Arnold-Chiari Type Research Articles

Recurrent psychogenic paresis after dural puncture in a parturient

We describe the case of a 29-year-old parturient who, after undergoing elective cesarean delivery, displayed symptoms of lower extremity weakness and sensory deficit. Her past medical history was significant for asymptomatic Arnold Chiari Type I malformation and asthma. She had received spinal anesthesia that failed to achieve an adequate surgical level requiring conversion to general anesthesia. After tracheal extubation, she exhibited bilateral leg weakness that did not resolve over the next 4–6h. An urgent magnetic resonance imaging scan revealed a normal spine with no evidence of hematoma. The lower extremity paresis persisted and a neurologist diagnosed psychogenic paresis, a type of conversion disorder. Interestingly, the patient’s postoperative leg paresis was not her first occurrence of neurological dysfunction after dural puncture. At 27weeks of gestation, she had similar lower extremity symptoms after a lumbar puncture, performed to exclude meningitis for severe headache symptoms. Psychogenic paresis is not commonly reported in the medical literature and we found no reports of psychogenic paresis after spinal anesthesia in a parturient or recurrent psychogenic paresis. We review the various risk factors, etiology, neurological signs and symptoms, types, therapy and future management of a patient with recurrent conversion disorder.

Progressive pituitary hyperplasia over the course of 2 years demonstrated on magnetic resonance imaging in a patient with long standing, profound primary hypothyroidism

Pituitary hyperplasia secondary to primary hypothyroidism and subsequent regression following thyroid replacement has been well described. We report a 12 year-old male who was retrospectively found to have progressive pituitary hyperplasia over the course of 2 years prior to his diagnosis of primary hypothyroidism, as documented on annual brain magnetic resonance imaging (MRI) for Arnold Chiari Type 1 malformation. He presented to Endocrinology with a 2-year history of fatigue, worsening daily headaches and linear growth deceleration. The diagnosis of primary hypothyroidism as the cause for his pituitary hyperplasia was made. He was started on levothyroxine with subsequent regression of pituitary hyperplasia demonstrated on repeat brain MRI six months later. This case is the first that demonstrates progressive pituitary hyperplasia from early in the course to diagnosis of hypothyroidism. It also illustrates that pituitary hyperplasia noted on routine brain MRI can be a presenting sign of primary hypothyroidism that should prompt endocrinologic evaluation.

Combined Spinal-Epidural Analgesia for Laboring Parturient with Arnold-Chiari Type I Malformation: A Case Report and a Review of the Literature

Anesthetic management of laboring parturients with Arnold-Chiari type I malformation poses a difficult challenge for the anesthesiologist. The increase in intracranial pressure during uterine contractions, coughing, valsalva maneuvers, and expulsion of the fetus can be detrimental to the mother during the process of labor and delivery. No concrete evidence has implicated high cerebral spinal fluid pressure on maternal and fetal complications. The literature on the use of neuraxial techniques for managing parturients with Arnold-Chiari is extremely scarce. While most anesthesiologists advocate epidural analgesia for management of labor pain and spinal anesthesia for cesarean section, we are the first to report the use of combined spinal-epidural analgesia for managing labor pain in a pregnant woman with Arnold-Chiari type I malformation. Also, we have reviewed the literature and presented information from case reports and case series to support the safe usage of neuraxial techniques in these patients.

Potenciales evocados auditivos del tronco cerebral y somatosensoriales en los pacientes con malformación de Chiari

Chiari malformations (CM) include a series of congenital anomalies involving the descent of the cerebellar tonsils below the foramen magnum, which may be associated with compression in the brainstem, upper spinal cord, and cranial nerves, consequently altering the responses of brainstem auditory evoked potentials (BAEP) and somatosensory evoked potentials (SSEP). However, only a small number of authors have described the indications of these tests in CM, and study groups to date have been small and heterogeneous. To review the results of BAEPs and SSEPs in published studies of patients with Chiari type 1 malformation (CM-1) or Chiari type 2 malformation (CM-2) as well as the indications of both tests in the diagnosis, treatment, and monitoring of both diseases, especially CM-1. We present a review article analyzing data from all published studies in Medline starting in 1966, located through PubMed, using combinations of the following keywords: 'Chiari malformation', 'Arnold-Chiari malformation', 'Chiari type 1 malformation', 'Arnold-Chiari type 1 malformation', 'evoked potentials', 'brainstem auditory evoked potentials' and 'somatosensory evoked potentials' as well as records of patients with CM-1 from the neurosurgery and neurophysiology departments at the Hospital Universitari Vall d'Hebron. Common findings of SSEP are a reduction in cortical amplitude from the posterior tibial nerve, a reduction or absence of cervical median nerve potential, and an increased N13-N20 interval. In BAEP, the most frequent findings are an increased I-V interval and a peripheral or cochlear auditory disturbance.

