Chiari I malformation and intra-cranial hypertension:a case-based review

OBJECTIVE: To present clinical and morphological findings before and after surgery in a child with Chairi I malformation (CMI) and intra-cranial hypertension (IH). The literature is reviewed and pathophysiologic factors are discussed. CLINICAL PRESENTATION: A 13-year-old obese boy with a 3-week history of headaches, neck pain, torticollis and progressive visual deterioration was admitted. Bi-lateral chronic papilloedema and decrease in visual acuity were found in the presence of a previously diagnosed CMI. INTERVENTION AND FOLLOW-UP: Intra-cranial pressure monitoring demonstrating increased pressure levels was followed by a sub-occipital decompression, C1 laminectomy and duroplasty. Post-operatively, the boy improved markedly, the 6 months follow-up opthalmological examination demonstrated resolution of papilloedema, but consecutive bi-lateral optic nerve atrophy. CONCLUSION: IH with progressive visual deterioration represents one of the varying clinical presentations of CMI and may be classified as a secondary form of idiopathic IH. Neuro-ophthalmological examination in all patients with CMI is recommended to identify the real incidence of this presentation. Altered CSF dynamics, venous hypertension and obesity as co-factors may be causative pathophysiologic factors.     

Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update

Background  

Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is a newly described condition characterized by macrocephaly (megalencephaly), cutis marmorata telangiectatica congenita, macrosomia and/or asymmetric growth, central nervous system abnormalities and neurological manifestations.     

Association between restless legs syndrome and Chiari type 1 malformation

Chiari type 1 malformations (CM-1) consist of the downward displacement of the cerebellar tonsils out of the inferior opening of the skull and into the spinal canal. In relation to this, a few studies in the literature have drawn attention to the possible role of the upper brainstem, diencephalon, red nucleus, and cerebellum in the pathogenesis of restless legs syndrome (RLS). Herein, we present five cases of RLS who were also found to have CM-1 malformations. The cases were notable for an early onset of RLS and a poor response to dopaminergic treatment. The patients fulfilled the diagnostic criteria for RLS according to the International RLS Study Group. None of the patients had a family history of RLS or any other condition known to be associated to RLS. The patients ranged in age from 20 to 31 years old. Four of the patients indicated occasional pain in the occipital-suboccipital area upon questioning about CM-1-related symptoms. All cases had used at least two different drugs known to be effective in RLS treatment. Our opinion is that CM-1-related involvement of the cerebellum and/or connections of the cerebellum with the basal ganglia may have contributed to the development of RLS in these cases.     

Chiari type I malformation in a patient with Poland's syndrome

Chiari malformation type I and Poland's syndrome are two rare diseases and their simultaneous presentation had not been previously described in the literature. We report the case of a 27 year old male with history of Poland's syndrome, who referred headache and motor impairment of the intrinsic muscles of the left hand. In a cervical spine MR a Chiari I malformation with syringomyelia from C1 to T2 was found, which was treated by foramen magnum decompression, dural plasty and removal of the posterior arch of the atlas. A discussion of the embryological mechanisms that might be involved in the coexistence of these two entities is presented, emphasizing the role of para-axial mesoderm.     

Pierre-Robin syndrome associated with Chiari type I malformation

CASE REPORT: Pierre-Robin syndrome (PRS) is a rare congenital malformation that shows severe micrognathia and cleft soft palate. A 15-year-old boy who was admitted with occipital headache and gait disturbance was diagnosed with PRS. Radiological evaluation revealed severe herniation of the cerebellar tonsil and multiple craniovertebral osseous anomalies. We carried out foramen magnum decompression (FMD) with duroplasty. Postoperative MRI showed the cerebellar tonsil was freed from strangulation. RESULT AND CONCLUSION: This patient presented with the common finding between PRS and Chiari type I on the embryological aspect by illustrating pathophysiology of the Chiari I malformation. To our knowledge, this is the first reported case of PRS associated with Chiari malformation type I.     

The pediatric Chiari I malformation: a review

Background Both the diagnosis and treatment regimens for the Chiari I malformation (CIM) are varied and controversial. The present paper analyzes the literature regarding this form of hindbrain herniation in regard to definition, anatomy, pathobiology, symptoms, findings, treatment, and outcomes. Discussions Appropriate literature germane to the CIM is reviewed and discussed. There is variation in the reported anatomy, outcome, and treatment for children with CIM. Based on the literature, most patients have preoperative symptoms or findings (e.g., syringomyelia) improve no matter what surgical technique is utilized. However, standardized treatment paradigms based on randomized controlled studies are still necessary to elucidate the optimal selection and treatment criteria.     

