Hydrocephalus Panel

Congenital or infantile-onset hydrocephalus (CH) is a disorder in which a child is born with an excessive accumulation of cerebrospinal fluid within the brain ventricles, resulting in an abnormal widening of brain ventricles. Clinical features in newborns and are characterized by macrocephaly, frontal bossing, bulging anterior fontanel, prominent scalp veins, and increased muscle tone. Parents may report poor feeding, irritability and vomiting. In general, the causes of hydrocephalus are heterogeneous, and the majority of cases are secondary to neural tube defects, intracranial hemorrhages, trauma, tumors, teratogens or brain malformations. The remaining cases can be divided into the syndromic and non-syndromic.  L1 syndrome, due to pathogenic variants in the L1CAM gene, is the most common cause of congenital hydrocephalus and accounts for about 5-10% of males with congenital hydrocephalus The phenotypic spectrum of L1 syndrome, which can range from severe to mild, includes X-linked hydrocephalus, MASA syndrome (mental retardation, aphasia, shuffling gait and adducted thumbs) and X-linked corpus callosum agenesis. In less severely affected males, hydrocephalus may be sub clinically present and only documented because of developmental delay. This panel includes seqeunce and deletion/duplication analysis of all the listed genes.