Arnold Chiari I malformation with tip-toe gait: a case report.

The Arnold-Chiari type I malformation has many symptoms such as headache, neck pain, gait impairment, abnormal movements or postures. But a few cases reported association of specific symptom including headache, neck pain, vertigo or ataxia. We report a case of 12 year-old boy presenting with tip-toe gait. Magnetic resonance imaging (MRI) study of brain and spine revealed underlying Arnold-Chiari type I malformation. This case shows that it is need for central nervous system evaluation in patients with changes of lower extremities tone.

Vaginal Tubulovillous Adenoma

Vaginal villous or tubulovillous adenomas (TVA) are uncommon tumors histologically similar to their intestinal counterparts. After reviewing the literature, we report the eighth case of TVA, which presented as a polypoid tumor in the vagina, at suburethral level, in a 19-yr-old woman with Arnold-Chiari type II malformation and a myelomeningocele at birth. The tumor consisted of long villi lined by columnar cells with brush borders, pseudostratified nuclei, and foci of high-grade atypia. Immunohistochemistry was positive for cytokeratin 7, estrogen and progesterone receptors, CA19.9, p16, p53, and Ki-67 (53%), with a normal membranous pattern for β-catenin, but negative for cytokeratin 20, CDX2, carcinoembryonic antigen, chromogranin A, and synaptophysin. Neither human papillomavirus nor mutations in the K-RAS, BRAF, or LKB1/STK11 genes were detected. Although a rare neoplasm, awareness of this tumor is important as it must be distinguished from colonic adenocarcinoma or other malignant or benign conditions. The existence of 2 previously reported malignant cases merging with TVAs, and the presence of foci of high-grade dysplasia (p53-positive) in the present case, support TVA as a premalignant lesion.

Are intraspinal anomalies in early onset idiopathic scoliosis as common as once thought? A two centre United Kingdom study

Rates of neural axis abnormalities in infantile and juvenile idiopathic scoliosis may be as high as 50 %. We aimed to determine the rates of neural axis abnormalities in early onset idiopathic scoliosis patients in a British population. This retrospective study at two British spinal deformity clinics identified 72 patients satisfying the inclusion criteria of: (1) age at diagnosis of 7 years and younger, (2) idiopathic scoliosis and (3) magnetic resonance imaging of the neuraxis. The mean age at diagnosis was 3.6 years and the mean Cobb angle was 47° with a near equal distribution of left (32) and right (36) sided curves. Eight (11.1 %) neural axis abnormalities consisting of two syrinxes, one Arnold-chiari Type I malformation and five combined (Arnold-chiari malformation Type I and syrinx) anomalies were identified. This multi-centre study on the largest number of British subjects to date helps to establish the rates of neural axis abnormalities.

Anesthesia management for pregnant patient with Arnold-Chiari malformation type I: A case report

Arnold-Chiari I malformasyonu (ACM), serebellar tonsillerin asagiya, spinal kanala dogru herniyasyonu ile karakterize konjenital bir anomalidir. Anomali kendini, bas ve ekstremite agrilari, vertigo, hipoestezi, ekstremitelerde gucsuzluk gibi silik ve degisik belirtilerle gosterebilir. Tani genellikle guctur ve bundan dolayi gecikmistir. Bu hastalarda intrakranial basinc onemli olup basincin korunmasi yonunde tedbir alinmalidir. Bu olgu sunumunda acil sezeryan operasyonu planlanan Arnold-Chiari I malformasyonlu gebede anestezi yonetimini tartistik.

