Syringomyelia in VACTERL-H association: a new neurological feature in an adult patient.

Abstract

VACTERL association is a non-random co-occurrence of vertebral defects, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, and limb abnormalities [1]. In a few patients, the association is more complex and includes hydrocephalus. This so-called VACTERL-H phenotype is a genetically heterogeneous disorder in which familial recurrences are consistent with both autosomal recessive and sex-linked inheritance [2]. Although several neurological features have been described in the clinical spectrum of VACTERL-H association [2–4], syringomyelia has not been reported. Here, I describe a 31-year-old Mexican woman who was born to healthy first-cousins parents, with VACTERL-H association and syringomyelia as a novel observed neurological feature. A Mexican female was the first child of healthy firstcousins parents. The mother had two previous miscarriages, but could not provide specifics of multiple congenital anomalies (Fig. 1). There was no exposure to environmental noxious influences at pre-conception and during the pregnancy. The patient was born at the 37th week of gestation by cesarean section after an uneventful pregnancy; birth weight was 2900 g, length was 47 cm (both in 25th centile), and OFC was 38.5 cm ([97th centile). Soon after birth, hydrocephalus was detected and treated with ventriculo-peritoneal shunt, whereas anal atresia with rectovaginal fistula was repaired without a colostomy. An atrial septal defect was repaired at age 3 years; right renal agenesis and L5 spina bifida occulta were also detected during childhood. Several changes of the shunt system were done mainly due to infection (last one at age 25 years). A brain MRI at this age disclosed cerebellar displacement with tonsillar herniation below the foramen magnum consistent with an Arnold–Chiari type II malformation, and a cervicothoracic syringomyelia (Fig. 2). Periodical clinical examinations revealed occasional upper limb weakness (mild intensity) but no craniofacial dysmorphisms or thoracoabdominal, genital or limb anomalies. Her psychomotor development and intelligence were normal. Extensive metabolic workup including neonatal metabolic biomarkers and TORCH screen, as well as ophthalmological examination, G-banded karyotype ([550 bands) and chromosome breakage study with diepoxybutane, were normal. The patient is currently 31 years old, continues with her treatment, and has no overt clinical changes. The pattern of congenital anomalies in the present patient comprising vertebral, anal, cardiac and renal defects together with hydrocephalus led to the diagnosis of VACTERL-H association. Significantly, the patient also had Arnold–Chiari type II malformation and cervicothoracic syringomyelia. Brain abnormalities in VACTERL-H are variable and include aqueductal stenosis, Arnold– Chiari malformation, non-progressive ventriculomegaly, lobar holoprosencephaly, agenesis of the septum pellucidum and corpus callosum [2–4]. Thus, the current observation adds syringomyelia as a novel feature of the VACTERL-H association. Although each VACTERL/VACTERL-H patient may display a unique combination of congenital anomalies, the clinical presentation can evoke other similar disorders such & Victor M. Salinas-Torres vm_salinas7@hotmail.com