Autosomal recessive nonsyndromal hydrocephalus (original) (raw)
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Autosomal recessive hydrocephalus with aqueductal stenosis
Child's Nervous System, 1996
We report the case histories of three sisters with congenital hydrocephalus associated with stenosis of the cerebral aqueduct. The parents were a young consanguineous couple. In two cases hydrocephalus was detected before birth by ultrasonography. We consider these three cases to be of the rare autosomal form of hereditary hydrocephalus.
Inbreeding as a Cause of Congenital Hydrocephalus
International Journal of Infertility & Fetal Medicine
Aim: The aim of the study was to determine the role of inbreeding in occurrence of lethal congenital hydrocephalus (LCH) and congenital abnormalities associated with it. Materials and methods: There was an examination of 182 fetuses born with LCH, out of which 69 were diagnosed with isolated and 113 fetuses were diagnosed with associated hydrocephalus resulting in 38% and 62% occurrences, respectively. All the fetuses were the result of spontaneous abortions, stillbirths, neonatal deaths and the pregnancy terminations due to medical reasons. The fetal autopsy was performed immediately after the fetal expulsion. The brain examination was performed after being preserved in 10% formalin solution for the period of 6 months. Measurements were taken on the ventricles in their central parts. Ventricles with the enlargements over 10 mm were determined as hydrocephalus and severe ventriculomegaly if the ventricular dimensions were over 15 mm. Results: Lethal congenital hydrocephalus associated with were the presence of previous pregnancies with inbreeding and malformations [OR = 7.309 CI 95% (1.806-29.584)]; the maternal age over 40 and the third-degree inbreeding in fetus [OR = 18.500 CI 95% (1.410-638.150)]; agenesis of the corpus callosum in fetuses born from mothers in close relative marriages [OR = 30.000 CI 95% (1.410-638.150)]; aqueductal stenosis [OR = 9.867 CI 95% (1.328-73.296)]; skeletal dysplasia [OR = 6.727 CI 95% (1.203-37.609)]; and Dandy-Walker syndrome [OR = 6.250 CI 95% (0.803-48.671)]. Conclusion: The obtained results unambiguously prove the importance and significance of inbreeding as a risk factor of LCH appearance and its increase in association with other risk factors which should be taken into consideration when observing such pregnancies. Clinical significance: Lethal congenital hydrocephalus is the result of a significant number of risk factors and is often associated with other malformations. Currently, prenatal ultrasound is able to visualize ventriculomegaly. It is important to gather information about the previous pregnancies and the type of marriage among close relatives. In case of ventriculomegaly it is imperative to carry out MRI and genetic testing that can provide additional information. In the case of medical abortion, stillbirth or neonatal death, a fetopathological study must be carried out which enriches our knowledge of malformations, complements and directs the ultrasound examination, modifies genetic counseling and determines the behavior to be followed when taking responsibility for a new, subsequent pregnancy.
An epidemiologic study of environmental and genetic factors in congenital hydrocephalus
European Journal of Epidemiology, 1992
Risk factors were studied in 96 children with congenital hydrocephalus (CH) coming from 118,265 consecutive births of known outcome. Hydrocephalus with neural tube defects, intracranial tumors or secondary to brain atrophy were excluded. The prevalence of CH was 0.81 per thousand. Diagnosis was performed prenatally in 41 cases. Forty-three (44.80/0) of the cases had hydrocephalus without other malformations (isolated hydrocephalus), 18 (18.70/0) infants had recognized chromosomal or non-chromosomal syndromes and 35 children (36.4°/0) had multiple malformations. Each case was matched to a control. Weight and length at birth of children with hydrocephalus were less than in the controls (p < 0.001). The weight of the placenta was lower than in the controls (9 < 0.05). The pregnancy with a hydrocephalic child was more often complicated by threatened abortion, polyhydramnios and oligohydramnios. The mothers of children with hydrocephalus and multiple malformations had used oral contraceptives during the first trimester of pregnancy more often than the mothers of the controls. No differences appeared between the mothers of children with CH and the controls for the other risk factors studied: parental age, parity, previous pregnancies, previous stillbirths, smoking, diabetes, epilepsy, X-rays, hypertension, fever "flu", medication and occupational exposure. There was an increase of parental consanguinity in the parents of our patients (6.2% v. 1.1%, p < 0.001) and first degree relatives had more non-cerebral malformations than the controls (7.3% v. 3.2%, p < 0.05).
Journal of the Neurological Sciences, 1998
A kindred is reported on with suspected autosomal dominant congenital hydrocephalus and aqueduct stenosis. In contrast to patients with X-linked congenital hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) our patients were not mentally retarded and they did not show any pyramidal tract dysfunction or clasped thumbs; the pyramids were not affected either, as was confirmed by autopsy, CT or MRI. Molecular genetic studies in our patients have not revealed abnormalities of eight exons of the L1 neural adhesion molecule gene that is related to HSAS.