Difficult intubation in a parturient with syringomyelia and Arnold-Chiari malformation: Use of Airtraq™ laryngoscope

Anesthetic technique in parturient with syringomyelia and Arnold–Chiari malformation is variable depending on the teams. Difficult intubation is one of the risks when general anesthesia is opted. Different devices have been used to manage the difficult intubation in pregnant women. We report the use of Airtraq™ laryngoscope after failed standard laryngoscopy in a parturient with syringomyelia and Arnold–Chiari type I malformation.

Osteopathic management of an adult patient suffering from trigeminal neuralgia after a post-operative Arnold Chiari type 1 decompression: Case report

Osteopathic management of an adult patient suffering from trigeminal neuralgia after a post-operative Arnold Chiari type 1 decompression: Case report

A Rare Case of Hypertension

A 61-year-old female was referred to our hypertension centre for uncontrolled hypertension. She had been previously diagnosed with type 2 diabetes mellitus and impaired serum lipid profile. At admission, she assumed β-adrenoceptor antagonists (β-blockers) and calcium antagonists; she had uncontrolled blood pressure levels and she presented with a recent episode of headache associated with syncope and showed negative cerebral CT. Examinations performed in our hypertension outpatient clinic (physical examination, blood biochemistry, instrumental diagnosis and screening for secondary hypertension) had negative outcomes. Average blood pressure on three different determinations was above the normal values. A modification in antihypertensive therapy was performed with no results. During a follow-up visit, the patient lost consciousness. She was promptly transferred to the Cardiac Intensive Care Unit. During the following diagnostic iter (cerebral CT and urinary catecholamine levels based on a 24-hour sample), cerebral MRI evidenced malformation of Arnold Chiari type I. The neurological surgery consultant advised surgical procedure with occipital decompression technique. One year later the patient underwent surgical intervention. The patient actually reports suboptimal control of blood pressure. To date, no episode of transitory coma has occurred.

In this issue

Swarr et al (p. 565) offer several new findings about Potocki-Shaffer syndrome (PSS), a contiguous gene syndrome associated with deletions in 11p11.2. PSS is marked by openings in the two bones that form the top and sides of the skull, multiple benign bone tumors called exostoses, intellectual disability, delayed development, a distinctive facial appearance, and problems with vision. In this study, researchers identified and evaluated six patients with PSS according to a protocol that included assessments by practitioners of several medical specialties and various diagnostic studies. The researchers also used array comparative genomic hybridization to further characterize the deletion in five patients. The researchers newly identified an association of PSS syndrome with sensorineural hearing loss and autistic behaviors. The study data also highlight the characteristic facial features, biparietal foramina, moderate-to-severe developmental delay and intellectual disability, myopia and strabismus, and multiple exostoses already seen with this disorder. Based on these findings and a review of the 31 previously reported cases of PSS, the researchers made recommendations for the care of children with the syndrome. These include referral to early childhood intervention and a developmental-behavioral specialist at the time of diagnosis, a full skeletal survey at diagnosis or by age three, and screening for strabismus and nystagmus by primary care providers at every well-child examination, with referral to a pediatric ophthalmologist at diagnosis or by age six months. The researchers also suggest that infants with PSS be evaluated for sensorineural hearing loss by three months of age and get a behavioral audiogram at age one year and annually thereafter. Parents of children with PSS should get fluorescence in situ hybridization (FISH) studies to find chromosomal rearrangements that would increase risk of PSS in future offspring, researchers write. Castori et al (p. 556) describe the natural history and various manifestations of hypermobility type Ehlers-Danlos syndrome (HT-EDS). A relatively frequent but commonly misdiagnosed variant of Ehlers-Danlos syndrome, HT-EDS is characterized mainly by marked joint instability and mild cutaneous involvement, while additional manifestations include chronic pain, asthenia, and gastrointestinal and pelvic dysfunction. The researchers report on 21 patients selected from a group of 40 subjects with suspected mild hereditary connective tissue disorder. They outline six distinct clinical presentations in a tabulation the authors describe as mnemonic for clinical geneticists attempting to accurately diagnose this condition. HT-EDS's natural history includes three phases—hypermobility, pain, and stiffness—which the researchers delineate based on distinguishing manifestations.1 Main manifestations of Ehlers-Danlos syndrome hypermobility type. Joint hypermobility (e-i): hyperextension of the thumb in passive apposition to the flexor aspect of the forearm (e), hyperextension of the elbow (f) and knee (g) beyond 10°, forward flexion of the trunk with the knees extended and the palms resting flat on the floor (h), and hyperextension of the mecarpophalangeal joint of the V finger in passive dorsiflexion beyond 90° (i). They also identify a group of additional, apparently uncommon abnormalities associated with HT-EDS. These include dolichocolon, dysphonia, and Arnold-Chiari type I malformation. Further investigation of these abnormalities may contribute to an understanding of the pathogenesis of the protean manifestations of HT-EDS and lead to more effective evaluation and management of affected individuals, according to researchers. FOXE3 mutations represent an important cause of nonsyndromic autosomal recessive bilateral microphthalmia, write Reis et al (p. 582).1 Patient photographs. B: Patient 1 with prosthetics removed demonstrating bilateral severe microphthalmia. Because autosomal dominant and recessive mutations in FOXE3 among humans have been associated with variable phenotypes, including anterior segment anomalies, cataracts, and microphthalmia, the researchers sequenced FOXE3 in 116 probands. The spectrum of ocular defects in these probands ranged from anterior segment dysgenesis and cataract to anophthalmia/microphthalmia. The researchers found recessive FOXE3 mutations in four of 26 probands affected with bilateral microphthalmia, representing 15% of all bilateral microphthalmia and 100% of consanguineous families with this phenotype. FOXE3-positive microphthalmia was accompanied by aphakia and/or corneal defects. The researchers identified missense variants at varying frequencies in patient and control groups. Because some of these variants appear to be race-specific, the researchers emphasized the importance of using race/ethnicity-matched control populations in evaluating the relevance of genetic screening results.

