Arnold Chiari Malformation with Spina Bifida: A Lost Opportunity of Folic Acid Supplementation

Abstract

In Arnold Chiari (kee-AHR-ee) II malformation elongated cerebellar tonsils are displaced inferiorly through the Foramen Magnum into the upper cervical spinal canal. It is a complex anomaly with skull, dura, brain, spine and cord manifestations. Meningomyelocele is seen in all cases. We present a case of type II Arnold Chiari Malformation diagnosed in utero in a pregnant lady .There was no periconceptional folic acid supplementation. As the role of the Methylene Tetra Hydro Folate Reductase gene polymorphism in neural tube defects is becoming evident, a simple opportunity as folic acid supplementation should not be missed. Folate supplementation as fortification of cereal grains will also prevent other conditions like congenital heart defects, urinary tract anomalies, orofacial defects, limb defects and pyloric stenosis.

Study of Chiari Malformations in a Tertiary Care Hospital in North-East India

“…Lee S et al [11] observed that ventriculomegaly was common (but no syrinx or scoliosis) was no.4). Basilar invaginations are found in 50% of cases of type II CM [14]. In the present study, basilar invagination was absent in type II CM (Table 5).…”

“…In type II CM, moderate hydrocephalous has been documented in about 25% cases. Syringomyelia is present in 60% of established cases [14]. Among 14 type II CM patients in the present study, 28.57% were associated with hydrocephalus and 35.71% were associated with syringomyelia (Figure 2A, 2B).…”

Prenatally Diagnosed Type II Arnold Chiari Malformations-A Rare Congenital Anomaly with Some Unusual Associated Defects

“…There are also reports of neural tube defects, calvarial defects, fenestrated falx, hypoplastic tentorium, wider foramen magnum, medullary kink and corpus callosal hypoplasia. [5,6] It can be noted that in the present case, some of these defects were observed; there were other defects such as presence of a large cyst abutting spina bifida, dilated lateral ventricles and mild scoliosis are seldom associated with type II ACM.…”

“…One of the most commonly performed treatment procedure is atlantoaxial stabilization [9]. In addition, there is a report that type II ACM can be prevented by preconceptional folic acid and Vitamin B 12 supplementation [5]. Complexity of disabilities involving wide range of neural and skeletal malformations, prenatal diagnosis of the malformation and possibility of medical termination of pregnancy as in the present case may be are some of the reasons for lack of abundancy about literature on treatments for type II ACM.…”

“…Generally, there is little or no damage to the cerebellar vermis, the fourth ventricle and medulla oblongata. There are reports of mild hydrocephalous in about 25% cases, syringomyelia in about 60% of cases, skeletal anomalies in about 25% of cases, basilar invagination in about 50% of cases and Klippel Feil syndrome in about 10% of cases [3,5]. There are also reports of neural tube defects, calvarial defects, fenestrated falx, hypoplastic tentorium, wider foramen magnum, medullary kink and corpus callosal hypoplasia.…”