Iatrogenic (Traumatic) Occipital Artery Pseudoaneurysm - Rare Complication of Ventriculoperitoneal Shunt in an Infant: Case Report and Review of the Literature.

Although ventriculoperitoneal shunt (VPS) is the most common procedure performed by pediatric neurosurgeons, it is still associated with frustrating complications, most common of which are obstruction and infection. Traumatic occipital artery pseudoaneurysm is a very rare complication of VPS procedure. To the best of our knowledge, there is no similar case reported in the English language literature. A 12-month-old patient suffered posthemorrhagic hydrocephalus of prematurity, and multiple other complications due to extreme prematurity, including immature lung disease, retinopathy of prematurity, necrotizing enterocolitis, bowel perforation, short bowel syndrome resulting in total parenteral nutrition-dependence, and hydrocephalus which was treated by insertion of VPS. Four weeks after the shunt, a slowly enlarging pulsatile swelling distal to the valve under the catheter altering the shunt function was noted. The swelling was diagnosed as a pseudoaneurysm of the occipital artery and treated by excision of the aneurysm. The child developed isolated dilated fourth ventricle, which was treated by endoscopic fourth ventriculostomy. Traumatic occipital artery pseudoaneurysm as a result of tunneling of VPS catheter is a very rare complication of VPS. Clinical and radiological imaging is diagnostic of the aneurysm. Surgical repair should be considered in such cases. This case report is aimed to raise the awareness among physicians about this rare complication.

Granulomatous hypophysitis: rare disease with challenging diagnosis.

Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma. Diagnosis is only confirmed by histopathology examination. Trans-sphenoidal surgery is considered diagnostic when descent tissue specimen is obtained and therapeutic by decompressing optic pathway and the sella. Pathological findings always reveal granulomatous areas, multinucleated giant cells, plasma cells, and lymphocytes.

Large primary leiomyoma causing progressive cervical deformity.

Leiomyomas are benign smooth tumors that rarely affect the neck area. Complete surgical resection is the treatment of choice. Here, we describe a 13-year-old girl with a large leiomyoma of the neck, which increased in size after incomplete resection. The tumor caused progressive cervical kyphotic deformity, difficulty breathing and severe malnourishment. The tumor was resected successfully in a second surgery, and the patient is stable after 3 years of follow-up. Histopathologically, the tumor was consistent with leiomyoma and showed strong reactivity to specific smooth muscle markers, such as desmin and caldesmon. This is the second reported case demonstrating massive growth of a leiomyoma, with emphasis on complete resection from the beginning.

Split cord malformation associated with spinal open neural tube defect.

OBJECTIVE: To illustrate the clinical and radiological findings of split cord malformation (SCM) in patients with spinal open neural tube defect (SONTD), and report the outcome of their treatment. METHODS: A retrospective study of the clinical and radiological findings of 11 patients diagnosed with SCM, identified among 83 patients with SONTD at King Khalid University Hospital, in Riyadh, Saudi Arabia between 1995 and 2010. RESULTS: There were 6 girls and 5 boys; their age ranged from less than a year to 9 years (mean 4.2 years). Six patients had type I SCM, and 5 patients type II SCM. The CT and MRI imaging showed characteristic bony, cartilaginous, or fibrous septum, and other SONTD-associated anomalies. Seven patients were graded A & B according to the Frankel grading score, and none of them required surgery, while worsening neurology led to surgical intervention in 3 patients, with clinical improvement after surgery, and one patient that underwent cord untethering remained stable. CONCLUSION: Split cord malformation is not uncommon among patients with SONTD. It tends to involve mainly the lumbar spine, and female predominance is more remarkable in type I. Neurological manifestations of SCM may be superimposed with SONTD. Surgery is effective for symptomatic patients, and not indicated in the severely disabled.

Agenesis of the corpus callosum associated with spinal open neural tube defect.