Natural history and manifestations of the hypermobility type Ehlers–Danlos syndrome: A pilot study on 21 patients

Hypermobility type Ehlers-Danlos syndrome (HT-EDS) is a relatively frequent, although commonly misdiagnosed variant of Ehlers-Danlos syndrome, mainly characterized by marked joint instability and mild cutaneous involvement. Chronic pain, asthenia, and gastrointestinal and pelvic dysfunction are characteristic additional manifestations. We report on 21 HT-EDS patients selected from a group of 40 subjects with suspected mild hereditary connective tissue disorder. General, mucocutaneous, musculoskeletal, cardiovascular, neurologic, gastrointestinal, urogynecological, and ear-nose-throat abnormalities are investigated systematically and tabulated. Six distinct clinical presentations of HT-EDS are outlined, whose tabulation is a mnemonic for the practicing clinical geneticist in an attempt to diagnose this condition accurately. With detailed clinical records and phenotype comparison among patients of different ages, the natural history of the disorder is defined. Three phases (namely, hypermobility, pain, and stiffness) are delineated based on distinguishing manifestations. A constellation of additional, apparently uncommon abnormalities is also identified, including dolichocolon, dysphonia, and Arnold-Chiari type I malformation. Their further investigation may contribute to an understanding of the pathogenesis of the protean manifestations of HT-EDS, and a more effective approach to the evaluation and management of affected individuals.

A 12-hour-old Girl with Multiple Congenital Anomalies

A 12-hour-old, 39-week gestation female was born on the day of admission via spontaneous vaginal delivery to a gravida 7 para 5 36-year-old mother. The baby had a prenatal diagnosis of multiple congenital anomalies, including ventriculomegaly, myelomeningocele, congenital diaphragmatic hernia, and a ventricular septal defect. Ultrasonography performed at 22 weeks showed an open neural tube defect with Arnold-Chiari type II malformation, left renal pyelectasis, left diaphragmatic hernia, and a ventricular septal defect. The parents received extensive prenatal counseling and were aware of potential diagnoses. The family declined amniocentesis; the pregnancy was otherwise unremarkable. The amniotic fluid was meconium stained. The baby was intubated, and the ruptured myelomeningocele was wrapped in warm saline-soaked pads. There were no reported spontaneous leg movements.

