargement was detected during pregnancy in a female infant. She did not develop hydrocephalus just after birth. Her facial appearance was fetus-like, so the pediatricians had suspected Robinow syndrome. During follow-up examinations, a rapidly enlarging head circumference was detected when she was 3 months old. Her conscious level was not disturbed, but she had a tight fontanel and sunset phenomenon was recognized. Hydrocephalus was diagnosed by radiographic imaging so that she underwent ventriculo-peritoneal shunting (VPS). Her irregular head enlargement seized. Six months after surgery, her parents noticed the brachycephalic shape of her head. A computed tomography (CT) and magnetic resonance (MR) scan were conducted and showed that her bilateral coronal, bilateral lambdoid, and the sagittal suture were fused in addition with a tonsillar herniation. Since the sutures were not remaining, we diagnosed that this was a primary pan synostosis rather than secondary craniosynostosis due to VPS. Posterior cranial vault distraction with foramen magnum decompression (FMD) was conducted. The distractor was extended by 1 mm per day up to 30 mm. After a consolidation period of 2 months, the distractors were removed. Through this intervention, a 15.4% increase (+196cc) of the intracranial space with an improvement of the chronic tonsillar herniation was achieved. CONCLUSION: To confirm the diagnosis of Robinow syndrome, a genetic test was conducted. The analysis showed ROR2 Exon3 (c233 c>t p. Thr 78 Met), which is found in the recessive type of Robinow syndrome. We report this patient as, to our best knowledge, the first case documented case of Robinow disease presenting with hydrocephalus and craniosynostosis. Posterior cranial vault distraction with FMD is a useful way to treat this condition.

Differentiating comorbidities and predicting prognosis in idiopathic normal pressure hydrocephalus using cerebrospinal fluid biomarkers: a review.

Idiopathic normal pressure hydrocephalus (iNPH) is a condition resulting from impaired cerebrospinal fluid (CSF) absorption and excretion characterized by a triad of symptoms comprising dementia, gait disturbance (impaired trunk balance), and urinary incontinence. CSF biomarkers not only assist in diagnosis but are also important for analyzing the pathology and understanding appropriate treatment indications. As the neuropathological findings characteristic of iNPH have yet to be defined, there remains no method to diagnose iNPH with 100% sensitivity and specificity. Neurotoxic proteins are assumed to be involved in the neurological symptoms of iNPH, particularly the appearance of cognitive impairment. The symptoms of iNPH can be reversed by improving CSF turnover through shunting. However, early diagnosis is essential as once neurodegeneration has progressed, pathological changes become irreversible and symptom improvement is minimal, even after shunting. Combining a variety of diagnostic methods may lead to a more definitive diagnosis and accurate prediction of the prognosis following shunt treatment. Identifying comorbidities in iNPH using CSF biomarkers does not contraindicate shunting-based intervention, but does limit the improvement in symptoms it yields, and provides vital information for predicting post-treatment prognosis.

[Analysis of a Spontaneous Spinal Epidural Hematoma Mimicking Cerebral Infarction:A Case Report and Review of the Literatures].