OBJECTIVE: To ascertain the incidence and clinical implications of agenesis of the corpus callosum (ACC) in spinal open neural tube defects (SONTD). METHODS: All cases of SONTD registered at the Spina Bifida Clinic in King Khalid University Hospital, Riyadh, Saudi Arabia between 1995 and 2010 were retrospectively reviewed, and mid-sagittal MRI of the corpus callosum (CC) area was analyzed in each case. Neurodevelopmental outcome was classified as poor in children with seizures, severe neurodevelopmental impairment, or death. RESULTS: Thirty-eight patients (45.8%) with ACC were identified among 83 cases with SONTD. Patients' age ranged between one and 16 years. Total ACC was found in 10 patients, partial ACC in 25, and in 3 patients, the CC was hypoplastic. Active hydrocephalus was an associated finding in 9 out of 10 patients with total ACC, 22 out of 25 with partial ACC, and in all patients with hypoplasia of the CC. Thirteen patients (34.2%) had normal intellectual function, whereas 24 patients presented with learning disability, epilepsy, or poor intellectual function; and one patient died of respiratory failure. CONCLUSION: Agenesis of the corpus callosum is found in a significant portion of patients with SONTD. When associated with hydrocephalus, its presence affects neuro-developmental outcome.

Epidemiology of neural tube defects in Saudi Arabia.

OBJECTIVE: To evaluate the distribution and pattern of neural tube defects in Saudi Arabia by creating a hospital based registry. METHODS: All cases registered in the King Faisal Specialist Hospital and Research Center (KFSH&RC) neural tube defect (NTD) registry since it was established in October 2000 until December 2012 were studied through active surveillance comprising a registrar who collects NTD information by reviewing the patient's medical records, and interviewing patient's families. RESULTS: The total number of patients registered from October 2000 to December 2012 was 718 patients. There were more females (417, 58%) than males (301, 42%). Of 620 mothers who underwent antenatal ultrasonography; 392 (63%) were diagnosed at birth, and 204 (33%) were diagnosed with antenatal hydrocephalus. In our registry sample, most mothers (95%) did not take folic acid 3 months prior to pregnancy, and 76% did not take folic acid during the 3 months after conception with the affected child. Only 5% received folic acid prior to conception. CONCLUSION: The KFSH&RC-NTD registry has met its objectives as a source of data that may significantly contribute to the prevention of NTDs, and improving quality of care for NTD patients through active publication of registry findings and management approaches.

Sleep-disordered breathing in children with craniosynostosis.

BACKGROUND: Syndromic craniosynostosis (SC) is associated with a high prevalence of sleep-disordered breathing (SDB). However, it remains unclear whether non-syndromic craniosynostosis (NSC) is associated with an increased risk for SDB. SETTING: This study was conducted at a tertiary referral pediatric medical center. METHODS: A prospective polysomnographic (PSG) evaluation was conducted of all children diagnosed with craniosynostosis over a 3-year period and who had not undergone previous PSG for SDB-related symptoms. RESULTS: Among 14 children fulfilling inclusion criteria, 10 had NSC and 4 were diagnosed with SC (Crouzon syndrome). SDB was present in 50 % of the NSC and in 75 % of SC. No associations emerged between the number of sutures affected and the presence of SDB. CONCLUSIONS: SDB is highly prevalent not only in SC but also among asymptomatic children with NSC. The diagnosis of NSC should prompt a diagnostic PSG as a routine component of the clinical evaluation, and PSG findings may aid in the formulation of decisions regarding timing and need for surgical interventions.

Natural history of hydrocephalus in children with spinal open neural tube defect.

BACKGROUND: The long-term prognosis of patients with Spinal Open Neural Tube Defect (SONTD)-associated hydrocephalus is not well known. This study was conducted to ascertain the incidence and natural history of hydrocephalus in patients with SONTD. METHODS: All 82 patients with SONTD referred to Neurosurgery/Spina Bifida Clinics at King Khalid University Hospital, Riyadh, Saudi Arabia (January 1995 - July 2010) were studied and followed for a period of 1-16 years. Patients were divided into three groups: Group "A" with active hydrocephalus treated with ventriculoperitoneal shunt (VPS), or endoscopic third ventriculostomy (ETV); Group "B" with compensated hydrocephalus; and Group "C" with no hydrocephalus. Timing of shunt insertion, complications of treatment and status of hydrocephalus were analyzed. RESULTS: The mean age of the 82 patients was 7.4 years (range 1-16 years). Group "A" included 59 (72%) patients, Group "B" 7 (8.5%) patients, and Group "C" 16 (19.5%) patients. Chiari malformation type II was found in 71 (86.6%) patients, 57 of whom (80%) were in Group "A" with active hydrocephalus. They were treated by VPS (51 patients) and ETV (8 patients). The shunts were revised or replaced in 10 (19.6%) patients due to obstruction or infection. Primary ETV failed in 3/8 patients, and treated by VPS. None of those in Groups "B" or "C" required treatment for hydrocephalus during the follow up. CONCLUSION: Hydrocephalus affects the majority of patients with SONTD who have Myelomeningocele (MMC) and CM II and requires close surveillance and prompt management. Children with SONTD should routinely undergo MRI examination of brain and craniocervical junction to clarify ventricular size, and the presence of CM II.