Sleep apnea syndrome associated with a type I Chiari malformation.

We report a 1-year-old girl with a type I Chiari malformation who presented with sleep apnea syndrome. Our patient experienced a change in characteristics of sleep apnea from obstructive to central after adenoidectomy was performed under general anesthesia. The patient also developed dysphagia, which worsened after adenoidectomy. Both disorders greatly diminished after posterior fossa decompression. Our results suggest that type I Chiari malformation should be considered in children with sleep apnea syndrome even when obstructive characteristics predominate. When the malformation is present, timely surgery can prevent irreversible neurologic damage.     

Chiari malformation type I: related conditions

Chiari malformation type I (CMI) is a morphological diagnosis defined as the inferior displacement of the cerebellum through the foramen magnum. In parallel to this basic definition of CMI, there are diagnoses that co-exist with CMI in selected patients. In addition, there are specific constellations of clinical symptoms and signs reported in the literature that occur non-randomly in patients affected by CMI. There is no established system that categorizes these CMI-related conditions or even defines them as causes or consequences of CMI. Identifying the relationship between CMI and these associated disorders may allow greater understanding of CMI etiology and potentially inform CMI management.     

Hydrocephalus and Chiari type I malformation

Intoduction  

Hydrocephalus has been related to Chiari type I malformation (CIM) for a long time. The pathogenesis of this association is complex and still debated.     

Chiari I malformation with syrinx

The Chiari I congenital malformation is characterized by caudal displacement of the cerebellar tonsils through the cervical canal. Although this malformation is often asymptomatic, coexisting syringomyelia can result in neurologic symptoms. We report a case of progressive ataxia with brainstem dysfunction in an adolescent female manifesting a severe Chiari I malformation with syrinx. Chiari decompression 4 years after initial presentation led to rapid improvement in most of her long-term symptoms. This case demonstrates the importance of consideration of Chiari I with syringomyelia in the differential diagnosis of progressive ataxia and brainstem symptoms.     

Crouzon syndrome with acanthosis nigricans: a case-based update

Background  

Crouzon syndrome with acanthosis nigricans also named Crouzono-dermo-skeletal is a clinically and genetically distinct entity. It associates a craniofacial phenotype to anomalies of the skin and long bones. This syndrome is due to a specific mutation in FGFR3 gene that can be identified by genetic testing.     

Chiari in the family: inheritance of the Chiari I malformation

This report presents three families with Chiari malformation type I that became symptomatic during childhood: a mother and son; a set of monozygotic twins; and two half-siblings and their two maternal cousins. These children presented with various symptoms, including headache, stiff neck, and swallowing difficulty. A review of the relevant literature is presented, with an emphasis on familial examples and proposed inheritance. Less common presentations of Chiari malformation type I are discussed, as well as the possible pathogenesis of Chiari malformation type I and associated syringomyelia.     

Seizures in Chiari I malformation: a clinical and electroencephalographic study

Seven subjects with Chiari I malformations and seizures (four males, three females; age range 11 years, 7 months to 36 years; mean, 22.28 +/- 7.58 years; median, 21) were identified in four different centers from among a group of 10 patients. Our aim was to analyze clinical and electroencephalographic characteristics of seizures in this etiologically homogeneous group of patients. Most of the seizures were of the complex partial type, and paroxysmal abnormalities were mainly localized over the frontal and temporal regions. The course of the epilepsy was rather benign, with complete control of seizures in four patients and an important reduction in frequency in the remaining three subjects. Other cortical alterations are not usually associated with the typical abnormalities of the posterior fossa in Chiari I malformation; thus, it is possible to hypothesize that cerebral microdysgenesis or, alternatively, a cerebellar dysfunction could underlie epileptogenesis in these patients.     

Cutaneous manifestations and the Chiari I malformation

This article presents a child with Chiari I malformation and cutis marmorata telangiectatica congenita and reviews the medical literature regarding Chiari I malformation and other cutaneous disorders. In addition to cutis marmorata telangiectatica congenita and Chiari I malformation, our patient exhibited hemihypertrophy, Tourette's syndrome, scoliosis, obsessive-compulsive disorder, and seizures. Other associated findings seen in patients with Chiari I malformation include basilar invagination, Klippel-Feil syndrome, atlantoaxial assimilation, scoliosis from an underlying syrinx, and hydrocephalus.