Autosomal recessive hydrocephalus with third ventricle obstruction
American Journal of Medical Genetics, 1990
Here we report a brother and sister who presented in the neonatal period with hydrocephalus. Ultrasonography showed marked dilatation of the lateral ventricles but not the third ventricle. One child with postnatal onset was shunted and had normal development at 3 years. The other child had severe hydrocephalus at birth and was not treated. Neuropathologic studies demonstrated dilatation of the lateral ventricles and marked narrowing of the posterior part of the third ventricle but no other malformations other than those that result directly from hydrocephalus. The potential for a good prognosis is emphasized.
Familial aggregation of congenital hydrocephalus in a nationwide cohort
Brain, 2012
The objective of the study was to investigate familial aggregation of primary congenital hydrocephalus in an unselected, nationwide population. Based on the Danish Central Person Register, we identified all children born in Denmark between 1978 and 2008 and their family members (up to third-degree relatives). Information on primary congenital hydrocephalus was obtained from the National Patient Discharge Register. Using binomial log-linear regression, we estimated recurrence risk ratios of congenital hydrocephalus. An alternative log-linear regression model was applied to quantify the genetic effect and the maternal effect. Of 1 928 683 live-born children, 2194 had a diagnosis of idiopathic congenital hydrocephalus (1.1/1000). Of those, 75 (3.4%) had at least one other family member with primary congenital hydrocephalus. Significantly increased recurrence risk ratios of primary congenital hydrocephalus were observed for same-sex twins, first-and second-degree relatives as follows: 34.8 (95% confidence interval: 16.4-74.0), 6.2 (95% confidence interval 4.3-8.9) and 2.2 (95% confidence interval 1.6-3.1), respectively. Recurrence risk ratio for third-degree relatives was 1.5 (95% confidence interval 0.8-2.7). A maternal component was supported by the facts that recurrence risk ratios for opposite-sex twins (37.3, 95% confidence interval 11.9-116.7) were significantly higher than other first-degree relatives and that recurrence risk ratios for maternal half-siblings (8.4, 95% confidence interval 3.7-18.7) were significantly higher than for paternal half-siblings (3.0, 95% confidence interval 0.8-12.2). This population-based study found strong evidence of familial aggregation of primary congenital hydrocephalus, which supports the existence of a genetic component to the aetiology. In addition, the pattern of association suggests that a strong maternal component contributes to the familial aggregation.
Neural tube defects and congenital hydrocephalus in the Sultanate of Oman
Journal of Tropical Pediatrics, 1998
A retrospective study was carried out in Oman to determine the incidence of neural tube defects (NTD) and congenital hydrocephalus (CH) and to identify any possible associations. National data retrieved from hospital records revealed the incidence of NTD in Oman to be comparatively low (1.25 per 1000), but the incidence of CH was much higher than that seen in Western Europe (0.44 per 1000) and was found to be associated with high rates of other congenital anomalies and neonatal death. There were no specific environmental factors associated with NTD and high environmental temperatures during the tropical desert summer (temperatures reach 48°C) were excluded as a causative factor. In spina biflda families, later born children were more likely to be affected and there was also an association with increased maternal but not paternal age. Much higher consanguinity rates were noted in families with NTD and CH than in the general population.
Acta Neuropathologica, 2013
to discuss the main differential diagnoses in non-mutated foetuses in order to delineate closely related conditions without L1CAM mutations. Neuropathological data from 138 cases referred to our genetic laboratory for screening of the L1CAM gene were retrospectively reviewed. Fiftyseven cases had deleterious L1CAM mutations. Of these, 100 % had hydrocephalus, 88 % adducted thumbs, 98 % pyramidal tract agenesis/hypoplasia, 90 % stenosis of the aqueduct of Sylvius and 68 % agenesis/hypoplasia of the corpus callosum. Two foetuses had L1CAM mutations of unknown significance. Seventy-nine cases had no L1CAM mutations; these were subdivided into four groups: (1) Abstract L1 syndrome results from mutations in the L1CAM gene located at Xq28. It encompasses a wide spectrum of diseases, X-linked hydrocephalus being the most severe phenotype detected in utero, and whose pathophysiology is incompletely understood. The aim of this study was to report detailed neuropathological data from patients with mutations, to delineate the neuropathological criteria required for L1CAM gene screening in foetuses by characterizing the sensitivity, specificity and positive predictive value of the cardinal signs, and H. Adle-Biassette and P. Saugier-Veber contributed equally to the work.
Recurrent Hydrocephalus with Neural Tube Defect- A Case Report
International Journal of Contemporary Pediatrics, 2014
The occurrence of congenital hydrocephalus in successive pregnancies is a rare event. Several modes of genetic transmission have been suggested for familial cases of hydrocephalus. The most common heritable pattern of inheritance is X-linked recessive aqueductal stenosis which carries 25% risk of recurrence in future pregnancies with 50% risk for male fetuses. In families where multiple siblings of both the sexes are affected, an autosomal recessive inheritance due to consanguinity has been an alternative explanation. We report a case of female baby with congenital hydrocephalus and lumbar myelomeningocele who was born of a mother with a history of male babies with congenital hydrocephalus in her previous two pregnancies. She had first degree consanguinity with her husband. We discuss the possible differential diagnoses and etiological factors.