Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012).
Hydrocephalus can also ... Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). - Genetic Heterogeneity of Congenital Hydrocephalus See also autosomal recessive HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p. An X-linked form (307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28.
Ekici et al. (2010) reported a girl, born of consanguineous parents of Algerian origin, with congenital nonsyndromic hydrocephalus. Fetal ultrasound at 25 weeks' gestation showed enlarged ventricles. Brain MRI at age 3 days showed dilatation of the lateral ... Ekici et al. (2010) reported a girl, born of consanguineous parents of Algerian origin, with congenital nonsyndromic hydrocephalus. Fetal ultrasound at 25 weeks' gestation showed enlarged ventricles. Brain MRI at age 3 days showed dilatation of the lateral ventricles with normal third and fourth ventricles. A diverticulum-like pouch extended from the medial-posterior aspect of the left lateral ventricle into the interhemispheric space, extending through the tentorium into the infratentorial space, leading to mild compression of the upper cerebellar vermis. The posterior fossa was markedly enlarged with supra- and retrocerebellar fluid accumulation. Communication between the fourth ventricle and the cisterna magna was normal. The child had seizures, but showed no other malformations, dysmorphism, or neurologic anomalies. At age 3 years, she showed normal psychomotor development. An earlier pregnancy of these parents had been terminated due to ventricular enlargement detected on prenatal ultrasound. Drielsma et al. (2012) reported 2 unrelated consanguineous families with autosomal recessive nonsyndromic hydrocephalus. In 1 Ashkenazi Jewish family, 4 sibs had congenital hydrocephalus and seizures. The head circumferences at birth ranged from 39.5 to 49 cm, and all were delivered by cesarean section. Two had midline cystic structures and 1 had an extra-axial parietal cyst, but none had an enlarged fourth ventricle. One child had biparietal polymicrogyria. All were developmentally delayed, with moderate to severe mental retardation and motor impairment; one 18-year-old was severely affected and only able to sit. In the second family, a first-cousin couple of Palestinian origin underwent 5 terminations of pregnancy following the diagnosis of marked ventricular dilatation at mid-gestation. The couple also had a twin miscarriage at 10 weeks' gestation.
In a girl, born of consanguineous parents, with nonsyndromic hydrocephalus, Ekici et al. (2010) identified a homozygous splice site mutation in the CCDC88C gene (611204.0001), resulting in premature termination. An affected fetus, a sib of the girl, was ... In a girl, born of consanguineous parents, with nonsyndromic hydrocephalus, Ekici et al. (2010) identified a homozygous splice site mutation in the CCDC88C gene (611204.0001), resulting in premature termination. An affected fetus, a sib of the girl, was also found to carry this homozygous mutation. The mutation was found by homozygosity mapping followed by candidate gene sequencing. Protein and gene expression profiling indicated disturbed regulation of the WNT (see, e.g., WNT3A, 606359) signaling pathway. In affected members of 2 unrelated families with HYC, Drielsma et al. (2012) identified 2 different homozygous mutations in the CCDC88C gene (611204.0002-611204.0003).