Spontaneous spinal epidural hematoma is a rare disease, and the critical form may mimic cerebral infarction in the acute stage. Consequently, misdiagnosis of a cerebral infarction may result in unnecessary antithrombotic therapy. The present study investigated 19 cases of spontaneous spinal epidural hematoma first diagnosed as cerebral infarctions and treated with antithrombotic therapy. Of these, 16 cases(84.2%)presented with pain in the neck, shoulder, and back on admission, 19 cases(100%)with hemiplegia not including the face, 7 cases(36.8%)with limb sensory disturbance, and all 19 cases(100%)underwent MRI findings for definite diagnosis. After diagnosis, 6 of the 19 cases(31.6%)were treated with recombinant tissue-type plasminogen activator(rt-PA)administration, 13 cases(68.4%)with surgical treatment, and 9 cases(47.4%)were without after effect and showed good progress. MRI is effective in detecting spontaneous spinal epidural hematoma, however, CT is also used for this diagnosis. The most common site of spontaneous spinal epidural hematoma is the cervicothoracic spine junction or thoracolumbar spine junction, but occurrence in the upper cervical vertebra may present with hemiplegia similar to cerebral infarction. Pathognomonic symptoms include pain in the neck, shoulder, and back, however, symptoms such as hemiplegia not including the face, cervical spine, and cervical cord lesion may be important indicators. Although, some cases may not present with pain and sensory disturbance symptoms, therefore an initial misdiagnosis of cerebral infarction may be made and subsequent antithrombotic therapy can result in increased bleeding and serious after-effects. In particular, 4 of the 6 cases(66.7%)treated with hyperacute phase thrombolytic therapy(rt-PA treatment)in this study required surgical treatment, and the time until definite diagnosis was shorter compared with other antithrombotic agents, presumably due to the rapid increase in hematoma. Therefore, the possibility of spinal cord epidural hematoma should be considered before beginning rt-PA therapy with careful examination to confirm the presence of lesions in the cervical spine and cervical cord.

Spinal Dural Arteriovenous Fistula Assumed to be Symptomatic after Placement of Lumbar Cerebrospinal Fluid Drain.

A 69-year-old man presented with severe headache. Cranial computed tomography revealed diffuse subarachnoid hemorrhage. An anterior communicating artery aneurysm was identified and successfully obliterated by open microsurgery on the same day. Following placement of a continuous lumbar cerebrospinal fluid drain on hospitalization day 7, the patient developed a severe paraplegia and sensory loss below T6. Cerebral magnetic resonance imaging did not identify a responsible lesion. Spinal magnetic resonance imaging, however, showed extensive intramedullary hyperintensity on T2-weighted sequences. Spinal angiography identified a dural arteriovenous fistula fed by the segmental artery branching with the 12th intercostal artery. It was successfully embolized and the patient's sensorimotor disturbances remarkably improved. A spinal dural arteriovenous fistula may better be considered as one of the underlying etiologies when patients exhibit new neurological deficits after placement of a continuous lumbar cerebrospinal fluid drain.

Efficacy of Cranial Orthosis for Plagiocephaly Based on 2D and 3D Evaluation.

Background With the advent of cranial orthoses as therapeutic medical devices for the treatment of severe positional head deformities in Japan, an increasing number of patients are being treated with them. However, assessing the effectiveness of a treatment is often difficult due to the use of different metrics. This study aimed to evaluate the effectiveness of cranial orthoses for deformational plagiocephaly using two- (2D) and three-dimensional (3D) evaluation metrics. Methods We conducted a retrospective study of infant patients with deformational plagiocephaly who underwent cranial orthosis treatment. We evaluated the severity of deformational plagiocephaly using cranial asymmetry (CA) and the cranial vault asymmetry index (CVAI) as 2D metrics, and anterior and posterior symmetry ratios as 3D metrics. The patients were divided into 24 subgroups based on the initial severity of each outcome and their age at the start of treatment. We analyzed the changes in outcomes and correlations within improvements across the age and severity categories. Results Overall, 1,038 infants were included in this study. The mean CA, CVAI, and anterior and posterior symmetry ratios improved significantly after cranial orthosis treatment. The improvement in each score was greater in patients with more severe initial deformities and in those who underwent treatment at a younger age. Conclusion Cranial orthosis treatment was effective in correcting deformational plagiocephaly in infants, as demonstrated by improvements in both 2D and 3D metrics. Patients with more severe initial deformities and those who underwent treatment at a younger age showed greater improvement.

Surgery for intractable epilepsy after severe encephalopathy with reversible splenial lesion and new onset hippocampal lesion associated with parechovirus.