Extradural dermoid cyst of mastoid bone: a case report.

Dermoid cysts of the head and neck are rare congenital benign tumors. According to the literature they represent about seven percent of all dermoids and less than one percent of all intracranial neoplasms. Extradural dermoid cysts are very rare. We report a case of intracranial extradural dermoid cyst of mastoid bone. We believe that this is the second documented extradural dermoid cyst, the first case reported in the literature (Ammirati et al., 2007) was in close relation to the petrous apex but ours is in close relation to mastoid antrum. Hearing loss was the only clinical presentation in this case, while neurological symptoms were the main presenting symptoms in the first reported case. We present our management of this rare case with respect to the clinical, radiological, histopathological, and surgical aspects and conclude that dermoid tumors, though rare, need to be included in differential diagnosis of middle ear lesions.

Sleep-disordered breathing in children with Chiari malformation type II and myelomeningocele.

BACKGROUND: The prevalence of sleep-disordered breathing (SDB) in children with Chiari malformation type II (CM-II), a known association of neural tube defects (NTD), has not been well documented. The aim of the present study was to assess the prevalence and possible predictive factors of SDB in patients with CM-II. METHODS: The study included all patients with documented CM-II who were routinely referred from the Neurosurgery Clinic to the University Sleep Disorders Centre at King Khalid University Hospital, Riyadh, Saudi Arabia, between January 2002 and July 2009. Overnight full polysomnography (PSG) was performed in all patients. Polysomnographic data were analyzed using descriptive statistics. RESULTS: Sixteen children (11 boys, five girls) were included in the study; their mean age was 4.7 years (range, 0.8-10 years) and their mean body mass index was 18.05 kg/m(2) (range, 15.4-25.4 kg/m(2) ). For the whole group, the mean apnea-hypopnea index (AHI) was 6.3/h (range, 0.2-24.5/h), with AHI recorded as >5/h in five patients (31.3%) and ≥ 10/h in three patients (18.8%). The mean central apnea-hypopnea index was 5.9/h (range, 0-24.5/h) and the mean obstructive apnea-hypopnea index was 0.4/h (range, 0-2.9/h). The mean arousal index was 15.1/h (range, 5-34/h). CONCLUSION: The major assumption linking CM-II and NTD with potential brainstem compression and respiratory dysfunction during sleep was confirmed. Indeed, SDB is highly prevalent, and clearly underreported and undertreated in patients with CM-II associated with NTD.

Acute respiratory failure after endoscopic third ventriculostomy: A case report and review of the literature.

Endoscopic third ventriculostomy (ETV) is a relatively safe procedure. However, postoperative acute respiratory failure may be fatal. The authors report an 8-month-old patient with obstructive hydrocephalus secondary to posterior fossa cyst, and Chiari malformation. After ETV he developed difficulty in breathing, and had to be reintubated and ventilated. The infant recovered fully after craniocervical decompression and insertion of cystoperitoneal shunt. We speculate that respiratory failure is related to relative expansion of the posterior fossa arachnoid cyst, causing significant compression on the brain stem. Supportive care with mechanical ventilation and brain stem decompression were the mainstay of treatment.

Endoscopic third ventriculostomy for hydrocephalus in children younger than 1 year of age.