Arnold-Chiari Type II Malformation: A Case Report and Review of Prenatal Sonographic Findings

The Arnold-Chiari malformation is a congenital abnormality of CNS, characterized by downward displacement the parts of the cerebellum, fourth ventricle, pons and medulla oblongata into the spinal canal. This malformation is one of causative factor of death in neonates and infants. A thorough understanding of the direct and indirect sonographic findings is necessary for diagnosis of Chiari II malformation in the developing fetus. In this case report, we present a Chiari malformation II detected at 23 weeks of gestation by routinely sonographic screening. The Role of prenatal sonography in recognition of the malformation and prognostic value of these features are discussed.

Trigeminal Neuralgia as the Sole Manifestation of an Arnold‐Chiari Type I Malformation: Case Report

Arnold-Chiari type I malformations usually manifest clinically with short-lasting headaches typically involving the occipital-nuchal region and precipitated by the Valsalva maneuver, coughing, sudden postural change, or physical exertion. We describe the case of an adult patient who presented with symptomatic trigeminal neuralgia caused by an Arnold-Chiari type I malformation. Unlike previous cases, the malformation involved the trigeminal ophthalmic division alone.

Surgical treatment of Arnold-Chiari malformation type I in an adult patient

Herniation of the cerebellar tonsils through the foramen magnum into the cervical spinal canal with obliteration of the cerebellomedullary cistern is the primary feature of Arnold-Chiari type I malformation (ACM I). It is considered to be congenital malformation, although there have been reported cases of an acquired form. We presented a female patient, 45-year old, with ACM I without syringomyelia as a rare and unusual clinical image, as well as the effect of decompressive surgery in the treatment of this malformation. The patient was admitted to the Department of Neurosurgery with clinical signs of truncal ataxia worsening during the last six years. Moderate quadriparesis with predominant lower extremity involvement and the signs of the cranial nerves damages occured during the last seven months before admission, with progressive clinical course up to the date of admission. Neurosurgical treatment that included suboccipital medial craniectomy with resection of posterior arch C1 vertebrae and C2 laminectomy resulted in a significant clinical improvement and a much better quality of life. Posterior craniovertebral decompression with microsurgical reduction of the cerebellar tonsils and placement of an artificial dural graft is a treatment of choice in severe forms of ACM I without syringomyelia.

Isolated unilateral hypoglossal nerve paralysis following open septoplasty

We describe a patient with postoperative unilateral hypoglossal nerve paralysis after an uncomplicated intubation. Postoperative evaluation showed that he had an Arnold Chiari type 1 malformation. The paralysis resolved completely by the second postoperative month.

Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism

The most frequent cause of ventriculomegaly is spina bifida when associated with Arnold-Chiari type II malformation. We report on a prenatal diagnosis of severe ventriculomegaly in association with spinal dysraphism that was indicative of a Currarino syndrome (CS) due to a c.584delA, p.H195fsX28 truncated mutation within the HLXB9 gene. Physiopathology of the ventriculomegaly is discussed in reference to the fetopathological examination and CS embryopathology. In the present case, prognosis was poor and pregnancy termination was authorized. However, such a decision may be controversial in fetuses with less severe malformations on sonographic examination, since mutations in the HLXB9 gene can predict neither the severity nor the long-term prognosis of the disease. Due to a lack of genotype-phenotype correlation and the broad variability of phenotype in heterozygotes, clinical and genetic investigations among relatives are mandatory in all HLXB9 gene mutation cases, to detect asymptomatic CS cases and to prevent the occurrence of severe complications.

Arnold-Chiari type I malformation presenting as benign paroxysmal positional vertigo in an adult patient

Arnold-Chiari malformations are a group of congenital hindbrain and spinal cord abnormalities characterized by herniation of the contents of the posterior cranial fossa caudally through the foramen magnum into the upper cervical spine. It is important to recognize Arnold-Chiari type I malformation in the differential diagnosis of adult vertigo cases. We present a 51-year-old patient with Arnold-Chiari type I malformation that was initially diagnosed as posterior semicircular canal benign paroxysmal positional vertigo.