We describe a case of severe encephalopathy with reversible splenial lesion associated with parechovirus, followed by intractable temporal lobe epilepsy (TLE), which was improved by epilepsy surgery. A 3-year-old girl was admitted because of fever, consciousness disturbance and generalized tonic clonic seizure. Her seizure lasted for four hours. Fluid-attenuated inversion recovery (FLAIR) showed a hyperintensity in the splenium of the corpus callosum. Electroencephalogram (EEG) demonstarated continuous diffuse epileptic activity represented by synchronous and rhythmic high-amplitude spikes and waves, which led to the diagnosis of status epilepticus. Her consciousness was improved with fosphenytoin, midazolam and methylprednisolone pulse after 3 days. Seven days later, FLAIR hyperintensity in the splenium of the corpus callosum was disappeared; however, a hyperintensity in the right hippocampus was detected. Since the stool examination was positive for parechovirus, her final diagnosis was reversible splenial lesion syndrome (RESLES) associated with parechovirus. At age 8, she experienced epigastric sensation and consciousness disturbance once a week. Based on the scalp EEG and radiological findings, she was diagnosed with intractable right TLE. We performed a right selective amygdalohippocampectomy and anterior temporal disconnection at 10 years of age. One year and 3 months after surgery, she was seizure free. To our knowledge, this is the first report of severe febrile epilepticus status. with RESLES associated with parechovirus, followed by intractable TLE, which was resolved by epilepsy surgery.

Ptpn20 deletion in H-Tx rats enhances phosphorylation of the NKCC1 cotransporter in the choroid plexus: an evidence of genetic risk for hydrocephalus in an experimental study.

BACKGROUND: Congenital hydrocephalus occurs with some inheritable characteristics, but the mechanisms of its development remain poorly understood. Animal models provide the opportunity to identify potential genetic causes in this condition. The Hydrocephalus-Texas (H-Tx) rat strain is one of the most studied animal models for investigating the causative genetic alterations and analyzing downstream pathogenetic mechanisms of congenital hydrocephalus. METHODS: Comparative genomic hybridization (CGH) array on non-hydrocephalic and hydrocephalic H-Tx rats was used to identify causative genes of hydrocephalus. Targeted gene knockout mice were generated by CRISPR/Cas9 to study the role of this gene in hydrocephalus. RESULTS: CGH array revealed a copy number loss in chromosome 16p16 region in hydrocephalic H-Tx rats at 18 days gestation, encompassing the protein tyrosine phosphatase non-receptor type 20 (Ptpn20), a non-receptor tyrosine phosphatase, without change in most non-hydrocephalic H-Tx rats. Ptpn20-knockout (Ptpn20-/-) mice were generated and found to develop ventriculomegaly at 8 weeks. Furthermore, high expression of phosphorylated Na-K-Cl cotransporter 1 (pNKCC1) was identified in the choroid plexus (CP) epithelium of mice lacking Ptpn20 from 8 weeks until 72 weeks. CONCLUSIONS: This study determined the chromosomal location of the hydrocephalus-associated Ptpn20 gene in hydrocephalic H-Tx rats. The high level of pNKCC1 mediated by Ptpn20 deletion in CP epithelium may cause overproduction of cerebrospinal fluid and contribute to the formation of hydrocephalus in Ptpn20-/- mice. Ptpn20 may be a potential therapeutic target in the treatment of hydrocephalus.

Ossified extradural en-plaque meningioma of the cervical spine.

A 57-year-old woman sustained gradually progressive sensorimotor disturbance in the left upper extremity for one year. Neurological examination found a diminished sensation below the left C7 dermatome and reduced strength in the left interosseous muscles. Computed tomography of the cervical spine revealed a high density mass at C7, in the left dorsal part of the spinal canal. Magnetic resonance imaging found an enhancing, en-plaque tumor at C6-T1, involving a non-enhancing part, and considerable compression of the spinal cord. The patient underwent tumor resection through hemilaminectomy of C5-C7. The tumor was located epidurally, highly fibrous including bony-hard parts, and severely adhered to the dura mater that necessitated drilling for debulking. A subtotal resection was achieved and histological diagnosis was a fibrous meningioma with metaplastic ossification. Ossification may be a pathognomonic appearance of spinal extradural meningiomas that makes resection maneuvers difficult.