OBJECTIVE: The purpose of this study is to assess the role of endoscopic third ventriculostomy (ETV) in the treatment of hydrocephalus in children under 1 year of age. The authors analyzed data of ETV in their institution. METHODS: Between January 1995 and December 2008, 52 ETV procedures were performed for the treatment of hydrocephalus in 49 infants (32 male and 17 female). Their age ranged from 6 days to just under 12 months (mean age 6.2 months). The cause of hydrocephalus was occlusive in 43 patients (aqueduct stenosis in 31, Chiari II malformation in eight, Dandy-Walker cyst in two, quadrigeminal lipoma in one, and cerebellopontine angle arachnoid cyst in one patient). Communicating hydrocephalus was caused by intraventricular hemorrhage, meningitis, and/or ventriculitis in six patients. RESULTS: The overall success rate was 69.4% with mean follow-up period of 68.2 months. Patients with aqueduct stenosis had a higher success rate of ETV which was 77.4%. Seven infants were born preterm, six of them required a permanent ventriculoperitoneal shunts (VPS; P = 0.003). Malfunctioned VPS was removed in two patients following ETV. There was one death from intracranial hemorrhage, two cerebrospinal fluid leaks, and one meningitis. CONCLUSION: Endoscopic third ventriculostomy can be considered a possible treatment procedure alternative to VPS for the treatment of occlusive hydrocephalus in infants. ETV was effective in full-term infants while the results in low birth weight, preterm infants were poor. Success of ETV is not only age dependent but also etiology dependent. Infants with occlusive hydrocephalus treated with VPS, who present with shunt failure, could be treated by ETV and removal of the shunt device.

Spinal cord injury without radiological abnormality (SCIWORA). A diagnosis that is missed in unconscious children.

Spinal cord injury without radiographic abnormality (SCIWORA) usually occurs in the hypermobile, immature cervical spine of young children. In a comatose child, a normal spine x-ray, and CT scan exclude most cases of gross fracture and dislocation, but not SCIWORA. We present 2 children that sustained a polytrauma, which rendered each of them unconscious at the outset. In both, cervical spine x-ray excluded bony injuries, however, CT scan raised the suspicious of spinal cord injury in one, and MRI demonstrated significant cord injury in both. The first patient died from severe head and cervical spinal cord injury. The second patient recovered with mild Brown-Sequard syndrome. A high index of suspicious of SCIWORA is necessary in injured comatose children in whom movement of all limbs is not seen. Therefore, spine MRI should be considered if they are expected to remain ventilated for an unknown time.

Moyamoya syndrome as a risk factor for stroke in Saudi children. Novel and usual associations.

OBJECTIVE: To report on moyamoya syndrome (MMS) as a risk factor for stroke in a prospective and retrospective cohort of Saudi children. The usual and novel associations of MMS in this cohort will also be described. METHODS: Children with stroke were evaluated at the Division of Pediatric Neurology at King Khalid University Hospital, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia during the periods July 1992 to February 2001 (retrospective study) and February 2001 to March 2003 (prospective study). Investigations for suspected cases included hemostatic assays, biochemical, and serological tests. Neuroimaging included CT, MRI, magnetic resonance angiography (MRA), single photon computerized tomography (SPECT) brain scan and conventional cerebral angiography. RESULTS: Moyamoya syndrome was the underlying risk factor for stroke in 6 (5.8%) of the 104 children (aged one month to 12 years). They were 4 females and 2 males. Their first cerebral ischemic event occurred at a mean age of 45 months (median = 44 months, range 17-66 months). In all 6 cases, MMS was associated with an underlying hematologic abnormality or other diseases. Protein C deficiency was identified in one girl and protein S deficiency in another. Two patients had respectively, sickle cell disease (SCD) and sickle cell-beta-thalassemia (S beta-thalassemia), which had been associated in the latter with membranous ventricular septal defect. Adams-Oliver syndrome (AOS, OMIM 100300) was associated with MMS in an 18-month-old girl. A 4-year-old boy had wrinkly skin syndrome (WSS, OMIM 278250) phenotype. The association of MMS and protein C deficiency was first reported in this cohort of patients, whereas the association of the syndrome with WWS and AOS has not, hitherto, been described. The 3 patients who had MMS associated with protein C deficiency, SCD, and AOS underwent successful revascularization surgery in the form of encephaloduroarteriosynangiosis. CONCLUSIONS: Moyamoya syndrome constitutes an important risk factor of stroke in Saudi children. Comprehensive clinical evaluation and investigations, including screening for thrombophilia and neuroimaging studies, are required for the primary diagnosis of the disease and for unraveling other diseases associated with MMS. This will help in managing these patients and in guiding genetic counseling for their families.

Sudden death in children due to intracranial mass lesion.

STUDY OBJECTIVE: Intracranial causes of sudden and unexpected death in children are uncommon and are usually due to trauma, epilepsy or to catastrophic haemorrhage associated with neoplasms or vascular malformations. We sought to review the presenting symptoms and signs of intracranial mass lesions that led to sudden death to guide clinicians in early identification of these potentially treatable conditions. METHODS: All cases of sudden unexpected death attributed to intracranial mass lesion that occurred from 1996 to 2002 at the Oxford Radcliffe Hospitals, NHS Trust, were reviewed. RESULTS: During the study period, six children, aged between 10 weeks and 12 years, died suddenly with intracranial mass lesions other than haematomas. All of them were unsuspected of having a neurological disease prior to death. All patients were found to have an intracranial mass lesion. There were colloid cyst (n=2), glioblastoma multiform (n=1), primitive neuro-ectodermal tumour (n=1), pyogenic abscess (n=1) and histologically unverified tumour (n=1). Presenting features included headache and vomiting in four cases, vomiting longer than 1 week in three and lethargy in four cases. Three patients were misdiagnosed with viral illness. CONCLUSION: The case series highlights a life-threatening but misleading presentation of intracranial mass lesions. The diagnosis of viral illness should be made cautiously when headache and vomiting occur in the absence of focal complaints. A history of vomiting exceeding a few days duration warrants further investigation. Persistent lethargy should be considered a neurological rather than a non-specific clinical sign.

Fatal haemorrhage in medulloblastoma following ventricular drainage. Case report and review of the literature.

Haemorrhage in medulloblastoma is reported to be very rare. The authors report a case of a 13-year-old boy who presented with headache, unsteadiness, diplopia and papilloedema due to posterior fossa medulloblastoma causing obstructive hydrocephalus. Six hours following placement of an external ventricular drain, he suddenly became comatose with respiratory arrest. The cause was marked upward herniation of the anterior vermis and downward herniation of the cerebellar tonsils due to massive spontaneous intratumoural haemorrhage extended into the ventricular system. This atypical clinical course of fatal haemorrhage in medulloblastoma after insertion of external ventricular drainage is reported and the literature discussed.

Fluid-fluid level in Langerhans cell histiocytosis of the skull.

We present a case of solitary eosinophilic granuloma in the skull of a 6-year-old Saudi boy. This osteolytic lesion has fluid-fluid level on CT and MRI. We are presenting a rare radiological finding of eosinophilic granuloma.

Hemifacial spasm caused by pontine glioma: case report and review of the literature.

Hemifacial spasm (HFS) is an involuntary paroxysmal contractions of the facial musculature, caused generally by vascular compression of the seventh cranial nerve at its root exit zone from the brain stem. The case of an adult man harbouring brain stem glioma (BSG) whose only neurological signs were left HFS and mild facial weakness is reported. Radiological and neurophysiological findings are described. No responsible vessel could be identified during surgery, but the causative lesion was found to be an astrocytic tumour encasing the facial nerve at its root exit zone from the brain stem. The rarity of such a condition prompted us to review the literature. Nine cases, including our patient presenting with HFS caused by BSG, are reviewed.

Complete recovery of severe quadriparesis caused by stab wound at the craniocervical junction.

Non-missile penetrating spinal cord injuries are uncommon, and involvement of the craniocervical junction is even less frequent. The author reports a case of 42-year-old male who presented with quadriparesis immediately following stab injury inflicted with a kitchen knife to the back of his neck. The knife was retained in the patient's neck. Neurological examination revealed spastic paraplegia and severe weakness of the left upper limb and the right-hand grip, and sensory disturbance from C2 and downwards. In addition to these symptoms, cerebrospinal fluid (CSF) was leaking from the wound. Computerised tomography (CT) scan showed the blade passed through the spinal canal and its tip reached the odontoid peg. After retrieval of the knife, his quadriparesis recovered. The management and outcome of the patient are described.